DisGeNET - a database of gene-disease associations

rs1555154946, ARID2;LOC105369745

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 shape of the frontal region

CUI:	C4023458
Disease:	Abnormal shape of the frontal region

2

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Anterior pituitary dysgenesis

CUI:	C4023771
Disease:	Anterior pituitary dysgenesis

1

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Anterior pituitary hypoplasia

CUI:	C1859775
Disease:	Anterior pituitary hypoplasia

1

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Anteverted nostril

CUI:	C1840077
Disease:	Anteverted nostril

35

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Blepharophimosis

CUI:	C0005744
Disease:	Blepharophimosis

15

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Brachydactyly

CUI:	C0221357
Disease:	Brachydactyly

43

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

COFFIN-SIRIS SYNDROME 6

CUI:	C4540499
Disease:	COFFIN-SIRIS SYNDROME 6

7

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Delayed speech and language development

CUI:	C0454644
Disease:	Delayed speech and language development

192

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Downward slant of palpebral fissure

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

49

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Global developmental delay

CUI:	C0557874
Disease:	Global developmental delay

553

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Hypermelanotic macule

CUI:	C1842774
Disease:	Hypermelanotic macule

2

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Microretrognathia

CUI:	C1839546
Disease:	Microretrognathia

6

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Narrow palpebral fissure

CUI:	C2675021
Disease:	Narrow palpebral fissure

3

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Short stature

CUI:	C0349588
Disease:	Short stature

292

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Slurred speech

CUI:	C0234518
Disease:	Slurred speech

10

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700

Sparse scalp hair

CUI:	C1857042
Disease:	Sparse scalp hair

7

0.827

0.120

12

45850644

stop gained

C/T

snv

0.700