Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
disease 0.970 definitive 0.833 1 11 2010 2019
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
Sensorineural Hearing Loss (disorder)
disease 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract
disease 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease 0.160 None 1.000 1 1 2012 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0086543
Disease: Cataract
Cataract
disease 0.140 None 1.000 0 1 2012 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 2 2012 2012
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C4551520
Disease: Intention tremor
Intention tremor
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
disease 0.100 None 0 1
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment
phenotype 0.100 None 0 1