DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Cleft Palate ×

Gene: PTCH1 ×

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:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0008925
Disease:	Cleft Palate

Cleft Palate

0.400

GeneticVariation

GWASCAT

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

28232668

2017

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0008925
Disease:	Cleft Palate

Cleft Palate

0.400

Biomarker

CTD_human

Contributions of PTCH gene variants to isolated cleft lip and palate.

16405370

2006

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0008925
Disease:	Cleft Palate

Cleft Palate

0.400

Biomarker

HPO