DisGeNET - a database of gene-disease associations

rs1555783467, SLC52A3

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.

Apnea

CUI:	C0003578
Disease:	Apnea

11

0.882

0.120

20

761120

missense variant

C/T

snv

0.700

Brown-Vialetto-Van Laere Syndrome 1

CUI:	C0796274
Disease:	Brown-Vialetto-Van Laere Syndrome 1

29

0.882

0.120

20

761120

missense variant

C/T

snv

0.700

Bulbar palsy

CUI:	C4082299
Disease:	Bulbar palsy

5

0.882

0.120

20

761120

missense variant

C/T

snv

0.700

Motor axonal neuropathy

CUI:	C2749625
Disease:	Motor axonal neuropathy

4

0.882

0.120

20

761120

missense variant

C/T

snv

0.700

Seizures

CUI:	C0036572
Disease:	Seizures

553

0.882

0.120

20

761120

missense variant

C/T

snv

0.700

Sensorineural hearing loss, bilateral

CUI:	C0452138
Disease:	Sensorineural hearing loss, bilateral

30

0.882

0.120

20

761120

missense variant

C/T

snv

0.700