DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: ATP1A3 ×

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:

rs1555859157

ATP1A3

1.000

41968833

missense variant

A/G

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1988

2017

dbSNP:

rs1555859593

ATP1A3

1.000

41970483

missense variant

G/T

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

1988

2017

dbSNP:

rs1555859593

ATP1A3

1.000

41970483

missense variant

G/T

snv

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

1.000

1988

2017

dbSNP:

rs1555859593

ATP1A3

1.000

41970483

missense variant

G/T

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1988

2017

dbSNP:

rs200891944

ATP1A3

41981976

missense variant

C/A;T

snv

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

0.700

1.000

1988

2017

dbSNP:

rs797044897

ATP1A3

41984940

missense variant

T/C

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

1988

2017

dbSNP:

rs1057516032

ATP1A3

1.000

41970211

protein altering variant

AGTCT/GA

delins

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.700

1.000

2016

dbSNP:

rs1057516032

ATP1A3

1.000

41970211

protein altering variant

AGTCT/GA

delins

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

1.000

2016

dbSNP:

rs1057516032

ATP1A3

1.000

41970211

protein altering variant

AGTCT/GA

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

1.000

2016

dbSNP:

rs1057516032

ATP1A3

1.000

41970211

protein altering variant

AGTCT/GA

delins

CUI:	C1857287
Disease:	Stroke-like episode

Stroke-like episode

0.700

1.000

2016

dbSNP:

rs1131691940

ATP1A3

1.000

41982096

missense variant

G/A;T

snv

8.0E-06

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.700

dbSNP:

rs534926223

ATP1A3

1.000

41970490

missense variant

G/C;T

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.800

1.000

2012

2016

dbSNP:

rs542652468

ATP1A3

0.882

41986177

missense variant

G/A;T

snv

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs542652468

ATP1A3

0.882

41986177

missense variant

G/A;T

snv

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

dbSNP:

rs542652468

ATP1A3

0.882

41986177

missense variant

G/A;T

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.800

1.000

2012

2016

dbSNP:

rs542652468

ATP1A3

0.882

41986177

missense variant

G/A;T

snv

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs542652468

ATP1A3

0.882

41986177

missense variant

G/A;T

snv

CUI:	C4021808
Disease:	Abnormality of earlobe

Abnormality of earlobe

0.700

dbSNP:

rs542652468

ATP1A3

0.882

41986177

missense variant

G/A;T

snv

CUI:	C0678230
Disease:	Congenital Epicanthus

Congenital Epicanthus

0.700

dbSNP:

rs557939077

ATP1A3

1.000

41970494

missense variant

G/A;T

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.700

dbSNP:

rs606231427

ATP1A3

1.000

41986168

missense variant

T/A

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.800

1.000

2012

2016

dbSNP:

rs606231428

ATP1A3

1.000

41984946

missense variant

A/T

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.800

1.000

2012

2016

dbSNP:

rs606231430

ATP1A3

1.000

41982102

missense variant

C/A

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.800

1.000

2012

2016

dbSNP:

rs606231431

ATP1A3

1.000

41982097

missense variant

T/G

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.700

dbSNP:

rs606231432

ATP1A3

1.000

41982028

missense variant

C/A;G

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.700

dbSNP:

rs606231433

ATP1A3

1.000

41981988

missense variant

A/G

snv

CUI:	C3553788
Disease:	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

0.800

1.000

2012

2016