Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 Biomarker CTD_human

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 CausalMutation CLINVAR

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 Biomarker CTD_human The role of ABC transporters in progression and clinical outcome of colorectal cancer. 22294766

2012
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 Biomarker CTD_human The role of ABC transporters in progression and clinical outcome of colorectal cancer. 22294766

2012
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation GWASCAT GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. 31164008

2019
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		0.100 GeneticVariation GWASCAT GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. 31164008

2019
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		0.100 Biomarker HPO

Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression BEFREE The combined expression pattern of ABCA1, ABCA5, and either ABCA8 or ABCA9 was associated with particularly poor outcome (mean overall survival in group with adverse ABCA1, ABCA5 and ABCA9 gene expression = 33.2 months, 95% CI = 26.4 to 40.1; vs 55.3 months in the group with favorable ABCA gene expression, 95% CI = 49.8 to 60.8; P = .001), independently of tumor stage or surgical debulking status. 24957074

2014
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker BEFREE The purpose of this study is to examine whether ABCA5-like transporters may play a role in tumor development by measuring their mRNA levels in human tissues and tumors. 17541169

2007
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 AlteredExpression BEFREE We also investigate in which primary human brain cells ABCA5 is expressed and whether the expression of ABCA5 is altered in PD brain. 23939407

2012