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: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0013592
Disease: Ectropion
Ectropion 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		disease 0.200 None 1.000 0 0 2007 2020
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0243026
Disease: Sepsis
Sepsis 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.120 None 1.000 0 0 2008 2019
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease 0.180 None 1.000 0 0 2005 2019
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0017086
Disease: Gangrene
Gangrene 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0022568
Disease: Keratitis
Keratitis 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease 0.100 None 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0