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: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease 0.600 limited 1.000 0 0 2004 2005
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.420 None 1.000 0 0 2004 2014
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		disease 0.300 None 1.000 0 0 2004 2004
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2019 2019
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 1.000 0 0 2016 2016
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype 0.100 None 0 0