DisGeNET - a database of gene-disease associations

rs357565, PTCH1

N. diseases: 1

Disease: Hirschsprung Disease ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Hirschsprung Disease

CUI:	C0019569
Disease:	Hirschsprung Disease

0.010

GeneticVariation

BEFREE

Both the C allele of rs357565 and the A allele of rs2236405 served as risk factors for HSCR.</span>

2013