Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		0.300 GermlineCausalMutation ORPHANET Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828

2012
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		0.900 GermlineCausalMutation ORPHANET As seen in HI epidermis, proteins that are normally expressed in late differentiation were highly dysregulated in the ABCA12-ablated OTCC system. 19179616

2009
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GermlineCausalMutation ORPHANET Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. 19179616

2009
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GermlineCausalMutation ORPHANET Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GermlineCausalMutation ORPHANET Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. 22257947

2012
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GermlineCausalMutation ORPHANET ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603

2009
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GermlineCausalMutation ORPHANET Inherited ichthyoses/generalized Mendelian disorders of cornification. 22739337

2013
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 GermlineCausalMutation ORPHANET Surfactant dysfunction. 22018035

2011
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.400 GeneticVariation ORPHANET Lung disease caused by ABCA3 mutations. 27516224

2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		0.400 GeneticVariation ORPHANET Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. 25553246

2014
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.400 GeneticVariation ORPHANET Lung disease caused by ABCA3 mutations. 27516224

2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.320 GeneticVariation ORPHANET Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. 25553246

2014
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		0.300 GeneticVariation ORPHANET Lung disease caused by ABCA3 mutations. 27516224

2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		1.000 GermlineCausalMutation ORPHANET This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease. 20633576

2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GermlineCausalMutation ORPHANET Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. 20633576

2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.400 GermlineCausalMutation ORPHANET Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781

2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.400 GermlineCausalMutation ORPHANET Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 23776498

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.400 GermlineCausalMutation ORPHANET A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans. 10958761

2000
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C1851120
Disease: Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia 		0.600 GermlineCausalMutation ORPHANET Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. 24831815

2014
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.500 GeneticVariation ORPHANET ABCA7 rare variants and Alzheimer disease risk. 27037229

2016
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		0.450 Biomarker ORPHANET Association between ABCB1 (MDR1) gene 3435 C>T polymorphism and colchicine unresponsiveness of FMF patients. 21851199

2011
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 GermlineCausalMutation ORPHANET Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. 15791618

2005
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 GermlineCausalMutation ORPHANET A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GermlineCausalMutation ORPHANET

Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.400 SusceptibilityMutation ORPHANET Our data support the hypothesis of a significant involvement of ABCB4 mutations in the onset of ICP, but also confirm an important role for ABCB11 mutations in increasing the susceptibility to cholestasis of pregnancy. 23022423

2013