Entry Search - 105550 614260 - OMIM
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Search: '105550 614260 (Search in: MIM number)'
Results: 2 entries.

1:
* 614260. CHROMOSOME 9 OPEN READING FRAME 72; C9ORF72
Cytogenetic location: 9p21.2, Genomic coordinates (GRCh38): 9:27,546,546-27,573,866
Matching terms: 614260
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
9p21.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 AD 3
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2:
# 105550. FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1
Cytogenetic location: 9p21.2
Matching terms: 105550
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
9p21.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 AD 3 C9orf72 614260
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Amyotrophic lateral sclerosis - PS105400 - 40 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 Amyotrophic lateral sclerosis 10, with or without FTD AD 3 612069 TARDBP 605078
1p36.22 Frontotemporal lobar degeneration, TARDBP-related AD 3 612069 TARDBP 605078
2p13.3 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia AD 3 619133 TIA1 603518
2p13.1 {Amyotrophic lateral sclerosis, susceptibility to} AD, AR 3 105400 DCTN1 601143
2q33.1 Amyotrophic lateral sclerosis 2, juvenile AR 3 205100 ALS2 606352
2q34 Amyotrophic lateral sclerosis 19 AD 3 615515 ERBB4 600543
2q35 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia AD 3 616208 TUBA4A 191110
3p11.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 AD 3 600795 CHMP2B 609512
4q33 {Amyotrophic lateral sclerosis, susceptibility to, 24} AD 3 617892 NEK1 604588
5q31.2 Amyotrophic lateral sclerosis 21 AD 3 606070 MATR3 164015
5q35.3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 AD 3 616437 SQSTM1 601530
6q21 Amyotrophic lateral sclerosis 11 AD 3 612577 FIG4 609390
8q22.3 Amyotrophic lateral sclerosis 28 AD 3 620452 LRP12 618299
9p21.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 AD 3 105550 C9orf72 614260
9p13.3 ?Amyotrophic lateral sclerosis 16, juvenile AR 3 614373 SIGMAR1 601978
9p13.3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 AD 3 613954 VCP 601023
9q22.31 Amyotrophic lateral sclerosis 27, juvenile AD 3 620285 SPTLC1 605712
9q34.13 Amyotrophic lateral sclerosis 4, juvenile AD 3 602433 SETX 608465
10p13 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia AD, AR 3 613435 OPTN 602432
10q22.3 Amyotrophic lateral sclerosis 23 AD 3 617839 ANXA11 602572
12q13.12 {Amyotrophic lateral sclerosis, susceptibility to} AD, AR 3 105400 PRPH 170710
12q13.13 Amyotrophic lateral sclerosis 20 AD 3 615426 HNRNPA1 164017
12q13.3 {Amyotrophic lateral sclerosis, susceptibility to, 25} AD 3 617921 KIF5A 602821
12q14.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 AD 3 616439 TBK1 604834
12q24.12 {Amyotrophic lateral sclerosis, susceptibility to, 13} AD 3 183090 ATXN2 601517
12q24.12 Spinocerebellar ataxia 2 AD 3 183090 ATXN2 601517
14q11.2 Amyotrophic lateral sclerosis 9 3 611895 ANG 105850
15q21.1 Amyotrophic lateral sclerosis 5, juvenile AR 3 602099 SPG11 610844
16p13.3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 AD 3 619141 CCNF 600227
16p11.2 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 3 608030 FUS 137070
16q12.1 ?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 AD 3 619132 CYLD 605018
17p13.2 Amyotrophic lateral sclerosis 18 3 614808 PFN1 176610
18q21 Amyotrophic lateral sclerosis 3 AD 2 606640 ALS3 606640
20p13 Amyotrophic lateral sclerosis 7 2 608031 ALS7 608031
20q13.32 Amyotrophic lateral sclerosis 8 AD 3 608627 VAPBC 605704
21q22.11 Amyotrophic lateral sclerosis 1 AD, AR 3 105400 SOD1 147450
22q11.23 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD 3 615911 CHCHD10 615903
22q12.2 {?Amyotrophic lateral sclerosis, susceptibility to} AD, AR 3 105400 NEFH 162230
Xp11.21 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia XLD 3 300857 UBQLN2 300264
Not Mapped Amyotrophic lateral sclerosis, juvenile, with dementia AR 205200 ALSDC 205200
Frontotemporal dementia and/or amyotrophic lateral sclerosis - PS105550 - 8 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
3p11.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 AD 3 600795 CHMP2B 609512
5q35.3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 AD 3 616437 SQSTM1 601530
9p21.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 AD 3 105550 C9orf72 614260
9p13.3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 AD 3 613954 VCP 601023
12q14.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 AD 3 616439 TBK1 604834
16p13.3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 AD 3 619141 CCNF 600227
16q12.1 ?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 AD 3 619132 CYLD 605018
22q11.23 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD 3 615911 CHCHD10 615903
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ICD+
SNOMEDCT: 1259124000
ORPHA: 275872
DO: 0060213
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Search: 105550 614260 (Search in: MIM number)
Results: 2 entries.

1:
* 614260. CHROMOSOME 9 OPEN READING FRAME 72; C9ORF72
Cytogenetic location: 9p21.2, Genomic coordinates (GRCh38): 9:27,546,546-27,573,866
Matching terms: 614260

2:
# 105550. FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1
Cytogenetic location: 9p21.2
Matching terms: 105550


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 2, 2024