DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Retinitis Pigmentosa ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.410

Biomarker

BEFREE

Three cases are reported, including the identification of AHI1 as a novel candidate gene for nonsyndromic retinitis pigmentosa.

2015

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.410

CausalMutation

CLINVAR

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.410

GermlineCausalMutation

ORPHANET

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.410

GeneticVariation

CLINVAR

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.410

Biomarker

HPO