DisGeNET - a database of gene-disease associations

DMBX1, diencephalon/mesencephalon homeobox 1, 127343

N. diseases: 12; N. variants: 1

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:

rs730882203

rs730882203

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C3887873
Disease:

Hearing Loss

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882203

rs730882203

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C0557874
Disease:

Global developmental delay

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882203

rs730882203

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C0026827
Disease:

Muscle hypotonia

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882203

rs730882203

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C0014544
Disease:

Epilepsy

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882203

rs730882203

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C0020490
Disease:

Hyperopia

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882203

rs730882203

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C0038379
Disease:

Strabismus

T

0.700

GeneticVariation

CLINVAR