DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormality of brain morphology ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

TBC1 domain family member 24

0.530

0.808

1.3E-08

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

1.000

2014

Entrez Id:	58497
Gene Symbol:	PRUNE1

PRUNE1

prune exopolyphosphatase 1

0.678

0.308

9.1E-03

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	8398
Gene Symbol:	PLA2G6

PLA2G6

phospholipase A2 group VI

0.476

0.846

2.5E-10

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CLN6 transmembrane ER protein

0.670

0.231

1.0E-04

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

1.000

2013

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

centrosomal protein 290

0.517

0.769

1.1E-60

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

spectrin repeat containing nuclear envelope protein 1

0.511

0.846

3.2E-52

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	23426
Gene Symbol:	GRIP1

GRIP1

glutamate receptor interacting protein 1

0.581

0.769

0.51

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	6491
Gene Symbol:	STIL

STIL

STIL centriolar assembly protein

0.584

0.731

0.20

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	2581
Gene Symbol:	GALC

GALC

galactosylceramidase

0.604

0.615

5.2E-15

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	25821
Gene Symbol:	MTO1

MTO1

mitochondrial tRNA translation optimization 1

0.670

0.462

7.4E-06

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	259266
Gene Symbol:	ASPM

ASPM

abnormal spindle microtubule assembly

0.526

0.769

3.4E-49

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	998
Gene Symbol:	CDC42

CDC42

cell division cycle 42

0.458

0.846

0.79

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	5881
Gene Symbol:	RAC3

RAC3

Rac family small GTPase 3

0.682

0.423

2.6E-03

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.400

strong

1.000

2019

Entrez Id:	26278
Gene Symbol:	SACS

SACS

sacsin molecular chaperone

0.606

0.654

1.1E-23

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	7407
Gene Symbol:	VARS1

VARS1

valyl-tRNA synthetase 1

0.711

0.500

1.8E-08

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	57647
Gene Symbol:	DHX37

DHX37

DEAH-box helicase 37

0.792

0.385

0.99

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	65062
Gene Symbol:	TMEM237

TMEM237

transmembrane protein 237

0.612

0.538

1.9E-12

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

vacuolar protein sorting 13 homolog B

0.579

0.769

2.5E-45

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	100287722
Gene Symbol:	AP4B1-AS1

AP4B1-AS1

AP4B1 antisense RNA 1

0.805

0.231

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	10717
Gene Symbol:	AP4B1

AP4B1

adaptor related protein complex 4 subunit beta 1

0.631

0.654

1.3E-09

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	23090
Gene Symbol:	ZNF423

ZNF423

zinc finger protein 423

0.592

0.808

1.00

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	8558
Gene Symbol:	CDK10

CDK10

cyclin dependent kinase 10

0.650

0.577

1.2E-16

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	8912
Gene Symbol:	CACNA1H

CACNA1H

calcium voltage-gated channel subunit alpha1 H

0.628

0.423

4.8E-10

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	11122
Gene Symbol:	PTPRT

PTPRT

protein tyrosine phosphatase receptor type T

0.636

0.538

1.00

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	57231
Gene Symbol:	SNX14

SNX14

sorting nexin 14

0.659

0.423

6.1E-17

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None