DisGeNET - a database of gene-disease associations

rs1564421528, WAC

N. diseases: 16

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.

Abnormal delivery

CUI:	C0549629
Disease:	Abnormal delivery

37

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Absent speech

CUI:	C1854882
Disease:	Absent speech

72

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Adrenal gland hypofunction

CUI:	C0001623
Disease:	Adrenal gland hypofunction

10

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Broad nasal tip

CUI:	C0426429
Disease:	Broad nasal tip

8

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Congenital Epicanthus

CUI:	C0678230
Disease:	Congenital Epicanthus

30

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Constipation

CUI:	C0009806
Disease:	Constipation

57

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

DESANTO-SHINAWI SYNDROME

CUI:	C4225239
Disease:	DESANTO-SHINAWI SYNDROME

12

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Feeding difficulties

CUI:	C0232466
Disease:	Feeding difficulties

62

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Moderate global developmental delay

CUI:	C2237142
Disease:	Moderate global developmental delay

21

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Nasal bridge wide

CUI:	C1849367
Disease:	Nasal bridge wide

29

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Neonatal hypoglycemia

CUI:	C0158986
Disease:	Neonatal hypoglycemia

13

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Premature Birth

CUI:	C0151526
Disease:	Premature Birth

50

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Secondary Caesarian section

CUI:	C4072904
Disease:	Secondary Caesarian section

13

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Short nose

CUI:	C1854114
Disease:	Short nose

23

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Sleep disturbances

CUI:	C0037317
Disease:	Sleep disturbances

74

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700

Unilateral ptosis

CUI:	C1866806
Disease:	Unilateral ptosis

4

0.882

0.080

10

28614666

stop gained

C/T

snv

0.700