DisGeNET - a database of gene-disease associations

Source: HPO

Gene: ABCA12 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0079583
Disease:	Ichthyosiform Erythroderma, Congenital

Ichthyosiform Erythroderma, Congenital

disease

0.200

None

1.000

2007

2020

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0020757
Disease:	Ichthyoses

Ichthyoses

disease

0.180

None

1.000

2005

2019

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0870082
Disease:	Hyperkeratosis

Hyperkeratosis

disease

0.120

None

1.000

2008

2019

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0013592
Disease:	Ectropion

Ectropion

disease

0.110

None

1.000

2016

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C4553962
Disease:	Hyperkeratosis, CTCAE

Hyperkeratosis, CTCAE

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1842876
Disease:	Depressed nasal ridge

Depressed nasal ridge

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1837770
Disease:	Sparse hair

Sparse hair

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1565489
Disease:	Renal Insufficiency

Renal Insufficiency

disease

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1384666
Disease:	hearing impairment

hearing impairment

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0853087
Disease:	Nail abnormality

Nail abnormality

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0497552
Disease:	Congenital neurologic anomalies

Congenital neurologic anomalies

group

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0392163
Disease:	Corneal erosion

Corneal erosion

disease

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1844548
Disease:	Hypoplastic finger

Hypoplastic finger

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1853246
Disease:	Eversion of lower lip

Eversion of lower lip

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1856660
Disease:	Abnormality of the helix

Abnormality of the helix

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C4551675
Disease:	Keratoderma, Palmoplantar

Keratoderma, Palmoplantar

disease

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C4025860
Disease:	Hearing abnormality

Hearing abnormality

disease

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C4021998
Disease:	Lack of skin elasticity

Lack of skin elasticity

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C4021956
Disease:	Aplasia/Hypoplasia of the eyebrow

Aplasia/Hypoplasia of the eyebrow

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C4020869
Disease:	Abnormality of abdomen morphology

Abnormality of abdomen morphology

disease

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C3806482
Disease:	Recurrent respiratory infections

Recurrent respiratory infections

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C3550430
Disease:	Eclabion

Eclabion

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C2919142
Disease:	Short Stature, CTCAE

Short Stature, CTCAE

phenotype

0.100

None

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

ATP binding cassette subfamily A member 12

0.610

0.654

2.9E-15

CUI:	C1963094
Disease:	Dry Skin, CTCAE

Dry Skin, CTCAE

phenotype

0.100

None