DisGeNET - a database of gene-disease associations

rs1057518972, TRPS1

N. diseases: 7

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.

Trichorhinophalangeal Syndrome, Type III

CUI:	C1860823
Disease:	Trichorhinophalangeal Syndrome, Type III

14

0.827

0.200

8

115418359

missense variant

C/T

snv

0.800

1.000

2008

2017

Trichorhinophalangeal dysplasia type I

CUI:	C0432233
Disease:	Trichorhinophalangeal dysplasia type I

43

0.827

0.200

8

115418359

missense variant

C/T

snv

0.700

1.000

2008

2017

Alopecia Areata

CUI:	C0002171
Disease:	Alopecia Areata

54

0.827

0.200

8

115418359

missense variant

C/T

snv

0.700

Brachydactyly

CUI:	C0221357
Disease:	Brachydactyly

43

0.827

0.200

8

115418359

missense variant

C/T

snv

0.700

Pear-shaped nose

CUI:	C1853482
Disease:	Pear-shaped nose

2

0.827

0.200

8

115418359

missense variant

C/T

snv

0.700

Proportionate short stature

CUI:	C0878660
Disease:	Proportionate short stature

11

0.827

0.200

8

115418359

missense variant

C/T

snv

0.700

Trichohepatoenteric Syndrome

CUI:	C1857276
Disease:	Trichohepatoenteric Syndrome

28

0.827

0.200

8

115418359

missense variant

C/T

snv

0.010

1.000

2018

2018