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: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0431447
Disease: Synophrys
Synophrys 		disease 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0019572
Disease: Hirsutism
Hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		disease 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.100 None 0 0