DisGeNET - a database of gene-disease associations

rs886039909, HSPG2

N. diseases: 6

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Blepharophimosis

CUI:	C0005744
Disease:	Blepharophimosis

15

0.882

0.120

1

21864095

splice region variant

C/T

snv

0.700

Flatfoot

CUI:	C0016202
Disease:	Flatfoot

38

0.882

0.120

1

21864095

splice region variant

C/T

snv

0.700

Low set ears

CUI:	C0239234
Disease:	Low set ears

64

0.882

0.120

1

21864095

splice region variant

C/T

snv

0.700

Mask-like facies

CUI:	C0424448
Disease:	Mask-like facies

2

0.882

0.120

1

21864095

splice region variant

C/T

snv

0.700

Metaphyseal widening

CUI:	C1849039
Disease:	Metaphyseal widening

3

0.882

0.120

1

21864095

splice region variant

C/T

snv

0.700

Schwartz-Jampel Syndrome, Type 1

CUI:	C4551479
Disease:	Schwartz-Jampel Syndrome, Type 1

4

0.882

0.120

1

21864095

splice region variant

C/T

snv

0.700