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GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000510482.2

Allele description

GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3

Genes:
  • OAS1:2'-5'-oligoadenylate synthetase 1 [Gene - OMIM - HGNC]
  • OAS2:2'-5'-oligoadenylate synthetase 2 [Gene - OMIM - HGNC]
  • OAS3:2'-5'-oligoadenylate synthetase 3 [Gene - OMIM - HGNC]
  • OASL:2'-5'-oligoadenylate synthetase like [Gene - OMIM - HGNC]
  • OGFOD2:2-oxoglutarate and iron dependent oxygenase domain containing 2 [Gene - HGNC]
  • HPD:4-hydroxyphenylpyruvate dioxygenase [Gene - OMIM - HGNC]
  • NT5DC3:5'-nucleotidase domain containing 3 [Gene - OMIM - HGNC]
  • AKAP3:A-kinase anchoring protein 3 [Gene - OMIM - HGNC]
  • ADAMTS20:ADAM metallopeptidase with thrombospondin type 1 motif 20 [Gene - OMIM - HGNC]
  • ARF3:ADP ribosylation factor 3 [Gene - OMIM - HGNC]
  • ARL1:ADP ribosylation factor like GTPase 1 [Gene - OMIM - HGNC]
  • ARL6IP4:ADP ribosylation factor like GTPase 6 interacting protein 4 [Gene - OMIM - HGNC]
  • ART4:ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) [Gene - OMIM - HGNC]
  • AEBP2:AE binding protein 2 [Gene - OMIM - HGNC]
  • ALG10B:ALG10 alpha-1,2-glucosyltransferase B [Gene - OMIM - HGNC]
  • ALG10:ALG10 alpha-1,2-glucosyltransferase [Gene - OMIM - HGNC]
  • ALX1:ALX homeobox 1 [Gene - OMIM - HGNC]
  • ARID2:AT-rich interaction domain 2 [Gene - OMIM - HGNC]
  • ABCB9:ATP binding cassette subfamily B member 9 [Gene - OMIM - HGNC]
  • ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
  • ABCD2:ATP binding cassette subfamily D member 2 [Gene - OMIM - HGNC]
  • ATP5F1B:ATP synthase F1 subunit beta [Gene - OMIM - HGNC]
  • ATP5MC2:ATP synthase membrane subunit c locus 2 [Gene - OMIM - HGNC]
  • ATP23:ATP23 metallopeptidase and ATP synthase assembly factor homolog [Gene - OMIM - HGNC]
  • ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
  • ATP2B1:ATPase plasma membrane Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • ATP2A2:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • AGAP2:ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 [Gene - OMIM - HGNC]
  • BCL7A:BAF chromatin remodeling complex subunit BCL7A [Gene - OMIM - HGNC]
  • BCDIN3D:BCDIN3 domain containing RNA methyltransferase [Gene - OMIM - HGNC]
  • BCL2L14:BCL2 like 14 [Gene - OMIM - HGNC]
  • BICD1:BICD cargo adaptor 1 [Gene - OMIM - HGNC]
  • BICDL1:BICD family like cargo adaptor 1 [Gene - OMIM - HGNC]
  • BORCS5:BLOC-1 related complex subunit 5 [Gene - OMIM - HGNC]
  • BRAP:BRCA1 associated protein [Gene - OMIM - HGNC]
  • BRI3BP:BRI3 binding protein [Gene - OMIM - HGNC]
  • BTG1:BTG anti-proliferation factor 1 [Gene - OMIM - HGNC]
  • BBS10:Bardet-Biedl syndrome 10 [Gene - OMIM - HGNC]
  • CLEC6A:C-type lectin domain containing 6A [Gene - OMIM - HGNC]
  • CLEC7A:C-type lectin domain containing 7A [Gene - OMIM - HGNC]
  • CLEC9A:C-type lectin domain containing 9A [Gene - OMIM - HGNC]
  • CLEC1A:C-type lectin domain family 1 member A [Gene - OMIM - HGNC]
  • CLEC1B:C-type lectin domain family 1 member B [Gene - OMIM - HGNC]
  • CLEC12A:C-type lectin domain family 12 member A [Gene - OMIM - HGNC]
  • CLEC12B:C-type lectin domain family 12 member B [Gene - OMIM - HGNC]
  • CLEC2A:C-type lectin domain family 2 member A [Gene - OMIM - HGNC]
  • CLEC2B:C-type lectin domain family 2 member B [Gene - OMIM - HGNC]
  • CLEC2D:C-type lectin domain family 2 member D [Gene - OMIM - HGNC]
  • CLEC4A:C-type lectin domain family 4 member A [Gene - OMIM - HGNC]
  • CLEC4C:C-type lectin domain family 4 member C [Gene - OMIM - HGNC]
  • CLEC4D:C-type lectin domain family 4 member D [Gene - OMIM - HGNC]
  • CLEC4E:C-type lectin domain family 4 member E [Gene - OMIM - HGNC]
  • CLECL1:C-type lectin like 1 [Gene - OMIM - HGNC]
  • C2CD5:C2 calcium dependent domain containing 5 [Gene - OMIM - HGNC]
  • CLIP1:CAP-Gly domain containing linker protein 1 [Gene - OMIM - HGNC]
  • CRADD:CASP2 and RIPK1 domain containing adaptor with death domain [Gene - OMIM - HGNC]
  • CNOT2:CCR4-NOT transcription complex subunit 2 [Gene - OMIM - HGNC]
  • CD163L1:CD163 molecule like 1 [Gene - OMIM - HGNC]
  • CD163:CD163 molecule [Gene - OMIM - HGNC]
  • CD27:CD27 molecule [Gene - OMIM - HGNC]
  • CD4:CD4 molecule [Gene - OMIM - HGNC]
  • CD63:CD63 molecule [Gene - OMIM - HGNC]
  • CD69:CD69 molecule [Gene - OMIM - HGNC]
  • CD9:CD9 molecule [Gene - OMIM - HGNC]
  • CLLU1-AS1:CLLU1 antisense RNA 1 [Gene - OMIM - HGNC]
  • COPS7A:COP9 signalosome subunit 7A [Gene - OMIM - HGNC]
  • COPZ1:COPI coat complex subunit zeta 1 [Gene - OMIM - HGNC]
  • CTDSP2:CTD small phosphatase 2 [Gene - OMIM - HGNC]
  • DAO:D-amino acid oxidase [Gene - OMIM - HGNC]
  • DAZAP2:DAZ associated protein 2 [Gene - OMIM - HGNC]
  • DDX23:DEAD-box helicase 23 [Gene - OMIM - HGNC]
  • DDX47:DEAD-box helicase 47 [Gene - OMIM - HGNC]
  • DDX51:DEAD-box helicase 51 [Gene - HGNC]
  • DDX54:DEAD-box helicase 54 [Gene - OMIM - HGNC]
  • DDX55:DEAD-box helicase 55 [Gene - OMIM - HGNC]
  • DDX11:DEAD/H-box helicase 11 [Gene - OMIM - HGNC]
  • DHX37:DEAH-box helicase 37 [Gene - OMIM - HGNC]
  • DENND5B:DENN domain containing 5B [Gene - OMIM - HGNC]
  • DEPDC4:DEP domain containing 4 [Gene - HGNC]
  • DDIT3:DNA damage inducible transcript 3 [Gene - OMIM - HGNC]
  • DRAM1:DNA damage regulated autophagy modulator 1 [Gene - OMIM - HGNC]
  • HELB:DNA helicase B [Gene - OMIM - HGNC]
  • POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]
  • PRIM1:DNA primase subunit 1 [Gene - OMIM - HGNC]
  • DNAJC14:DnaJ heat shock protein family (Hsp40) member C14 [Gene - OMIM - HGNC]
  • DNAJC22:DnaJ heat shock protein family (Hsp40) member C22 [Gene - HGNC]
  • EP400:E1A binding protein p400 [Gene - OMIM - HGNC]
  • E2F7:E2F transcription factor 7 [Gene - OMIM - HGNC]
  • EEF1AKMT3:EEF1A lysine methyltransferase 3 [Gene - OMIM - HGNC]
  • ERC1:ELKS/RAB6-interacting/CAST family member 1 [Gene - OMIM - HGNC]
  • EMG1:EMG1 N1-specific pseudouridine methyltransferase [Gene - OMIM - HGNC]
  • EID3:EP300 interacting inhibitor of differentiation 3 [Gene - OMIM - HGNC]
  • ERGIC2:ERGIC and golgi 2 [Gene - OMIM - HGNC]
  • ELK3:ETS transcription factor ELK3 [Gene - OMIM - HGNC]
  • ETV6:ETS variant transcription factor 6 [Gene - OMIM - HGNC]
  • FBXW8:F-box and WD repeat domain containing 8 [Gene - OMIM - HGNC]
  • FBXL14:F-box and leucine rich repeat protein 14 [Gene - OMIM - HGNC]
  • FBXO21:F-box protein 21 [Gene - OMIM - HGNC]
  • FGFR1OP2:FGFR1 oncogene partner 2 [Gene - OMIM - HGNC]
  • FICD:FIC domain protein adenylyltransferase [Gene - HGNC]
  • FKBP11:FKBP prolyl isomerase 11 [Gene - OMIM - HGNC]
  • FKBP4:FKBP prolyl isomerase 4 [Gene - OMIM - HGNC]
  • FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
  • FGD6:FYVE, RhoGEF and PH domain containing 6 [Gene - OMIM - HGNC]
  • FAIM2:Fas apoptotic inhibitory molecule 2 [Gene - OMIM - HGNC]
  • GNB3:G protein subunit beta 3 [Gene - OMIM - HGNC]
  • GPR162:G protein-coupled receptor 162 [Gene - HGNC]
  • GPR182:G protein-coupled receptor 182 [Gene - OMIM - HGNC]
  • GPR19:G protein-coupled receptor 19 [Gene - OMIM - HGNC]
  • GPR84:G protein-coupled receptor 84 [Gene - OMIM - HGNC]
  • GPRC5A:G protein-coupled receptor class C group 5 member A [Gene - OMIM - HGNC]
  • GPRC5D:G protein-coupled receptor class C group 5 member D [Gene - OMIM - HGNC]
  • GABARAPL1:GABA type A receptor associated protein like 1 [Gene - OMIM - HGNC]
  • GCN1:GCN1 activator of EIF2AK4 [Gene - OMIM - HGNC]
  • GIT2:GIT ArfGAP 2 [Gene - OMIM - HGNC]
  • GLI1:GLI family zinc finger 1 [Gene - OMIM - HGNC]
  • GLIPR1:GLI pathogenesis related 1 [Gene - OMIM - HGNC]
  • GLIPR1L1:GLIPR1 like 1 [Gene - OMIM - HGNC]
  • GLIPR1L2:GLIPR1 like 2 [Gene - OMIM - HGNC]
  • GPN3:GPN-loop GTPase 3 [Gene - HGNC]
  • H1-7:H1.7 linker histone [Gene - OMIM - HGNC]
  • H2AJ:H2A.J histone [Gene - HGNC]
  • H3-5:H3.5 histone [Gene - OMIM - HGNC]
  • H4C16:H4 histone 16 [Gene - OMIM - HGNC]
  • HECTD4:HECT domain E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
  • HIGD1C:HIG1 hypoxia inducible domain family member 1C [Gene - HGNC]
  • HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
  • HOTAIR:HOX transcript antisense RNA [Gene - OMIM - HGNC]
  • HOXC13-AS:HOXC13 antisense RNA [Gene - HGNC]
  • IKZF4:IKAROS family zinc finger 4 [Gene - OMIM - HGNC]
  • IKBIP:IKBKB interacting protein [Gene - OMIM - HGNC]
  • IQSEC3:IQ motif and Sec7 domain ArfGEF 3 [Gene - OMIM - HGNC]
  • IQCD:IQ motif containing D [Gene - HGNC]
  • KANSL2:KAT8 regulatory NSL complex subunit 2 [Gene - OMIM - HGNC]
  • KICS2:KICSTOR subunit 2 [Gene - OMIM - HGNC]
  • KITLG:KIT ligand [Gene - OMIM - HGNC]
  • KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
  • KRR1:KRR1 small subunit processome component homolog [Gene - OMIM - HGNC]
  • LRP1:LDL receptor related protein 1 [Gene - OMIM - HGNC]
  • LRP6:LDL receptor related protein 6 [Gene - OMIM - HGNC]
  • LEMD3:LEM domain containing 3 [Gene - OMIM - HGNC]
  • LETMD1:LETM1 domain containing 1 [Gene - OMIM - HGNC]
  • LIMA1:LIM domain and actin binding 1 [Gene - OMIM - HGNC]
  • LMO3:LIM domain only 3 [Gene - OMIM - HGNC]
  • LHX5:LIM homeobox 5 [Gene - OMIM - HGNC]
  • LLPH:LLP homolog, long-term synaptic facilitation factor [Gene - OMIM - HGNC]
  • LARP4:La ribonucleoprotein 4 [Gene - OMIM - HGNC]
  • MPHOSPH9:M-phase phosphoprotein 9 [Gene - OMIM - HGNC]
  • MANSC1:MANSC domain containing 1 [Gene - HGNC]
  • MANSC4:MANSC domain containing 4 [Gene - HGNC]
  • MAPKAPK5:MAPK activated protein kinase 5 [Gene - OMIM - HGNC]
  • MDM2:MDM2 proto-oncogene [Gene - OMIM - HGNC]
  • MGAT4C:MGAT4 family member C [Gene - OMIM - HGNC]
  • MLXIP:MLX interacting protein [Gene - OMIM - HGNC]
  • MON2:MON2 homolog, regulator of endosome-to-Golgi trafficking [Gene - OMIM - HGNC]
  • MORN3:MORN repeat containing 3 [Gene - HGNC]
  • MYG1:MYG1 exonuclease [Gene - OMIM - HGNC]
  • MDM1:Mdm1 nuclear protein [Gene - OMIM - HGNC]
  • GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
  • NAA25:N-alpha-acetyltransferase 25, NatB auxiliary subunit [Gene - OMIM - HGNC]
  • NDUFA12:NADH:ubiquinone oxidoreductase subunit A12 [Gene - OMIM - HGNC]
  • NDUFA9:NADH:ubiquinone oxidoreductase subunit A9 [Gene - OMIM - HGNC]
  • NANOGNB:NANOG neighbor homeobox [Gene - HGNC]
  • NCKAP1L:NCK associated protein 1 like [Gene - OMIM - HGNC]
  • NCKAP5L:NCK associated protein 5 like [Gene - OMIM - HGNC]
  • NDUFA4L2:NDUFA4 mitochondrial complex associated like 2 [Gene - HGNC]
  • NECAP1:NECAP endocytosis associated 1 [Gene - OMIM - HGNC]
  • NEDD1:NEDD1 gamma-tubulin ring complex targeting factor [Gene - OMIM - HGNC]
  • NAB2:NGFI-A binding protein 2 [Gene - OMIM - HGNC]
  • NINJ2-AS1:NINJ2 antisense RNA 1 [Gene - HGNC]
  • NOPCHAP1:NOP protein chaperone 1 [Gene - HGNC]
  • NOP2:NOP2 nucleolar protein [Gene - OMIM - HGNC]
  • NUAK1:NUAK family kinase 1 [Gene - OMIM - HGNC]
  • NANOG:Nanog homeobox [Gene - OMIM - HGNC]
  • ORAI1:ORAI calcium release-activated calcium modulator 1 [Gene - OMIM - HGNC]
  • ORMDL2:ORMDL sphingolipid biosynthesis regulator 2 [Gene - OMIM - HGNC]
  • OS9:OS9 endoplasmic reticulum lectin [Gene - OMIM - HGNC]
  • PARPBP:PARP1 binding protein [Gene - OMIM - HGNC]
  • PCED1B:PC-esterase domain containing 1B [Gene - HGNC]
  • PDZRN4:PDZ domain containing ring finger 4 [Gene - OMIM - HGNC]
  • PGAM5:PGAM family member 5, mitochondrial serine/threonine protein phosphatase [Gene - OMIM - HGNC]
  • PHETA1:PH domain containing endocytic trafficking adaptor 1 [Gene - OMIM - HGNC]
  • PIANP:PILR alpha associated neural protein [Gene - OMIM - HGNC]
  • POC1B:POC1 centriolar protein B [Gene - OMIM - HGNC]
  • POC1B-GALNT4:POC1B-GALNT4 readthrough [Gene - HGNC]
  • POP5:POP5 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
  • POU6F1:POU class 6 homeobox 1 [Gene - OMIM - HGNC]
  • PPFIBP1:PPFIA binding protein 1 [Gene - OMIM - HGNC]
  • PRDM4:PR/SET domain 4 [Gene - OMIM - HGNC]
  • PPFIA2:PTPRF interacting protein alpha 2 [Gene - OMIM - HGNC]
  • PWP1:PWP1 homolog, endonuclein [Gene - OMIM - HGNC]
  • PYM1:PYM homolog 1, exon junction complex associated factor [Gene - OMIM - HGNC]
  • PZP:PZP alpha-2-macroglobulin like [Gene - OMIM - HGNC]
  • R3HDM2:R3H domain containing 2 [Gene - OMIM - HGNC]
  • REP15:RAB15 effector protein [Gene - OMIM - HGNC]
  • RAB21:RAB21, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB35:RAB35, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB3IP:RAB3A interacting protein [Gene - OMIM - HGNC]
  • RAB5B:RAB5B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD51AP1:RAD51 associated protein 1 [Gene - OMIM - HGNC]
  • RAD52:RAD52 homolog, DNA repair protein [Gene - OMIM - HGNC]
  • RAD9B:RAD9 checkpoint clamp component B [Gene - OMIM - HGNC]
  • RHNO1:RAD9-HUS1-RAD1 interacting nuclear orphan 1 [Gene - OMIM - HGNC]
  • RAN:RAN, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAP1B:RAP1B, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RERG:RAS like estrogen regulated growth inhibitor [Gene - OMIM - HGNC]
  • RASAL1:RAS protein activator like 1 [Gene - OMIM - HGNC]
  • RITA1:RBPJ interacting and tubulin associated 1 [Gene - HGNC]
  • RERGL:RERG like [Gene - HGNC]
  • RHEBL1:RHEB like 1 [Gene - OMIM - HGNC]
  • RIC8B:RIC8 guanine nucleotide exchange factor B [Gene - OMIM - HGNC]
  • RIMBP2:RIMS binding protein 2 [Gene - OMIM - HGNC]
  • RLIG1:RNA 5'-phosphate and 3'-OH ligase 1 [Gene - HGNC]
  • RBM19:RNA binding motif protein 19 [Gene - OMIM - HGNC]
  • RBMS2:RNA binding motif single stranded interacting protein 2 [Gene - OMIM - HGNC]
  • RPAP3:RNA polymerase II associated protein 3 [Gene - OMIM - HGNC]
  • POLR3B:RNA polymerase III subunit B [Gene - OMIM - HGNC]
  • RILPL1:Rab interacting lysosomal protein like 1 [Gene - OMIM - HGNC]
  • RILPL2:Rab interacting lysosomal protein like 2 [Gene - OMIM - HGNC]
  • RACGAP1:Rac GTPase activating protein 1 [Gene - OMIM - HGNC]
  • RAPGEF3:Rap guanine nucleotide exchange factor 3 [Gene - OMIM - HGNC]
  • RASSF3:Ras association domain family member 3 [Gene - OMIM - HGNC]
  • RASSF8:Ras association domain family member 8 [Gene - OMIM - HGNC]
  • RASSF9:Ras association domain family member 9 [Gene - OMIM - HGNC]
  • RECQL:RecQ like helicase [Gene - OMIM - HGNC]
  • ARHGDIB:Rho GDP dissociation inhibitor beta [Gene - OMIM - HGNC]
  • ARHGAP9:Rho GTPase activating protein 9 [Gene - OMIM - HGNC]
  • RND1:Rho family GTPase 1 [Gene - OMIM - HGNC]
  • ARHGEF25:Rho guanine nucleotide exchange factor 25 [Gene - OMIM - HGNC]
  • SARNP:SAP domain containing ribonucleoprotein [Gene - OMIM - HGNC]
  • SCYL2:SCY1 like pseudokinase 2 [Gene - OMIM - HGNC]
  • SUDS3:SDS3 homolog, SIN3A corepressor complex component [Gene - OMIM - HGNC]
  • SETD1B:SET domain containing 1B, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • SH2B3:SH2B adaptor protein 3 [Gene - OMIM - HGNC]
  • STAC3:SH3 and cysteine rich domain 3 [Gene - OMIM - HGNC]
  • SINHCAF:SIN3-HDAC complex associated factor [Gene - OMIM - HGNC]
  • SRGAP1:SLIT-ROBO Rho GTPase activating protein 1 [Gene - OMIM - HGNC]
  • SPRYD3:SPRY domain containing 3 [Gene - HGNC]
  • SPRYD4:SPRY domain containing 4 [Gene - HGNC]
  • SCAF11:SR-related CTD associated factor 11 [Gene - OMIM - HGNC]
  • SPRING1:SREBF pathway regulator in golgi 1 [Gene - HGNC]
  • SOX5:SRY-box transcription factor 5 [Gene - OMIM - HGNC]
  • ST8SIA1:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 [Gene - OMIM - HGNC]
  • SENP1:SUMO specific peptidase 1 [Gene - OMIM - HGNC]
  • SVOP:SV2 related protein [Gene - OMIM - HGNC]
  • SMARCC2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Gene - OMIM - HGNC]
  • SMARCD1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 [Gene - OMIM - HGNC]
  • SP1:Sp1 transcription factor [Gene - OMIM - HGNC]
  • SP7:Sp7 transcription factor [Gene - OMIM - HGNC]
  • SPIC:Spi-C transcription factor [Gene - OMIM - HGNC]
  • TBX3:T-box transcription factor 3 [Gene - OMIM - HGNC]
  • TBX5:T-box transcription factor 5 [Gene - OMIM - HGNC]
  • TAFA2:TAFA chemokine like family member 2 [Gene - OMIM - HGNC]
  • TBK1:TANK binding kinase 1 [Gene - OMIM - HGNC]
  • TAOK3:TAO kinase 3 [Gene - OMIM - HGNC]
  • TAPBPL:TAP binding protein like [Gene - OMIM - HGNC]
  • TARBP2:TARBP2 subunit of RISC loading complex [Gene - OMIM - HGNC]
  • TBC1D15:TBC1 domain family member 15 [Gene - OMIM - HGNC]
  • TBC1D30:TBC1 domain family member 30 [Gene - OMIM - HGNC]
  • TEAD4:TEA domain transcription factor 4 [Gene - OMIM - HGNC]
  • THAP2:THAP domain containing 2 [Gene - OMIM - HGNC]
  • TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]
  • TIGAR:TP53 induced glycolysis regulatory phosphatase [Gene - OMIM - HGNC]
  • TRIAP1:TP53 regulated inhibitor of apoptosis 1 [Gene - OMIM - HGNC]
  • TRAFD1:TRAF-type zinc finger domain containing 1 [Gene - OMIM - HGNC]
  • TULP3:TUB like protein 3 [Gene - OMIM - HGNC]
  • TSFM:Ts translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • B3GNT4:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [Gene - OMIM - HGNC]
  • UTP20:UTP20 small subunit processome component [Gene - OMIM - HGNC]
  • VSIG10:V-set and immunoglobulin domain containing 10 [Gene - HGNC]
  • VPS29:VPS29 retromer complex component [Gene - OMIM - HGNC]
  • VPS33A:VPS33A core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • VPS37B:VPS37B subunit of ESCRT-I [Gene - OMIM - HGNC]
  • WASHC3:WASH complex subunit 3 [Gene - OMIM - HGNC]
  • WASHC4:WASH complex subunit 4 [Gene - OMIM - HGNC]
  • WSB2:WD repeat and SOCS box containing 2 [Gene - HGNC]
  • WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
  • WIF1:WNT inhibitory factor 1 [Gene - OMIM - HGNC]
  • WSCD2:WSC domain containing 2 [Gene - OMIM - HGNC]
  • WBP11:WW domain binding protein 11 [Gene - OMIM - HGNC]
  • WNT10B:Wnt family member 10B [Gene - OMIM - HGNC]
  • WNT1:Wnt family member 1 [Gene - OMIM - HGNC]
  • WNT5B:Wnt family member 5B [Gene - OMIM - HGNC]
  • YBX3:Y-box binding protein 3 [Gene - OMIM - HGNC]
  • YEATS4:YEATS domain containing 4 [Gene - OMIM - HGNC]
  • YAF2:YY1 associated factor 2 [Gene - OMIM - HGNC]
  • AACS:acetoacetyl-CoA synthetase [Gene - OMIM - HGNC]
  • ACACB:acetyl-CoA carboxylase beta [Gene - OMIM - HGNC]
  • ASCL1:achaete-scute family bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • ASCL4:achaete-scute family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • ASIC1:acid sensing ion channel subunit 1 [Gene - OMIM - HGNC]
  • ANP32D:acidic nuclear phosphoprotein 32 family member D [Gene - OMIM - HGNC]
  • ACRBP:acrosin binding protein [Gene - OMIM - HGNC]
  • ARPC3:actin related protein 2/3 complex subunit 3 [Gene - OMIM - HGNC]
  • ACTR6:actin related protein 6 [Gene - OMIM - HGNC]
  • ATF1:activating transcription factor 1 [Gene - OMIM - HGNC]
  • ATF7IP:activating transcription factor 7 interacting protein [Gene - OMIM - HGNC]
  • ATF7:activating transcription factor 7 [Gene - OMIM - HGNC]
  • AICDA:activation induced cytidine deaminase [Gene - OMIM - HGNC]
  • ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
  • ACVR1B:activin A receptor type 1B [Gene - OMIM - HGNC]
  • ACAD10:acyl-CoA dehydrogenase family member 10 [Gene - OMIM - HGNC]
  • ACADS:acyl-CoA dehydrogenase short chain [Gene - OMIM - HGNC]
  • ACSM4:acyl-CoA synthetase medium chain family member 4 [Gene - OMIM - HGNC]
  • ACSS3:acyl-CoA synthetase short chain family member 3 [Gene - OMIM - HGNC]
  • APPL2:adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 [Gene - OMIM - HGNC]
  • ADCY6:adenylate cyclase 6 [Gene - OMIM - HGNC]
  • ADGRD1:adhesion G protein-coupled receptor D1 [Gene - OMIM - HGNC]
  • AMIGO2:adhesion molecule with Ig like domain 2 [Gene - OMIM - HGNC]
  • ADIPOR2:adiponectin receptor 2 [Gene - OMIM - HGNC]
  • AVIL:advillin [Gene - OMIM - HGNC]
  • AAAS:aladin WD repeat nucleoporin [Gene - OMIM - HGNC]
  • ALDH1L2:aldehyde dehydrogenase 1 family member L2 [Gene - OMIM - HGNC]
  • ALDH2:aldehyde dehydrogenase 2 family member [Gene - OMIM - HGNC]
  • ALKBH2:alkB homolog 2, alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
  • A2ML1:alpha-2-macroglobulin like 1 [Gene - OMIM - HGNC]
  • A2M:alpha-2-macroglobulin [Gene - OMIM - HGNC]
  • AMDHD1:amidohydrolase domain containing 1 [Gene - HGNC]
  • ANAPC5:anaphase promoting complex subunit 5 [Gene - OMIM - HGNC]
  • ANAPC7:anaphase promoting complex subunit 7 [Gene - OMIM - HGNC]
  • ABTB3:ankyrin repeat and BTB domain containing 3 [Gene - HGNC]
  • ANKLE2:ankyrin repeat and LEM domain containing 2 [Gene - OMIM - HGNC]
  • ASB8:ankyrin repeat and SOCS box containing 8 [Gene - OMIM - HGNC]
  • ANKS1B:ankyrin repeat and sterile alpha motif domain containing 1B [Gene - OMIM - HGNC]
  • ANKRD13A:ankyrin repeat domain 13A [Gene - OMIM - HGNC]
  • ANKRD33:ankyrin repeat domain 33 [Gene - HGNC]
  • ANKRD52:ankyrin repeat domain 52 [Gene - HGNC]
  • ANO2:anoctamin 2 [Gene - OMIM - HGNC]
  • ANO4:anoctamin 4 [Gene - OMIM - HGNC]
  • ANO6:anoctamin 6 [Gene - OMIM - HGNC]
  • AMN1:antagonist of mitotic exit network 1 homolog [Gene - HGNC]
  • AMHR2:anti-Mullerian hormone receptor type 2 [Gene - OMIM - HGNC]
  • APOBEC1:apolipoprotein B mRNA editing enzyme catalytic subunit 1 [Gene - OMIM - HGNC]
  • APOF:apolipoprotein F [Gene - OMIM - HGNC]
  • APOLD1:apolipoprotein L domain containing 1 [Gene - OMIM - HGNC]
  • APAF1:apoptotic peptidase activating factor 1 [Gene - OMIM - HGNC]
  • AQP2:aquaporin 2 [Gene - OMIM - HGNC]
  • AQP5:aquaporin 5 [Gene - OMIM - HGNC]
  • AQP6:aquaporin 6 [Gene - OMIM - HGNC]
  • RSRC2:arginine and serine rich coiled-coil 2 [Gene - OMIM - HGNC]
  • AVPR1A:arginine vasopressin receptor 1A [Gene - OMIM - HGNC]
  • ATXN2:ataxin 2 [Gene - OMIM - HGNC]
  • ATXN7L3B:ataxin 7 like 3B [Gene - OMIM - HGNC]
  • ATN1:atrophin 1 [Gene - OMIM - HGNC]
  • ATG101:autophagy related 101 [Gene - OMIM - HGNC]
  • BMAL2:basic helix-loop-helix ARNT like 2 [Gene - OMIM - HGNC]
  • BHLHE41:basic helix-loop-helix family member e41 [Gene - OMIM - HGNC]
  • BEST3:bestrophin 3 [Gene - OMIM - HGNC]
  • B4GALNT1:beta-1,4-N-acetyl-galactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • B4GALNT3:beta-1,4-N-acetyl-galactosaminyltransferase 3 [Gene - OMIM - HGNC]
  • BLOC1S1:biogenesis of lysosomal organelles complex 1 subunit 1 [Gene - OMIM - HGNC]
  • BCAT1:branched chain amino acid transaminase 1 [Gene - OMIM - HGNC]
  • BLTP3B:bridge-like lipid transfer protein family member 3B [Gene - OMIM - HGNC]
  • BIN2:bridging integrator 2 [Gene - OMIM - HGNC]
  • BAZ2A:bromodomain adjacent to zinc finger domain 2A [Gene - OMIM - HGNC]
  • CREBL2:cAMP responsive element binding protein like 2 [Gene - OMIM - HGNC]
  • CALCOCO1:calcium binding and coiled-coil domain 1 [Gene - HGNC]
  • CABP1:calcium binding protein 1 [Gene - OMIM - HGNC]
  • CRACR2A:calcium release activated channel regulator 2A [Gene - OMIM - HGNC]
  • CACNA2D4:calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Gene - OMIM - HGNC]
  • CACNB3:calcium voltage-gated channel auxiliary subunit beta 3 [Gene - OMIM - HGNC]
  • CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
  • CAMKK2:calcium/calmodulin dependent protein kinase kinase 2 [Gene - OMIM - HGNC]
  • CAPS2:calcyphosine 2 [Gene - OMIM - HGNC]
  • CLSTN3:calsyntenin 3 [Gene - OMIM - HGNC]
  • CNPY2:canopy FGF signaling regulator 2 [Gene - OMIM - HGNC]
  • CAPZA3:capping actin protein of muscle Z-line subunit alpha 3 [Gene - OMIM - HGNC]
  • CAPRIN2:caprin family member 2 [Gene - OMIM - HGNC]
  • CHST11:carbohydrate sulfotransferase 11 [Gene - OMIM - HGNC]
  • CPM:carboxypeptidase M [Gene - OMIM - HGNC]
  • CDCA3:cell division cycle associated 3 [Gene - OMIM - HGNC]
  • CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]
  • CEP83:centrosomal protein 83 [Gene - OMIM - HGNC]
  • CERS5:ceramide synthase 5 [Gene - OMIM - HGNC]
  • CCT2:chaperonin containing TCP1 subunit 2 [Gene - OMIM - HGNC]
  • CHFR:checkpoint with forkhead and ring finger domains [Gene - OMIM - HGNC]
  • CMKLR1:chemerin chemokine-like receptor 1 [Gene - OMIM - HGNC]
  • CHPT1:choline phosphotransferase 1 [Gene - OMIM - HGNC]
  • CBX5:chromobox 5 [Gene - OMIM - HGNC]
  • CHD4:chromodomain helicase DNA binding protein 4 [Gene - OMIM - HGNC]
  • C12orf42:chromosome 12 open reading frame 42 [Gene - HGNC]
  • C12orf43:chromosome 12 open reading frame 43 [Gene - HGNC]
  • C12orf4:chromosome 12 open reading frame 4 [Gene - OMIM - HGNC]
  • C12orf50:chromosome 12 open reading frame 50 [Gene - HGNC]
  • C12orf54:chromosome 12 open reading frame 54 [Gene - HGNC]
  • C12orf56:chromosome 12 open reading frame 56 [Gene - HGNC]
  • C12orf57:chromosome 12 open reading frame 57 [Gene - OMIM - HGNC]
  • C12orf60:chromosome 12 open reading frame 60 [Gene - HGNC]
  • C12orf71:chromosome 12 open reading frame 71 [Gene - HGNC]
  • C12orf74:chromosome 12 open reading frame 74 [Gene - HGNC]
  • C12orf75:chromosome 12 open reading frame 75 [Gene - HGNC]
  • C12orf76:chromosome 12 open reading frame 76 [Gene - HGNC]
  • CLLU1:chronic lymphocytic leukemia up-regulated 1 [Gene - OMIM - HGNC]
  • CELA1:chymotrypsin like elastase 1 [Gene - OMIM - HGNC]
  • CFAP251:cilia and flagella associated protein 251 [Gene - OMIM - HGNC]
  • CFAP54:cilia and flagella associated protein 54 [Gene - HGNC]
  • CFAP73:cilia and flagella associated protein 73 [Gene - HGNC]
  • CS:citrate synthase [Gene - OMIM - HGNC]
  • CIT:citron rho-interacting serine/threonine kinase [Gene - OMIM - HGNC]
  • CPSF6:cleavage and polyadenylation specific factor 6 [Gene - OMIM - HGNC]
  • COQ10A:coenzyme Q10A [Gene - HGNC]
  • COQ5:coenzyme Q5, methyltransferase [Gene - OMIM - HGNC]
  • CCDC184:coiled-coil domain containing 184 [Gene - HGNC]
  • CCDC38:coiled-coil domain containing 38 [Gene - HGNC]
  • CCDC59:coiled-coil domain containing 59 [Gene - OMIM - HGNC]
  • CCDC60:coiled-coil domain containing 60 [Gene - HGNC]
  • CCDC62:coiled-coil domain containing 62 [Gene - OMIM - HGNC]
  • CCDC63:coiled-coil domain containing 63 [Gene - OMIM - HGNC]
  • CCDC65:coiled-coil domain containing 65 [Gene - OMIM - HGNC]
  • CCDC77:coiled-coil domain containing 77 [Gene - HGNC]
  • CCDC91:coiled-coil domain containing 91 [Gene - OMIM - HGNC]
  • CCDC92:coiled-coil domain containing 92 [Gene - HGNC]
  • CCER1:coiled-coil glutamate rich protein 1 [Gene - HGNC]
  • COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
  • C1QL4:complement C1q like 4 [Gene - OMIM - HGNC]
  • C1RL:complement C1r subcomponent like [Gene - OMIM - HGNC]
  • C1R:complement C1r [Gene - OMIM - HGNC]
  • C1S:complement C1s [Gene - OMIM - HGNC]
  • C3AR1:complement C3a receptor 1 [Gene - OMIM - HGNC]
  • CNTN1:contactin 1 [Gene - OMIM - HGNC]
  • CPNE8:copine 8 [Gene - HGNC]
  • CORO1C:coronin 1C [Gene - OMIM - HGNC]
  • CRY1:cryptochrome circadian regulator 1 [Gene - OMIM - HGNC]
  • CAND1:cullin associated and neddylation dissociated 1 [Gene - OMIM - HGNC]
  • CUX2:cut like homeobox 2 [Gene - OMIM - HGNC]
  • CCND2:cyclin D2 [Gene - OMIM - HGNC]
  • CCNT1:cyclin T1 [Gene - OMIM - HGNC]
  • CDK17:cyclin dependent kinase 17 [Gene - OMIM - HGNC]
  • CDK2AP1:cyclin dependent kinase 2 associated protein 1 [Gene - OMIM - HGNC]
  • CDK2:cyclin dependent kinase 2 [Gene - OMIM - HGNC]
  • CDK4:cyclin dependent kinase 4 [Gene - OMIM - HGNC]
  • CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]
  • CSRP2:cysteine and glycine rich protein 2 [Gene - OMIM - HGNC]
  • CSRNP2:cysteine and serine rich nuclear protein 2 [Gene - OMIM - HGNC]
  • CSAD:cysteine sulfinic acid decarboxylase [Gene - OMIM - HGNC]
  • CMAS:cytidine monophosphate N-acetylneuraminic acid synthetase [Gene - OMIM - HGNC]
  • CYP27B1:cytochrome P450 family 27 subfamily B member 1 [Gene - OMIM - HGNC]
  • COX14:cytochrome c oxidase assembly factor COX14 [Gene - OMIM - HGNC]
  • COX6A1:cytochrome c oxidase subunit 6A1 [Gene - OMIM - HGNC]
  • CKAP4:cytoskeleton associated protein 4 [Gene - OMIM - HGNC]
  • DCP1B:decapping mRNA 1B [Gene - OMIM - HGNC]
  • DCN:decorin [Gene - OMIM - HGNC]
  • DTX1:deltex E3 ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • DTX3:deltex E3 ubiquitin ligase 3 [Gene - OMIM - HGNC]
  • DDN:dendrin [Gene - OMIM - HGNC]
  • DENR:density regulated re-initiation and release factor [Gene - OMIM - HGNC]
  • DERA:deoxyribose-phosphate aldolase [Gene - OMIM - HGNC]
  • DCD:dermcidin [Gene - OMIM - HGNC]
  • DHH:desert hedgehog signaling molecule [Gene - OMIM - HGNC]
  • DBX2:developing brain homeobox 2 [Gene - HGNC]
  • DPPA3:developmental pluripotency associated 3 [Gene - OMIM - HGNC]
  • DIABLO:diablo IAP-binding mitochondrial protein [Gene - OMIM - HGNC]
  • DGKA:diacylglycerol kinase alpha [Gene - OMIM - HGNC]
  • DIP2B:disco interacting protein 2 homolog B [Gene - OMIM - HGNC]
  • DPY19L2:dpy-19 like 2 [Gene - OMIM - HGNC]
  • DUSP16:dual specificity phosphatase 16 [Gene - OMIM - HGNC]
  • DUSP6:dual specificity phosphatase 6 [Gene - OMIM - HGNC]
  • DYRK2:dual specificity tyrosine phosphorylation regulated kinase 2 [Gene - OMIM - HGNC]
  • DYRK4:dual specificity tyrosine phosphorylation regulated kinase 4 [Gene - OMIM - HGNC]
  • DCTN2:dynactin subunit 2 [Gene - OMIM - HGNC]
  • DNM1L:dynamin 1 like [Gene - OMIM - HGNC]
  • DNAH10:dynein axonemal heavy chain 10 [Gene - OMIM - HGNC]
  • DNAI7:dynein axonemal intermediate chain 7 [Gene - OMIM - HGNC]
  • DYNLL1:dynein light chain LC8-type 1 [Gene - OMIM - HGNC]
  • EEA1:early endosome antigen 1 [Gene - OMIM - HGNC]
  • ETFRF1:electron transfer flavoprotein regulatory factor 1 [Gene - HGNC]
  • ETFBKMT:electron transfer flavoprotein subunit beta lysine methyltransferase [Gene - OMIM - HGNC]
  • ENDOU:endonuclease, poly(U) specific [Gene - OMIM - HGNC]
  • ERP27:endoplasmic reticulum protein 27 [Gene - OMIM - HGNC]
  • ERP29:endoplasmic reticulum protein 29 [Gene - OMIM - HGNC]
  • ENO2:enolase 2 [Gene - OMIM - HGNC]
  • EPS8:epidermal growth factor receptor pathway substrate 8 [Gene - OMIM - HGNC]
  • EPYC:epiphycan [Gene - OMIM - HGNC]
  • EMP1:epithelial membrane protein 1 [Gene - OMIM - HGNC]
  • ERBB3:erb-b2 receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • ETNK1:ethanolamine kinase 1 [Gene - OMIM - HGNC]
  • EIF2B1:eukaryotic translation initiation factor 2B subunit alpha [Gene - OMIM - HGNC]
  • EIF4B:eukaryotic translation initiation factor 4B [Gene - OMIM - HGNC]
  • XPOT:exportin for tRNA [Gene - OMIM - HGNC]
  • ESYT1:extended synaptotagmin 1 [Gene - OMIM - HGNC]
  • ESPL1:extra spindle pole bodies like 1, separase [Gene - OMIM - HGNC]
  • FAM186A:family with sequence similarity 186 member A [Gene - HGNC]
  • FAM186B:family with sequence similarity 186 member B [Gene - HGNC]
  • FAM216A:family with sequence similarity 216 member A [Gene - HGNC]
  • FAM222A:family with sequence similarity 222 member A [Gene - HGNC]
  • FAM234B:family with sequence similarity 234 member B [Gene - OMIM - HGNC]
  • FAM90A1:family with sequence similarity 90 member A1 [Gene - OMIM - HGNC]
  • FAR2:fatty acyl-CoA reductase 2 [Gene - OMIM - HGNC]
  • FGF23:fibroblast growth factor 23 [Gene - OMIM - HGNC]
  • FGF6:fibroblast growth factor 6 [Gene - OMIM - HGNC]
  • FRS2:fibroblast growth factor receptor substrate 2 [Gene - OMIM - HGNC]
  • FBRSL1:fibrosin like 1 [Gene - OMIM - HGNC]
  • FIGNL2:fidgetin like 2 [Gene - OMIM - HGNC]
  • FOXJ2:forkhead box J2 [Gene - OMIM - HGNC]
  • FOXM1:forkhead box M1 [Gene - OMIM - HGNC]
  • FOXN4:forkhead box N4 [Gene - OMIM - HGNC]
  • FMNL3:formin like 3 [Gene - OMIM - HGNC]
  • FZD10:frizzled class receptor 10 [Gene - OMIM - HGNC]
  • GTSF1:gametocyte specific factor 1 [Gene - OMIM - HGNC]
  • GTF2H3:general transcription factor IIH subunit 3 [Gene - OMIM - HGNC]
  • GSG1:germ cell associated 1 [Gene - HGNC]
  • GNS:glucosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
  • GXYLT1:glucoside xylosyltransferase 1 [Gene - OMIM - HGNC]
  • GRIN2B:glutamate ionotropic receptor NMDA type subunit 2B [Gene - OMIM - HGNC]
  • GRIP1:glutamate receptor interacting protein 1 [Gene - OMIM - HGNC]
  • GLS2:glutaminase 2 [Gene - OMIM - HGNC]
  • GATC:glutamyl-tRNA amidotransferase subunit C [Gene - OMIM - HGNC]
  • GAPDH:glyceraldehyde-3-phosphate dehydrogenase [Gene - OMIM - HGNC]
  • GPD1:glycerol-3-phosphate dehydrogenase 1 [Gene - OMIM - HGNC]
  • GYS2:glycogen synthase 2 [Gene - OMIM - HGNC]
  • GLTP:glycolipid transfer protein [Gene - OMIM - HGNC]
  • GLT1D1:glycosyltransferase 1 domain containing 1 [Gene - HGNC]
  • GLT8D2:glycosyltransferase 8 domain containing 2 [Gene - HGNC]
  • GARIN6:golgi associated RAB2 interactor family member 6 [Gene - HGNC]
  • GOLT1B:golgi transport 1B [Gene - OMIM - HGNC]
  • GOLGA3:golgin A3 [Gene - OMIM - HGNC]
  • GAS2L3:growth arrest specific 2 like 3 [Gene - OMIM - HGNC]
  • GDF11:growth differentiation factor 11 [Gene - OMIM - HGNC]
  • GDF3:growth differentiation factor 3 [Gene - OMIM - HGNC]
  • GUCY2C:guanylate cyclase 2C [Gene - OMIM - HGNC]
  • HRK:harakiri, BCL2 interacting protein [Gene - OMIM - HGNC]
  • HSP90B1:heat shock protein 90 beta family member 1 [Gene - OMIM - HGNC]
  • HSPB8:heat shock protein family B (small) member 8 [Gene - OMIM - HGNC]
  • HEBP1:heme binding protein 1 [Gene - OMIM - HGNC]
  • HNRNPA1:heterogeneous nuclear ribonucleoprotein A1 [Gene - OMIM - HGNC]
  • HMGA2:high mobility group AT-hook 2 [Gene - OMIM - HGNC]
  • HAL:histidine ammonia-lyase [Gene - OMIM - HGNC]
  • HDAC7:histone deacetylase 7 [Gene - OMIM - HGNC]
  • HOXC10:homeobox C10 [Gene - OMIM - HGNC]
  • HOXC11:homeobox C11 [Gene - OMIM - HGNC]
  • HOXC12:homeobox C12 [Gene - OMIM - HGNC]
  • HOXC13:homeobox C13 [Gene - OMIM - HGNC]
  • HOXC4:homeobox C4 [Gene - OMIM - HGNC]
  • HOXC5:homeobox C5 [Gene - OMIM - HGNC]
  • HOXC6:homeobox C6 [Gene - OMIM - HGNC]
  • HOXC8:homeobox C8 [Gene - OMIM - HGNC]
  • HOXC9:homeobox C9 [Gene - OMIM - HGNC]
  • HCFC2:host cell factor C2 [Gene - OMIM - HGNC]
  • HIP1R:huntingtin interacting protein 1 related [Gene - OMIM - HGNC]
  • HVCN1:hydrogen voltage gated channel 1 [Gene - OMIM - HGNC]
  • HCAR1:hydroxycarboxylic acid receptor 1 [Gene - OMIM - HGNC]
  • HCAR2:hydroxycarboxylic acid receptor 2 [Gene - OMIM - HGNC]
  • HCAR3:hydroxycarboxylic acid receptor 3 [Gene - OMIM - HGNC]
  • HSD17B6:hydroxysteroid 17-beta dehydrogenase 6 [Gene - OMIM - HGNC]
  • IPO8:importin 8 [Gene - OMIM - HGNC]
  • INHBC:inhibin subunit beta C [Gene - OMIM - HGNC]
  • INHBE:inhibin subunit beta E [Gene - OMIM - HGNC]
  • ING4:inhibitor of growth family member 4 [Gene - OMIM - HGNC]
  • IRAG2:inositol 1,4,5-triphosphate receptor associated 2 [Gene - OMIM - HGNC]
  • ITPR2:inositol 1,4,5-trisphosphate receptor type 2 [Gene - OMIM - HGNC]
  • IGF1:insulin like growth factor 1 [Gene - OMIM - HGNC]
  • IGFBP6:insulin like growth factor binding protein 6 [Gene - OMIM - HGNC]
  • INTS13:integrator complex subunit 13 [Gene - OMIM - HGNC]
  • ITFG2:integrin alpha FG-GAP repeat containing 2 [Gene - OMIM - HGNC]
  • ITGA5:integrin subunit alpha 5 [Gene - OMIM - HGNC]
  • ITGA7:integrin subunit alpha 7 [Gene - OMIM - HGNC]
  • ITGB7:integrin subunit beta 7 [Gene - OMIM - HGNC]
  • IFNG:interferon gamma [Gene - OMIM - HGNC]
  • IRAK3:interleukin 1 receptor associated kinase 3 [Gene - OMIM - HGNC]
  • IRAK4:interleukin 1 receptor associated kinase 4 [Gene - OMIM - HGNC]
  • IL22:interleukin 22 [Gene - OMIM - HGNC]
  • IL23A:interleukin 23 subunit alpha [Gene - OMIM - HGNC]
  • IL26:interleukin 26 [Gene - OMIM - HGNC]
  • IL31:interleukin 31 [Gene - OMIM - HGNC]
  • IFFO1:intermediate filament family orphan 1 [Gene - OMIM - HGNC]
  • IFT81:intraflagellar transport 81 [Gene - OMIM - HGNC]
  • ISCU:iron-sulfur cluster assembly enzyme [Gene - OMIM - HGNC]
  • IAPP:islet amyloid polypeptide [Gene - OMIM - HGNC]
  • KLHL42:kelch like family member 42 [Gene - OMIM - HGNC]
  • KRT18:keratin 18 [Gene - OMIM - HGNC]
  • KRT1:keratin 1 [Gene - OMIM - HGNC]
  • KRT2:keratin 2 [Gene - OMIM - HGNC]
  • KRT3:keratin 3 [Gene - OMIM - HGNC]
  • KRT4:keratin 4 [Gene - OMIM - HGNC]
  • KRT5:keratin 5 [Gene - OMIM - HGNC]
  • KRT6A:keratin 6A [Gene - OMIM - HGNC]
  • KRT6B:keratin 6B [Gene - OMIM - HGNC]
  • KRT6C:keratin 6C [Gene - OMIM - HGNC]
  • KRT71:keratin 71 [Gene - OMIM - HGNC]
  • KRT72:keratin 72 [Gene - OMIM - HGNC]
  • KRT73:keratin 73 [Gene - OMIM - HGNC]
  • KRT74:keratin 74 [Gene - OMIM - HGNC]
  • KRT75:keratin 75 [Gene - OMIM - HGNC]
  • KRT76:keratin 76 [Gene - OMIM - HGNC]
  • KRT77:keratin 77 [Gene - OMIM - HGNC]
  • KRT78:keratin 78 [Gene - OMIM - HGNC]
  • KRT79:keratin 79 [Gene - OMIM - HGNC]
  • KRT7:keratin 7 [Gene - OMIM - HGNC]
  • KRT80:keratin 80 [Gene - OMIM - HGNC]
  • KRT81:keratin 81 [Gene - OMIM - HGNC]
  • KRT82:keratin 82 [Gene - OMIM - HGNC]
  • KRT83:keratin 83 [Gene - OMIM - HGNC]
  • KRT84:keratin 84 [Gene - OMIM - HGNC]
  • KRT85:keratin 85 [Gene - OMIM - HGNC]
  • KRT86:keratin 86 [Gene - OMIM - HGNC]
  • KRT8:keratin 8 [Gene - OMIM - HGNC]
  • KERA:keratocan [Gene - OMIM - HGNC]
  • KLRB1:killer cell lectin like receptor B1 [Gene - OMIM - HGNC]
  • KLRC1:killer cell lectin like receptor C1 [Gene - OMIM - HGNC]
  • KLRC2:killer cell lectin like receptor C2 [Gene - OMIM - HGNC]
  • KLRC3:killer cell lectin like receptor C3 [Gene - OMIM - HGNC]
  • KLRC4:killer cell lectin like receptor C4 [Gene - OMIM - HGNC]
  • KLRD1:killer cell lectin like receptor D1 [Gene - OMIM - HGNC]
  • KLRF1:killer cell lectin like receptor F1 [Gene - OMIM - HGNC]
  • KLRF2:killer cell lectin like receptor F2 [Gene - OMIM - HGNC]
  • KLRG1:killer cell lectin like receptor G1 [Gene - OMIM - HGNC]
  • KLRK1:killer cell lectin like receptor K1 [Gene - OMIM - HGNC]
  • KSR2:kinase suppressor of ras 2 [Gene - OMIM - HGNC]
  • KIF21A:kinesin family member 21A [Gene - OMIM - HGNC]
  • KIF5A:kinesin family member 5A [Gene - OMIM - HGNC]
  • KNTC1:kinetochore associated 1 [Gene - OMIM - HGNC]
  • LACRT:lacritin [Gene - OMIM - HGNC]
  • LALBA:lactalbumin alpha [Gene - OMIM - HGNC]
  • LDHB:lactate dehydrogenase B [Gene - OMIM - HGNC]
  • LMNTD1:lamin tail domain containing 1 [Gene - OMIM - HGNC]
  • LRCOL1:leucine rich colipase like 1 [Gene - HGNC]
  • LRRC10:leucine rich repeat containing 10 [Gene - OMIM - HGNC]
  • LRRC23:leucine rich repeat containing 23 [Gene - HGNC]
  • LRRC43:leucine rich repeat containing 43 [Gene - HGNC]
  • LGR5:leucine rich repeat containing G protein-coupled receptor 5 [Gene - OMIM - HGNC]
  • LRRK2:leucine rich repeat kinase 2 [Gene - OMIM - HGNC]
  • LRRIQ1:leucine rich repeats and IQ motif containing 1 [Gene - HGNC]
  • LRIG3:leucine rich repeats and immunoglobulin like domains 3 [Gene - OMIM - HGNC]
  • LRTM2:leucine rich repeats and transmembrane domains 2 [Gene - HGNC]
  • LTA4H:leukotriene A4 hydrolase [Gene - OMIM - HGNC]
  • LMBR1L:limb development membrane protein 1 like [Gene - OMIM - HGNC]
  • LIN7A:lin-7 homolog A, crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • LINC01619:long intergenic non-protein coding RNA 1619 [Gene - HGNC]
  • LINC02874:long intergenic non-protein coding RNA 2874 [Gene - HGNC]
  • LINC02909:long intergenic non-protein coding RNA 2909 [Gene - HGNC]
  • LUM:lumican [Gene - OMIM - HGNC]
  • LAG3:lymphocyte activating 3 [Gene - OMIM - HGNC]
  • LTBR:lymphotoxin beta receptor [Gene - OMIM - HGNC]
  • KDM2B:lysine demethylase 2B [Gene - OMIM - HGNC]
  • KDM5A:lysine demethylase 5A [Gene - OMIM - HGNC]
  • KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]
  • KMT5A:lysine methyltransferase 5A [Gene - OMIM - HGNC]
  • LPAR5:lysophosphatidic acid receptor 5 [Gene - OMIM - HGNC]
  • LPCAT3:lysophosphatidylcholine acyltransferase 3 [Gene - OMIM - HGNC]
  • LYZ:lysozyme [Gene - OMIM - HGNC]
  • MAGOHB:mago homolog B, exon junction complex subunit [Gene - OMIM - HGNC]
  • MFSD5:major facilitator superfamily domain containing 5 [Gene - OMIM - HGNC]
  • MIP:major intrinsic protein of lens fiber [Gene - OMIM - HGNC]
  • MLEC:malectin [Gene - OMIM - HGNC]
  • M6PR:mannose-6-phosphate receptor, cation dependent [Gene - OMIM - HGNC]
  • MGP:matrix Gla protein [Gene - OMIM - HGNC]
  • MMP17:matrix metallopeptidase 17 [Gene - OMIM - HGNC]
  • MMP19:matrix metallopeptidase 19 [Gene - OMIM - HGNC]
  • MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
  • MED21:mediator complex subunit 21 [Gene - OMIM - HGNC]
  • MARCHF9:membrane associated ring-CH-type finger 9 [Gene - OMIM - HGNC]
  • MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
  • MSRB3:methionine sulfoxide reductase B3 [Gene - OMIM - HGNC]
  • METAP2:methionyl aminopeptidase 2 [Gene - OMIM - HGNC]
  • MARS1:methionyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • MBD6:methyl-CpG binding domain protein 6 [Gene - OMIM - HGNC]
  • METTL1:methyltransferase 1, tRNA methylguanosine [Gene - OMIM - HGNC]
  • METTL25:methyltransferase like 25 [Gene - HGNC]
  • MVK:mevalonate kinase [Gene - OMIM - HGNC]
  • MIR141:microRNA 141 [Gene - OMIM - HGNC]
  • MIR148B:microRNA 148b [Gene - OMIM - HGNC]
  • MIR196A2:microRNA 196a-2 [Gene - OMIM - HGNC]
  • MIR200C:microRNA 200c [Gene - OMIM - HGNC]
  • MIR26A2:microRNA 26a-2 [Gene - OMIM - HGNC]
  • MIR492:microRNA 492 [Gene - OMIM - HGNC]
  • MIR616:microRNA 616 [Gene - OMIM - HGNC]
  • MIRLET7I:microRNA let-7i [Gene - OMIM - HGNC]
  • MFAP5:microfibril associated protein 5 [Gene - OMIM - HGNC]
  • MGST1:microsomal glutathione S-transferase 1 [Gene - OMIM - HGNC]
  • MCRS1:microspherule protein 1 [Gene - OMIM - HGNC]
  • MAP1LC3B2:microtubule associated protein 1 light chain 3 beta 2 [Gene - HGNC]
  • MRPL42:mitochondrial ribosomal protein L42 [Gene - OMIM - HGNC]
  • MRPL51:mitochondrial ribosomal protein L51 [Gene - OMIM - HGNC]
  • MRPS35:mitochondrial ribosomal protein S35 [Gene - OMIM - HGNC]
  • MTERF2:mitochondrial transcription termination factor 2 [Gene - OMIM - HGNC]
  • MTRFR:mitochondrial translation release factor in rescue [Gene - OMIM - HGNC]
  • MAP3K12:mitogen-activated protein kinase kinase kinase 12 [Gene - OMIM - HGNC]
  • MUC19:mucin 19, oligomeric [Gene - OMIM - HGNC]
  • MUC8:mucin 8 [Gene - OMIM - HGNC]
  • MUCL1:mucin like 1 [Gene - OMIM - HGNC]
  • MSI1:musashi RNA binding protein 1 [Gene - OMIM - HGNC]
  • MYRFL:myelin regulatory factor like [Gene - HGNC]
  • MLF2:myeloid leukemia factor 2 [Gene - OMIM - HGNC]
  • MYF5:myogenic factor 5 [Gene - OMIM - HGNC]
  • MYF6:myogenic factor 6 [Gene - OMIM - HGNC]
  • MYO1A:myosin IA [Gene - OMIM - HGNC]
  • MYO1H:myosin IH [Gene - OMIM - HGNC]
  • MYBPC1:myosin binding protein C1 [Gene - OMIM - HGNC]
  • MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
  • MYL6:myosin light chain 6 [Gene - OMIM - HGNC]
  • MYL6B:myosin light chain 6B [Gene - OMIM - HGNC]
  • NACA:nascent polypeptide associated complex subunit alpha [Gene - OMIM - HGNC]
  • NTN4:netrin 4 [Gene - OMIM - HGNC]
  • NELL2:neural EGFL like 2 [Gene - OMIM - HGNC]
  • NXPH4:neurexophilin 4 [Gene - OMIM - HGNC]
  • NAV3:neuron navigator 3 [Gene - OMIM - HGNC]
  • NEUROD4:neuronal differentiation 4 [Gene - OMIM - HGNC]
  • NPFF:neuropeptide FF-amide peptide precursor [Gene - OMIM - HGNC]
  • NTS:neurotensin [Gene - OMIM - HGNC]
  • NTF3:neurotrophin 3 [Gene - OMIM - HGNC]
  • NINJ2:ninjurin 2 [Gene - OMIM - HGNC]
  • NOS1:nitric oxide synthase 1 [Gene - OMIM - HGNC]
  • NCAPD2:non-SMC condensin I complex subunit D2 [Gene - OMIM - HGNC]
  • NEMP1:nuclear envelope integral membrane protein 1 [Gene - OMIM - HGNC]
  • NFE2:nuclear factor, erythroid 2 [Gene - OMIM - HGNC]
  • NCOR2:nuclear receptor corepressor 2 [Gene - OMIM - HGNC]
  • NRIP2:nuclear receptor interacting protein 2 [Gene - HGNC]
  • NR1H4:nuclear receptor subfamily 1 group H member 4 [Gene - OMIM - HGNC]
  • NR2C1:nuclear receptor subfamily 2 group C member 1 [Gene - OMIM - HGNC]
  • NR4A1:nuclear receptor subfamily 4 group A member 1 [Gene - OMIM - HGNC]
  • NFYB:nuclear transcription factor Y subunit beta [Gene - OMIM - HGNC]
  • NABP2:nucleic acid binding protein 2 [Gene - OMIM - HGNC]
  • NOC4L:nucleolar complex associated 4 homolog [Gene - OMIM - HGNC]
  • NUP107:nucleoporin 107 [Gene - OMIM - HGNC]
  • NUP37:nucleoporin 37 [Gene - OMIM - HGNC]
  • NAP1L1:nucleosome assembly protein 1 like 1 [Gene - OMIM - HGNC]
  • NUDT4:nudix hydrolase 4 [Gene - OMIM - HGNC]
  • OR10A7:olfactory receptor family 10 subfamily A member 7 [Gene - HGNC]
  • OR10AD1:olfactory receptor family 10 subfamily AD member 1 [Gene - HGNC]
  • OR10P1:olfactory receptor family 10 subfamily P member 1 [Gene - HGNC]
  • OR2AP1:olfactory receptor family 2 subfamily AP member 1 [Gene - HGNC]
  • OR6C1:olfactory receptor family 6 subfamily C member 1 [Gene - HGNC]
  • OR6C2:olfactory receptor family 6 subfamily C member 2 [Gene - HGNC]
  • OR6C3:olfactory receptor family 6 subfamily C member 3 [Gene - HGNC]
  • OR6C4:olfactory receptor family 6 subfamily C member 4 [Gene - HGNC]
  • OR6C65:olfactory receptor family 6 subfamily C member 65 [Gene - HGNC]
  • OR6C68:olfactory receptor family 6 subfamily C member 68 [Gene - HGNC]
  • OR6C6:olfactory receptor family 6 subfamily C member 6 [Gene - HGNC]
  • OR6C70:olfactory receptor family 6 subfamily C member 70 [Gene - HGNC]
  • OR6C74:olfactory receptor family 6 subfamily C member 74 [Gene - HGNC]
  • OR6C75:olfactory receptor family 6 subfamily C member 75 [Gene - HGNC]
  • OR6C76:olfactory receptor family 6 subfamily C member 76 [Gene - HGNC]
  • OR8S1:olfactory receptor family 8 subfamily S member 1 [Gene - HGNC]
  • OR9K2:olfactory receptor family 9 subfamily K member 2 [Gene - HGNC]
  • OTOGL:otogelin like [Gene - OMIM - HGNC]
  • OVCH1:ovochymase 1 [Gene - HGNC]
  • OLR1:oxidized low density lipoprotein receptor 1 [Gene - OMIM - HGNC]
  • OSBPL8:oxysterol binding protein like 8 [Gene - OMIM - HGNC]
  • PTMS:parathymosin [Gene - OMIM - HGNC]
  • PTHLH:parathyroid hormone like hormone [Gene - OMIM - HGNC]
  • PXN:paxillin [Gene - OMIM - HGNC]
  • PRPH:peripherin [Gene - OMIM - HGNC]
  • PPHLN1:periphilin 1 [Gene - OMIM - HGNC]
  • PEX5:peroxisomal biogenesis factor 5 [Gene - OMIM - HGNC]
  • PXMP2:peroxisomal membrane protein 2 [Gene - OMIM - HGNC]
  • PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
  • PEBP1:phosphatidylethanolamine binding protein 1 [Gene - OMIM - HGNC]
  • PITPNM2:phosphatidylinositol transfer protein membrane associated 2 [Gene - OMIM - HGNC]
  • PIK3C2G:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma [Gene - OMIM - HGNC]
  • PIP4K2C:phosphatidylinositol-5-phosphate 4-kinase type 2 gamma [Gene - OMIM - HGNC]
  • PDE1B:phosphodiesterase 1B [Gene - OMIM - HGNC]
  • PDE3A:phosphodiesterase 3A [Gene - OMIM - HGNC]
  • PDE6H:phosphodiesterase 6H [Gene - OMIM - HGNC]
  • PFKM:phosphofructokinase, muscle [Gene - OMIM - HGNC]
  • PLA2G1B:phospholipase A2 group IB [Gene - OMIM - HGNC]
  • PLBD1:phospholipase B domain containing 1 [Gene - OMIM - HGNC]
  • PLBD2:phospholipase B domain containing 2 [Gene - OMIM - HGNC]
  • PLCZ1:phospholipase C zeta 1 [Gene - OMIM - HGNC]
  • PIWIL1:piwi like RNA-mediated gene silencing 1 [Gene - OMIM - HGNC]
  • PKP2:plakophilin 2 [Gene - OMIM - HGNC]
  • PLEKHG6:pleckstrin homology and RhoGEF domain containing G6 [Gene - OMIM - HGNC]
  • PLEKHG7:pleckstrin homology and RhoGEF domain containing G7 [Gene - HGNC]
  • PLEKHA5:pleckstrin homology domain containing A5 [Gene - OMIM - HGNC]
  • PHLDA1:pleckstrin homology like domain family A member 1 [Gene - OMIM - HGNC]
  • PLXNC1:plexin C1 [Gene - OMIM - HGNC]
  • PAN2:poly(A) specific ribonuclease subunit PAN2 [Gene - OMIM - HGNC]
  • PARP11:poly(ADP-ribose) polymerase family member 11 [Gene - OMIM - HGNC]
  • PCBP2:poly(rC) binding protein 2 [Gene - OMIM - HGNC]
  • PHC1:polyhomeotic homolog 1 [Gene - OMIM - HGNC]
  • GALNT4:polypeptide N-acetylgalactosaminyltransferase 4 [Gene - OMIM - HGNC]
  • GALNT6:polypeptide N-acetylgalactosaminyltransferase 6 [Gene - OMIM - HGNC]
  • GALNT8:polypeptide N-acetylgalactosaminyltransferase 8 [Gene - OMIM - HGNC]
  • KCNMB4:potassium calcium-activated channel subfamily M regulatory beta subunit 4 [Gene - OMIM - HGNC]
  • KCTD10:potassium channel tetramerization domain containing 10 [Gene - OMIM - HGNC]
  • KCNJ8:potassium inwardly rectifying channel subfamily J member 8 [Gene - OMIM - HGNC]
  • KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]
  • KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
  • KCNA6:potassium voltage-gated channel subfamily A member 6 [Gene - OMIM - HGNC]
  • KCNC2:potassium voltage-gated channel subfamily C member 2 [Gene - OMIM - HGNC]
  • KCNH3:potassium voltage-gated channel subfamily H member 3 [Gene - OMIM - HGNC]
  • PRPF40B:pre-mRNA processing factor 40 homolog B [Gene - HGNC]
  • PFDN5:prefoldin subunit 5 [Gene - OMIM - HGNC]
  • PMEL:premelanosome protein [Gene - OMIM - HGNC]
  • PRICKLE1:prickle planar cell polarity protein 1 [Gene - OMIM - HGNC]
  • PAWR:pro-apoptotic WT1 regulator [Gene - OMIM - HGNC]
  • PMCH:pro-melanin concentrating hormone [Gene - OMIM - HGNC]
  • PHB2:prohibitin 2 [Gene - OMIM - HGNC]
  • PA2G4:proliferation-associated 2G4 [Gene - OMIM - HGNC]
  • PRR13:proline rich 13 [Gene - OMIM - HGNC]
  • PRR4:proline rich 4 [Gene - OMIM - HGNC]
  • PRB1:proline rich protein BstNI subfamily 1 [Gene - OMIM - HGNC]
  • PRB2:proline rich protein BstNI subfamily 2 [Gene - OMIM - HGNC]
  • PRB3:proline rich protein BstNI subfamily 3 [Gene - OMIM - HGNC]
  • PRB4:proline rich protein BstNI subfamily 4 [Gene - OMIM - HGNC]
  • PRH1:proline rich protein HaeIII subfamily 1 [Gene - OMIM - HGNC]
  • PRH2:proline rich protein HaeIII subfamily 2 [Gene - OMIM - HGNC]
  • P3H3:prolyl 3-hydroxylase 3 [Gene - OMIM - HGNC]
  • PTGES3:prostaglandin E synthase 3 [Gene - OMIM - HGNC]
  • PSMD9:proteasome 26S subunit, non-ATPase 9 [Gene - OMIM - HGNC]
  • PRMT8:protein arginine methyltransferase 8 [Gene - OMIM - HGNC]
  • PRKAB1:protein kinase AMP-activated non-catalytic subunit beta 1 [Gene - OMIM - HGNC]
  • PRKAG1:protein kinase AMP-activated non-catalytic subunit gamma 1 [Gene - OMIM - HGNC]
  • PPP1CC:protein phosphatase 1 catalytic subunit gamma [Gene - OMIM - HGNC]
  • PPP1R1A:protein phosphatase 1 regulatory inhibitor subunit 1A [Gene - OMIM - HGNC]
  • PPP1R12A:protein phosphatase 1 regulatory subunit 12A [Gene - OMIM - HGNC]
  • PPTC7:protein phosphatase targeting COQ7 [Gene - OMIM - HGNC]
  • PPM1H:protein phosphatase, Mg2+/Mn2+ dependent 1H [Gene - OMIM - HGNC]
  • PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]
  • PTPN6:protein tyrosine phosphatase non-receptor type 6 [Gene - OMIM - HGNC]
  • PTPRB:protein tyrosine phosphatase receptor type B [Gene - OMIM - HGNC]
  • PTPRO:protein tyrosine phosphatase receptor type O [Gene - OMIM - HGNC]
  • PTPRQ:protein tyrosine phosphatase receptor type Q [Gene - OMIM - HGNC]
  • PTPRR:protein tyrosine phosphatase receptor type R [Gene - OMIM - HGNC]
  • PUS1:pseudouridine synthase 1 [Gene - OMIM - HGNC]
  • PUS7L:pseudouridine synthase 7 like [Gene - HGNC]
  • P2RX2:purinergic receptor P2X 2 [Gene - OMIM - HGNC]
  • P2RX4:purinergic receptor P2X 4 [Gene - OMIM - HGNC]
  • P2RX7:purinergic receptor P2X 7 [Gene - OMIM - HGNC]
  • PYROXD1:pyridine nucleotide-disulphide oxidoreductase domain 1 [Gene - OMIM - HGNC]
  • RPH3A:rabphilin 3A [Gene - OMIM - HGNC]
  • RHOF:ras homolog family member F, filopodia associated [Gene - OMIM - HGNC]
  • RFLNA:refilin A [Gene - OMIM - HGNC]
  • REDIC1:regulator of DNA class I crossover intermediates 1 [Gene - OMIM - HGNC]
  • RFX4:regulatory factor X4 [Gene - OMIM - HGNC]
  • RFC5:replication factor C subunit 5 [Gene - OMIM - HGNC]
  • RARG:retinoic acid receptor gamma [Gene - OMIM - HGNC]
  • RBP5:retinol binding protein 5 [Gene - OMIM - HGNC]
  • RDH16:retinol dehydrogenase 16 [Gene - OMIM - HGNC]
  • RDH5:retinol dehydrogenase 5 [Gene - OMIM - HGNC]
  • RESF1:retroelement silencing factor 1 [Gene - OMIM - HGNC]
  • RMST:rhabdomyosarcoma 2 associated transcript [Gene - OMIM - HGNC]
  • RXYLT1:ribitol xylosyltransferase 1 [Gene - OMIM - HGNC]
  • RIMKLB:ribosomal modification protein rimK like family member B [Gene - OMIM - HGNC]
  • RPL41:ribosomal protein L41 [Gene - OMIM - HGNC]
  • RPL6:ribosomal protein L6 [Gene - OMIM - HGNC]
  • RPS26:ribosomal protein S26 [Gene - OMIM - HGNC]
  • RPLP0:ribosomal protein lateral stalk subunit P0 [Gene - OMIM - HGNC]
  • RNF10:ring finger protein 10 [Gene - OMIM - HGNC]
  • RNF34:ring finger protein 34 [Gene - OMIM - HGNC]
  • RNF41:ring finger protein 41 [Gene - OMIM - HGNC]
  • RNFT2:ring finger protein, transmembrane 2 [Gene - OMIM - HGNC]
  • SSPN:sarcospan [Gene - OMIM - HGNC]
  • SCARB1:scavenger receptor class B member 1 [Gene - OMIM - HGNC]
  • SELPLG:selectin P ligand [Gene - OMIM - HGNC]
  • SRSF9:serine and arginine rich splicing factor 9 [Gene - OMIM - HGNC]
  • SDSL:serine dehydratase like [Gene - HGNC]
  • SDS:serine dehydratase [Gene - OMIM - HGNC]
  • SHMT2:serine hydroxymethyltransferase 2 [Gene - OMIM - HGNC]
  • SRRM4:serine/arginine repetitive matrix 4 [Gene - OMIM - HGNC]
  • STK38L:serine/threonine kinase 38 like [Gene - OMIM - HGNC]
  • STRAP:serine/threonine kinase receptor associated protein [Gene - OMIM - HGNC]
  • STYK1:serine/threonine/tyrosine kinase 1 [Gene - OMIM - HGNC]
  • SDR9C7:short chain dehydrogenase/reductase family 9C member 7 [Gene - OMIM - HGNC]
  • SPPL3:signal peptide peptidase like 3 [Gene - OMIM - HGNC]
  • STAT2:signal transducer and activator of transcription 2 [Gene - OMIM - HGNC]
  • STAT6:signal transducer and activator of transcription 6 [Gene - OMIM - HGNC]
  • SMCO2:single-pass membrane protein with coiled-coil domains 2 [Gene - HGNC]
  • SMCO3:single-pass membrane protein with coiled-coil domains 3 [Gene - HGNC]
  • SMUG1:single-strand-selective monofunctional uracil-DNA glycosylase 1 [Gene - OMIM - HGNC]
  • SIRT4:sirtuin 4 [Gene - OMIM - HGNC]
  • SSH1:slingshot protein phosphatase 1 [Gene - OMIM - HGNC]
  • SMAGP:small cell adhesion glycoprotein [Gene - HGNC]
  • SNRNP35:small nuclear ribonucleoprotein U11/U12 subunit 35 [Gene - OMIM - HGNC]
  • SNRPF:small nuclear ribonucleoprotein polypeptide F [Gene - OMIM - HGNC]
  • SCNN1A:sodium channel epithelial 1 subunit alpha [Gene - OMIM - HGNC]
  • SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
  • SLC11A2:solute carrier family 11 member 2 [Gene - OMIM - HGNC]
  • SLC15A4:solute carrier family 15 member 4 [Gene - OMIM - HGNC]
  • SLC15A5:solute carrier family 15 member 5 [Gene - OMIM - HGNC]
  • SLC16A7:solute carrier family 16 member 7 [Gene - OMIM - HGNC]
  • SLC17A8:solute carrier family 17 member 8 [Gene - OMIM - HGNC]
  • SLC2A13:solute carrier family 2 member 13 [Gene - OMIM - HGNC]
  • SLC2A14:solute carrier family 2 member 14 [Gene - OMIM - HGNC]
  • SLC2A3:solute carrier family 2 member 3 [Gene - OMIM - HGNC]
  • SLC25A3:solute carrier family 25 member 3 [Gene - OMIM - HGNC]
  • SLC35E3:solute carrier family 35 member E3 [Gene - OMIM - HGNC]
  • SLC38A1:solute carrier family 38 member 1 [Gene - OMIM - HGNC]
  • SLC38A2:solute carrier family 38 member 2 [Gene - OMIM - HGNC]
  • SLC38A4:solute carrier family 38 member 4 [Gene - OMIM - HGNC]
  • SLC39A5:solute carrier family 39 member 5 [Gene - OMIM - HGNC]
  • SLC4A8:solute carrier family 4 member 8 [Gene - OMIM - HGNC]
  • SLC41A2:solute carrier family 41 member 2 [Gene - OMIM - HGNC]
  • SLC48A1:solute carrier family 48 member 1 [Gene - OMIM - HGNC]
  • SLC5A8:solute carrier family 5 member 8 [Gene - OMIM - HGNC]
  • SLC6A12:solute carrier family 6 member 12 [Gene - OMIM - HGNC]
  • SLC6A13:solute carrier family 6 member 13 [Gene - OMIM - HGNC]
  • SLC6A15:solute carrier family 6 member 15 [Gene - OMIM - HGNC]
  • SLC8B1:solute carrier family 8 member B1 [Gene - OMIM - HGNC]
  • SLCO1A2:solute carrier organic anion transporter family member 1A2 [Gene - OMIM - HGNC]
  • SLCO1B1:solute carrier organic anion transporter family member 1B1 [Gene - OMIM - HGNC]
  • SLCO1B3:solute carrier organic anion transporter family member 1B3 [Gene - OMIM - HGNC]
  • SLCO1B7:solute carrier organic anion transporter family member 1B7 (putative) [Gene - HGNC]
  • SLCO1C1:solute carrier organic anion transporter family member 1C1 [Gene - OMIM - HGNC]
  • SPATS2:spermatogenesis associated serine rich 2 [Gene - OMIM - HGNC]
  • SPX:spexin hormone [Gene - OMIM - HGNC]
  • SPSB2:splA/ryanodine receptor domain and SOCS box containing 2 [Gene - OMIM - HGNC]
  • SART3:spliceosome associated factor 3, U4/U6 recycling protein [Gene - OMIM - HGNC]
  • SFSWAP:splicing factor SWAP [Gene - OMIM - HGNC]
  • STAB2:stabilin 2 [Gene - OMIM - HGNC]
  • SOAT2:sterol O-acyltransferase 2 [Gene - OMIM - HGNC]
  • SBNO1:strawberry notch homolog 1 [Gene - OMIM - HGNC]
  • SUOX:sulfite oxidase [Gene - OMIM - HGNC]
  • SOCS2:suppressor of cytokine signaling 2 [Gene - OMIM - HGNC]
  • SYCP3:synaptonemal complex protein 3 [Gene - OMIM - HGNC]
  • SYT10:synaptotagmin 10 [Gene - HGNC]
  • SYT1:synaptotagmin 1 [Gene - OMIM - HGNC]
  • STX2:syntaxin 2 [Gene - OMIM - HGNC]
  • TCP11L2:t-complex 11 like 2 [Gene - OMIM - HGNC]
  • TAC3:tachykinin precursor 3 [Gene - OMIM - HGNC]
  • TAS2R10:taste 2 receptor member 10 [Gene - OMIM - HGNC]
  • TAS2R13:taste 2 receptor member 13 [Gene - OMIM - HGNC]
  • TAS2R14:taste 2 receptor member 14 [Gene - OMIM - HGNC]
  • TAS2R19:taste 2 receptor member 19 [Gene - OMIM - HGNC]
  • TAS2R20:taste 2 receptor member 20 [Gene - OMIM - HGNC]
  • TAS2R30:taste 2 receptor member 30 [Gene - OMIM - HGNC]
  • TAS2R31:taste 2 receptor member 31 [Gene - OMIM - HGNC]
  • TAS2R42:taste 2 receptor member 42 [Gene - OMIM - HGNC]
  • TAS2R43:taste 2 receptor member 43 [Gene - OMIM - HGNC]
  • TAS2R46:taste 2 receptor member 46 [Gene - OMIM - HGNC]
  • TAS2R50:taste 2 receptor member 50 [Gene - OMIM - HGNC]
  • TAS2R7:taste 2 receptor member 7 [Gene - OMIM - HGNC]
  • TAS2R8:taste 2 receptor member 8 [Gene - OMIM - HGNC]
  • TAS2R9:taste 2 receptor member 9 [Gene - OMIM - HGNC]
  • TCTN1:tectonic family member 1 [Gene - OMIM - HGNC]
  • TCTN2:tectonic family member 2 [Gene - OMIM - HGNC]
  • TNS2:tensin 2 [Gene - OMIM - HGNC]
  • TESC:tescalcin [Gene - OMIM - HGNC]
  • TSPAN11:tetraspanin 11 [Gene - HGNC]
  • TSPAN19:tetraspanin 19 [Gene - HGNC]
  • TSPAN31:tetraspanin 31 [Gene - OMIM - HGNC]
  • TSPAN8:tetraspanin 8 [Gene - OMIM - HGNC]
  • TSPAN9:tetraspanin 9 [Gene - OMIM - HGNC]
  • TMT1A:thiol methyltransferase 1A [Gene - OMIM - HGNC]
  • TMT1B:thiol methyltransferase 1B [Gene - HGNC]
  • TXNRD1:thioredoxin reductase 1 [Gene - OMIM - HGNC]
  • TDG:thymine DNA glycosylase [Gene - OMIM - HGNC]
  • TESPA1:thymocyte expressed, positive selection associated 1 [Gene - OMIM - HGNC]
  • TMPO:thymopoietin [Gene - OMIM - HGNC]
  • TRHDE:thyrotropin releasing hormone degrading enzyme [Gene - OMIM - HGNC]
  • TIMELESS:timeless circadian regulator [Gene - OMIM - HGNC]
  • TAMALIN:trafficking regulator and scaffold protein tamalin [Gene - OMIM - HGNC]
  • TFCP2:transcription factor CP2 [Gene - OMIM - HGNC]
  • TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]
  • TM7SF3:transmembrane 7 superfamily member 3 [Gene - OMIM - HGNC]
  • TMBIM4:transmembrane BAX inhibitor motif containing 4 [Gene - OMIM - HGNC]
  • TMBIM6:transmembrane BAX inhibitor motif containing 6 [Gene - OMIM - HGNC]
  • TMTC1:transmembrane O-mannosyltransferase targeting cadherins 1 [Gene - OMIM - HGNC]
  • TMTC2:transmembrane O-mannosyltransferase targeting cadherins 2 [Gene - OMIM - HGNC]
  • TMTC3:transmembrane O-mannosyltransferase targeting cadherins 3 [Gene - OMIM - HGNC]
  • TMCC3:transmembrane and coiled-coil domain family 3 [Gene - OMIM - HGNC]
  • TMED2:transmembrane p24 trafficking protein 2 [Gene - OMIM - HGNC]
  • TMEM106C:transmembrane protein 106C [Gene - HGNC]
  • TMEM116:transmembrane protein 116 [Gene - HGNC]
  • TMEM117:transmembrane protein 117 [Gene - HGNC]
  • TMEM119:transmembrane protein 119 [Gene - OMIM - HGNC]
  • TMEM120B:transmembrane protein 120B [Gene - OMIM - HGNC]
  • TMEM132B:transmembrane protein 132B [Gene - OMIM - HGNC]
  • TMEM132C:transmembrane protein 132C [Gene - HGNC]
  • TMEM132D:transmembrane protein 132D [Gene - OMIM - HGNC]
  • TMEM19:transmembrane protein 19 [Gene - HGNC]
  • TMEM233:transmembrane protein 233 [Gene - OMIM - HGNC]
  • TMEM263:transmembrane protein 263 [Gene - HGNC]
  • TMEM52B:transmembrane protein 52B [Gene - HGNC]
  • TMPRSS12:transmembrane serine protease 12 [Gene - HGNC]
  • TCHP:trichoplein keratin filament binding [Gene - OMIM - HGNC]
  • TPI1:triosephosphate isomerase 1 [Gene - OMIM - HGNC]
  • TROAP:trophinin associated protein [Gene - OMIM - HGNC]
  • TPH2:tryptophan hydroxylase 2 [Gene - OMIM - HGNC]
  • TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]
  • TUBA1B:tubulin alpha 1b [Gene - OMIM - HGNC]
  • TUBA1C:tubulin alpha 1c [Gene - HGNC]
  • TWF1:twinfilin actin binding protein 1 [Gene - OMIM - HGNC]
  • TPCN1:two pore segment channel 1 [Gene - OMIM - HGNC]
  • YARS2:tyrosyl-tRNA synthetase 2 [Gene - OMIM - HGNC]
  • UQCC6:ubiquinol-cytochrome c reductase complex assembly factor 6 [Gene - OMIM - HGNC]
  • UBC:ubiquitin C [Gene - OMIM - HGNC]
  • UBE2N:ubiquitin conjugating enzyme E2 N [Gene - OMIM - HGNC]
  • UBE3B:ubiquitin protein ligase E3B [Gene - OMIM - HGNC]
  • USP15:ubiquitin specific peptidase 15 [Gene - OMIM - HGNC]
  • USP30:ubiquitin specific peptidase 30 [Gene - OMIM - HGNC]
  • USP44:ubiquitin specific peptidase 44 [Gene - OMIM - HGNC]
  • USP5:ubiquitin specific peptidase 5 [Gene - OMIM - HGNC]
  • UNC119B:unc-119 lipid binding chaperone B [Gene - OMIM - HGNC]
  • ULK1:unc-51 like autophagy activating kinase 1 [Gene - OMIM - HGNC]
  • UNG:uracil DNA glycosylase [Gene - OMIM - HGNC]
  • VAMP1:vesicle associated membrane protein 1 [Gene - OMIM - HGNC]
  • VEZT:vezatin, adherens junctions transmembrane protein [Gene - OMIM - HGNC]
  • VDR:vitamin D receptor [Gene - OMIM - HGNC]
  • VWF:von Willebrand factor [Gene - OMIM - HGNC]
  • ZFC3H1:zinc finger C3H1-type containing [Gene - HGNC]
  • ZC3H10:zinc finger CCCH-type containing 10 [Gene - HGNC]
  • ZCRB1:zinc finger CCHC-type and RNA binding motif containing 1 [Gene - OMIM - HGNC]
  • ZCCHC8:zinc finger CCHC-type containing 8 [Gene - OMIM - HGNC]
  • ZDHHC17:zinc finger DHHC-type palmitoyltransferase 17 [Gene - OMIM - HGNC]
  • ZBTB39:zinc finger and BTB domain containing 39 [Gene - OMIM - HGNC]
  • ZNF10:zinc finger protein 10 [Gene - OMIM - HGNC]
  • ZNF140:zinc finger protein 140 [Gene - OMIM - HGNC]
  • ZNF268:zinc finger protein 268 [Gene - OMIM - HGNC]
  • ZNF26:zinc finger protein 26 [Gene - OMIM - HGNC]
  • ZNF384:zinc finger protein 384 [Gene - OMIM - HGNC]
  • ZNF385A:zinc finger protein 385A [Gene - OMIM - HGNC]
  • ZNF605:zinc finger protein 605 [Gene - HGNC]
  • ZNF641:zinc finger protein 641 [Gene - OMIM - HGNC]
  • ZNF664:zinc finger protein 664 [Gene - OMIM - HGNC]
  • ZNF705A:zinc finger protein 705A [Gene - HGNC]
  • ZNF740:zinc finger protein 740 [Gene - HGNC]
  • ZNF84:zinc finger protein 84 [Gene - OMIM - HGNC]
  • ZNF891:zinc finger protein 891 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p13.33-q24.33
Genomic location:
Chr12: 173787 - 133777902 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3
HGVS:
    Links:
    dbVar: nssv13639183; dbVar: nssv13639327; dbVar: nsv2770609
    Observations:
    2

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000584658ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Dec 2, 2014)     		not providedclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing
    humannot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 1, SCV000584658.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    2human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided
    2not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Oct 14, 2023