DisGeNET - a database of gene-disease associations

SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1, 23347

N. diseases: 80; N. variants: 35

Source: ALL

Results per page

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1135402737

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

29748383

2018

dbSNP:

rs1135402738

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

29748383

2018

dbSNP:

rs1135402739

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

29748383

2018

dbSNP:

rs397514623

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1834671
Disease:

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B

0.800

GeneticVariation

UNIPROT

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

29748383

2018

dbSNP:

rs397518422

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1834671
Disease:

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B

0.800

GeneticVariation

UNIPROT

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

29748383

2018

dbSNP:

rs1057519639

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519640

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519641

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519641

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519642

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519643

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519644

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519645

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519646

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1057519646

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1135402737

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1135402737

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

28067911

2017

dbSNP:

rs1135402737

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

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

28067909

2017

dbSNP:

rs1135402738

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

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

28067909

2017

dbSNP:

rs1135402738

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

28067911

2017

dbSNP:

rs1135402738

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1135402739

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

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

28067909

2017

dbSNP:

rs1135402739

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017

dbSNP:

rs1135402739

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

GeneticVariation

UNIPROT

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

28067911

2017

dbSNP:

rs1135402740

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

CUI:	C1863878
Disease:

Arhinia, choanal atresia, and microphthalmia

0.800

CausalMutation

CLINVAR

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

28067909

2017