DisGeNET - a database of gene-disease associations

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:	C1300257
Disease:	Thanatophoric dysplasia, type 2

Thanatophoric dysplasia, type 2

0.010

Biomarker

disease

BEFREE

In addition, it shows that both wild type and TDII FGFR3 interact with the mannose-specific lectin ERGIC-53.

2008