DisGeNET - a database of gene-disease associations

GCM2, glial cells missing transcription factor 2, 9247

N. diseases: 54; N. variants: 12

Disease: HYPERPARATHYROIDISM 4 ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4479229
Disease:	HYPERPARATHYROIDISM 4

HYPERPARATHYROIDISM 4

0.600

Biomarker

disease

GENOMICS_ENGLAND

Abstracts of the 2017 International Workshop on Musculoskeletal and Neuronal Interactions.

29199197

2017

CUI:	C4479229
Disease:	HYPERPARATHYROIDISM 4

HYPERPARATHYROIDISM 4

0.600

GeneticVariation

disease

UNIPROT

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

27745835

2016

CUI:	C4479229
Disease:	HYPERPARATHYROIDISM 4

HYPERPARATHYROIDISM 4

0.600

Biomarker

disease

CTD_human