Source: ORPHANET

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: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 1.000 None 0.978 1 0 1997 2020
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C1851120
Disease: Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia 		disease 0.600 None 1.000 1 0 2014 2014
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7 		ATP binding cassette subfamily A member 7 0.644 0.577 2.1E-55
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease 0.500 None 1.000 1 0 2011 2016
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1 		ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		phenotype 0.450 None 0.800 1 0 1990 2019
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11 		ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		disease 0.800 None 1.000 2 0 1998 2016
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11 		ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		disease 0.400 None 0.958 1 0 2003 2019
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11 		ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		disease 0.720 None 1.000 0 0 2004 2016
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		disease 0.770 strong 1.000 2 0 1998 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		disease 0.600 None 1.000 1 0 2000 2020
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		disease 0.800 strong 0.947 1 0 2001 2020
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		disease 0.700 None 1.000 2 0 2013 2018
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C1306229
Disease: Dyschromatosis universalis
Dyschromatosis universalis 		disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C2931501
Disease: Microphthalmia associated with colobomatous cyst
Microphthalmia associated with colobomatous cyst 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2 		ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		disease 1.000 strong 1.000 0 0 1996 2020
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease 1.000 None 0.982 1 0 1978 2020
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0264955
Disease: Idiopathic arterial calcification of infancy
Idiopathic arterial calcification of infancy 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		disease 0.580 None 1.000 1 0 2011 2020
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		disease 0.550 None 1.000 3 0 2000 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease 0.800 strong 1.000 3 0 2006 2018