DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Hypomagnesemia 1, Intestinal ×

Variant: rs121912625 ×

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:

rs121912625

TRPM6

CUI:	C1865974
Disease:	Hypomagnesemia 1, Intestinal

Hypomagnesemia 1, Intestinal

0.800

GeneticVariation

UNIPROT

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

23942199

2014

dbSNP:

rs121912625

TRPM6

CUI:	C1865974
Disease:	Hypomagnesemia 1, Intestinal

Hypomagnesemia 1, Intestinal

0.800

GeneticVariation

UNIPROT

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

14976260

2004

dbSNP:

rs121912625

TRPM6

CUI:	C1865974
Disease:	Hypomagnesemia 1, Intestinal

Hypomagnesemia 1, Intestinal

0.800

GeneticVariation

UNIPROT

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

12032568

2002