Source: HPO

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: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.110 None 1.000 0 0 2001 2001
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0267812
Disease: Micronodular cirrhosis
Micronodular cirrhosis 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease 0.120 None 1.000 0 0 2013 2014
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease 0.150 None 1.000 0 0 2004 2014
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.130 None 1.000 0 0 2009 2015