Entry Search - 183090 601517 - OMIM
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Search: '183090 601517 (Search in: MIM number)'
Results: 2 entries.

1:
* 601517. ATAXIN 2; ATXN2
Cytogenetic location: 12q24.12, Genomic coordinates (GRCh38): 12:111,452,214-111,599,673
Matching terms: 601517
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
12q24.12 {Amyotrophic lateral sclerosis, susceptibility to, 13} 183090 AD 3
{Parkinson disease, late-onset, susceptibility to} 168600 AD, Mu 3
Spinocerebellar ataxia 2 183090 AD 3
ICD+
SNOMEDCT: 715751004

2:
# 183090. SPINOCEREBELLAR ATAXIA 2; SCA2
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED
Cytogenetic locations: 12q24.12,
Matching terms: 183090
 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
12q24.12 Spinocerebellar ataxia 2 183090 AD 3 ATXN2 601517
12q24.12 {Amyotrophic lateral sclerosis, susceptibility to, 13} 183090 AD 3 ATXN2 601517
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
Spinocerebellar ataxia - PS164400 - 49 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1p36.33 Spinocerebellar ataxia 21 AD 3 607454 TMEM240 616101
1p35.2 Spinocerebellar ataxia 47 AD 3 617931 PUM1 607204
1p32.2-p32.1 Spinocerebellar ataxia 37 AD 3 615945 DAB1 603448
1p13.2 Spinocerebellar ataxia 19 AD 3 607346 KCND3 605411
2p16.1 Spinocerebellar ataxia 25 AD 3 608703 PNPT1 610316
3p26.1 Spinocerebellar ataxia 15 AD 3 606658 ITPR1 147265
3p26.1 Spinocerebellar ataxia 29, congenital nonprogressive AD 3 117360 ITPR1 147265
3p14.1 Spinocerebellar ataxia 7 AD 3 164500 ATXN7 607640
3q25.2 ?Spinocerebellar ataxia 43 AD 3 617018 MME 120520
4q27 ?Spinocerebellar ataxia 41 AD 3 616410 TRPC3 602345
4q34.3-q35.1 ?Spinocerebellar ataxia 30 AD 2 613371 SCA30 613371
5q32 Spinocerebellar ataxia 12 AD 3 604326 PPP2R2B 604325
5q33.1 Spinocerebellar ataxia 45 AD 3 617769 FAT2 604269
6p22.3 Spinocerebellar ataxia 1 AD 3 164400 ATXN1 601556
6p12.1 Spinocerebellar ataxia 38 AD 3 615957 ELOVL5 611805
6q14.1 Spinocerebellar ataxia 34 AD 3 133190 ELOVL4 605512
6q24.3 Spinocerebellar ataxia 44 AD 3 617691 GRM1 604473
6q27 Spinocerebellar ataxia 17 AD 3 607136 TBP 600075
7q21.2 ?Spinocerebellar ataxia 49 AD 3 619806 SAMD9L 611170
7q22-q32 Spinocerebellar ataxia 18 AD 2 607458 SCA18 607458
7q32-q33 Spinocerebellar ataxia 32 AD 2 613909 SCA32 613909
11q12 Spinocerebellar ataxia 20 AD 4 608687 SCA20 608687
11q13.2 Spinocerebellar ataxia 5 AD 3 600224 SPTBN2 604985
12q24.12 Spinocerebellar ataxia 2 AD 3 183090 ATXN2 601517
12q24.12 {Amyotrophic lateral sclerosis, susceptibility to, 13} AD 3 183090 ATXN2 601517
13q21 Spinocerebellar ataxia 8 AD 3 608768 ATXN8 613289
13q21.33 Spinocerebellar ataxia 8 AD 3 608768 ATXN8OS 603680
13q33.1 Spinocerebellar ataxia 27A AD 3 193003 FGF14 601515
13q33.1 Spinocerebellar ataxia 27B, late-onset AD 3 620174 FGF14 601515
14q32.11-q32.12 ?Spinocerebellar ataxia 40 AD 3 616053 CCDC88C 611204
14q32.12 Machado-Joseph disease AD 3 109150 ATXN3 607047
15q15.2 Spinocerebellar ataxia 11 AD 3 604432 TTBK2 611695
16p13.3 Spinocerebellar ataxia 48 AD 3 618093 STUB1 607207
16q21 Spinocerebellar ataxia 31 AD 3 117210 BEAN1 612051
16q22.1 Spinocerebellar ataxia 51 AD 3 620947 THAP11 609119
16q22.2-q22.3 Spinocerebellar ataxia 4 AD 3 600223 ZFHX3 104155
17q21.33 Spinocerebellar ataxia 42 AD 3 616795 CACNA1G 604065
17q25.3 Spinocerebellar ataxia 50 AD 3 620158 NPTX1 602367
18p11.21 Spinocerebellar ataxia 28 AD 3 610246 AFG3L2 604581
19p13.3 ?Spinocerebellar ataxia 26 AD 3 609306 EEF2 130610
19p13.13 Spinocerebellar ataxia 6 AD 3 183086 CACNA1A 601011
19q13.2 ?Spinocerebellar ataxia 46 AD 3 617770 PLD3 615698
19q13.33 Spinocerebellar ataxia 13 AD 3 605259 KCNC3 176264
19q13.42 Spinocerebellar ataxia 14 AD 3 605361 PRKCG 176980
20p13 Spinocerebellar ataxia 23 AD 3 610245 PDYN 131340
20p13 Spinocerebellar ataxia 35 AD 3 613908 TGM6 613900
20p13 Spinocerebellar ataxia 36 AD 3 614153 NOP56 614154
22q13.31 Spinocerebellar ataxia 10 AD 3 603516 ATXN10 611150
Not Mapped Spinocerebellar ataxia 9 612876 SCA9 612876
ICD+
SNOMEDCT: 715751004
ORPHA: 98756
DO: 0050955
Search: 183090 601517 (Search in: MIM number)
Results: 2 entries.

1:
* 601517. ATAXIN 2; ATXN2
Cytogenetic location: 12q24.12, Genomic coordinates (GRCh38): 12:111,452,214-111,599,673
Matching terms: 601517

2:
# 183090. SPINOCEREBELLAR ATAXIA 2; SCA2
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED
Cytogenetic locations: 12q24.12,
Matching terms: 183090