DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Osteogenesis imperfecta type IV (disorder) ×

Gene: COL1A1 ×

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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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

collagen type I alpha 1 chain

0.430

0.808

1.00

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

disease

0.970

None

1.000

1989

2018