DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Cryptorchidism ×

Gene: SMCHD1 ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C0010417
Disease:	Cryptorchidism

Cryptorchidism

0.100

CausalMutation

CLINVAR

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

2017

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C0010417
Disease:	Cryptorchidism

Cryptorchidism

0.100

Biomarker

HPO