DisGeNET - a database of gene-disease associations

Source: CURATED

Variant: rs886040971 ×

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

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0432233
Disease:	Trichorhinophalangeal dysplasia type I

Trichorhinophalangeal dysplasia type I

0.700

1.000

2001

2017

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1860823
Disease:	Trichorhinophalangeal Syndrome, Type III

Trichorhinophalangeal Syndrome, Type III

0.700

1.000

2001

2017

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1837260
Disease:	Prominent forehead

Prominent forehead

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0004352
Disease:	Autistic Disorder

Autistic Disorder

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0456070
Disease:	Growth delay

Growth delay

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0423823
Disease:	Thin nails

Thin nails

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1834055
Disease:	Underdeveloped nasal alae

Underdeveloped nasal alae

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0086437
Disease:	Joint laxity

Joint laxity

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0423867
Disease:	Fine hair

Fine hair

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0575802
Disease:	Small hand

Small hand

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1865037
Disease:	Cone-shaped epiphysis

Cone-shaped epiphysis

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0239676
Disease:	High forehead

High forehead

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1844891
Disease:	Ulnar deviation of the 2nd finger

Ulnar deviation of the 2nd finger

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1849089
Disease:	Broad forehead

Broad forehead

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1861388
Disease:	Short 5th metacarpal

Short 5th metacarpal

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1865017
Disease:	Thin upper lip vermilion

Thin upper lip vermilion

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1844709
Disease:	Radial deviation of the 2nd finger

Radial deviation of the 2nd finger

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C1858036
Disease:	Periorbital fullness

Periorbital fullness

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0015230
Disease:	Exanthema

Exanthema

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C4021959
Disease:	Round ear

Round ear

0.700

dbSNP:

rs886040971

TRPS1

0.683

0.280

115604339

stop gained

G/A;T

snv

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.700