DisGeNET - a database of gene-disease associations

ERGIC1, endoplasmic reticulum-golgi intermediate compartment 1, 57222

N. diseases: 37; N. variants: 5

Disease: Arthrogryposis ×

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:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.110

GeneticVariation

disease

BEFREE

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

2018

CUI:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.110

Biomarker

disease

HPO