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: 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