DisGeNET - a database of gene-disease associations

rs35993949, CPA6

N. diseases: 9

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.

Epilepsy, Rolandic

CUI:	C0376532
Disease:	Epilepsy, Rolandic

81

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

1.000

2018

2018

Abnormal emotion/affect behavior

CUI:	C4020949
Disease:	Abnormal emotion/affect behavior

13

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

Confusion

CUI:	C0009676
Disease:	Confusion

5

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

EPILEPSY, FAMILIAL TEMPORAL LOBE, 5

CUI:	C3280730
Disease:	EPILEPSY, FAMILIAL TEMPORAL LOBE, 5

3

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

Irregular Menstruation

CUI:	C0156404
Disease:	Irregular Menstruation

3

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

Palpitations

CUI:	C0030252
Disease:	Palpitations

7

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

Periventricular gray matter heterotopia

CUI:	C1849173
Disease:	Periventricular gray matter heterotopia

3

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

Seizures

CUI:	C0036572
Disease:	Seizures

553

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700

Seizures, Focal

CUI:	C0751495
Disease:	Seizures, Focal

15

0.882

0.040

8

67506804

missense variant

G/C

snv

1.5E-03

1.2E-03

0.700