DisGeNET - a database of gene-disease associations

GCM2, glial cells missing transcription factor 2, 9247

N. diseases: 54; N. variants: 12

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:

rs104893959

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

23155703

2012

dbSNP:

rs104893960

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

23155703

2012

dbSNP:

rs104893959

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

20463099

2010

dbSNP:

rs104893959

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

20190276

2010

dbSNP:

rs104893960

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

20463099

2010

dbSNP:

rs104893960

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

20190276

2010

dbSNP:

rs104893959

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

15728199

2005

dbSNP:

rs104893959

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

15863676

2005

dbSNP:

rs104893960

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

15863676

2005

dbSNP:

rs104893960

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

GeneticVariation

UNIPROT

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

15728199

2005

dbSNP:

rs104893959

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893960

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.800

CausalMutation

CLINVAR

dbSNP:

rs142287570

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C4479229
Disease:

HYPERPARATHYROIDISM 4

0.700

GeneticVariation

UNIPROT

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

27745835

2016

dbSNP:

rs1554103179

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.700

CausalMutation

CLINVAR

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

23155703

2012

dbSNP:

rs533942394

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.700

GeneticVariation

UNIPROT

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

23155703

2012

dbSNP:

rs533942394

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.700

GeneticVariation

UNIPROT

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

20463099

2010

dbSNP:

rs533942394

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.700

GeneticVariation

UNIPROT

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

20190276

2010

dbSNP:

rs533942394

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.700

GeneticVariation

UNIPROT

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

15728199

2005

dbSNP:

rs533942394

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.700

GeneticVariation

UNIPROT

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

15863676

2005

dbSNP:

rs1057519581

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C4479229
Disease:

HYPERPARATHYROIDISM 4

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1057519582

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C4479229
Disease:

HYPERPARATHYROIDISM 4

0.700

GeneticVariation

UNIPROT

dbSNP:

rs371918069

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C4479229
Disease:

HYPERPARATHYROIDISM 4

0.700

GeneticVariation

UNIPROT

dbSNP:

rs759190203

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C0020626
Disease:

Hypoparathyroidism

0.700

CausalMutation

CLINVAR

dbSNP:

rs759190203

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs780594439

Entrez Id:	9247
Gene Symbol:	GCM2

GCM2

CUI:	C1832648
Disease:

Hypoparathyroidism familial isolated

0.700

GeneticVariation

UNIPROT