DisGeNET - a database of gene-disease associations

KCTD7, potassium channel tetramerization domain containing 7, 154881

N. diseases: 68; N. variants: 17

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1554397774

66633273

splice acceptor variant

A/G

snv

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

Nervous System Diseases

0.700

1.000

2005

2016

dbSNP:

rs201296399

66633320

missense variant

A/G

snv

5.6E-05

4.9E-05

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

Nervous System Diseases

0.700

1.000

2005

2016

dbSNP:

rs387907246

0.925

0.040

66638912

missense variant

C/T

snv

2.0E-05

7.0E-06

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.800

1.000

1990

2016

dbSNP:

rs387907260

0.776

0.280

66633410

missense variant

C/T

snv

4.0E-06

1.4E-05

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.800

1.000

2007

2012

dbSNP:

rs387907261

0.925

0.040

66639180

missense variant

A/G;T

snv

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.800

1.000

2007

2012

dbSNP:

rs387907262

1.000

0.040

66638281

missense variant

G/T

snv

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.800

1.000

2007

2012

dbSNP:

rs387907263

1.000

0.040

66638260

missense variant

C/A

snv

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.800

1.000

2007

2012

dbSNP:

rs10263935

1.000

0.040

66631041

intron variant

G/A

snv

0.51

CUI:	C0340643
Disease:	Dissection of aorta

Dissection of aorta

Cardiovascular Diseases

0.010

1.000

2015

dbSNP:

rs10272546

66646470

intron variant

A/G

snv

0.51

CUI:	C0017654
Disease:	Glomerular Filtration Rate

Glomerular Filtration Rate

0.700

1.000

2019

dbSNP:

rs141191660

1.000

0.040

66639189

missense variant

A/G

snv

1.2E-05

7.0E-06

CUI:	C0751778
Disease:	Myoclonic Epilepsies, Progressive

Myoclonic Epilepsies, Progressive

Nervous System Diseases

0.010

1.000

2016

dbSNP:

rs1554397834

1.000

0.040

66633445

splice donor variant

G/A

snv

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.700

1.000

2012

dbSNP:

rs368001837

0.851

0.080

66638895

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0014550
Disease:	Myoclonic Epilepsy

Myoclonic Epilepsy

Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs368001837

0.851

0.080

66638895

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0085543
Disease:	Epilepsia Partialis Continua

Epilepsia Partialis Continua

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs368001837

0.851

0.080

66638895

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0036572
Disease:	Seizures

Seizures

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs368001837

0.851

0.080

66638895

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0014544
Disease:	Epilepsy

Epilepsy

Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs368001837

0.851

0.080

66638895

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C4317123
Disease:	Myoclonic Seizures

Myoclonic Seizures

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs387907261

0.925

0.040

66639180

missense variant

A/G;T

snv

CUI:	C0751778
Disease:	Myoclonic Epilepsies, Progressive

Myoclonic Epilepsies, Progressive

Nervous System Diseases

0.010

1.000

2016

dbSNP:

rs750033880

0.925

0.120

66633302

missense variant

G/A

snv

1.4E-05

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs750033880

0.925

0.120

66633302

missense variant

G/A

snv

1.4E-05

CUI:	C4317123
Disease:	Myoclonic Seizures

Myoclonic Seizures

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs750033880

0.925

0.120

66633302

missense variant

G/A

snv

1.4E-05

CUI:	C0014550
Disease:	Myoclonic Epilepsy

Myoclonic Epilepsy

Nervous System Diseases

0.010

1.000

2019

dbSNP:

rs267607199

1.000

0.040

66633425

stop gained

C/A;T

snv

8.0E-06; 4.0E-06

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.700

dbSNP:

rs368001837

0.851

0.080

66638895

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C2673257
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3

Nervous System Diseases

0.700

dbSNP:

rs387907246

0.925

0.040

66638912

missense variant

C/T

snv

2.0E-05

7.0E-06

CUI:	C4017260
Disease:	EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS

EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS

0.700

dbSNP:

rs387907260

0.776

0.280

66633410

missense variant

C/T

snv

4.0E-06

1.4E-05

CUI:	C1857483
Disease:	Decreased palmar creases

Decreased palmar creases

0.700

dbSNP:

rs387907260

0.776

0.280

66633410

missense variant

C/T

snv

4.0E-06

1.4E-05

CUI:	C4023342
Disease:	Gastrostomy tube feeding in infancy

Gastrostomy tube feeding in infancy

0.700