DisGeNET - a database of gene-disease associations

SLC7A14, solute carrier family 7 member 14, 57709

N. diseases: 36; N. variants: 8

Disease: RETINITIS PIGMENTOSA 68 ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3810380
Disease:	RETINITIS PIGMENTOSA 68

RETINITIS PIGMENTOSA 68

0.700

GeneticVariation

disease

UNIPROT

SLC7A14 linked to autosomal recessive retinitis pigmentosa.

24670872

2014

CUI:	C3810380
Disease:	RETINITIS PIGMENTOSA 68

RETINITIS PIGMENTOSA 68

0.700

Biomarker

disease

CTD_human

CUI:	C3810380
Disease:	RETINITIS PIGMENTOSA 68

RETINITIS PIGMENTOSA 68

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C3810380
Disease:	RETINITIS PIGMENTOSA 68

RETINITIS PIGMENTOSA 68

0.700

CausalMutation

disease

CLINVAR