DisGeNET - a database of gene-disease associations

rs483352822, RIT1

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.

Noonan Syndrome

CUI:	C0028326
Disease:	Noonan Syndrome

187

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

1.000

2013

2016

NOONAN SYNDROME 8

CUI:	C3809233
Disease:	NOONAN SYNDROME 8

12

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

1.000

2013

2016

Abnormal mitral valve morphology

CUI:	C4025759
Disease:	Abnormal mitral valve morphology

2

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Abnormal tricuspid valve morphology

CUI:	C4025753
Disease:	Abnormal tricuspid valve morphology

1

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Abnormality of aortic valve

CUI:	C3164445
Disease:	Abnormality of aortic valve

2

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Blood Coagulation Disorders

CUI:	C0005779
Disease:	Blood Coagulation Disorders

31

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Chylothorax

CUI:	C0008733
Disease:	Chylothorax

2

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Dysmorphic facies

CUI:	C0424503
Disease:	Dysmorphic facies

106

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Hydrops Fetalis

CUI:	C0020305
Disease:	Hydrops Fetalis

14

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Pericardial effusion

CUI:	C0031039
Disease:	Pericardial effusion

10

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Pleural effusion disorder

CUI:	C0032227
Disease:	Pleural effusion disorder

14

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Polyhydramnios

CUI:	C0020224
Disease:	Polyhydramnios

28

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Premature Birth

CUI:	C0151526
Disease:	Premature Birth

50

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Thickened nuchal skin fold

CUI:	C1836940
Disease:	Thickened nuchal skin fold

4

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Ventricular Septal Defects

CUI:	C0018818
Disease:	Ventricular Septal Defects

87

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700

Weight less than 3rd percentile

CUI:	C1844806
Disease:	Weight less than 3rd percentile

27

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

0.700