DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Uranostaphyloschisis ×

Gene: LRRC32 ×

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:	2615
Gene Symbol:	LRRC32

LRRC32

CUI:	C2981150
Disease:	Uranostaphyloschisis

Uranostaphyloschisis

0.110

GeneticVariation

BEFREE

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

2019

Entrez Id:	2615
Gene Symbol:	LRRC32

LRRC32

CUI:	C2981150
Disease:	Uranostaphyloschisis

Uranostaphyloschisis

0.110

GeneticVariation

CLINVAR