ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1303044966
rs1303044966
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C4072872
Disease:
obsolete Rod-cone dystrophy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1303044966
rs1303044966
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1303044966
rs1303044966
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0086543
Disease:
Cataract 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1303044966
rs1303044966
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C1842138
Disease:
Progressive hearing impairment 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555810299
rs1555810299
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555811525
rs1555811525
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555813914
rs1555813914
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		AAA 0.700 CausalMutation CLINVAR
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C4072872
Disease:
obsolete Rod-cone dystrophy 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0029124
Disease:
Optic Atrophy 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0151889
Disease:
Hyperreflexia 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0152025
Disease:
Polyneuropathy 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C1847584
Disease:
Distal sensory impairment 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0728829
Disease:
Congenital pes cavus 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0235259
Disease:
Subcapsular cataract 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C1112256
Disease:
Sensorimotor neuropathy 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0028738
Disease:
Nystagmus 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0700078
Disease:
Decreased tendon reflex 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0740279
Disease:
Cerebellar atrophy 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0234162
Disease:
Cerebellar Dysmetria 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C4551520
Disease:
Intention tremor 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0013362
Disease:
Dysarthria 		A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs1568725951
rs1568725951
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0730290
Disease:
Cone Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs2236180
rs2236180
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C1518922
Disease:
peak expiratory flow (procedure) 		T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019