Genetic Services Laboratory (University of Chicago)
General information
Genetic Services Laboratory
University of Chicago
5841 S. Maryland Ave. Rm G701, MC0077
Chicago
Illinois
United States - 60637-6726
http://dnatesting.uchicago.edu/
Organization ID: 1238
University of Chicago
5841 S. Maryland Ave. Rm G701, MC0077
Chicago
Illinois
United States - 60637-6726
http://dnatesting.uchicago.edu/
Organization ID: 1238
Personnel
- Nathaniel Phillips, Informatics staff
Phone: 773-834-0555
Email: nphilips78@bsd.uchicago.edu - Sanjukta Tawde, Genetic Counselor
Phone: 773-834-5812
Email: stawde@bsd.uchicago.edu - Malia Triebold, Genetic Counselor
Phone: 773-834-2795
Email: mtriebold@bsd.uchicago.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 24524
Gene
Gene | Submissions | Last Updated |
---|---|---|
A2ML1 | 1 | Jul 5, 2017 |
AAAS | 5 | Jan 24, 2022 |
AARS2 | 2 | Jan 24, 2022 |
ABCA1 | 1 | Jan 25, 2022 |
ABCA13 | 1 | Sep 15, 2015 |
ABCB11 | 2 | Jul 5, 2017 |
ABCB7 | 1 | Jan 23, 2022 |
ABCC6 | 2 | Jul 5, 2017 |
ABCC8 | 203 | Mar 9, 2023 |
ABCC9 | 1 | Jul 5, 2017 |
ABCD1 | 2 | Jul 5, 2017 |
ABCD4 | 1 | Jan 24, 2022 |
ABCG5 | 14 | Mar 9, 2023 |
ABCG8 | 13 | Mar 9, 2023 |
ABHD12 | 3 | Jun 27, 2014 |
ABHD14A-ACY1 | 1 | Jan 24, 2022 |
ACADS | 1 | Jan 24, 2022 |
ACADVL | 1 | Jul 5, 2017 |
ACD | 32 | Mar 9, 2023 |
ACO2 | 2 | Jun 27, 2014 |
ACOX1 | 1 | Jan 24, 2022 |
ACSF3 | 1 | Jan 24, 2022 |
ACSL4 | 12 | Jan 25, 2022 |
ACTA1 | 10 | Jan 25, 2022 |
ACTB | 9 | Jan 25, 2022 |
ACTC1 | 1 | Jan 24, 2022 |
ACTG1 | 33 | Jan 25, 2022 |
ACTL6B | 2 | Jan 24, 2022 |
ACTN1 | 6 | Jan 25, 2022 |
ACTN4 | 4 | Mar 9, 2023 |
ACVRL1 | 3 | Jan 25, 2022 |
ACY1 | 1 | Jan 24, 2022 |
ADA | 8 | Mar 9, 2023 |
ADA2 | 9 | Mar 9, 2023 |
ADAMTS13 | 12 | Feb 18, 2022 |
ADAR | 1 | Jan 24, 2022 |
ADAT3 | 15 | Jan 25, 2022 |
ADCY10 | 1 | Jan 25, 2022 |
ADCY3 | 3 | Jan 25, 2022 |
ADGRG1 | 50 | Jan 25, 2022 |
ADGRV1 | 91 | Jul 5, 2017 |
ADNP | 15 | Jan 25, 2022 |
ADRA2A | 3 | Jan 25, 2022 |
ADSL | 8 | Mar 9, 2023 |
AFF2 | 29 | Jan 25, 2022 |
AFF4 | 8 | Jan 25, 2022 |
AFG2A | 9 | Jan 25, 2022 |
AFG3L2 | 3 | Sep 15, 2015 |
AGMO | 8 | Jan 25, 2022 |
AGO1 | 1 | Jan 24, 2022 |
AGPAT2 | 11 | Jan 25, 2022 |
AGPS | 4 | Sep 11, 2014 |
AGRN | 52 | Jan 25, 2022 |
AGTR2 | 1 | Apr 30, 2014 |
AHDC1 | 6 | Jan 25, 2022 |
AHI1 | 21 | Mar 9, 2023 |
AIP | 2 | Mar 9, 2023 |
AIRE | 28 | Jan 25, 2022 |
AKR1C2 | 3 | Jan 25, 2022 |
AKT1 | 1 | Jul 5, 2017 |
AKT2 | 14 | Jan 25, 2022 |
AKT3 | 1 | Jan 25, 2022 |
ALAS2 | 21 | Mar 9, 2023 |
ALDH5A1 | 16 | Jan 25, 2022 |
ALDH7A1 | 10 | Mar 6, 2020 |
ALDOB | 1 | Jan 24, 2022 |
ALG12 | 1 | Jan 24, 2022 |
ALG13 | 5 | Jan 25, 2022 |
ALG14 | 3 | Jan 25, 2022 |
ALG6 | 22 | Jan 25, 2022 |
ALG8 | 2 | Mar 9, 2023 |
ALG9 | 5 | Mar 9, 2023 |
ALK | 16 | Mar 9, 2023 |
ALMS1 | 72 | Mar 9, 2023 |
ALPL | 5 | Jan 25, 2022 |
ALX1 | 2 | Jul 5, 2017 |
ALX3 | 1 | Sep 15, 2015 |
ALX4 | 2 | Mar 9, 2023 |
AMACR | 6 | Sep 15, 2015 |
AMH | 7 | Jan 25, 2022 |
AMHR2 | 6 | Jan 25, 2022 |
AMPD2 | 3 | Jul 5, 2017 |
ANGPT2 | 9 | Jul 5, 2017 |
ANK3 | 146 | Jan 25, 2022 |
ANKLE2 | 1 | Mar 9, 2023 |
ANKRD11 | 30 | Mar 9, 2023 |
ANKRD26 | 107 | Mar 9, 2023 |
ANKS6 | 2 | Mar 9, 2023 |
ANLN | 2 | Mar 9, 2023 |
ANO10 | 11 | Dec 5, 2022 |
ANO5 | 10 | Jan 25, 2022 |
ANOS1 | 1 | Jul 5, 2017 |
AOPEP | 33 | Mar 9, 2023 |
AP1S2 | 4 | Jul 5, 2017 |
AP2S1 | 2 | Jan 25, 2022 |
AP3B1 | 19 | Jan 25, 2022 |
AP3D1 | 3 | Jan 25, 2022 |
AP4B1 | 37 | Jan 25, 2022 |
AP4B1-AS1 | 27 | Jan 25, 2022 |
AP4E1 | 42 | Jan 25, 2022 |
AP4M1 | 27 | Jan 25, 2022 |
AP4S1 | 11 | Jan 25, 2022 |
AP5Z1 | 9 | Sep 15, 2015 |
APBA2 | 1 | Jul 5, 2017 |
APC | 66 | Mar 9, 2023 |
APOA1 | 5 | Mar 9, 2023 |
APOA1-AS | 4 | Mar 9, 2023 |
APOA2 | 4 | Mar 9, 2023 |
APOA5 | 1 | Jan 25, 2022 |
APOB | 20 | Jan 25, 2022 |
APOE | 1 | Jan 25, 2022 |
APOL1 | 1 | Jan 25, 2022 |
APPL1 | 9 | Mar 9, 2023 |
APTX | 2 | Jul 5, 2017 |
AR | 35 | Mar 9, 2023 |
ARFGEF1 | 2 | Jul 5, 2017 |
ARFGEF1-DT | 4 | Jan 23, 2022 |
ARFGEF2 | 91 | Jan 25, 2022 |
ARHGAP6 | 1 | Apr 30, 2014 |
ARHGEF15 | 3 | Jul 5, 2017 |
ARHGEF6 | 16 | Jan 25, 2022 |
ARHGEF9 | 10 | Jan 25, 2022 |
ARID1A | 87 | Mar 9, 2023 |
ARID1B | 148 | Jan 25, 2022 |
ARL13B | 6 | Mar 9, 2023 |
ARL14EP-DT | 1 | Jan 25, 2022 |
ARSA | 4 | Jan 24, 2022 |
ARSL | 13 | Jan 23, 2022 |
ARV1 | 1 | Jan 25, 2022 |
ARX | 67 | Jan 25, 2022 |
ASB14 | 2 | Jan 25, 2022 |
ASIC4-AS1 | 2 | Jan 25, 2022 |
ASL | 4 | Jan 24, 2022 |
ASNS | 7 | Jan 25, 2022 |
ASPA | 1 | Jan 24, 2022 |
ASPM | 265 | Mar 9, 2023 |
ASS1 | 3 | Jul 5, 2017 |
ASTN2 | 5 | Mar 9, 2023 |
ASXL2 | 3 | Jan 25, 2022 |
ASXL3 | 41 | Mar 9, 2023 |
ATAD3A | 1 | Jan 23, 2022 |
ATCAY | 2 | Jan 25, 2022 |
ATG2B | 24 | Mar 9, 2023 |
ATL1 | 2 | Jun 27, 2014 |
ATM | 227 | Mar 9, 2023 |
ATN1 | 8 | Mar 6, 2020 |
ATP13A2 | 21 | Jan 25, 2022 |
ATP1A2 | 12 | Jan 24, 2022 |
ATP1A3 | 14 | Jan 24, 2022 |
ATP2B3 | 1 | Jan 23, 2022 |
ATP6AP2 | 4 | Jun 27, 2014 |
ATP6V0A2 | 8 | Jan 25, 2022 |
ATP6V0A4 | 1 | Mar 9, 2023 |
ATP7A | 105 | Jul 5, 2017 |
ATP7B | 74 | Dec 5, 2022 |
ATP8A2 | 4 | Sep 15, 2015 |
ATR | 84 | Jan 25, 2022 |
ATRX | 56 | Mar 9, 2023 |
ATXN1 | 15 | Sep 15, 2015 |
ATXN2 | 5 | Sep 15, 2015 |
ATXN3 | 9 | Sep 15, 2015 |
ATXN7 | 4 | Jun 27, 2014 |
AUH | 1 | Jun 27, 2014 |
AXDND1 | 1 | Mar 9, 2023 |
AXIN1 | 3 | Mar 9, 2023 |
AXIN2 | 12 | Mar 9, 2023 |
B3GALNT2 | 6 | Jan 25, 2022 |
B3GLCT | 5 | Jan 25, 2022 |
B4GALNT1 | 1 | Jan 25, 2022 |
B4GAT1 | 3 | Jan 25, 2022 |
B9D1 | 2 | Jul 5, 2017 |
B9D2 | 1 | Jul 5, 2017 |
BAP1 | 31 | Mar 9, 2023 |
BARD1 | 25 | Jan 25, 2022 |
BBS1 | 24 | Jan 25, 2022 |
BBS10 | 17 | Mar 9, 2023 |
BBS12 | 16 | Mar 9, 2023 |
BBS2 | 5 | Jan 25, 2022 |
BBS4 | 6 | Jan 25, 2022 |
BBS5 | 9 | Jan 25, 2022 |
BBS7 | 9 | Mar 9, 2023 |
BBS9 | 23 | Mar 9, 2023 |
BCKDHA | 6 | Jan 24, 2022 |
BCKDHB | 2 | Jan 24, 2022 |
BCKDK | 6 | Jul 5, 2017 |
BCOR | 33 | Jan 25, 2022 |
BICD2 | 4 | Jan 25, 2022 |
BIN1 | 20 | Sep 15, 2015 |
BIVM-ERCC5 | 7 | Jan 24, 2022 |
BLK | 21 | Mar 9, 2023 |
BLK-AS1 | 9 | Jan 25, 2022 |
BLM | 88 | Mar 9, 2023 |
BLOC1S3 | 7 | Jan 25, 2022 |
BLOC1S6 | 1 | Jul 5, 2017 |
BLTP1 | 1 | Jan 25, 2022 |
BMP4 | 2 | Jan 25, 2022 |
BMPR1A | 12 | Jan 25, 2022 |
BRAF | 2 | Jan 25, 2022 |
BRAT1 | 9 | Jan 25, 2022 |
BRCA1 | 176 | Mar 9, 2023 |
BRCA2 | 265 | Mar 9, 2023 |
BRD4 | 1 | Mar 9, 2023 |
BRIP1 | 66 | Mar 9, 2023 |
BRPF1 | 1 | Jan 24, 2022 |
BRWD3 | 18 | Jan 25, 2022 |
BSCL2 | 9 | Jan 25, 2022 |
BSND | 1 | Mar 9, 2023 |
BTD | 8 | Mar 9, 2023 |
BTK | 3 | Mar 9, 2023 |
BUB1B | 3 | Jan 25, 2022 |
C10orf105 | 1 | Jan 24, 2022 |
C11orf65 | 83 | Mar 9, 2023 |
C12orf43 | 1 | Mar 6, 2020 |
C12orf57 | 11 | Jan 25, 2022 |
C17orf107 | 7 | Jan 25, 2022 |
C19orf12 | 7 | Jul 5, 2017 |
C1QTNF3-AMACR | 6 | Sep 15, 2015 |
C2 | 3 | Jan 25, 2022 |
C3 | 22 | Mar 9, 2023 |
CA8 | 8 | Jan 25, 2022 |
CACNA1A | 49 | Mar 9, 2023 |
CACNA1D | 32 | Mar 9, 2023 |
CACNA1G | 1 | Jul 5, 2017 |
CACNA2D2 | 3 | Jan 25, 2022 |
CACNB4 | 6 | Mar 6, 2020 |
CACNG2 | 2 | Jul 5, 2017 |
CAMTA1 | 6 | Jul 5, 2017 |
CAPN1 | 2 | Jan 25, 2022 |
CAPN3 | 20 | Jan 25, 2022 |
CARD11 | 25 | Mar 9, 2023 |
CARD11-AS1 | 2 | Jan 25, 2022 |
CASD1 | 1 | Jul 5, 2017 |
CASK | 48 | Mar 9, 2023 |
CASP10 | 6 | Mar 9, 2023 |
CASR | 15 | Mar 9, 2023 |
CAST | 11 | Jan 25, 2022 |
CAV1 | 2 | Jun 27, 2014 |
CAV3 | 5 | Jun 27, 2014 |
CAVIN1 | 4 | Jul 5, 2017 |
CBL | 50 | Jan 25, 2022 |
CBR4 | 1 | Sep 15, 2015 |
CC2D1A | 56 | Jan 25, 2022 |
CC2D2A | 42 | Mar 9, 2023 |
CCDC22 | 21 | Dec 5, 2022 |
CCDC40 | 1 | Apr 30, 2014 |
CCDC78 | 8 | Oct 4, 2017 |
CCDC8 | 1 | Jan 25, 2022 |
CCDC88A | 1 | Mar 9, 2023 |
CCDC88C | 39 | Jan 25, 2022 |
CCND2 | 1 | Jan 25, 2022 |
CCNF | 1 | Mar 6, 2020 |
CD27 | 4 | Mar 9, 2023 |
CD27-AS1 | 4 | Mar 9, 2023 |
CD40LG | 1 | Mar 9, 2023 |
CD46 | 4 | Mar 9, 2023 |
CD70 | 1 | Jan 25, 2022 |
CDC6 | 11 | Jul 5, 2017 |
CDC73 | 5 | Jan 25, 2022 |
CDH1 | 38 | Mar 9, 2023 |
CDH15 | 52 | Jan 25, 2022 |
CDH23 | 2 | Jan 24, 2022 |
CDK4 | 6 | Jan 25, 2022 |
CDK5 | 2 | Jul 5, 2017 |
CDK5RAP2 | 94 | Mar 9, 2023 |
CDK6 | 6 | Mar 9, 2023 |
CDKL5 | 64 | Jan 25, 2022 |
CDKN1B | 4 | Jan 25, 2022 |
CDKN1C | 17 | Mar 9, 2023 |
CDKN2A | 8 | Mar 9, 2023 |
CDT1 | 50 | Jan 25, 2022 |
CEBPA | 31 | Mar 9, 2023 |
CEL | 27 | Mar 9, 2023 |
CENPE | 24 | Jan 25, 2022 |
CENPF | 37 | Jan 25, 2022 |
CEP104 | 1 | Jul 5, 2017 |
CEP120 | 7 | Mar 9, 2023 |
CEP135 | 42 | Jan 25, 2022 |
CEP152 | 98 | Jan 25, 2022 |
CEP164 | 2 | Mar 9, 2023 |
CEP290 | 76 | Mar 9, 2023 |
CEP41 | 3 | Mar 9, 2023 |
CEP63 | 30 | Dec 5, 2022 |
CEP83 | 1 | Jan 25, 2022 |
CFB | 4 | Jan 25, 2022 |
CFH | 4 | Jan 25, 2022 |
CFHR1 | 4 | Jan 25, 2022 |
CFHR3 | 2 | Jan 25, 2022 |
CFHR4 | 11 | Jan 25, 2022 |
CFHR5 | 9 | Jan 25, 2022 |
CFI | 8 | Jan 25, 2022 |
CFL2 | 2 | Sep 15, 2015 |
CFTR | 8 | Oct 4, 2017 |
CFTR-AS1 | 2 | Jul 5, 2017 |
CHAMP1 | 1 | Jul 5, 2017 |
CHAT | 17 | Jul 5, 2017 |
CHD2 | 9 | Jan 25, 2022 |
CHD4 | 4 | Mar 9, 2023 |
CHD7 | 125 | Mar 9, 2023 |
CHD8 | 2 | Jan 25, 2022 |
CHEK2 | 58 | Mar 9, 2023 |
CHKB | 4 | Jan 25, 2022 |
CHKB-CPT1B | 4 | Jan 25, 2022 |
CHMP1A | 5 | Jul 5, 2017 |
CHMP2B | 1 | Jan 23, 2022 |
CHRNA1 | 4 | Jan 25, 2022 |
CHRNA2 | 7 | Jun 27, 2014 |
CHRNA4 | 13 | Jun 27, 2014 |
CHRNB1 | 4 | Jun 27, 2014 |
CHRNB2 | 4 | Oct 4, 2017 |
CHRND | 11 | Jan 25, 2022 |
CHRNE | 14 | Jan 25, 2022 |
CHST14 | 3 | Jul 5, 2017 |
CIC | 3 | Jan 25, 2022 |
CIDEC | 10 | Jan 25, 2022 |
CIT | 21 | Jan 25, 2022 |
CITED2 | 1 | Jan 23, 2022 |
CKAP2L | 1 | Mar 9, 2023 |
CLASP1 | 2 | Jan 25, 2022 |
CLCC1 | 4 | Jan 25, 2022 |
CLCN1 | 1 | Jan 23, 2022 |
CLCN4 | 8 | Jan 25, 2022 |
CLIC2 | 1 | Jul 5, 2017 |
CLIP1 | 26 | Jan 25, 2022 |
CLN3 | 6 | Jul 5, 2017 |
CLN5 | 13 | Jan 23, 2022 |
CLN6 | 8 | Jul 5, 2017 |
CLN8 | 6 | Jul 5, 2017 |
CLPB | 1 | Jan 24, 2022 |
CLRN1 | 1 | Sep 15, 2015 |
CNKSR2 | 2 | Jan 25, 2022 |
CNNM4 | 1 | Jul 5, 2017 |
CNOT1 | 1 | Jan 25, 2022 |
CNTN1 | 14 | Jul 5, 2017 |
CNTNAP2 | 78 | Dec 5, 2022 |
COA7 | 1 | Jan 24, 2022 |
COASY | 1 | Jan 24, 2022 |
COG4 | 3 | Jun 27, 2014 |
COG8 | 1 | Jan 24, 2022 |
COL11A2 | 1 | Jul 5, 2017 |
COL12A1 | 2 | Jan 25, 2022 |
COL13A1 | 2 | Jan 25, 2022 |
COL18A1 | 20 | Jan 25, 2022 |
COL3A1 | 3 | Jan 25, 2022 |
COL4A1 | 3 | Jan 24, 2022 |
COL4A2 | 1 | Jan 24, 2022 |
COL4A3 | 5 | Mar 9, 2023 |
COL4A4 | 2 | Mar 9, 2023 |
COL5A1 | 1 | Jul 5, 2017 |
COL6A1 | 37 | Jan 25, 2022 |
COL6A2 | 32 | Mar 9, 2023 |
COL6A3 | 65 | Jan 25, 2022 |
COLQ | 5 | Jul 5, 2017 |
COQ2 | 4 | Mar 9, 2023 |
COQ4 | 1 | Jun 27, 2014 |
COQ6 | 4 | Jul 5, 2017 |
COQ8A | 16 | Jan 24, 2022 |
COQ8B | 6 | Mar 9, 2023 |
COX15 | 1 | Jun 27, 2014 |
CP | 22 | Jan 25, 2022 |
CPA6 | 6 | Jan 23, 2022 |
CPAP | 68 | Jan 25, 2022 |
CPLANE1 | 69 | Mar 9, 2023 |
CPS1 | 6 | Sep 15, 2015 |
CRADD | 3 | Jan 25, 2022 |
CRB2 | 15 | Mar 9, 2023 |
CRBN | 20 | Jan 25, 2022 |
CREBBP | 142 | Mar 9, 2023 |
CRIPT | 1 | Jan 25, 2022 |
CRPPA | 11 | Mar 6, 2020 |
CRPPA-AS1 | 3 | Sep 15, 2015 |
CRYAB | 1 | Jul 5, 2017 |
CSF3R | 54 | Mar 9, 2023 |
CSPP1 | 12 | Mar 9, 2023 |
CST3 | 3 | Mar 9, 2023 |
CSTB | 2 | Sep 15, 2015 |
CTBP1 | 1 | Jan 23, 2022 |
CTBP1-AS | 1 | Jan 23, 2022 |
CTC1 | 70 | Mar 9, 2023 |
CTCF | 13 | Jan 25, 2022 |
CTDP1 | 2 | Oct 4, 2017 |
CTLA4 | 3 | Mar 9, 2023 |
CTNNA1 | 4 | Mar 9, 2023 |
CTNNB1 | 19 | Mar 9, 2023 |
CTPS1 | 7 | Mar 9, 2023 |
CTSA | 1 | Sep 15, 2015 |
CTSD | 8 | Jun 27, 2014 |
CTSF | 2 | Jul 5, 2017 |
CUL4B | 11 | Jan 25, 2022 |
CUL7 | 2 | Jan 25, 2022 |
CWF19L1 | 4 | Jun 27, 2014 |
CXCR4 | 11 | Mar 9, 2023 |
CYB561D2 | 1 | Jan 25, 2022 |
CYB5A | 2 | Jan 25, 2022 |
CYBA | 1 | Jan 24, 2022 |
CYP11A1 | 6 | Jan 25, 2022 |
CYP11B1 | 5 | Jan 25, 2022 |
CYP17A1 | 4 | Jan 25, 2022 |
CYP21A2 | 1 | Jul 5, 2017 |
CYP24A1 | 2 | Jan 25, 2022 |
CYP27A1 | 2 | Jul 5, 2017 |
CYP7B1 | 2 | Jan 24, 2022 |
CZ1P-ASNS | 7 | Jan 25, 2022 |
D2HGDH | 54 | Dec 5, 2022 |
DAG1 | 9 | Jan 25, 2022 |
DARS2 | 3 | Jul 5, 2017 |
DBT | 5 | Jan 24, 2022 |
DCAF17 | 10 | Mar 9, 2023 |
DCDC2 | 3 | Jan 25, 2022 |
DCLRE1B | 2 | Sep 11, 2014 |
DCPS | 1 | Jan 25, 2022 |
DCX | 112 | Jan 25, 2022 |
DDHD2 | 21 | Jan 25, 2022 |
DDX11 | 3 | Mar 9, 2023 |
DDX3X | 2 | Jan 25, 2022 |
DDX41 | 82 | Mar 9, 2023 |
DEAF1 | 19 | Jan 25, 2022 |
DEPDC5 | 5 | Jan 24, 2022 |
DES | 14 | Jul 5, 2017 |
DGKE | 5 | Jan 25, 2022 |
DHCR24 | 5 | Jan 25, 2022 |
DHCR7 | 19 | Jan 25, 2022 |
DHFR | 4 | Mar 9, 2023 |
DHH | 3 | Jan 25, 2022 |
DHODH | 2 | Jun 27, 2014 |
DHX37 | 3 | Mar 9, 2023 |
DIAPH1 | 4 | Jan 25, 2022 |
DICER1 | 16 | Mar 9, 2023 |
DIPK1A | 15 | Mar 9, 2023 |
DIS3 | 11 | Mar 9, 2023 |
DIS3L2 | 9 | Mar 9, 2023 |
DKC1 | 20 | Jan 25, 2022 |
DLAT | 4 | Jul 5, 2017 |
DLG3 | 15 | Jan 25, 2022 |
DLG3-AS1 | 5 | Oct 4, 2017 |
DM1-AS | 2 | Mar 9, 2023 |
DMAC2L | 5 | Jan 25, 2022 |
DMD | 7 | Jan 25, 2022 |
DMP1 | 1 | Jul 5, 2017 |
DMPK | 4 | Jun 27, 2014 |
DMRTA2 | 5 | Jan 25, 2022 |
DNA2 | 4 | Jan 25, 2022 |
DNAI1 | 1 | Jan 25, 2022 |
DNAJB1 | 2 | Jul 5, 2017 |
DNAJB11 | 1 | Mar 9, 2023 |
DNAJC21 | 27 | Mar 9, 2023 |
DNAJC3 | 2 | Jan 25, 2022 |
DNM1 | 3 | Jan 25, 2022 |
DNM2 | 29 | Oct 4, 2017 |
DNMT1 | 2 | Jan 23, 2022 |
DNMT3A | 12 | Jan 25, 2022 |
DNMT3B | 2 | Jan 25, 2022 |
DOCK6 | 1 | Jan 24, 2022 |
DOCK7 | 3 | Jan 25, 2022 |
DOCK8 | 46 | Mar 9, 2023 |
DOK7 | 20 | Jan 25, 2022 |
DOLK | 2 | Jan 24, 2022 |
DOP1A | 1 | Mar 9, 2023 |
DPAGT1 | 1 | Apr 30, 2014 |
DPM2 | 4 | Jun 27, 2014 |
DPYD | 4 | Jan 24, 2022 |
DPYD-AS1 | 1 | Jan 24, 2022 |
DSE | 2 | Mar 9, 2023 |
DSP | 1 | Jan 24, 2022 |
DTNBP1 | 11 | Jan 25, 2022 |
DUOX2 | 4 | Jan 25, 2022 |
DUT | 1 | Jan 25, 2022 |
DUT-AS1 | 1 | Jan 25, 2022 |
DVL1 | 1 | Jan 24, 2022 |
DYNC1H1 | 136 | Jan 25, 2022 |
DYNC2H1 | 31 | Mar 9, 2023 |
DYNC2I1 | 1 | Jul 5, 2017 |
DYNC2LI1 | 11 | Jan 25, 2022 |
DYRK1A | 28 | Jan 25, 2022 |
DYRK1B | 10 | Jan 25, 2022 |
DYSF | 38 | Jan 25, 2022 |
DZIP1L | 2 | Mar 9, 2023 |
EBF3 | 3 | Jan 24, 2022 |
EBP | 35 | Jan 25, 2022 |
ECEL1 | 19 | Mar 6, 2020 |
EEF1A2 | 2 | Jan 25, 2022 |
EEF2 | 3 | Jul 5, 2017 |
EFCAB13-DT | 1 | Jan 25, 2022 |
EFHC1 | 20 | Jan 25, 2022 |
EFL1 | 5 | Mar 9, 2023 |
EFNB1 | 6 | Jan 25, 2022 |
EFTUD2 | 12 | Jan 25, 2022 |
EGFR | 13 | Mar 9, 2023 |
EGLN1 | 1 | Jul 5, 2017 |
EHMT1 | 66 | Jan 25, 2022 |
EIF2AK3 | 24 | Jan 25, 2022 |
EIF2AK3-AS1 | 10 | Jan 25, 2022 |
EIF2AK3-DT | 1 | Jan 25, 2022 |
EIF2B1 | 1 | Mar 9, 2023 |
EIF2B3 | 2 | Sep 15, 2015 |
EIF2B4 | 2 | Jun 27, 2014 |
EIF2B5 | 2 | Jan 24, 2022 |
EIF2S3 | 7 | Jan 25, 2022 |
ELAC2 | 1 | Jan 23, 2022 |
ELANE | 25 | Mar 9, 2023 |
ELOVL4 | 2 | Jan 24, 2022 |
ELOVL5 | 1 | Sep 15, 2015 |
EMD | 1 | Jul 5, 2017 |
EML1 | 1 | Jan 25, 2022 |
ENG | 13 | Mar 9, 2023 |
ENPP1 | 3 | Jan 25, 2022 |
ENTPD5 | 4 | Jul 5, 2017 |
EOMES | 1 | Sep 15, 2015 |
EP300 | 49 | Mar 9, 2023 |
EPAS1 | 1 | Jul 5, 2017 |
EPB41L1 | 30 | Jan 25, 2022 |
EPCAM | 11 | Mar 9, 2023 |
EPG5 | 1 | Sep 15, 2015 |
EPHA2 | 1 | Jul 5, 2017 |
EPM2A | 5 | Oct 4, 2017 |
EPM2A-DT | 2 | Oct 4, 2017 |
ERCC2 | 1 | Jul 5, 2017 |
ERCC3 | 1 | Jan 24, 2022 |
ERCC4 | 53 | Mar 9, 2023 |
ERCC5 | 7 | Jan 24, 2022 |
ERCC6 | 19 | Mar 9, 2023 |
ERCC6L2 | 31 | Mar 9, 2023 |
ERCC8 | 1 | Jun 27, 2014 |
ERF | 2 | Jul 5, 2017 |
ERLIN2 | 11 | Jan 25, 2022 |
ERMARD | 10 | Jan 25, 2022 |
ESCO2 | 13 | Jan 25, 2022 |
ESR1 | 4 | Jul 5, 2017 |
ESR2 | 5 | Mar 6, 2020 |
ETHE1 | 2 | Jul 5, 2017 |
ETV6 | 43 | Mar 9, 2023 |
EVC | 4 | Jan 25, 2022 |
EVC2 | 4 | Jan 25, 2022 |
EXO1 | 1 | Jul 5, 2017 |
EXOSC3 | 11 | Jan 25, 2022 |
EYA1 | 3 | Mar 9, 2023 |
EZH2 | 15 | Jan 25, 2022 |
EZR | 21 | Jan 25, 2022 |
FA2H | 11 | Jan 25, 2022 |
FAM111A | 4 | Jan 25, 2022 |
FAM20A | 1 | Mar 9, 2023 |
FAM20C | 1 | Jan 25, 2022 |
FANCA | 166 | Mar 9, 2023 |
FANCB | 27 | Jan 25, 2022 |
FANCC | 52 | Mar 9, 2023 |
FANCD2 | 69 | Mar 9, 2023 |
FANCD2OS | 15 | Mar 9, 2023 |
FANCE | 26 | Mar 9, 2023 |
FANCF | 30 | Jan 25, 2022 |
FANCG | 26 | Jan 25, 2022 |
FANCI | 75 | Mar 9, 2023 |
FANCL | 28 | Mar 9, 2023 |
FANCM | 57 | Mar 9, 2023 |
FARS2 | 1 | Jan 24, 2022 |
FAS | 6 | Jan 25, 2022 |
FASLG | 1 | Jan 25, 2022 |
FAT2 | 2 | Jan 23, 2022 |
FAT4 | 25 | Mar 9, 2023 |
FBN1 | 6 | Mar 9, 2023 |
FBN2 | 37 | Jan 25, 2022 |
FBXL3 | 9 | Jan 23, 2022 |
FBXL4 | 1 | Jan 24, 2022 |
FBXO11 | 1 | Jan 25, 2022 |
FBXO31 | 9 | Jan 25, 2022 |
FEZF1 | 4 | Jan 25, 2022 |
FEZF1-AS1 | 1 | Jan 25, 2022 |
FGA | 7 | Mar 9, 2023 |
FGF12 | 2 | Jan 25, 2022 |
FGF17 | 1 | Jan 25, 2022 |
FGF8 | 2 | Jul 5, 2017 |
FGFR1 | 10 | Mar 9, 2023 |
FGFR2 | 9 | Mar 9, 2023 |
FGFR3 | 10 | Jan 25, 2022 |
FH | 15 | Mar 9, 2023 |
FHL1 | 1 | Jul 5, 2017 |
FIG4 | 4 | Mar 9, 2023 |
FIGLA | 1 | Jan 25, 2022 |
FKRP | 29 | Jan 25, 2022 |
FKTN | 15 | Jan 25, 2022 |
FLCN | 3 | Mar 9, 2023 |
FLI1 | 4 | Jan 25, 2022 |
FLNA | 109 | Mar 9, 2023 |
FLNC | 33 | Jan 25, 2022 |
FLNC-AS1 | 12 | Jan 25, 2022 |
FLVCR1 | 2 | Jun 27, 2014 |
FLVCR2 | 1 | Mar 9, 2023 |
FMN2 | 32 | Jan 25, 2022 |
FMR1 | 11 | Jan 25, 2022 |
FOLR1 | 5 | Jan 25, 2022 |
FOXA2 | 7 | Jan 25, 2022 |
FOXE1 | 1 | Jul 5, 2017 |
FOXG1 | 44 | Jan 25, 2022 |
FOXL2 | 2 | Mar 9, 2023 |
FOXP1 | 27 | Jan 25, 2022 |
FOXP2 | 2 | Jan 25, 2022 |
FOXP3 | 15 | Jan 25, 2022 |
FOXRED1 | 1 | Oct 4, 2017 |
FRAS1 | 28 | Mar 9, 2023 |
FREM2 | 16 | Jan 25, 2022 |
FRMPD4 | 27 | Jan 25, 2022 |
FSHB | 1 | Jan 25, 2022 |
FTCD | 6 | Jun 27, 2014 |
FTL | 3 | Jan 23, 2022 |
FTSJ1 | 6 | Jan 25, 2022 |
FXN | 3 | Jan 24, 2022 |
FXYD2 | 1 | Jan 25, 2022 |
FXYD6-FXYD2 | 1 | Jan 25, 2022 |
FYB1 | 4 | Mar 9, 2023 |
G6PC3 | 11 | Feb 18, 2022 |
GAA | 34 | Dec 5, 2022 |
GABRA1 | 6 | Jul 5, 2017 |
GABRB3 | 2 | Jan 23, 2022 |
GABRG2 | 5 | Jun 27, 2014 |
GALC | 3 | Jan 24, 2022 |
GALNT12 | 2 | Jan 25, 2022 |
GAMT | 7 | Jan 25, 2022 |
GAN | 1 | Jun 27, 2014 |
GANAB | 1 | Mar 9, 2023 |
GAREM2 | 3 | Jan 25, 2022 |
GATA1 | 10 | Jan 25, 2022 |
GATA2 | 70 | Mar 9, 2023 |
GATA2-AS1 | 8 | Jan 25, 2022 |
GATA3 | 2 | Jan 25, 2022 |
GATA4 | 13 | Jan 25, 2022 |
GATA6 | 12 | Jan 25, 2022 |
GATAD1 | 1 | Jan 25, 2022 |
GATAD2B | 16 | Jan 25, 2022 |
GATM | 2 | Jun 27, 2014 |
GBA1 | 1 | Sep 15, 2015 |
GBA2 | 2 | Jan 23, 2022 |
GBE1 | 3 | Mar 6, 2020 |
GCDH | 3 | Jan 24, 2022 |
GCK | 102 | Mar 9, 2023 |
GCM2 | 5 | Mar 9, 2023 |
GDI1 | 14 | Jan 25, 2022 |
GEN1 | 1 | Jul 5, 2017 |
GFAP | 1 | Jan 23, 2022 |
GFI1 | 27 | Mar 9, 2023 |
GFI1B | 8 | Jan 25, 2022 |
GFPT1 | 7 | Jul 5, 2017 |
GH-LCR | 23 | Oct 4, 2017 |
GJA1 | 6 | Jan 25, 2022 |
GJB2 | 36 | Oct 4, 2017 |
GJC2 | 1 | Jul 5, 2017 |
GJD2-DT | 1 | Jan 24, 2022 |
GLB1 | 4 | Jan 24, 2022 |
GLI2 | 5 | Jan 25, 2022 |
GLI3 | 21 | Jan 25, 2022 |
GLIS2 | 3 | Mar 9, 2023 |
GLIS3 | 22 | Mar 9, 2023 |
GLIS3-AS1 | 2 | Mar 9, 2023 |
GLUD1 | 19 | Dec 5, 2022 |
GMPPB | 4 | Jan 24, 2022 |
GNA11 | 5 | Jan 25, 2022 |
GNAO1 | 3 | Jan 25, 2022 |
GNAS | 15 | Jan 25, 2022 |
GNPAT | 2 | Sep 15, 2015 |
GNRHR | 4 | Mar 9, 2023 |
GOSR2 | 2 | Sep 15, 2015 |
GP1BA | 18 | Jan 25, 2022 |
GP1BB | 5 | Jan 25, 2022 |
GP9 | 2 | Jan 25, 2022 |
GPAA1 | 2 | Jan 24, 2022 |
GPC3 | 3 | Jan 25, 2022 |
GPC4 | 1 | Jan 25, 2022 |
GPD1 | 1 | Jan 25, 2022 |
GPLD1 | 1 | Jul 5, 2017 |
GPR143 | 8 | Mar 9, 2023 |
GPR82 | 1 | Sep 11, 2014 |
GPSM2 | 7 | Jan 25, 2022 |
GREM1 | 1 | Jan 25, 2022 |
GRIA3 | 7 | Mar 6, 2020 |
GRIK2 | 32 | Jan 25, 2022 |
GRIK3 | 1 | Jul 5, 2017 |
GRIN1 | 21 | Jan 25, 2022 |
GRIN2A | 44 | Mar 9, 2023 |
GRIN2B | 42 | Jan 25, 2022 |
GRIP1 | 3 | Jan 25, 2022 |
GRM1 | 5 | Jun 27, 2014 |
GRN | 2 | Jan 23, 2022 |
GSEC | 1 | Jan 25, 2022 |
GSKIP | 1 | Mar 9, 2023 |
GSN | 14 | Mar 9, 2023 |
GTF3C2-AS2 | 2 | Jun 27, 2014 |
GYS1 | 1 | Sep 11, 2014 |
HADH | 9 | Jan 25, 2022 |
HADHA | 4 | Jan 25, 2022 |
HAX1 | 16 | Feb 18, 2022 |
HBB | 2 | Dec 5, 2022 |
HCCS | 5 | Jan 25, 2022 |
HCFC1 | 49 | Jan 25, 2022 |
HCN1 | 2 | Jan 25, 2022 |
HDAC8 | 14 | Mar 9, 2023 |
HEPACAM | 4 | Jan 25, 2022 |
HERC1 | 10 | Jan 25, 2022 |
HEXA | 6 | Mar 9, 2023 |
HEXB | 6 | Oct 4, 2017 |
HFE | 3 | Apr 26, 2018 |
HFE-AS1 | 1 | Apr 26, 2018 |
HFM1 | 2 | Jul 5, 2017 |
HIBCH | 1 | Jan 24, 2022 |
HIVEP2 | 8 | Jan 25, 2022 |
HLCS | 1 | Jun 27, 2014 |
HMBS | 1 | Apr 30, 2014 |
HNF1A | 81 | Mar 9, 2023 |
HNF1B | 18 | Mar 9, 2023 |
HNF4A | 62 | Mar 9, 2023 |
HNRNPU | 2 | Jan 25, 2022 |
HNRNPUL2-BSCL2 | 9 | Jan 25, 2022 |
HOGA1 | 1 | Mar 9, 2023 |
HOXA1 | 1 | Jan 25, 2022 |
HOXA11 | 3 | Mar 9, 2023 |
HOXA13 | 3 | Jan 25, 2022 |
HOXB13 | 3 | Mar 9, 2023 |
HPRT1 | 3 | Jan 25, 2022 |
HPS1 | 23 | Jan 25, 2022 |
HPS3 | 7 | Jan 25, 2022 |
HPS4 | 11 | Jan 25, 2022 |
HPS5 | 14 | Jan 25, 2022 |
HPS6 | 14 | Jan 25, 2022 |
HRAS | 2 | Mar 9, 2023 |
HSD11B1 | 1 | Jul 5, 2017 |
HSD11B1-AS1 | 1 | Jul 5, 2017 |
HSD17B10 | 6 | Jan 25, 2022 |
HSD17B3 | 8 | Jan 25, 2022 |
HSD17B3-AS1 | 5 | Jan 25, 2022 |
HSD17B4 | 1 | Jan 24, 2022 |
HSD3B2 | 4 | Mar 9, 2023 |
HSPD1 | 3 | Jun 27, 2014 |
HUWE1 | 57 | Jan 25, 2022 |
IDH2 | 20 | Dec 5, 2022 |
IDH2-DT | 1 | Jan 25, 2022 |
IER3IP1 | 3 | Jan 25, 2022 |
IFIH1 | 1 | Jul 5, 2017 |
IFT122 | 9 | Jan 25, 2022 |
IFT140 | 11 | Jan 25, 2022 |
IFT172 | 24 | Mar 9, 2023 |
IFT74 | 8 | Mar 9, 2023 |
IGBP1 | 5 | Jan 25, 2022 |
IGF1R | 1 | Jan 25, 2022 |
IKZF1 | 17 | Feb 18, 2022 |
IL11RA | 3 | Jan 25, 2022 |
IL17RD | 5 | Mar 9, 2023 |
IL1RAPL1 | 6 | Jan 25, 2022 |
IL2RA | 3 | Jan 25, 2022 |
IL4I1 | 5 | Sep 15, 2015 |
INF2 | 6 | Mar 9, 2023 |
INPP5E | 25 | Mar 9, 2023 |
INS | 45 | Mar 9, 2023 |
INS-IGF2 | 33 | Mar 9, 2023 |
INSL6 | 18 | Mar 9, 2023 |
INSR | 74 | Mar 9, 2023 |
INVS | 4 | Mar 9, 2023 |
IQCB1 | 3 | Jan 25, 2022 |
IQCG | 2 | Jul 5, 2017 |
IQSEC2 | 30 | Jan 25, 2022 |
IRF2BPL | 1 | Jan 24, 2022 |
IRF6 | 1 | Jul 5, 2017 |
ITCH | 2 | Jan 25, 2022 |
ITGA2B | 13 | Jan 25, 2022 |
ITGA7 | 19 | Jul 5, 2017 |
ITGB3 | 17 | Jan 25, 2022 |
ITK | 9 | Mar 9, 2023 |
ITPA | 1 | Jan 25, 2022 |
ITPR1 | 13 | Jan 24, 2022 |
IYD | 2 | Jul 5, 2017 |
JAG1 | 6 | Mar 9, 2023 |
JAK2 | 18 | Mar 9, 2023 |
JMJD8 | 5 | Mar 9, 2023 |
KAAG1 | 1 | Jan 25, 2022 |
KANK1 | 1 | Jan 23, 2022 |
KAT6A | 3 | Jan 25, 2022 |
KAT6B | 1 | Sep 15, 2015 |
KATNB1 | 16 | Jan 25, 2022 |
KATNIP | 6 | Mar 9, 2023 |
KBTBD13 | 11 | Jan 25, 2022 |
KCNA1 | 4 | Jul 5, 2017 |
KCNA2 | 1 | Jan 24, 2022 |
KCNC3 | 5 | Jan 24, 2022 |
KCND3 | 3 | Jul 5, 2017 |
KCNH5 | 4 | Jan 25, 2022 |
KCNJ10 | 17 | Jan 25, 2022 |
KCNJ11 | 75 | Jan 25, 2022 |
KCNMA1 | 15 | Jan 25, 2022 |
KCNMA1-AS1 | 7 | Jan 25, 2022 |
KCNN2 | 1 | Jan 23, 2022 |
KCNQ1 | 1 | Sep 15, 2015 |
KCNQ2 | 27 | Jan 25, 2022 |
KCNQ3 | 10 | Oct 4, 2017 |
KCNT1 | 30 | Jan 25, 2022 |
KCTD7 | 4 | Sep 15, 2015 |
KDM1A | 6 | Mar 9, 2023 |
KDM5C | 21 | Jan 25, 2022 |
KDM6A | 22 | Jan 25, 2022 |
KIAA0586 | 10 | Mar 9, 2023 |
KIDINS220 | 5 | Jan 25, 2022 |
KIF11 | 28 | Jan 25, 2022 |
KIF14 | 10 | Mar 9, 2023 |
KIF1A | 92 | Jan 25, 2022 |
KIF1B | 4 | Jul 5, 2017 |
KIF1C | 1 | Jul 5, 2017 |
KIF2A | 3 | Jan 25, 2022 |
KIF4A | 2 | Jul 5, 2017 |
KIF5A | 1 | Jan 23, 2022 |
KIF5C | 2 | Jan 25, 2022 |
KIF7 | 32 | Mar 9, 2023 |
KIFBP | 16 | Jan 25, 2022 |
KIRREL3 | 30 | Jan 25, 2022 |
KIRREL3-AS1 | 3 | Mar 6, 2020 |
KISS1R | 2 | Mar 9, 2023 |
KIT | 12 | Mar 9, 2023 |
KLF11 | 16 | Mar 9, 2023 |
KLF8 | 2 | Oct 4, 2017 |
KLHDC8B | 3 | Mar 9, 2023 |
KLHL40 | 2 | Jan 25, 2022 |
KLHL41 | 1 | Jan 25, 2022 |
KLLN | 27 | Jan 25, 2022 |
KMT2A | 27 | Jan 25, 2022 |
KMT2B | 1 | Jan 23, 2022 |
KMT2D | 245 | Mar 9, 2023 |
KNL1 | 71 | Mar 9, 2023 |
KPTN | 14 | Jan 25, 2022 |
KRT5 | 1 | Jul 5, 2017 |
KRTCAP3 | 1 | Jan 25, 2022 |
KSR2 | 3 | Jan 25, 2022 |
L1CAM | 35 | Dec 5, 2022 |
L2HGDH | 30 | Jan 25, 2022 |
LAMA1 | 3 | Jul 5, 2017 |
LAMA2 | 71 | Jan 25, 2022 |
LAMB1 | 24 | Jan 25, 2022 |
LAMB2 | 2 | Jan 25, 2022 |
LAMC3 | 77 | Jan 25, 2022 |
LARGE1 | 30 | Mar 6, 2020 |
LARP7 | 5 | Jan 25, 2022 |
LARS2 | 1 | Jan 24, 2022 |
LARS2-AS1 | 1 | Jan 24, 2022 |
LDB3 | 2 | Jul 5, 2017 |
LDLR | 3 | Jan 25, 2022 |
LDLRAP1 | 1 | Jan 25, 2022 |
LEP | 2 | Jan 25, 2022 |
LEPR | 13 | Mar 9, 2023 |
LGI1 | 1 | Apr 30, 2014 |
LHCGR | 8 | Mar 9, 2023 |
LHX3 | 1 | Mar 9, 2023 |
LIG4 | 24 | Mar 9, 2023 |
LINS1 | 21 | Jan 25, 2022 |
LIPC | 1 | Jan 25, 2022 |
LIPE | 16 | Mar 9, 2023 |
LIPE-AS1 | 16 | Mar 9, 2023 |
LIX1L-AS1 | 4 | Feb 18, 2022 |
LMBRD1 | 1 | Jan 24, 2022 |
LMNA | 65 | Dec 5, 2022 |
LMNB1 | 2 | Jan 25, 2022 |
LMNB2 | 9 | Jan 25, 2022 |
LMOD3 | 3 | Jan 25, 2022 |
LOC100130587 | 2 | Jun 27, 2014 |
LOC100287944 | 2 | Sep 15, 2015 |
LOC100507346 | 5 | Mar 9, 2023 |
LOC101927055 | 12 | Jul 5, 2017 |
LOC101927078 | 1 | Jan 23, 2022 |
LOC101928008 | 10 | Jan 25, 2022 |
LOC101928051 | 1 | Jul 5, 2017 |
LOC101928335 | 5 | Jan 25, 2022 |
LOC101929710 | 11 | Jan 25, 2022 |
LOC101930071 | 8 | Jan 25, 2022 |
LOC102723566 | 8 | Mar 9, 2023 |
LOC102724058 | 24 | Jan 25, 2022 |
LOC105369149 | 9 | Jan 25, 2022 |
LOC105371046 | 3 | Jan 25, 2022 |
LOC105371566 | 1 | Jul 5, 2017 |
LOC105377102 | 1 | Jan 25, 2022 |
LOC106099062 | 2 | Dec 5, 2022 |
LOC106627981 | 1 | Sep 15, 2015 |
LOC106721785 | 5 | Jan 25, 2022 |
LOC106736614 | 1 | Jan 25, 2022 |
LOC106780800 | 1 | Jul 5, 2017 |
LOC106799833 | 3 | Jan 25, 2022 |
LOC107075317 | 3 | Mar 9, 2023 |
LOC107126281 | 1 | Mar 9, 2023 |
LOC107126288 | 3 | Jan 25, 2022 |
LOC107133510 | 2 | Dec 5, 2022 |
LOC107303338 | 53 | Mar 9, 2023 |
LOC107303340 | 5 | Jan 25, 2022 |
LOC107303343 | 3 | Jan 25, 2022 |
LOC107548112 | 1 | Jan 25, 2022 |
LOC107982234 | 5 | Jan 25, 2022 |
LOC107985033 | 2 | Jan 25, 2022 |
LOC108021846 | 1 | Jan 25, 2022 |
LOC108281134 | 1 | Jan 25, 2022 |
LOC108281177 | 1 | Jan 25, 2022 |
LOC108491825 | 1 | Jan 25, 2022 |
LOC108663984 | 4 | Mar 9, 2023 |
LOC108663987 | 4 | Sep 15, 2015 |
LOC108663993 | 10 | Sep 15, 2015 |
LOC108663996 | 4 | Sep 15, 2015 |
LOC109461484 | 5 | Mar 6, 2020 |
LOC109504725 | 6 | Oct 4, 2017 |
LOC109610631 | 17 | Jan 25, 2022 |
LOC109611589 | 4 | Jan 25, 2022 |
LOC109623489 | 4 | Jan 25, 2022 |
LOC110011216 | 3 | Mar 9, 2023 |
LOC110121471 | 5 | Jan 25, 2022 |
LOC110806263 | 15 | Mar 9, 2023 |
LOC110806306 | 22 | Mar 9, 2023 |
LOC111589215 | 8 | Jan 25, 2022 |
LOC111674477 | 1 | Jun 27, 2014 |
LOC111721705 | 4 | Jan 25, 2022 |
LOC112486223 | 6 | Mar 9, 2023 |
LOC112533671 | 3 | Dec 5, 2022 |
LOC112533672 | 2 | Mar 9, 2023 |
LOC112997540 | 2 | Mar 9, 2023 |
LOC113839516 | 1 | Jul 5, 2017 |
LOC113845788 | 2 | Jan 25, 2022 |
LOC114803470 | 1 | Sep 15, 2015 |
LOC114803475 | 3 | Jan 25, 2022 |
LOC115308161 | 21 | Jan 25, 2022 |
LOC119407405 | 1 | Jan 25, 2022 |
LOC121530580 | 1 | Jan 25, 2022 |
LOC121627832 | 2 | Jul 5, 2017 |
LOC121627969 | 3 | Jul 5, 2017 |
LOC121852963 | 1 | Jul 5, 2017 |
LOC121853052 | 1 | Sep 11, 2014 |
LOC122094844 | 1 | Jan 25, 2022 |
LOC122787137 | 1 | Jan 25, 2022 |
LOC123864065 | 6 | Jan 25, 2022 |
LOC124629423 | 1 | Sep 15, 2015 |
LOC125467768 | 4 | Jul 5, 2017 |
LOC126805576 | 1 | Jun 27, 2014 |
LOC126805612 | 2 | Jan 25, 2022 |
LOC126805670 | 5 | Mar 9, 2023 |
LOC126805822 | 2 | Jul 5, 2017 |
LOC126805851 | 6 | Feb 18, 2022 |
LOC126805877 | 8 | Jan 25, 2022 |
LOC126806063 | 1 | Jul 5, 2017 |
LOC126806069 | 2 | Jul 5, 2017 |
LOC126806173 | 3 | Jan 25, 2022 |
LOC126806174 | 2 | Jan 25, 2022 |
LOC126806252 | 3 | Jan 25, 2022 |
LOC126806253 | 3 | Jul 5, 2017 |
LOC126806420 | 4 | Jan 25, 2022 |
LOC126806421 | 2 | Jun 27, 2014 |
LOC126806423 | 2 | Jun 27, 2014 |
LOC126806424 | 3 | Jul 5, 2017 |
LOC126806425 | 6 | Sep 15, 2015 |
LOC126806426 | 2 | Sep 15, 2015 |
LOC126806427 | 5 | Jun 27, 2014 |
LOC126806428 | 5 | Oct 4, 2017 |
LOC126806429 | 3 | Jan 25, 2022 |
LOC126806430 | 6 | Jul 5, 2017 |
LOC126806431 | 3 | Mar 6, 2020 |
LOC126806433 | 1 | Apr 30, 2014 |
LOC126806462 | 2 | Jan 25, 2022 |
LOC126806516 | 1 | Jul 5, 2017 |
LOC126806573 | 2 | Apr 30, 2014 |
LOC126806583 | 3 | Jan 25, 2022 |
LOC126806590 | 2 | Jun 27, 2014 |
LOC126806629 | 1 | Jan 25, 2022 |
LOC126806630 | 1 | Jul 5, 2017 |
LOC126806658 | 7 | Jan 25, 2022 |
LOC126806659 | 2 | Jul 5, 2017 |
LOC126806689 | 2 | Jan 25, 2022 |
LOC126806710 | 2 | Jul 5, 2017 |
LOC126806714 | 2 | Sep 15, 2015 |
LOC126806830 | 1 | Jan 25, 2022 |
LOC126806961 | 1 | Jul 5, 2017 |
LOC126807088 | 1 | Jan 25, 2022 |
LOC126807392 | 2 | Jan 25, 2022 |
LOC126807501 | 1 | Jun 27, 2014 |
LOC126807619 | 11 | Sep 15, 2015 |
LOC126859771 | 3 | Jul 5, 2017 |
LOC126859837 | 1 | Jan 25, 2022 |
LOC126859852 | 1 | Jul 5, 2017 |
LOC126860130 | 4 | Sep 15, 2015 |
LOC126860131 | 2 | Jul 5, 2017 |
LOC126860216 | 1 | Mar 6, 2020 |
LOC126860303 | 2 | Jul 5, 2017 |
LOC126860342 | 1 | Jan 25, 2022 |
LOC126860403 | 5 | Jan 25, 2022 |
LOC126860438 | 3 | Jan 25, 2022 |
LOC126860469 | 5 | Jan 25, 2022 |
LOC126860498 | 1 | Jun 27, 2014 |
LOC126860552 | 4 | Mar 9, 2023 |
LOC126860777 | 3 | Oct 4, 2017 |
LOC126860797 | 3 | Mar 9, 2023 |
LOC126860802 | 3 | Jan 25, 2022 |
LOC126860933 | 2 | Jul 5, 2017 |
LOC126860970 | 1 | Jul 5, 2017 |
LOC126861109 | 3 | Jul 5, 2017 |
LOC126861232 | 3 | Jan 25, 2022 |
LOC126861339 | 2 | Jan 25, 2022 |
LOC126861451 | 2 | Jan 25, 2022 |
LOC126861452 | 6 | Jan 25, 2022 |
LOC126861509 | 1 | Sep 15, 2015 |
LOC126861520 | 12 | Jan 25, 2022 |
LOC126861535 | 2 | Jul 5, 2017 |
LOC126861666 | 1 | Jan 25, 2022 |
LOC126861801 | 2 | Jul 5, 2017 |
LOC126861897 | 4 | Jan 24, 2022 |
LOC126861898 | 2 | Sep 15, 2015 |
LOC126861936 | 2 | Jan 25, 2022 |
LOC126862060 | 8 | Jul 5, 2017 |
LOC126862115 | 1 | Jun 27, 2014 |
LOC126862216 | 3 | Jan 24, 2022 |
LOC126862260 | 1 | Jun 27, 2014 |
LOC126862323 | 1 | Mar 9, 2023 |
LOC126862390 | 1 | Jun 27, 2014 |
LOC126862483 | 2 | Jul 5, 2017 |
LOC126862493 | 1 | Sep 15, 2015 |
LOC126862494 | 5 | Sep 15, 2015 |
LOC126862549 | 5 | Jan 25, 2022 |
LOC126862570 | 1 | Jan 25, 2022 |
LOC126862571 | 19 | Mar 9, 2023 |
LOC126862578 | 1 | Jun 27, 2014 |
LOC126862757 | 2 | Jul 5, 2017 |
LOC126862798 | 13 | Jan 25, 2022 |
LOC126862866 | 2 | Jul 5, 2017 |
LOC126862902 | 5 | Oct 4, 2017 |
LOC126862987 | 1 | Jan 25, 2022 |
LOC126863137 | 1 | Jan 25, 2022 |
LOC126863158 | 3 | Sep 15, 2015 |
LOC126863188 | 2 | Jan 25, 2022 |
LOC126863207 | 2 | Jul 5, 2017 |
LOC126863212 | 1 | Sep 15, 2015 |
LOC126863239 | 14 | Jan 25, 2022 |
LOC126863256 | 1 | Jan 25, 2022 |
LOC126863262 | 1 | Jul 5, 2017 |
LOC126863263 | 3 | Jul 5, 2017 |
LOC126863275 | 3 | Jan 25, 2022 |
LOC127407129 | 2 | Jan 25, 2022 |
LOC127898564 | 1 | Jan 25, 2022 |
LOC128092249 | 4 | Oct 4, 2017 |
LOC129389274 | 1 | Sep 11, 2014 |
LOC129390514 | 5 | Jan 25, 2022 |
LOC129390903 | 1 | Jan 25, 2022 |
LOC129391106 | 1 | Sep 11, 2014 |
LOC129929037 | 1 | Mar 9, 2023 |
LOC129929078 | 1 | Jan 25, 2022 |
LOC129929673 | 1 | Jan 25, 2022 |
LOC129929837 | 8 | Jan 25, 2022 |
LOC129930253 | 1 | Jul 5, 2017 |
LOC129930930 | 2 | Jan 25, 2022 |
LOC129930989 | 2 | Jan 25, 2022 |
LOC129931218 | 3 | Jan 25, 2022 |
LOC129931235 | 2 | Sep 11, 2014 |
LOC129931597 | 3 | Jul 5, 2017 |
LOC129932155 | 3 | Sep 11, 2014 |
LOC129932405 | 1 | Mar 9, 2023 |
LOC129932486 | 1 | Jun 27, 2014 |
LOC129932761 | 1 | Jan 25, 2022 |
LOC129933280 | 1 | Jul 5, 2017 |
LOC129933707 | 1 | Mar 9, 2023 |
LOC129934925 | 3 | Mar 6, 2020 |
LOC129935068 | 2 | Jan 25, 2022 |
LOC129935172 | 1 | Sep 11, 2014 |
LOC129935183 | 6 | Jul 5, 2017 |
LOC129935184 | 2 | Jul 5, 2017 |
LOC129935185 | 1 | Jan 25, 2022 |
LOC129935417 | 1 | Jun 27, 2014 |
LOC129936031 | 1 | Sep 11, 2014 |
LOC129936032 | 1 | Sep 11, 2014 |
LOC129936033 | 4 | Jul 5, 2017 |
LOC129936390 | 1 | Sep 15, 2015 |
LOC129936434 | 2 | Jun 27, 2014 |
LOC129936665 | 1 | Jan 25, 2022 |
LOC129936736 | 1 | Mar 9, 2023 |
LOC129936904 | 1 | Jan 25, 2022 |
LOC129936926 | 1 | Jan 25, 2022 |
LOC129937517 | 3 | Jan 25, 2022 |
LOC129937550 | 2 | Jan 25, 2022 |
LOC129937586 | 1 | Jul 5, 2017 |
LOC129992118 | 1 | Apr 30, 2014 |
LOC129992144 | 1 | Jul 5, 2017 |
LOC129992585 | 1 | Jul 5, 2017 |
LOC129992625 | 5 | Jan 25, 2022 |
LOC129992813 | 1 | Jan 25, 2022 |
LOC129993054 | 1 | Jul 5, 2017 |
LOC129993792 | 1 | Mar 9, 2023 |
LOC129993885 | 1 | Jun 27, 2014 |
LOC129993918 | 7 | Jan 25, 2022 |
LOC129993961 | 1 | Jul 5, 2017 |
LOC129994460 | 1 | Jan 24, 2022 |
LOC129995144 | 1 | Jan 24, 2022 |
LOC129995978 | 2 | Jul 5, 2017 |
LOC129996245 | 5 | Jan 25, 2022 |
LOC129996517 | 1 | Jul 5, 2017 |
LOC129997307 | 1 | Jan 23, 2022 |
LOC129997381 | 2 | Oct 4, 2017 |
LOC129997480 | 1 | Jun 27, 2014 |
LOC129997523 | 4 | Jan 25, 2022 |
LOC129997524 | 1 | Sep 15, 2015 |
LOC129997525 | 3 | Jul 5, 2017 |
LOC129998004 | 1 | Jul 5, 2017 |
LOC129998005 | 2 | Mar 6, 2020 |
LOC129998533 | 1 | Apr 30, 2014 |
LOC129999169 | 1 | Jun 27, 2014 |
LOC129999736 | 2 | Sep 15, 2015 |
LOC130001411 | 3 | Jan 25, 2022 |
LOC130001468 | 6 | Jan 25, 2022 |
LOC130001471 | 1 | Jun 27, 2014 |
LOC130001603 | 1 | Jan 25, 2022 |
LOC130001862 | 1 | Jun 27, 2014 |
LOC130001875 | 1 | Mar 9, 2023 |
LOC130002133 | 5 | Jan 25, 2022 |
LOC130002651 | 1 | Jul 5, 2017 |
LOC130003079 | 2 | Sep 15, 2015 |
LOC130003121 | 1 | Jul 5, 2017 |
LOC130003148 | 1 | Mar 6, 2020 |
LOC130003232 | 1 | Jan 25, 2022 |
LOC130003278 | 1 | Jan 25, 2022 |
LOC130003554 | 11 | Mar 9, 2023 |
LOC130003862 | 1 | Jul 5, 2017 |
LOC130003959 | 3 | Oct 4, 2017 |
LOC130004025 | 1 | Jun 27, 2014 |
LOC130004144 | 2 | Jan 25, 2022 |
LOC130004254 | 2 | Jan 25, 2022 |
LOC130004255 | 1 | Jan 25, 2022 |
LOC130004271 | 1 | Jan 25, 2022 |
LOC130004273 | 12 | Jan 25, 2022 |
LOC130004274 | 1 | Jan 25, 2022 |
LOC130004408 | 3 | Jan 25, 2022 |
LOC130004578 | 2 | Jan 25, 2022 |
LOC130004825 | 1 | Jul 5, 2017 |
LOC130006099 | 1 | Jan 25, 2022 |
LOC130006596 | 2 | Apr 30, 2014 |
LOC130006700 | 4 | Jan 25, 2022 |
LOC130006895 | 5 | Jan 25, 2022 |
LOC130008148 | 1 | Jan 25, 2022 |
LOC130008642 | 1 | Jul 5, 2017 |
LOC130008755 | 1 | Sep 11, 2014 |
LOC130008792 | 2 | Jun 27, 2014 |
LOC130009166 | 1 | Jan 25, 2022 |
LOC130009266 | 2 | Jan 25, 2022 |
LOC130009913 | 2 | Jun 27, 2014 |
LOC130055403 | 1 | Jan 25, 2022 |
LOC130055524 | 1 | Jan 25, 2022 |
LOC130055602 | 3 | Jan 25, 2022 |
LOC130055850 | 1 | Jan 25, 2022 |
LOC130056175 | 2 | Jul 5, 2017 |
LOC130056326 | 1 | Sep 11, 2014 |
LOC130056921 | 1 | Jun 27, 2014 |
LOC130057886 | 1 | Jul 5, 2017 |
LOC130058357 | 2 | Sep 15, 2015 |
LOC130058543 | 2 | Mar 9, 2023 |
LOC130059131 | 1 | Jan 25, 2022 |
LOC130059224 | 1 | Jan 25, 2022 |
LOC130059440 | 1 | Jul 5, 2017 |
LOC130059759 | 3 | Oct 4, 2017 |
LOC130059794 | 6 | Jan 25, 2022 |
LOC130059837 | 4 | Jan 25, 2022 |
LOC130060041 | 3 | Jan 25, 2022 |
LOC130060044 | 1 | Jan 25, 2022 |
LOC130060313 | 1 | Sep 11, 2014 |
LOC130060455 | 1 | Jul 5, 2017 |
LOC130060959 | 4 | Jan 25, 2022 |
LOC130061044 | 1 | Jan 25, 2022 |
LOC130061271 | 1 | Jan 25, 2022 |
LOC130061627 | 1 | Jan 24, 2022 |
LOC130061940 | 2 | Jan 25, 2022 |
LOC130062441 | 1 | Jan 25, 2022 |
LOC130062899 | 1 | Jan 25, 2022 |
LOC130062945 | 1 | Sep 15, 2015 |
LOC130063169 | 1 | Jun 27, 2014 |
LOC130063317 | 1 | Jan 25, 2022 |
LOC130063353 | 1 | Sep 15, 2015 |
LOC130064183 | 3 | Mar 9, 2023 |
LOC130064357 | 1 | Sep 11, 2014 |
LOC130065309 | 1 | Jun 27, 2014 |
LOC130065433 | 1 | Sep 15, 2015 |
LOC130065546 | 1 | Jan 25, 2022 |
LOC130065547 | 1 | Mar 9, 2023 |
LOC130066081 | 2 | Jan 25, 2022 |
LOC130066788 | 1 | Jun 27, 2014 |
LOC130067862 | 2 | Jun 27, 2014 |
LOC130068055 | 1 | Jan 25, 2022 |
LOC130068281 | 1 | Sep 15, 2015 |
LOC130068308 | 1 | Jul 5, 2017 |
LOC130068396 | 1 | Jan 25, 2022 |
LOC130068460 | 3 | Jan 25, 2022 |
LOC130068746 | 1 | Oct 4, 2017 |
LOC130068747 | 1 | Sep 15, 2015 |
LOC130068760 | 1 | Sep 15, 2015 |
LOC130068842 | 1 | Jul 5, 2017 |
LOC130068854 | 1 | Jan 25, 2022 |
LOC130068886 | 5 | Jan 25, 2022 |
LOC132090445 | 1 | Jan 25, 2022 |
LOC132090450 | 3 | Jan 25, 2022 |
LOC132090521 | 1 | Jan 25, 2022 |
LPL | 1 | Jan 25, 2022 |
LRBA | 34 | Mar 9, 2023 |
LRMDA | 1 | Jul 5, 2017 |
LRP2 | 81 | Jan 25, 2022 |
LRP4 | 5 | Jan 25, 2022 |
LRP4-AS1 | 1 | Jan 25, 2022 |
LRP5 | 10 | Mar 9, 2023 |
LRPPRC | 5 | Jan 24, 2022 |
LRRC37A2 | 2 | Sep 15, 2015 |
LRRC56 | 2 | Mar 9, 2023 |
LRSAM1 | 1 | Jan 24, 2022 |
LURAP1L-AS1 | 12 | Jan 25, 2022 |
LYST | 29 | Jan 25, 2022 |
LYZ | 3 | Jan 25, 2022 |
LZTR1 | 1 | Mar 9, 2023 |
MAF | 7 | Jan 25, 2022 |
MAFA | 4 | Mar 9, 2023 |
MAG | 1 | Jan 25, 2022 |
MAGEL2 | 36 | Jan 25, 2022 |
MAGI2 | 23 | Jan 25, 2022 |
MAGI2-AS3 | 1 | Apr 30, 2014 |
MAGT1 | 6 | Mar 9, 2023 |
MAK16 | 2 | Jan 25, 2022 |
MAMLD1 | 6 | Jan 25, 2022 |
MAN1B1 | 47 | Jan 25, 2022 |
MAN2B1 | 6 | Jan 24, 2022 |
MAOA | 12 | Jan 25, 2022 |
MAP2K2 | 1 | Jan 25, 2022 |
MAP3K1 | 17 | Mar 9, 2023 |
MAPK10 | 4 | Sep 15, 2015 |
MAPK10-AS1 | 1 | Sep 15, 2015 |
MAPKBP1 | 8 | Mar 9, 2023 |
MAX | 3 | Jan 25, 2022 |
MBD4 | 13 | Jan 25, 2022 |
MBD5 | 31 | Jan 25, 2022 |
MC4R | 14 | Jan 25, 2022 |
MCM7 | 1 | Sep 15, 2015 |
MCM9 | 2 | Mar 9, 2023 |
MCOLN1 | 1 | Jan 24, 2022 |
MCPH1 | 99 | Mar 9, 2023 |
MCPH1-AS1 | 26 | Oct 4, 2017 |
MEA1 | 2 | Jan 25, 2022 |
MECOM | 31 | Mar 9, 2023 |
MECP2 | 122 | Jan 25, 2022 |
MED12 | 37 | Jan 25, 2022 |
MED13L | 1 | Jan 25, 2022 |
MED17 | 24 | Jan 25, 2022 |
MED23 | 20 | Jan 25, 2022 |
MED25 | 5 | Jan 25, 2022 |
MEF2C | 15 | Jan 25, 2022 |
MEF2C-AS2 | 2 | Sep 15, 2015 |
MEGF10 | 2 | Jan 25, 2022 |
MEGF8 | 5 | Jan 25, 2022 |
MEN1 | 14 | Jan 25, 2022 |
MET | 9 | Mar 9, 2023 |
METTL23 | 7 | Jan 25, 2022 |
METTL5 | 3 | Mar 9, 2023 |
MFF-DT | 5 | Mar 9, 2023 |
MFSD2A | 6 | Jan 25, 2022 |
MFSD8 | 5 | Oct 4, 2017 |
MHRT | 6 | Jan 24, 2022 |
MID1 | 19 | Jan 25, 2022 |
MID2 | 6 | Jan 25, 2022 |
MIF4GD-DT | 5 | Jul 5, 2017 |
MIR302CHG | 4 | Jan 25, 2022 |
MITF | 6 | Mar 9, 2023 |
MKKS | 11 | Jan 25, 2022 |
MKS1 | 27 | Mar 9, 2023 |
MLC1 | 10 | Jan 24, 2022 |
MLH1 | 53 | Mar 9, 2023 |
MLPH | 10 | Jan 25, 2022 |
MMAA | 1 | Jan 24, 2022 |
MMAB | 1 | Jun 27, 2014 |
MMACHC | 1 | Jul 5, 2017 |
MMADHC | 1 | Jan 24, 2022 |
MME | 2 | Mar 9, 2023 |
MMUT | 2 | Jul 5, 2017 |
MNX1 | 10 | Jan 25, 2022 |
MNX1-AS2 | 4 | Jan 25, 2022 |
MPDZ | 26 | Jan 25, 2022 |
MPI | 8 | Mar 9, 2023 |
MPL | 42 | Mar 9, 2023 |
MPZ | 1 | Jun 27, 2014 |
MR1 | 2 | Jun 27, 2014 |
MRE11 | 3 | Jan 25, 2022 |
MRPL36 | 1 | Sep 15, 2015 |
MRTFA | 19 | Mar 9, 2023 |
MSH2 | 74 | Mar 9, 2023 |
MSH3 | 15 | Mar 9, 2023 |
MSH6 | 88 | Mar 9, 2023 |
MSTO1 | 4 | Mar 9, 2023 |
MSX2 | 2 | Jan 25, 2022 |
MTFMT | 2 | Jan 24, 2022 |
MTM1 | 160 | Jan 25, 2022 |
MTOR | 5 | Jan 25, 2022 |
MTPAP | 1 | Jun 27, 2014 |
MTRFR | 1 | Jun 27, 2014 |
MTTP | 7 | Jul 5, 2017 |
MUSK | 13 | Jul 5, 2017 |
MUTYH | 28 | Mar 9, 2023 |
MVK | 5 | Jul 5, 2017 |
MVP-DT | 6 | Oct 4, 2017 |
MYBPC1 | 14 | Jul 5, 2017 |
MYEF2 | 3 | Jan 25, 2022 |
MYF6 | 1 | Jul 5, 2017 |
MYH11 | 7 | Sep 15, 2015 |
MYH2 | 3 | Jan 25, 2022 |
MYH3 | 36 | Dec 5, 2022 |
MYH7 | 26 | Jan 25, 2022 |
MYH8 | 28 | Jan 25, 2022 |
MYH9 | 17 | Jan 25, 2022 |
MYHAS | 31 | Jan 25, 2022 |
MYO15A | 2 | Jan 24, 2022 |
MYO1E | 3 | Mar 9, 2023 |
MYO5A | 11 | Oct 4, 2017 |
MYO5B | 1 | Jan 25, 2022 |
MYO7A | 1 | Jan 24, 2022 |
MYOT | 3 | Jun 27, 2014 |
MYRF | 2 | Jan 25, 2022 |
MYT1L | 3 | Jan 25, 2022 |
NAA10 | 2 | Jul 5, 2017 |
NAF1 | 18 | Mar 9, 2023 |
NAGA | 1 | Jul 5, 2017 |
NALCN | 3 | Jan 25, 2022 |
NBEAL2 | 32 | Jan 25, 2022 |
NBN | 52 | Mar 9, 2023 |
NDE1 | 27 | Oct 4, 2017 |
NDST1 | 31 | Jan 25, 2022 |
NDUFA10 | 2 | Jun 27, 2014 |
NDUFA9 | 1 | Jun 27, 2014 |
NDUFAF1 | 4 | Mar 6, 2020 |
NDUFAF2 | 1 | Jun 27, 2014 |
NDUFAF4 | 2 | Jun 27, 2014 |
NDUFAF5 | 2 | Sep 15, 2015 |
NDUFAF6 | 1 | Sep 15, 2015 |
NDUFB3 | 2 | Jan 24, 2022 |
NDUFS1 | 2 | Jun 27, 2014 |
NDUFS2 | 2 | Jun 27, 2014 |
NDUFS4 | 3 | Jun 27, 2014 |
NDUFS6 | 1 | Sep 15, 2015 |
NDUFS7 | 3 | Jun 27, 2014 |
NDUFV2 | 2 | Jun 27, 2014 |
NEB | 101 | Jan 25, 2022 |
NEDD4L | 1 | Jan 25, 2022 |
NEK1 | 8 | Jan 25, 2022 |
NEK8 | 1 | Mar 9, 2023 |
NEU1 | 2 | Jul 5, 2017 |
NEUROD1 | 3 | Jan 25, 2022 |
NEUROG3 | 3 | Jul 5, 2017 |
NEXMIF | 24 | Mar 6, 2020 |
NF1 | 96 | Mar 9, 2023 |
NF2 | 6 | Mar 9, 2023 |
NFIA | 4 | Jul 5, 2017 |
NFIX | 5 | Jan 25, 2022 |
NHEJ1 | 4 | Jul 5, 2017 |
NHLRC1 | 4 | Jan 24, 2022 |
NHP2 | 16 | Mar 9, 2023 |
NHS | 35 | Jan 25, 2022 |
NIN | 62 | Jan 25, 2022 |
NIPA1 | 2 | Sep 15, 2015 |
NIPBL | 350 | Dec 5, 2022 |
NKIRAS1 | 8 | Mar 9, 2023 |
NKX2-1 | 2 | Mar 6, 2020 |
NKX2-2 | 4 | Jan 25, 2022 |
NKX2-5 | 14 | Oct 4, 2017 |
NLGN3 | 15 | Jan 25, 2022 |
NLGN4X | 14 | Jan 25, 2022 |
NLRC4 | 1 | Jan 25, 2022 |
NONO | 1 | Jan 25, 2022 |
NOP10 | 4 | Jan 25, 2022 |
NOP56 | 5 | Jun 27, 2014 |
NOTCH2 | 9 | Mar 9, 2023 |
NOTCH3 | 1 | Jul 5, 2017 |
NPAT | 48 | Mar 9, 2023 |
NPC1 | 14 | Jan 25, 2022 |
NPHP1 | 12 | Mar 9, 2023 |
NPHP3 | 8 | Mar 9, 2023 |
NPHP3-ACAD11 | 9 | Mar 9, 2023 |
NPHP3-AS1 | 1 | Jul 5, 2017 |
NPHP4 | 12 | Mar 9, 2023 |
NPHS1 | 2 | Mar 9, 2023 |
NPHS2 | 3 | Mar 9, 2023 |
NPM1 | 3 | Mar 9, 2023 |
NR0B1 | 3 | Jan 25, 2022 |
NR0B2 | 3 | Jan 25, 2022 |
NR2F1 | 1 | Jan 25, 2022 |
NR2F2 | 1 | Mar 9, 2023 |
NR3C2 | 2 | Mar 9, 2023 |
NR5A1 | 14 | Mar 9, 2023 |
NRAS | 1 | Sep 15, 2015 |
NRXN1 | 66 | Dec 5, 2022 |
NRXN2 | 53 | Jan 25, 2022 |
NSD1 | 269 | Mar 9, 2023 |
NSD2 | 1 | Jul 5, 2017 |
NSDHL | 21 | Jan 25, 2022 |
NSMF | 4 | Mar 9, 2023 |
NSUN2 | 40 | Jan 25, 2022 |
NT5DC4 | 1 | Mar 9, 2023 |
NTHL1 | 4 | Mar 9, 2023 |
NTRK2 | 12 | Jan 25, 2022 |
NUDC | 3 | Jan 25, 2022 |
NUP62 | 5 | Sep 15, 2015 |
OBSL1 | 2 | Jan 25, 2022 |
OCA2 | 45 | Mar 9, 2023 |
OCLN | 12 | Jan 25, 2022 |
OCRL | 16 | Mar 9, 2023 |
OFD1 | 34 | Mar 9, 2023 |
OPA1 | 1 | Jul 5, 2017 |
OPA3 | 1 | Jun 27, 2014 |
OPHN1 | 22 | Jan 25, 2022 |
ORC1 | 34 | Jan 25, 2022 |
ORC4 | 15 | Jan 25, 2022 |
ORC6 | 8 | Jul 5, 2017 |
OTC | 2 | Jan 25, 2022 |
OTUD4 | 1 | Sep 15, 2015 |
OXTR | 3 | Jun 27, 2014 |
PACS1 | 35 | Jan 25, 2022 |
PAFAH1B1 | 111 | Dec 5, 2022 |
PAH | 2 | Jan 24, 2022 |
PAK3 | 7 | Jan 25, 2022 |
PALB2 | 76 | Mar 9, 2023 |
PALLD | 1 | Sep 15, 2015 |
PANK2 | 2 | Mar 9, 2023 |
PARN | 40 | Mar 9, 2023 |
PAX4 | 19 | Mar 9, 2023 |
PAX5 | 30 | Mar 9, 2023 |
PAX8 | 2 | Jul 5, 2017 |
PAX8-AS1 | 2 | Jul 5, 2017 |
PC | 2 | Jul 5, 2017 |
PCDH19 | 44 | Dec 5, 2022 |
PCLO | 5 | Jan 25, 2022 |
PCNT | 413 | Mar 9, 2023 |
PCSK1 | 11 | Jan 25, 2022 |
PCSK9 | 2 | Jan 25, 2022 |
PDE4D | 2 | Jan 25, 2022 |
PDGFRA | 10 | Mar 9, 2023 |
PDGFRB | 1 | Jan 23, 2022 |
PDHA1 | 5 | Jan 25, 2022 |
PDHB | 1 | Jun 27, 2014 |
PDSS1 | 2 | Mar 9, 2023 |
PDX1 | 14 | Mar 9, 2023 |
PDYN | 5 | Jan 23, 2022 |
PDYN-AS1 | 5 | Jan 23, 2022 |
PDZD7 | 1 | Jan 24, 2022 |
PEX1 | 5 | Mar 9, 2023 |
PEX10 | 3 | Jul 5, 2017 |
PEX12 | 1 | Jan 24, 2022 |
PEX16 | 1 | Jan 24, 2022 |
PEX2 | 1 | Sep 15, 2015 |
PEX6 | 1 | Jul 5, 2017 |
PEX7 | 6 | Jul 5, 2017 |
PFAS | 3 | Feb 18, 2022 |
PFN1 | 1 | Jan 23, 2022 |
PGAP1 | 15 | Jan 25, 2022 |
PGBD3 | 2 | Jan 25, 2022 |
PGM1 | 8 | Jan 25, 2022 |
PGM3 | 5 | Mar 9, 2023 |
PHC1 | 15 | Jan 25, 2022 |
PHF6 | 4 | Sep 15, 2015 |
PHF8 | 11 | Jan 25, 2022 |
PHGDH | 2 | Jan 25, 2022 |
PHIP | 3 | Jan 25, 2022 |
PHOX2B | 5 | Mar 9, 2023 |
PHOX2B-AS1 | 1 | Mar 9, 2023 |
PHYH | 4 | Jan 24, 2022 |
PI4KA | 4 | Jan 25, 2022 |
PIBF1 | 2 | Jan 25, 2022 |
PIEZO2 | 7 | Jan 25, 2022 |
PIGA | 1 | Sep 15, 2015 |
PIGG | 1 | Mar 9, 2023 |
PIGL | 19 | Sep 11, 2014 |
PIK3CA | 2 | Jan 25, 2022 |
PIK3CD | 18 | Mar 9, 2023 |
PIK3R1 | 17 | Dec 5, 2022 |
PIK3R2 | 6 | Jan 25, 2022 |
PIK3R5 | 7 | Mar 6, 2020 |
PKD1 | 22 | Mar 9, 2023 |
PKD1-AS1 | 1 | Mar 9, 2023 |
PKD2 | 9 | Mar 9, 2023 |
PKD2L2-DT | 3 | Jun 27, 2014 |
PKHD1 | 14 | Mar 9, 2023 |
PLA2G6 | 72 | Jan 25, 2022 |
PLCB1 | 26 | Mar 6, 2020 |
PLEC | 118 | Mar 9, 2023 |
PLEKHG4 | 3 | Jun 27, 2014 |
PLIN1 | 16 | Mar 9, 2023 |
PLK4 | 10 | Jan 25, 2022 |
PLP1 | 6 | Jan 25, 2022 |
PLUT | 3 | Jan 25, 2022 |
PMM2 | 21 | Mar 9, 2023 |
PMP22 | 1 | Sep 15, 2015 |
PMS1 | 10 | Jan 25, 2022 |
PMS2 | 84 | Mar 9, 2023 |
PNKP | 63 | Jan 25, 2022 |
PNP | 1 | Mar 9, 2023 |
PNPLA6 | 4 | Jan 24, 2022 |
PNPO | 6 | Jan 25, 2022 |
POC1A | 6 | Sep 15, 2015 |
POGZ | 1 | Jul 5, 2017 |
POLD1 | 56 | Jan 25, 2022 |
POLE | 74 | Mar 9, 2023 |
POLG | 37 | Mar 9, 2023 |
POLGARF | 37 | Mar 9, 2023 |
POLR1C | 6 | Jan 24, 2022 |
POLR3A | 9 | Jan 24, 2022 |
POLR3B | 6 | Sep 15, 2015 |
POMC | 11 | Mar 9, 2023 |
POMGNT1 | 19 | Jan 25, 2022 |
POMGNT2 | 19 | Dec 5, 2022 |
POMK | 7 | Jan 25, 2022 |
POMT1 | 36 | Jan 25, 2022 |
POMT2 | 21 | Jan 25, 2022 |
POR | 10 | Mar 9, 2023 |
POT1 | 43 | Mar 9, 2023 |
PPARG | 28 | Jan 25, 2022 |
PPP1R15B | 8 | Mar 9, 2023 |
PPP1R3A | 1 | Jul 5, 2017 |
PPP2R5D | 2 | Jan 25, 2022 |
PPT1 | 7 | Jan 24, 2022 |
PQBP1 | 6 | Jan 25, 2022 |
PRADX | 2 | Jun 27, 2014 |
PRDM9 | 3 | Jul 5, 2017 |
PREPL | 5 | Jan 25, 2022 |
PRF1 | 16 | Mar 9, 2023 |
PRICKLE1 | 10 | Sep 15, 2015 |
PRICKLE2 | 7 | Sep 15, 2015 |
PRICKLE2-AS3 | 1 | Jun 27, 2014 |
PRKACG | 3 | Jan 25, 2022 |
PRKAR1A | 5 | Mar 9, 2023 |
PRKCG | 8 | Jan 24, 2022 |
PRKCSH | 4 | Mar 9, 2023 |
PRKN | 2 | Jan 24, 2022 |
PRMT7 | 6 | Mar 9, 2023 |
PRNP | 2 | Jan 24, 2022 |
PROK2 | 2 | Jan 25, 2022 |
PROKR2 | 4 | Mar 9, 2023 |
PROP1 | 1 | Jul 5, 2017 |
PRPH2 | 1 | Jan 24, 2022 |
PRPS1 | 2 | Jan 25, 2022 |
PRRT2 | 6 | Oct 4, 2017 |
PRSS12 | 39 | Jan 25, 2022 |
PRSS37 | 1 | Jul 5, 2017 |
PRX | 6 | Jun 27, 2014 |
PSAT1 | 1 | Jan 24, 2022 |
PSMB8 | 3 | Jan 25, 2022 |
PSMD12 | 1 | Jan 25, 2022 |
PTCH1 | 24 | Mar 9, 2023 |
PTCHD1 | 17 | Jan 25, 2022 |
PTEN | 59 | Mar 9, 2023 |
PTF1A | 5 | Jan 25, 2022 |
PTH | 1 | Jan 25, 2022 |
PTH1R | 2 | Mar 9, 2023 |
PTPN11 | 20 | Jan 25, 2022 |
PTPRJ | 4 | Mar 9, 2023 |
PTS | 1 | Jul 5, 2017 |
PURA | 6 | Jan 25, 2022 |
PYCR2 | 8 | Jan 25, 2022 |
PYGM | 1 | Jan 25, 2022 |
QARS1 | 3 | Mar 9, 2023 |
QDPR | 2 | Jan 24, 2022 |
R3HDML-AS1 | 13 | Jan 25, 2022 |
RAB18 | 6 | Jan 25, 2022 |
RAB23 | 2 | Jul 5, 2017 |
RAB27A | 2 | Jul 5, 2017 |
RAB39B | 5 | Jul 5, 2017 |
RAB3GAP1 | 31 | Jan 25, 2022 |
RAB3GAP2 | 34 | Jan 25, 2022 |
RAB9B | 6 | Jan 25, 2022 |
RAC1 | 1 | Jan 24, 2022 |
RAD21 | 14 | Jan 23, 2022 |
RAD50 | 16 | Jan 25, 2022 |
RAD51 | 13 | Jan 25, 2022 |
RAD51C | 20 | Mar 9, 2023 |
RAD51D | 14 | Mar 9, 2023 |
RAD51L3-RFFL | 14 | Mar 9, 2023 |
RAI1 | 83 | Mar 9, 2023 |
RAPSN | 7 | Jan 25, 2022 |
RARS2 | 17 | Jan 24, 2022 |
RASGRP1 | 5 | Mar 9, 2023 |
RB1 | 4 | Mar 9, 2023 |
RBBP6 | 25 | Mar 9, 2023 |
RBBP8 | 30 | Mar 9, 2023 |
RBM10 | 1 | Jul 5, 2017 |
RBM8A | 8 | Feb 18, 2022 |
RECQL4 | 68 | Mar 9, 2023 |
REEP1 | 1 | Jun 27, 2014 |
RELN | 121 | Jan 25, 2022 |
REN | 1 | Jan 25, 2022 |
RERE | 1 | Mar 9, 2023 |
RET | 44 | Mar 9, 2023 |
RFT1 | 1 | Jan 24, 2022 |
RFX6 | 22 | Mar 9, 2023 |
RIF1 | 22 | Jan 24, 2022 |
RIN2 | 17 | Jan 25, 2022 |
RIPK4 | 6 | Jan 25, 2022 |
RIT1 | 1 | Jan 25, 2022 |
RLIG1 | 1 | Jun 27, 2014 |
RLIM | 1 | Jul 5, 2017 |
RMND5B | 4 | Jan 25, 2022 |
RNASEH1 | 1 | Jan 23, 2022 |
RNASET2 | 1 | Jul 5, 2017 |
RNF125 | 1 | Jul 5, 2017 |
RNF135 | 4 | Jan 25, 2022 |
RNF17 | 9 | Sep 15, 2015 |
RNF170 | 1 | Apr 30, 2014 |
RNF216 | 2 | Sep 15, 2015 |
RNF43 | 4 | Jan 25, 2022 |
RNU4ATAC | 2 | Jan 25, 2022 |
ROGDI | 1 | Jun 27, 2014 |
ROR2 | 21 | Jan 25, 2022 |
RP1L1 | 1 | Jan 24, 2022 |
RPGRIP1L | 25 | Mar 9, 2023 |
RPL10 | 2 | Jun 27, 2014 |
RPL11 | 3 | Jan 25, 2022 |
RPL15 | 8 | Mar 9, 2023 |
RPL23 | 2 | Jan 25, 2022 |
RPL26 | 2 | Mar 9, 2023 |
RPL27 | 2 | Mar 9, 2023 |
RPL31 | 1 | Jan 25, 2022 |
RPL35 | 1 | Mar 9, 2023 |
RPL35A | 2 | Jul 5, 2017 |
RPL5 | 17 | Mar 9, 2023 |
RPS10 | 6 | Jan 25, 2022 |
RPS10-NUDT3 | 6 | Jan 25, 2022 |
RPS17 | 1 | Mar 9, 2023 |
RPS19 | 12 | Mar 9, 2023 |
RPS24 | 9 | Jan 25, 2022 |
RPS26 | 7 | Jan 25, 2022 |
RPS27 | 1 | Jan 25, 2022 |
RPS6KA3 | 14 | Jan 25, 2022 |
RPS7 | 5 | Jan 25, 2022 |
RRM2B | 1 | Jan 24, 2022 |
RS1 | 10 | Jan 25, 2022 |
RSPO1 | 1 | Jan 25, 2022 |
RTEL1 | 76 | Mar 9, 2023 |
RTEL1-TNFRSF6B | 76 | Mar 9, 2023 |
RTN2 | 1 | Jun 27, 2014 |
RTN4IP1 | 1 | Jan 23, 2022 |
RTTN | 71 | Jan 25, 2022 |
RUBCN | 4 | Jun 27, 2014 |
RUNX1 | 44 | Jan 25, 2022 |
RUNX1-AS1 | 5 | Jan 25, 2022 |
RUNX2 | 4 | Jan 25, 2022 |
RUVBL1 | 1 | Mar 9, 2023 |
RXYLT1 | 3 | Jul 5, 2017 |
RYR1 | 174 | Jan 25, 2022 |
RYR2 | 1 | Jan 24, 2022 |
SACS | 24 | Jan 25, 2022 |
SALL1 | 5 | Jan 25, 2022 |
SALL4 | 1 | Jan 23, 2022 |
SAMD9 | 103 | Mar 9, 2023 |
SAMD9L | 75 | Mar 9, 2023 |
SASS6 | 7 | Jan 25, 2022 |
SATB2 | 3 | Jan 25, 2022 |
SBDS | 11 | Mar 9, 2023 |
SBF2 | 35 | Jan 25, 2022 |
SBF2-AS1 | 10 | Jan 25, 2022 |
SCAMP4 | 15 | Jan 25, 2022 |
SCARB2 | 1 | Jan 25, 2022 |
SCARF2 | 5 | Jan 25, 2022 |
SCN11A | 1 | Jul 5, 2017 |
SCN1A | 39 | Jan 25, 2022 |
SCN1A-AS1 | 27 | Jul 5, 2017 |
SCN1B | 7 | Jul 5, 2017 |
SCN2A | 72 | Jan 25, 2022 |
SCN4A | 31 | Jan 25, 2022 |
SCN5A | 1 | Jan 23, 2022 |
SCN8A | 26 | Jan 25, 2022 |
SCN9A | 30 | Jul 5, 2017 |
SCNN1B | 2 | Mar 9, 2023 |
SCO2 | 2 | Jun 27, 2014 |
SDCCAG8 | 17 | Jan 25, 2022 |
SDHA | 40 | Mar 9, 2023 |
SDHAF2 | 5 | Jan 25, 2022 |
SDHB | 9 | Jan 25, 2022 |
SDHC | 4 | Jan 25, 2022 |
SDHD | 10 | Mar 9, 2023 |
SEC23B | 1 | Jan 25, 2022 |
SEC61A1 | 1 | Mar 9, 2023 |
SEC63 | 1 | Mar 9, 2023 |
SELENON | 12 | Oct 4, 2017 |
SEMA3A | 3 | Jan 25, 2022 |
SEPSECS | 8 | Mar 6, 2020 |
SEPT5-GP1BB | 5 | Jan 25, 2022 |
SERPING1 | 1 | Mar 9, 2023 |
SETBP1 | 30 | Mar 9, 2023 |
SETD2 | 24 | Jan 25, 2022 |
SETD5 | 21 | Jan 25, 2022 |
SETX | 12 | Jan 23, 2022 |
SF3B4 | 10 | Jan 25, 2022 |
SFTA3 | 2 | Mar 6, 2020 |
SFXN4 | 1 | Jul 5, 2017 |
SGCA | 5 | Jul 5, 2017 |
SGCB | 2 | Jan 25, 2022 |
SGCD | 3 | Jun 27, 2014 |
SGCE | 1 | Jul 5, 2017 |
SGCG | 6 | Jan 25, 2022 |
SGPL1 | 2 | Mar 9, 2023 |
SH2B1 | 2 | Jan 25, 2022 |
SH2B3 | 13 | Mar 9, 2023 |
SH2D1A | 3 | Jan 25, 2022 |
SH3TC2 | 7 | Jan 24, 2022 |
SHANK2 | 44 | Jan 25, 2022 |
SHANK3 | 18 | Jan 25, 2022 |
SHH | 1 | Jul 5, 2017 |
SHLD2 | 1 | Jan 25, 2022 |
SHOC2 | 1 | Sep 15, 2015 |
SHROOM4 | 30 | Dec 5, 2022 |
SIL1 | 2 | Jan 25, 2022 |
SIM1 | 9 | Jan 25, 2022 |
SIM1-AS1 | 2 | Jan 25, 2022 |
SIN3A | 4 | Jan 25, 2022 |
SIX5 | 6 | Mar 9, 2023 |
SKI | 3 | Jan 25, 2022 |
SLA | 1 | Jul 5, 2017 |
SLC12A1 | 1 | Mar 9, 2023 |
SLC12A6 | 19 | Jul 5, 2017 |
SLC13A5 | 3 | Jan 25, 2022 |
SLC16A1 | 17 | Mar 9, 2023 |
SLC16A2 | 28 | Jan 25, 2022 |
SLC17A5 | 2 | Jan 24, 2022 |
SLC19A1 | 9 | Jan 25, 2022 |
SLC19A2 | 5 | Mar 9, 2023 |
SLC19A3 | 10 | Jan 24, 2022 |
SLC1A1 | 1 | Sep 15, 2015 |
SLC1A2 | 1 | Jan 25, 2022 |
SLC1A3 | 2 | Jul 5, 2017 |
SLC1A4 | 6 | Mar 9, 2023 |
SLC20A2 | 3 | Jan 23, 2022 |
SLC24A5 | 4 | Jan 25, 2022 |
SLC25A1 | 9 | Jan 25, 2022 |
SLC25A19 | 14 | Jan 25, 2022 |
SLC25A22 | 20 | Jul 5, 2017 |
SLC26A2 | 1 | Jul 5, 2017 |
SLC26A4 | 3 | Jan 25, 2022 |
SLC26A5-AS1 | 19 | Jan 25, 2022 |
SLC29A3 | 16 | Sep 15, 2015 |
SLC2A1 | 46 | Jan 25, 2022 |
SLC2A2 | 7 | Jan 25, 2022 |
SLC30A6 | 1 | Jan 25, 2022 |
SLC33A1 | 1 | Jan 23, 2022 |
SLC34A1 | 1 | Mar 9, 2023 |
SLC34A3 | 3 | Jul 5, 2017 |
SLC35A1 | 1 | Jun 27, 2014 |
SLC35D2-HSD17B3 | 8 | Jan 25, 2022 |
SLC36A1 | 2 | Jan 23, 2022 |
SLC3A1 | 3 | Mar 9, 2023 |
SLC45A2 | 16 | Jan 25, 2022 |
SLC4A1 | 1 | Mar 9, 2023 |
SLC4A4 | 1 | Mar 9, 2023 |
SLC52A2 | 1 | Sep 15, 2015 |
SLC6A1 | 1 | Jan 24, 2022 |
SLC6A17 | 14 | Jan 25, 2022 |
SLC6A17-AS1 | 1 | Jan 25, 2022 |
SLC6A19 | 5 | Jul 5, 2017 |
SLC6A8 | 24 | Jan 25, 2022 |
SLC9A6 | 25 | Jan 25, 2022 |
SLFN14 | 6 | Jan 25, 2022 |
SLX4 | 146 | Mar 9, 2023 |
SMAD4 | 14 | Mar 9, 2023 |
SMAD6 | 1 | Jul 5, 2017 |
SMARCA2 | 41 | Jan 25, 2022 |
SMARCA4 | 83 | Mar 9, 2023 |
SMARCB1 | 10 | Jan 25, 2022 |
SMARCC2 | 1 | Jan 25, 2022 |
SMARCE1 | 4 | Jan 25, 2022 |
SMC1A | 44 | Jan 25, 2022 |
SMC3 | 36 | Jan 25, 2022 |
SMC5 | 1 | Mar 9, 2023 |
SMPD1 | 1 | Sep 15, 2015 |
SMPD4 | 2 | Mar 9, 2023 |
SMS | 3 | Sep 15, 2015 |
SNAP29 | 10 | Jan 25, 2022 |
SNHG14 | 79 | Mar 9, 2023 |
SNHG8 | 1 | Oct 4, 2017 |
SOBP | 34 | Jan 25, 2022 |
SOD1 | 1 | Jul 5, 2017 |
SON | 4 | Jan 25, 2022 |
SOS1 | 5 | Jan 25, 2022 |
SOX11 | 7 | Jan 25, 2022 |
SOX2 | 1 | Jan 25, 2022 |
SOX2-OT | 1 | Jan 25, 2022 |
SOX3 | 2 | Jan 25, 2022 |
SOX9 | 3 | Mar 9, 2023 |
SPART | 1 | Jun 27, 2014 |
SPAST | 4 | Jan 24, 2022 |
SPATA22 | 1 | Jan 24, 2022 |
SPATA6L | 1 | Sep 15, 2015 |
SPECC1L | 10 | Mar 9, 2023 |
SPECC1L-ADORA2A | 10 | Mar 9, 2023 |
SPEG | 5 | Mar 9, 2023 |
SPG11 | 13 | Jan 24, 2022 |
SPG7 | 19 | Mar 9, 2023 |
SPR | 1 | Mar 9, 2023 |
SPRED1 | 1 | Jan 25, 2022 |
SPTAN1 | 77 | Jan 25, 2022 |
SPTBN2 | 12 | Jan 25, 2022 |
SQSTM1 | 1 | Jan 24, 2022 |
SRC | 6 | Jan 25, 2022 |
SRCAP | 14 | Mar 9, 2023 |
SRD5A2 | 11 | Mar 9, 2023 |
SRD5A3 | 4 | Jul 5, 2017 |
SRD5A3-AS1 | 1 | Sep 15, 2015 |
SRP54 | 3 | Jan 25, 2022 |
SRP72 | 49 | Mar 9, 2023 |
SRPX2 | 16 | Jan 25, 2022 |
SRY | 3 | Jan 25, 2022 |
SSUH2 | 2 | Jun 27, 2014 |
ST3GAL3 | 25 | Jan 25, 2022 |
ST3GAL4 | 23 | Mar 6, 2020 |
ST3GAL5 | 4 | Jul 5, 2017 |
STAC3 | 1 | Jan 25, 2022 |
STAMBP | 17 | Jan 25, 2022 |
STAR | 2 | Jan 25, 2022 |
STAT1 | 3 | Jan 25, 2022 |
STAT3 | 6 | Mar 9, 2023 |
STIL | 39 | Jan 25, 2022 |
STK11 | 18 | Mar 9, 2023 |
STON1-GTF2A1L | 8 | Mar 9, 2023 |
STRADA | 3 | Jan 25, 2022 |
STUB1 | 7 | Mar 9, 2023 |
STX16 | 2 | Jan 25, 2022 |
STX16-NPEPL1 | 2 | Jan 25, 2022 |
STXBP1 | 30 | Dec 5, 2022 |
STXBP2 | 14 | Mar 9, 2023 |
SUCLA2 | 1 | Mar 9, 2023 |
SUCLG1 | 1 | Sep 15, 2015 |
SUFU | 6 | Mar 9, 2023 |
SUOX | 2 | Jan 25, 2022 |
SURF1 | 1 | Jul 5, 2017 |
SUZ12 | 1 | Mar 9, 2023 |
SVIL | 1 | Mar 9, 2023 |
SYN1 | 22 | Jan 25, 2022 |
SYNE1 | 117 | Mar 9, 2023 |
SYNE1-AS1 | 1 | Jul 5, 2017 |
SYNE2 | 77 | Jan 25, 2022 |
SYNGAP1 | 46 | Jan 25, 2022 |
SYNGAP1-AS1 | 35 | Jan 25, 2022 |
SYP | 4 | Jan 25, 2022 |
SYP-AS1 | 1 | Sep 15, 2015 |
SYT14 | 2 | Sep 15, 2015 |
SZT2 | 21 | Jan 25, 2022 |
TACR3 | 6 | Mar 9, 2023 |
TACR3-AS1 | 4 | Jan 25, 2022 |
TAF2 | 9 | Jan 25, 2022 |
TBC1D20 | 5 | Jan 25, 2022 |
TBC1D23 | 3 | Jan 25, 2022 |
TBC1D24 | 22 | Jan 25, 2022 |
TBC1D4 | 32 | Jan 25, 2022 |
TBC1D7 | 3 | Jan 25, 2022 |
TBC1D7-LOC100130357 | 3 | Jan 25, 2022 |
TBCD | 1 | Jan 23, 2022 |
TBCE | 4 | Jan 25, 2022 |
TBL1XR1 | 1 | Jan 25, 2022 |
TBP | 5 | Sep 15, 2015 |
TBX1 | 2 | Jan 25, 2022 |
TBX15 | 2 | Mar 9, 2023 |
TCAP | 4 | Oct 4, 2017 |
TCF12 | 3 | Jul 5, 2017 |
TCF20 | 5 | Jan 25, 2022 |
TCF4 | 53 | Jan 25, 2022 |
TCF4-AS1 | 3 | Jan 25, 2022 |
TCOF1 | 21 | Jan 25, 2022 |
TCTN1 | 11 | Mar 9, 2023 |
TCTN2 | 24 | Mar 9, 2023 |
TCTN3 | 10 | Mar 9, 2023 |
TECR | 15 | Mar 6, 2020 |
TELO2 | 3 | Jan 23, 2022 |
TERC | 23 | Mar 9, 2023 |
TERF2IP | 1 | Mar 9, 2023 |
TERT | 152 | Mar 9, 2023 |
TET2 | 29 | Mar 9, 2023 |
TET2-AS1 | 29 | Mar 9, 2023 |
TFG | 3 | Mar 9, 2023 |
TG | 11 | Jan 25, 2022 |
TGFBR1 | 1 | Jan 25, 2022 |
TGFBR2 | 1 | Jul 5, 2017 |
TGM1 | 1 | Jan 25, 2022 |
TGM6 | 6 | Jan 25, 2022 |
TH2LCRR | 1 | Jan 25, 2022 |
THAP1 | 1 | Jan 24, 2022 |
THBD | 4 | Jan 25, 2022 |
THG1L | 1 | Jan 24, 2022 |
THRA | 2 | Jan 25, 2022 |
THRB | 4 | Jan 25, 2022 |
TIA1 | 1 | Mar 9, 2023 |
TIMM50 | 1 | Jan 23, 2022 |
TIMMDC1 | 1 | Jan 23, 2022 |
TINF2 | 26 | Mar 9, 2023 |
TMEM127 | 5 | Jan 25, 2022 |
TMEM138 | 2 | Jul 5, 2017 |
TMEM186 | 6 | Jan 25, 2022 |
TMEM216 | 3 | Jan 24, 2022 |
TMEM231 | 11 | Mar 9, 2023 |
TMEM237 | 4 | Sep 15, 2015 |
TMEM240 | 2 | Jul 5, 2017 |
TMEM43 | 6 | Jan 25, 2022 |
TMEM67 | 24 | Jan 25, 2022 |
TMEM70 | 4 | Jun 27, 2014 |
TMEM94 | 2 | Jan 25, 2022 |
TMPPE | 2 | Jun 27, 2014 |
TMPRSS3 | 1 | Jul 5, 2017 |
TNFRSF13B | 5 | Jan 25, 2022 |
TNFRSF9 | 2 | Jan 25, 2022 |
TNNI2 | 7 | Jul 5, 2017 |
TNNI3 | 2 | Jun 27, 2014 |
TNNT1 | 4 | Jul 5, 2017 |
TNNT3 | 7 | Jul 5, 2017 |
TNXB | 3 | Jan 25, 2022 |
TOE1 | 8 | Jan 25, 2022 |
TP53 | 46 | Mar 9, 2023 |
TP53BP1 | 4 | Dec 5, 2022 |
TPM2 | 3 | Jul 5, 2017 |
TPM3 | 2 | Sep 15, 2015 |
TPO | 4 | Jan 25, 2022 |
TPP1 | 12 | Mar 6, 2020 |
TPRKB | 1 | Jan 23, 2022 |
TRAF3IP1 | 1 | Mar 9, 2023 |
TRAIP | 2 | Jan 25, 2022 |
TRAPPC11 | 1 | Jul 5, 2017 |
TRAPPC9 | 122 | Dec 5, 2022 |
TRIM32 | 5 | Mar 9, 2023 |
TRIM37 | 3 | Jan 25, 2022 |
TRIO | 11 | Jan 25, 2022 |
TRMT10A | 11 | Jan 25, 2022 |
TRNT1 | 3 | Mar 6, 2020 |
TSC1 | 20 | Mar 9, 2023 |
TSC2 | 71 | Mar 9, 2023 |
TSEN2 | 35 | Jan 25, 2022 |
TSEN34 | 12 | Jan 25, 2022 |
TSEN54 | 46 | Dec 5, 2022 |
TSHB | 1 | Dec 5, 2022 |
TSHR | 4 | Jan 25, 2022 |
TSHR-AS1 | 4 | Jan 25, 2022 |
TSPAN1 | 16 | Jan 25, 2022 |
TSPAN31 | 3 | Jan 25, 2022 |
TSPAN7 | 8 | Jan 25, 2022 |
TSPYL1 | 2 | Mar 9, 2023 |
TSTD3 | 12 | Mar 9, 2023 |
TTBK2 | 3 | Jan 24, 2022 |
TTC19 | 3 | Jan 24, 2022 |
TTC21B | 26 | Mar 9, 2023 |
TTC21B-AS1 | 4 | Oct 4, 2017 |
TTC36-AS1 | 1 | Sep 15, 2015 |
TTC8 | 7 | Jan 25, 2022 |
TTI2 | 15 | Jan 25, 2022 |
TTN | 455 | Mar 9, 2023 |
TTN-AS1 | 234 | Mar 9, 2023 |
TTPA | 2 | Mar 9, 2023 |
TTR | 4 | Jan 25, 2022 |
TUBA1A | 52 | Jan 25, 2022 |
TUBA8 | 11 | Oct 4, 2017 |
TUBB | 2 | Jan 25, 2022 |
TUBB1 | 11 | Mar 9, 2023 |
TUBB2A | 6 | Jan 25, 2022 |
TUBB2B | 21 | Jan 25, 2022 |
TUBB3 | 28 | Jan 25, 2022 |
TUBB4A | 3 | Jan 25, 2022 |
TUBG1 | 7 | Jan 25, 2022 |
TUBGCP2 | 2 | Mar 9, 2023 |
TUBGCP4 | 17 | Dec 5, 2022 |
TUBGCP6 | 57 | Mar 9, 2023 |
TUSC3 | 12 | Jan 25, 2022 |
TWIST1 | 2 | Jan 25, 2022 |
TYMP | 3 | Jul 5, 2017 |
TYR | 47 | Jan 25, 2022 |
TYRP1 | 17 | Jan 25, 2022 |
UACA | 1 | Jul 5, 2017 |
UBA5 | 1 | Jan 24, 2022 |
UBE2A | 1 | Jul 5, 2017 |
UBE2T | 3 | Jan 25, 2022 |
UBE3A | 79 | Mar 9, 2023 |
UBR1 | 8 | Jan 25, 2022 |
UCP2 | 21 | Mar 9, 2023 |
UCP3 | 10 | Mar 9, 2023 |
UGT1A | 36 | Jan 25, 2022 |
UGT1A1 | 36 | Jan 25, 2022 |
UGT1A10 | 36 | Jan 25, 2022 |
UGT1A3 | 36 | Jan 25, 2022 |
UGT1A4 | 36 | Jan 25, 2022 |
UGT1A5 | 36 | Jan 25, 2022 |
UGT1A6 | 36 | Jan 25, 2022 |
UGT1A7 | 36 | Jan 25, 2022 |
UGT1A8 | 36 | Jan 25, 2022 |
UGT1A9 | 36 | Jan 25, 2022 |
UIMC1 | 1 | Jul 5, 2017 |
UMOD | 3 | Mar 9, 2023 |
UNC13D | 26 | Mar 9, 2023 |
UPF3B | 6 | Jul 5, 2017 |
UROC1 | 3 | Sep 15, 2015 |
USB1 | 14 | Mar 9, 2023 |
USH1G | 1 | Jan 24, 2022 |
USP45 | 12 | Mar 9, 2023 |
USP9X | 2 | Jan 25, 2022 |
UTP23 | 1 | Sep 11, 2014 |
VARS1 | 2 | Jan 23, 2022 |
VCP | 3 | Jan 25, 2022 |
VDR | 3 | Jan 25, 2022 |
VHL | 15 | Jan 25, 2022 |
VLDLR | 57 | Jan 25, 2022 |
VLDLR-AS1 | 8 | Jan 25, 2022 |
VPS13B | 146 | Mar 9, 2023 |
VPS13D | 2 | Jan 25, 2022 |
VPS33B | 1 | Jul 5, 2017 |
VPS45 | 22 | Mar 9, 2023 |
VPS53 | 3 | Jan 25, 2022 |
VRK1 | 6 | Jul 5, 2017 |
VRK2 | 11 | Mar 9, 2023 |
VWF | 30 | Mar 9, 2023 |
WARS2 | 2 | Jan 24, 2022 |
WAS | 22 | Mar 9, 2023 |
WASHC4 | 21 | Jan 25, 2022 |
WASHC5 | 4 | Jan 23, 2022 |
WDPCP | 7 | Mar 9, 2023 |
WDR11 | 2 | Jan 25, 2022 |
WDR19 | 8 | Mar 9, 2023 |
WDR26 | 1 | Jan 23, 2022 |
WDR35 | 7 | Jul 5, 2017 |
WDR45 | 10 | Jan 25, 2022 |
WDR62 | 133 | Jan 25, 2022 |
WDR81 | 16 | Jan 25, 2022 |
WFS1 | 54 | Mar 9, 2023 |
WNK4 | 1 | Mar 9, 2023 |
WNT4 | 1 | Jan 25, 2022 |
WNT5A | 7 | Oct 4, 2017 |
WRAP53 | 30 | Mar 9, 2023 |
WRN | 30 | Mar 9, 2023 |
WT1 | 12 | Jan 25, 2022 |
WWOX | 24 | Mar 9, 2023 |
XDH | 1 | Mar 9, 2023 |
XPNPEP3 | 1 | Mar 9, 2023 |
XRCC2 | 9 | Mar 9, 2023 |
XRCC3 | 3 | Jan 25, 2022 |
ZBTB20 | 5 | Jan 25, 2022 |
ZBTB20-AS1 | 1 | Jan 25, 2022 |
ZC3H14 | 25 | Jan 25, 2022 |
ZDHHC15 | 9 | Jan 25, 2022 |
ZDHHC24 | 16 | Jan 25, 2022 |
ZDHHC9 | 2 | Jan 25, 2022 |
ZEB1 | 1 | Jul 5, 2017 |
ZEB2 | 66 | Jan 25, 2022 |
ZFP57 | 16 | Mar 9, 2023 |
ZFPM2 | 12 | Jan 25, 2022 |
ZFPM2-AS1 | 11 | Jan 25, 2022 |
ZFYVE26 | 11 | Jan 24, 2022 |
ZFYVE27 | 4 | Sep 15, 2015 |
ZIC2 | 3 | Jan 25, 2022 |
ZIC4 | 1 | Jun 27, 2014 |
ZMPSTE24 | 4 | Jan 25, 2022 |
ZMYND11 | 5 | Jan 25, 2022 |
ZNF276 | 19 | Mar 9, 2023 |
ZNF335 | 58 | Jan 25, 2022 |
ZNF407 | 82 | Jan 25, 2022 |
ZNF41 | 2 | Jun 27, 2014 |
ZNF423 | 3 | Mar 9, 2023 |
ZNF431 | 3 | Jan 25, 2022 |
ZNF469 | 5 | Jan 23, 2022 |
ZNF526 | 25 | Jan 25, 2022 |
ZNF592 | 3 | Sep 15, 2015 |
ZNF674 | 6 | Jun 27, 2014 |
ZNF711 | 10 | Jan 25, 2022 |
ZNF81 | 18 | Jan 25, 2022 |
ZRANB3 | 6 | Mar 6, 2020 |
ZSWIM6 | 2 | Jan 25, 2022 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
3-M syndrome | 1 test |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 test |
3-methylglutaconic aciduria type 1 | 2 tests |
3-methylglutaconic aciduria, type VIIB | 1 test |
46,XX sex reversal 1 | 1 test |
46,XX sex reversal 4 | 1 test |
46,XY disorder of sex development | 2 tests |
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis | 1 test |
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 1 test |
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 1 test |
46,XY sex reversal 1 | 2 tests |
46,XY sex reversal 2 | 1 test |
46,XY sex reversal 6 | 2 tests |
46,XY sex reversal 7 | 2 tests |
46,XY sex reversal 9 | 2 tests |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 tests |
ADan amyloidosis | 1 test |
Abdominal obesity-metabolic syndrome 3 | 2 tests |
Acampomelic campomelic dysplasia with autosomal sex reversal | 1 test |
Acquired hemoglobin H disease | 1 test |
Acquired partial lipodystrophy | 3 tests |
Acrocallosal syndrome | 1 test |
Acrodysostosis 1 with or without hormone resistance | 2 tests |
Acrodysostosis 2 with or without hormone resistance | 2 tests |
Acromelic frontonasal dysostosis | 1 test |
Actin accumulation myopathy | 3 tests |
Action myoclonus-renal failure syndrome | 1 test |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
Acute myeloid leukemia | 5 tests |
Adenylosuccinate lyase deficiency | 2 tests |
Adrenal hypoplasia, congenital, with precocious puberty | 1 test |
Adrenoleukodystrophy | 2 tests |
Agenesis of the corpus callosum with peripheral neuropathy | 1 test |
Aicardi Goutieres syndrome | 1 test |
Aicardi-Goutieres syndrome 7 | 1 test |
Alagille syndrome due to a JAG1 point mutation | 1 test |
Alagille syndrome due to a NOTCH2 point mutation | 1 test |
Albinism | 1 test |
Albright hereditary osteodystrophy | 1 test |
Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 test |
Alexander disease | 1 test |
Allan-Herndon-Dudley syndrome | 4 tests |
Alpha mannosidosis type II | 1 test |
Alpha thalassemia-X-linked intellectual disability syndrome | 4 tests |
Alpha-methylacyl-CoA racemase deficiency | 1 test |
Alpha-thalassemia/intellectual disability syndrome | 1 test |
Alstrom syndrome | 1 test |
Alternating hemiplegia of childhood | 2 tests |
Alzheimer disease 3 | 1 test |
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia | 1 test |
Amelocerebrohypohidrotic syndrome | 1 test |
Aminoacylase 1 deficiency | 1 test |
Amish lethal microcephaly | 1 test |
Amyotrophic lateral sclerosis type 1 | 1 test |
Androgen resistance syndrome | 2 tests |
Angelman syndrome | 7 tests |
Aniridia 1 | 2 tests |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 1 test |
Aplastic anemia | 1 test |
Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus | 1 test |
Argininosuccinate lyase deficiency | 1 test |
Aromatase deficiency | 2 tests |
Aromatase excess syndrome | 1 test |
Arthrogryposis, distal, type 1A | 1 test |
Arthrogryposis, distal, type 1B | 1 test |
Arthrogryposis, distal, with impaired proprioception and touch | 1 test |
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome | 1 test |
Asphyxiating thoracic dystrophy 3 | 2 tests |
Asphyxiating thoracic dystrophy 5 | 1 test |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 test |
Ataxia - oculomotor apraxia type 4 | 2 tests |
Ataxia with oculomotor apraxia type 3 | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
Ataxia-pancytopenia syndrome | 5 tests |
Ataxia-telangiectasia syndrome | 2 tests |
Ataxia-telangiectasia-like disorder | 1 test |
Atypical hemolytic-uremic syndrome | 1 test |
Autoimmune disease | 1 test |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 test |
Autoimmune lymphoproliferative syndrome type 2A | 1 test |
Autoimmune lymphoproliferative syndrome, type 1a | 1 test |
Autoimmune lymphoproliferative syndrome, type 1b | 1 test |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia | 1 test |
Autosomal dominant Kenny-Caffey syndrome | 1 test |
Autosomal dominant Opitz G/BBB syndrome | 1 test |
Autosomal dominant aplasia and myelodysplasia | 1 test |
Autosomal dominant centronuclear myopathy | 3 tests |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 test |
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 2 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1G | 2 tests |
Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
Autosomal dominant polycystic kidney disease | 2 tests |
Autosomal dominant polycystic liver disease | 1 test |
Autosomal recessive DOPA responsive dystonia | 2 tests |
Autosomal recessive Dejerine-Sottas syndrome | 1 test |
Autosomal recessive Kenny-Caffey syndrome | 1 test |
Autosomal recessive Robinow syndrome | 3 tests |
Autosomal recessive ataxia due to ubiquinone deficiency | 1 test |
Autosomal recessive ataxia, Beauce type | 1 test |
Autosomal recessive infantile hypercalcemia | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2P | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type R18 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
Autosomal recessive polycystic kidney disease | 2 tests |
Autosomal recessive primary microcephaly | 1 test |
Autosomal recessive spastic paraplegia type 76 | 1 test |
Autosomal recessive spastic paraplegia type 78 | 1 test |
Autosomal recessive spinocerebellar ataxia 10 | 1 test |
Autosomal recessive spinocerebellar ataxia 11 | 1 test |
Autosomal recessive spinocerebellar ataxia 12 | 1 test |
Autosomal recessive spinocerebellar ataxia 13 | 1 test |
Autosomal recessive spinocerebellar ataxia 15 | 1 test |
Autosomal recessive spinocerebellar ataxia 16 | 1 test |
Autosomal recessive spinocerebellar ataxia 17 | 1 test |
Autosomal recessive spinocerebellar ataxia 18 | 1 test |
Autosomal recessive spinocerebellar ataxia 2 | 1 test |
Autosomal recessive spinocerebellar ataxia 20 | 1 test |
Azorean disease | 1 test |
Bailey-Bloch congenital myopathy | 2 tests |
Baller-Gerold syndrome | 1 test |
Bamforth-Lazarus syndrome | 1 test |
Band heterotopia of brain | 1 test |
Baraitser-winter syndrome 2 | 1 test |
Bardet-Biedl syndrome | 4 tests |
Bardet-Biedl syndrome 11 | 2 tests |
Bardet-Biedl syndrome 13 | 1 test |
Bardet-Biedl syndrome 6 | 1 test |
Bartsocas-Papas syndrome 1 | 1 test |
Basal ganglia calcification, idiopathic, 6 | 1 test |
Beckwith-Wiedemann syndrome | 2 tests |
Benign hereditary chorea | 1 test |
Bernard Soulier syndrome | 1 test |
Beta-thalassemia-X-linked thrombocytopenia syndrome | 2 tests |
Bethlem myopathy 1A | 2 tests |
Bethlem myopathy 2 | 2 tests |
Bilateral frontoparietal polymicrogyria | 2 tests |
Biotin-responsive basal ganglia disease | 2 tests |
Biotinidase deficiency | 1 test |
Bloom syndrome | 2 tests |
Bone marrow failure syndrome 3 | 2 tests |
Bone marrow failure syndrome 5 | 1 test |
Borjeson-Forssman-Lehmann syndrome | 2 tests |
Brain small vessel disease 1 with or without ocular anomalies | 1 test |
Brain-lung-thyroid syndrome | 1 test |
Branchiootorenal Spectrum Disorders | 1 test |
Breast and/or ovarian cancer | 3 tests |
Breast cancer, susceptibility to | 3 tests |
Breast neoplasm | 5 tests |
Breast-ovarian cancer, familial, susceptibility to, 2 | 1 test |
Breast-ovarian cancer, familial, susceptibility to, 4 | 1 test |
C syndrome | 1 test |
C3 deficiency | 1 test |
CADDS | 1 test |
CARASIL syndrome | 1 test |
CEDNIK syndrome | 1 test |
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | 1 test |
CHARGE syndrome | 4 tests |
CHIME syndrome | 1 test |
Campomelic dysplasia with autosomal sex reversal | 1 test |
Carcinoma of colon | 1 test |
Carcinoma of pancreas | 1 test |
Cardiac valvular dysplasia, X-linked | 1 test |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 test |
Carney complex | 1 test |
Carney-Stratakis syndrome | 1 test |
Carpenter syndrome | 1 test |
Cayman type cerebellar ataxia | 1 test |
Central core myopathy | 3 tests |
Central hypothyroidism | 1 test |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 1 test |
Cerebellar ataxia and hypergonadotropic hypogonadism | 1 test |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 2 tests |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 1 test |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 test |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 test |
Cerebellar ataxia-hypogonadism syndrome | 1 test |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 test |
Cerebral creatine deficiency syndrome | 2 tests |
Cerebral folate transport deficiency | 2 tests |
Cernunnos-XLF deficiency | 1 test |
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
Ceroid lipofuscinosis, neuronal, 6A | 1 test |
Charcot-Marie-Tooth disease | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 1 test |
Charlevoix-Saguenay spastic ataxia | 2 tests |
Child syndrome | 1 test |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2 tests |
Childhood onset GLUT1 deficiency syndrome 2 | 2 tests |
Cholestanol storage disease | 2 tests |
Chorea-acanthocytosis | 1 test |
Christianson syndrome | 3 tests |
Chronic mucocutaneous candidiasis | 1 test |
Chédiak-Higashi syndrome | 1 test |
Citrullinemia type I | 1 test |
Classic Hodgkin lymphoma | 1 test |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 test |
Cleidocranial dysostosis | 1 test |
Coats plus syndrome | 2 tests |
Cobblestone lissencephaly without muscular or ocular involvement | 1 test |
Cockayne syndrome | 1 test |
Coenzyme Q10 deficiency | 1 test |
Coenzyme Q10 deficiency, primary, 1 | 1 test |
Coffin-Siris syndrome | 1 test |
Coffin-Siris syndrome 1 | 2 tests |
Coffin-Siris syndrome 5 | 1 test |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 tests |
Cognitive impairment with or without cerebellar ataxia | 1 test |
Cohen syndrome | 1 test |
Cohen-Gibson syndrome | 1 test |
Cole-Carpenter syndrome 2 | 1 test |
Collagen IV-related nephropathies | 1 test |
Colorectal cancer | 4 tests |
Colorectal cancer, hereditary nonpolyposis, type 6 | 1 test |
Colorectal cancer, susceptibility to, 12 | 1 test |
Combined immunodeficiency | 1 test |
Combined immunodeficiency due to LRBA deficiency | 2 tests |
Combined oxidative phosphorylation defect type 14 | 1 test |
Combined oxidative phosphorylation deficiency | 1 test |
Combined pituitary hormone deficiencies, genetic form | 1 test |
Common variable immunodeficiency | 1 test |
Complex cortical dysplasia with other brain malformations | 1 test |
Complex cortical dysplasia with other brain malformations 1 | 1 test |
Complex cortical dysplasia with other brain malformations 2 | 1 test |
Complex cortical dysplasia with other brain malformations 4 | 1 test |
Complex cortical dysplasia with other brain malformations 6 | 2 tests |
Compton-North congenital myopathy | 3 tests |
Congenital adrenal hyperplasia | 2 tests |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 test |
Congenital adrenal hypoplasia, X-linked | 1 test |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 2 tests |
Congenital amegakaryocytic thrombocytopenia | 3 tests |
Congenital bile acid synthesis defect 3 | 1 test |
Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 test |
Congenital cerebellar hypoplasia | 1 test |
Congenital contractural arachnodactyly | 1 test |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 2 tests |
Congenital defect of folate absorption | 1 test |
Congenital disorder of glycosylation | 5 tests |
Congenital disorder of glycosylation type 1E | 2 tests |
Congenital dyserythropoietic anemia, type II | 1 test |
Congenital generalized lipodystrophy type 1 | 3 tests |
Congenital generalized lipodystrophy type 2 | 4 tests |
Congenital generalized lipodystrophy type 3 | 4 tests |
Congenital generalized lipodystrophy type 4 | 2 tests |
Congenital hyperammonemia, type I | 1 test |
Congenital hypoplastic anemia | 3 tests |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 test |
Congenital multicore myopathy with external ophthalmoplegia | 3 tests |
Congenital muscular dystrophy due to LMNA mutation | 2 tests |
Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2 tests |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2 tests |
Congenital myasthenic syndrome | 3 tests |
Congenital myasthenic syndrome 10 | 2 tests |
Congenital myasthenic syndrome 12 | 3 tests |
Congenital myasthenic syndrome 13 | 3 tests |
Congenital myasthenic syndrome 14 | 3 tests |
Congenital myasthenic syndrome 15 | 1 test |
Congenital myasthenic syndrome 16 | 3 tests |
Congenital myasthenic syndrome 18 | 1 test |
Congenital myasthenic syndrome 19 | 2 tests |
Congenital myasthenic syndrome 4A | 2 tests |
Congenital myasthenic syndrome 4C | 3 tests |
Congenital myasthenic syndrome 5 | 3 tests |
Congenital myasthenic syndrome 7 | 2 tests |
Congenital myasthenic syndrome 8 | 2 tests |
Congenital myopathy | 3 tests |
Congenital myopathy 23 | 3 tests |
Congenital myopathy 4B, autosomal recessive | 1 test |
Congenital myopathy with fiber type disproportion | 2 tests |
Congenital myopathy with internal nuclei and atypical cores | 3 tests |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 test |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 test |
Cortical dysplasia-focal epilepsy syndrome | 1 test |
Cowden syndrome | 5 tests |
Cranioectodermal dysplasia | 1 test |
Cranioectodermal dysplasia 4 | 1 test |
Craniofrontonasal syndrome | 3 tests |
Craniosynostosis 6 | 2 tests |
Craniosynostosis and dental anomalies | 1 test |
Craniosynostosis syndrome | 1 test |
Crigler-Najjar syndrome | 1 test |
Cryptophthalmos syndrome | 1 test |
Currarino triad | 1 test |
Curry-Hall syndrome | 1 test |
Cutis laxa | 1 test |
Cyclical neutropenia | 1 test |
Cystic leukoencephalopathy without megalencephaly | 1 test |
Cytochrome c oxidase I deficiency | 1 test |
D-2-hydroxyglutaric aciduria | 1 test |
D-2-hydroxyglutaric aciduria 2 | 1 test |
DDX41-related hematologic malignancy predisposition syndrome | 1 test |
DICER1-related tumor predisposition | 1 test |
DNA ligase IV deficiency | 3 tests |
DOORS syndrome | 2 tests |
DPM3-congenital disorder of glycosylation | 2 tests |
DYRK1A-related intellectual disability syndrome | 4 tests |
Dandy-Walker syndrome | 1 test |
Danon disease | 2 tests |
De Lange syndrome | 2 tests |
Deafness dystonia syndrome | 1 test |
Deficiency of aromatic-L-amino-acid decarboxylase | 1 test |
Deficiency of ferroxidase | 1 test |
Deficiency of steroid 11-beta-monooxygenase | 1 test |
Deficiency of steroid 17-alpha-monooxygenase | 2 tests |
Dentatorubral-pallidoluysian atrophy | 1 test |
Desmin-related myofibrillar myopathy | 2 tests |
Desmosterolosis | 1 test |
Developmental and epileptic encephalopathy 94 | 3 tests |
Developmental and epileptic encephalopathy, 1 | 1 test |
Developmental and epileptic encephalopathy, 11 | 2 tests |
Developmental and epileptic encephalopathy, 12 | 2 tests |
Developmental and epileptic encephalopathy, 13 | 2 tests |
Developmental and epileptic encephalopathy, 14 | 2 tests |
Developmental and epileptic encephalopathy, 15 | 2 tests |
Developmental and epileptic encephalopathy, 16 | 3 tests |
Developmental and epileptic encephalopathy, 17 | 1 test |
Developmental and epileptic encephalopathy, 18 | 2 tests |
Developmental and epileptic encephalopathy, 19 | 2 tests |
Developmental and epileptic encephalopathy, 2 | 3 tests |
Developmental and epileptic encephalopathy, 21 | 2 tests |
Developmental and epileptic encephalopathy, 24 | 2 tests |
Developmental and epileptic encephalopathy, 25 | 2 tests |
Developmental and epileptic encephalopathy, 26 | 2 tests |
Developmental and epileptic encephalopathy, 27 | 2 tests |
Developmental and epileptic encephalopathy, 28 | 3 tests |
Developmental and epileptic encephalopathy, 29 | 1 test |
Developmental and epileptic encephalopathy, 31A | 2 tests |
Developmental and epileptic encephalopathy, 32 | 2 tests |
Developmental and epileptic encephalopathy, 4 | 2 tests |
Developmental and epileptic encephalopathy, 44 | 1 test |
Developmental and epileptic encephalopathy, 5 | 2 tests |
Developmental and epileptic encephalopathy, 51 | 1 test |
Developmental and epileptic encephalopathy, 7 | 2 tests |
Developmental and epileptic encephalopathy, 8 | 2 tests |
Developmental and epileptic encephalopathy, 9 | 3 tests |
Developmental delay with autism spectrum disorder and gait instability | 2 tests |
Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 test |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 test |
DiGeorge syndrome | 1 test |
Diabetes mellitus | 2 tests |
Diabetes mellitus, transient neonatal, 1 | 1 test |
Diamond-Blackfan anemia 1 | 1 test |
Diamond-Blackfan anemia 10 | 1 test |
Diamond-Blackfan anemia 11 | 2 tests |
Diamond-Blackfan anemia 12 | 2 tests |
Diamond-Blackfan anemia 3 | 1 test |
Diamond-Blackfan anemia 5 | 1 test |
Diamond-Blackfan anemia 6 | 1 test |
Diamond-Blackfan anemia 7 | 1 test |
Diamond-Blackfan anemia 8 | 2 tests |
Diamond-Blackfan anemia 9 | 1 test |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 test |
Dihydropteridine reductase deficiency | 1 test |
Dilated cardiomyopathy 1A | 2 tests |
Dilated cardiomyopathy 1G | 1 test |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 test |
Distal arthrogryposis | 1 test |
Distal arthrogryposis type 2B1 | 1 test |
Distal arthrogryposis type 5D | 1 test |
Donnai-Barrow syndrome | 1 test |
Dopa-responsive dystonia | 1 test |
Down syndrome | 2 tests |
Drash syndrome | 3 tests |
Dyskeratosis congenita | 5 tests |
Dyskeratosis congenita, autosomal dominant 6 | 3 tests |
Dyskeratosis congenita, autosomal recessive 1 | 1 test |
Dyskeratosis congenita, autosomal recessive 5 | 2 tests |
Dyskinesia with orofacial involvement, autosomal dominant | 1 test |
Dyssynergia | 1 test |
Dystonia 16 | 1 test |
Dystonia 24 | 1 test |
Dystonia 25 | 1 test |
Dystonia 28, childhood-onset | 1 test |
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 tests |
Dystonic disorder | 3 tests |
EAST syndrome | 1 test |
Early infantile epileptic encephalopathy with suppression bursts | 4 tests |
Early myoclonic encephalopathy | 2 tests |
Early-onset Lafora body disease | 1 test |
Early-onset myopathy with fatal cardiomyopathy | 1 test |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 test |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 test |
Ehlers-Danlos syndrome | 3 tests |
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2 tests |
Ehlers-Danlos syndrome, musculocontractural type | 3 tests |
Eichsfeld type congenital muscular dystrophy | 2 tests |
Emery-Dreifuss muscular dystrophy | 2 tests |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 tests |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2 tests |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 tests |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
Encephalopathy due to GLUT1 deficiency | 3 tests |
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 test |
Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 test |
Endocrine-cerebro-osteodysplasia syndrome | 1 test |
Epilepsy | 2 tests |
Epilepsy, childhood absence, susceptibility to, 5 | 2 tests |
Ethylmalonic encephalopathy | 3 tests |
Exercise-induced hyperinsulinism | 1 test |
Exudative vitreoretinopathy 7 | 1 test |
FG syndrome 1 | 3 tests |
FG syndrome 2 | 1 test |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 1 test |
Familial adenomatous polyposis 1 | 2 tests |
Familial adenomatous polyposis 2 | 3 tests |
Familial aplasia of the vermis | 5 tests |
Familial cancer of breast | 5 tests |
Familial hemiplegic migraine | 1 test |
Familial hemophagocytic lymphohistiocytosis | 1 test |
Familial hemophagocytic lymphohistiocytosis 5 | 1 test |
Familial hyperinsulinism | 2 tests |
Familial hypocalciuric hypercalcemia 1 | 1 test |
Familial hypocalciuric hypercalcemia 2 | 1 test |
Familial hypoparathyroidism | 1 test |
Familial infantile myasthenia | 1 test |
Familial infantile myoclonic epilepsy | 3 tests |
Familial isolated deficiency of vitamin E | 1 test |
Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
Familial melanoma | 2 tests |
Familial multiple polyposis syndrome | 3 tests |
Familial partial lipodystrophy | 3 tests |
Familial partial lipodystrophy, Dunnigan type | 3 tests |
Familial partial lipodystrophy, Kobberling type | 3 tests |
Familial thoracic aortic aneurysm and aortic dissection | 1 test |
Fanconi anemia | 3 tests |
Fanconi anemia complementation group A | 1 test |
Fanconi anemia complementation group B | 1 test |
Fanconi anemia complementation group C | 1 test |
Fanconi anemia complementation group D1 | 1 test |
Fanconi anemia complementation group D2 | 1 test |
Fanconi anemia complementation group E | 1 test |
Fanconi anemia complementation group F | 1 test |
Fanconi anemia complementation group G | 1 test |
Fanconi anemia complementation group I | 1 test |
Fanconi anemia complementation group J | 2 tests |
Fanconi anemia complementation group L | 1 test |
Fanconi anemia complementation group N | 4 tests |
Fanconi anemia complementation group O | 3 tests |
Fanconi anemia complementation group P | 1 test |
Fanconi anemia complementation group Q | 1 test |
Fanconi anemia complementation group R | 2 tests |
Fanconi anemia complementation group T | 2 tests |
Fanconi anemia complementation group U | 1 test |
Fanconi anemia, complementation group S | 1 test |
Feingold syndrome | 1 test |
Floating-Harbor syndrome | 1 test |
Focal segmental glomerulosclerosis | 1 test |
Fragile X-associated tremor/ataxia syndrome | 2 tests |
Freeman-Sheldon syndrome | 1 test |
Friedreich ataxia | 2 tests |
Friedreich ataxia 1 | 1 test |
Friedreich ataxia 2 | 1 test |
Frontometaphyseal dysplasia | 1 test |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 test |
Frontonasal dysplasia with alopecia and genital anomaly | 1 test |
Frontorhiny | 2 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 2 tests |
Fucosidosis | 1 test |
Fumarase deficiency | 1 test |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 3 tests |
GM1 gangliosidosis | 1 test |
GM1 gangliosidosis type 3 | 1 test |
GM2-gangliosidosis, B, B1, AB variant | 1 test |
GM3 synthase deficiency | 2 tests |
GNE myopathy | 2 tests |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
Galactosialidosis, adult | 1 test |
Galactosylceramide beta-galactosidase deficiency | 1 test |
Galloway-Mowat syndrome 1 | 1 test |
Gamma-glutamylcysteine synthetase deficiency | 1 test |
Gastrointestinal stroma tumor | 1 test |
Gaucher disease due to saposin C deficiency | 1 test |
Generalized epilepsy with febrile seizures plus, type 2 | 3 tests |
Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 test |
Generalized juvenile polyposis/juvenile polyposis coli | 3 tests |
Generalized myoclonic-atonic seizure | 1 test |
Giant axonal neuropathy 1 | 1 test |
Gilbert syndrome | 1 test |
Glanzmann thrombasthenia | 1 test |
Glucocorticoid deficiency with achalasia | 1 test |
Glutaric aciduria, type 1 | 1 test |
Glutathione synthetase deficiency without 5-oxoprolinuria | 1 test |
Glycogen storage disease | 2 tests |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
Glycogen storage disease, type II | 2 tests |
Glycogen storage disease, type IV | 1 test |
Glycogen storage disease, type V | 2 tests |
Goldberg-Shprintzen syndrome | 2 tests |
Gray platelet syndrome | 1 test |
Greig cephalopolysyndactyly syndrome | 2 tests |
Griscelli syndrome type 1 | 1 test |
Griscelli syndrome type 2 | 1 test |
Griscelli syndrome type 3 | 1 test |
Hand-foot-genital syndrome | 1 test |
Hecht syndrome | 1 test |
Hemolytic anemia | 1 test |
Hemolytic anemia due to glucophosphate isomerase deficiency | 1 test |
Hemolytic-uremic syndrome | 1 test |
Hereditary acrodermatitis enteropathica | 1 test |
Hereditary amyloidosis | 1 test |
Hereditary breast ovarian cancer syndrome | 9 tests |
Hereditary diffuse gastric adenocarcinoma | 3 tests |
Hereditary diffuse leukoencephalopathy with spheroids | 1 test |
Hereditary episodic ataxia | 1 test |
Hereditary hemorrhagic telangiectasia | 1 test |
Hereditary hyperferritinemia with congenital cataracts | 1 test |
Hereditary nonpolyposis colon cancer | 7 tests |
Hereditary pheochromocytoma-paraganglioma | 2 tests |
Hereditary sideroblastic anemia | 2 tests |
Hereditary spastic paraplegia | 1 test |
Hereditary spastic paraplegia 17 | 1 test |
Hereditary spastic paraplegia 26 | 1 test |
Hereditary spastic paraplegia 35 | 1 test |
Hereditary spastic paraplegia 56 | 1 test |
Hereditary spastic paraplegia 57 | 1 test |
Hereditary spastic paraplegia 62 | 1 test |
Hereditary spastic paraplegia 75 | 1 test |
Hereditary spastic paraplegia 77 | 1 test |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 test |
Hermansky-Pudlak syndrome | 1 test |
Heterotopia, periventricular, X-linked dominant | 1 test |
Hogue-Janssens syndrome 1 | 1 test |
Holocarboxylase synthetase deficiency | 1 test |
Holoprosencephaly sequence | 1 test |
Homocystinuria | 1 test |
Hoyeraal-Hreidarsson syndrome | 1 test |
Hydrocephalus | 1 test |
Hydrolethalus syndrome 2 | 1 test |
Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 1 test |
Hyperinsulinemic hypoglycemia, familial, 1 | 1 test |
Hyperinsulinemic hypoglycemia, familial, 2 | 1 test |
Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
Hyperinsulinism due to INSR deficiency | 1 test |
Hyperinsulinism due to glucokinase deficiency | 2 tests |
Hyperinsulinism-hyperammonemia syndrome | 1 test |
Hypermanganesemia with dystonia 2 | 1 test |
Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 test |
Hyperparathyroidism | 1 test |
Hyperphenylalaninemia due to DNAJC12 deficiency | 1 test |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency | 2 tests |
Hypertensive disorder | 1 test |
Hypertrichosis cubiti-short stature syndrome | 1 test |
Hypertrophic cardiomyopathy | 2 tests |
Hypertrophic cardiomyopathy 9 | 1 test |
Hypobetalipoproteinemia | 1 test |
Hypocalcemia | 1 test |
Hypocalcemia, autosomal dominant, with Bartter syndrome | 1 test |
Hypoceruloplasminemia | 2 tests |
Hypogonadotropic hypogonadism 1 with or without anosmia | 2 tests |
Hypogonadotropic hypogonadism 10 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 11 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 12 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 14 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 16 with or without anosmia | 2 tests |
Hypogonadotropic hypogonadism 18 with or without anosmia | 2 tests |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 20 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 22 with or without anosmia | 2 tests |
Hypogonadotropic hypogonadism 7 with or without anosmia | 2 tests |
Hypogonadotropic hypogonadism 8 with or without anosmia | 2 tests |
Hypogonadotropic hypogonadism 9 with or without anosmia | 2 tests |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | 3 tests |
Hypoparathyroidism | 1 test |
Hypoparathyroidism-retardation-dysmorphism syndrome | 1 test |
Hypophosphatemic rickets | 2 tests |
Hypospadias 2, X-linked | 1 test |
Hypothyroidism, congenital, nongoitrous, 2 | 1 test |
Hypotonia | 1 test |
Hypotonia, ataxia, and delayed development syndrome | 1 test |
IMAGe syndrome | 2 tests |
Idiopathic basal ganglia calcification 1 | 1 test |
Immunodeficiency 11b with atopic dermatitis | 1 test |
Immunodeficiency 14 | 1 test |
Immunodeficiency 23 | 1 test |
Immunodeficiency, common variable, 2 | 1 test |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 2 tests |
Infantile bilateral striatal necrosis | 2 tests |
Infantile cerebellar-retinal degeneration | 1 test |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 test |
Infantile convulsions and choreoathetosis | 1 test |
Infantile neuroaxonal dystrophy | 2 tests |
Infantile onset spinocerebellar ataxia | 1 test |
Infantile-onset ascending hereditary spastic paralysis | 2 tests |
Inherited bone marrow failure syndrome | 1 test |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
Intellectual developmental disorder with autism and macrocephaly | 1 test |
Intellectual disability | 1 test |
Intellectual disability, CASK-related, X-linked | 2 tests |
Intellectual disability, X-linked, syndromic, 35 | 2 tests |
Intellectual disability, X-linked, syndromic, Bain type | 1 test |
Intellectual disability, X-linked, with or without seizures, arx-related | 1 test |
Intellectual disability, autosomal dominant 1 | 2 tests |
Intellectual disability, autosomal dominant 13 | 2 tests |
Intellectual disability, autosomal dominant 20 | 1 test |
Intellectual disability, autosomal dominant 27 | 1 test |
Intellectual disability, autosomal dominant 40 | 1 test |
Intellectual disability, autosomal dominant 42 | 1 test |
Intellectual disability, autosomal dominant 43 | 1 test |
Intellectual disability, autosomal dominant 5 | 2 tests |
Intellectual disability, autosomal recessive 13 | 2 tests |
Intellectual disability, autosomal recessive 34 | 1 test |
Intellectual disability, autosomal recessive 43 | 2 tests |
Intellectual disability, autosomal recessive 46 | 1 test |
Intellectual disability, autosomal recessive 53 | 1 test |
Intellectual disability, profound | 4 tests |
Interstitial lung disease 2 | 2 tests |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 test |
Irinotecan response | 1 test |
Johanson-Blizzard syndrome | 2 tests |
Joubert syndrome 1 | 1 test |
Joubert syndrome 10 | 2 tests |
Joubert syndrome 13 | 1 test |
Joubert syndrome 14 | 1 test |
Joubert syndrome 15 | 2 tests |
Joubert syndrome 16 | 1 test |
Joubert syndrome 17 | 1 test |
Joubert syndrome 18 | 3 tests |
Joubert syndrome 2 | 1 test |
Joubert syndrome 20 | 1 test |
Joubert syndrome 21 | 2 tests |
Joubert syndrome 22 | 1 test |
Joubert syndrome 23 | 1 test |
Joubert syndrome 3 | 1 test |
Joubert syndrome 5 | 1 test |
Joubert syndrome 6 | 1 test |
Joubert syndrome 7 | 1 test |
Joubert syndrome 8 | 1 test |
Joubert syndrome 9 | 1 test |
Joubert syndrome with renal defect | 1 test |
Juberg-Marsidi syndrome | 1 test |
Juvenile (Subacute) Hexosaminidase A Deficiency | 1 test |
Juvenile myelomonocytic leukemia | 1 test |
Juvenile myoclonic epilepsy | 2 tests |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 2 tests |
KBG syndrome | 2 tests |
Kabuki syndrome | 2 tests |
Kabuki syndrome 1 | 1 test |
Keppen-Lubinsky syndrome | 3 tests |
Kleefstra syndrome 1 | 1 test |
Knobloch syndrome | 1 test |
Kufor-Rakeb syndrome | 3 tests |
L-2-hydroxyglutaric aciduria | 3 tests |
LEOPARD syndrome 1 | 1 test |
LIPE-related familial partial lipodystrophy | 2 tests |
Landau-Kleffner syndrome | 2 tests |
Leigh syndrome | 2 tests |
Lesch-Nyhan syndrome | 1 test |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 2 tests |
Lethal osteosclerotic bone dysplasia | 1 test |
Leukemia, acute lymphoblastic, susceptibility to | 1 test |
Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 test |
Leukodystrophy | 2 tests |
Leukoencephalopathy | 1 test |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 test |
Leukoencephalopathy, progressive, with ovarian failure | 2 tests |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 test |
Leydig cell agenesis | 2 tests |
Leydig cell hypoplasia, type II | 1 test |
Li-Fraumeni syndrome | 8 tests |
Li-Fraumeni syndrome 2 | 1 test |
Li-fraumeni-like syndrome | 1 test |
Lichtenstein-Knorr syndrome | 1 test |
Limb-girdle muscular dystrophy | 3 tests |
Limb-girdle muscular dystrophy due to POMK deficiency | 2 tests |
Linear skin defects with multiple congenital anomalies 1 | 3 tests |
Lipoyl transferase 1 deficiency | 1 test |
Lissencephaly | 2 tests |
Lissencephaly 4 | 2 tests |
Lissencephaly 6 with microcephaly | 2 tests |
Lissencephaly 7 with cerebellar hypoplasia | 1 test |
Lissencephaly 8 | 1 test |
Loeys-Dietz syndrome 2 | 1 test |
Luscan-Lumish syndrome | 1 test |
Lymphoma | 1 test |
Lymphoma, non-Hodgkin, familial | 1 test |
Lymphoproliferative syndrome 1 | 1 test |
Lymphoproliferative syndrome 2 | 1 test |
MEGF10-related myopathy | 2 tests |
MEHMO syndrome | 1 test |
MERRF syndrome | 1 test |
MIRAGE syndrome | 4 tests |
MYH7-related skeletal myopathy | 2 tests |
Macrocephaly | 1 test |
Macrocephaly and epileptic encephalopathy | 1 test |
Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 test |
Macrocephaly, macrosomia, facial dysmorphism syndrome | 1 test |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 test |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 test |
Malan overgrowth syndrome | 1 test |
Malignant hyperthermia of anesthesia | 1 test |
Malignant hyperthermia, susceptibility to, 1 | 2 tests |
Malignant tumor of esophagus | 1 test |
Malignant tumor of thyroid gland | 1 test |
Mandibular hypoplasia-deafness-progeroid syndrome | 3 tests |
Mandibuloacral dysplasia with type B lipodystrophy | 3 tests |
Mandibulofacial dysostosis-microcephaly syndrome | 2 tests |
Maple syrup urine disease | 1 test |
Marinesco-Sjögren syndrome | 3 tests |
Marshall-Smith syndrome | 1 test |
Mast syndrome | 2 tests |
Maturity onset diabetes mellitus in young | 2 tests |
Maturity-onset diabetes of the young type 1 | 1 test |
Maturity-onset diabetes of the young type 10 | 1 test |
Maturity-onset diabetes of the young type 11 | 1 test |
Maturity-onset diabetes of the young type 2 | 2 tests |
Maturity-onset diabetes of the young type 3 | 1 test |
Maturity-onset diabetes of the young type 4 | 1 test |
Maturity-onset diabetes of the young type 6 | 1 test |
Maturity-onset diabetes of the young type 7 | 1 test |
Maturity-onset diabetes of the young type 8 | 1 test |
Maturity-onset diabetes of the young type 9 | 1 test |
McKusick-Kaufman syndrome | 1 test |
McLeod neuroacanthocytosis syndrome | 1 test |
Meckel syndrome, type 1 | 2 tests |
Meckel syndrome, type 10 | 2 tests |
Meckel syndrome, type 11 | 1 test |
Meckel syndrome, type 2 | 1 test |
Meckel syndrome, type 3 | 1 test |
Meckel syndrome, type 4 | 2 tests |
Meckel syndrome, type 5 | 2 tests |
Meckel syndrome, type 6 | 2 tests |
Meckel syndrome, type 8 | 2 tests |
Meckel syndrome, type 9 | 2 tests |
Meckel-Gruber syndrome | 4 tests |
Megaconial type congenital muscular dystrophy | 3 tests |
Megalencephalic leukoencephalopathy with subcortical cysts | 3 tests |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 test |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
Meier-Gorlin syndrome | 2 tests |
Meier-Gorlin syndrome 2 | 1 test |
Meier-Gorlin syndrome 3 | 1 test |
Meier-Gorlin syndrome 4 | 1 test |
Meier-Gorlin syndrome 5 | 1 test |
Meier-Gorlin syndrome 7 | 1 test |
Melanoma | 2 tests |
Melnick-Needles syndrome | 1 test |
Menkes kinky-hair syndrome | 1 test |
Merosin deficient congenital muscular dystrophy | 3 tests |
Metachromatic leukodystrophy | 2 tests |
Metaphyseal chondrodysplasia, Jansen type | 1 test |
Methemoglobinemia type 4 | 2 tests |
Methylmalonic acidemia | 1 test |
Mevalonic aciduria | 1 test |
Microcephalic osteodysplastic primordial dwarfism type II | 2 tests |
Microcephalic primordial dwarfism due to RTTN deficiency | 1 test |
Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 test |
Microcephalic primordial dwarfism, Alazami type | 1 test |
Microcephaly 1, primary, autosomal recessive | 1 test |
Microcephaly 13, primary, autosomal recessive | 1 test |
Microcephaly 14, primary, autosomal recessive | 1 test |
Microcephaly 15, primary, autosomal recessive | 1 test |
Microcephaly 17, primary, autosomal recessive | 2 tests |
Microcephaly 2, primary, autosomal recessive, with or w |