DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Prominent nasal tip ×

Results per page

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:	1280
Gene Symbol:	COL2A1

COL2A1

collagen type II alpha 1 chain

0.444

0.846

1.00

CUI:	C1856118
Disease:	Prominent nasal tip

Prominent nasal tip

phenotype

0.100

None

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

AT-rich interaction domain 1B

0.503

0.846

1.00

CUI:	C1856118
Disease:	Prominent nasal tip

Prominent nasal tip

phenotype

0.100

None

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

transcriptional repressor GATA binding 1

0.537

0.769

1.00

CUI:	C1856118
Disease:	Prominent nasal tip

Prominent nasal tip

phenotype

0.100

None

Entrez Id:	9427
Gene Symbol:	ECEL1

ECEL1

endothelin converting enzyme like 1

0.638

0.308

4.8E-13

CUI:	C1856118
Disease:	Prominent nasal tip

Prominent nasal tip

phenotype

0.100

None