Source: GENOMICS_ENGLAND

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
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		disease 0.970 definitive 0.833 3 0 2010 2019
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype 0.400 strong 1.000 1 0 2014 2014
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 0 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 0 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 0 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.400 strong 1.000 1 0 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 0 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 0 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease 0.310 strong 1.000 1 0 2014 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.310 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C2675206
Disease: Normal serum phytanic and pristanic acid
Normal serum phytanic and pristanic acid 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C2675205
Disease: Distal muscle atrophy due to neurologic disease
Distal muscle atrophy due to neurologic disease 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		disease 0.300 strong 0 0