DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Large head (disorder) ×

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:	8701
Gene Symbol:	DNAH11

DNAH11

dynein axonemal heavy chain 11

0.587

0.692

2.5E-58

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

PMS1 homolog 2, mismatch repair system component

0.484

0.808

4.5E-27

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

1.000

2007

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

kinesin family member 7

0.528

0.731

2.3E-22

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

cytochrome P450 family 27 subfamily A member 1

0.538

0.731

5.3E-19

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	79158
Gene Symbol:	GNPTAB

GNPTAB

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

0.592

0.731

7.7E-19

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

1.000

2006

2014

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

MEFV innate immuity regulator, pyrin

0.440

0.885

1.0E-14

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	23334
Gene Symbol:	SZT2

SZT2

SZT2 subunit of KICSTOR complex

0.670

0.423

2.3E-14

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

NPHS1 adhesion molecule, nephrin

0.597

0.615

2.5E-14

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

transmembrane protein 94

0.628

0.654

2.8E-14

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	90381
Gene Symbol:	TICRR

TICRR

TOPBP1 interacting checkpoint and replication regulator

0.769

0.423

7.2E-14

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

SURF1 cytochrome c oxidase assembly factor

0.578

0.654

1.6E-13

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	54802
Gene Symbol:	TRIT1

TRIT1

tRNA isopentenyltransferase 1

0.621

0.692

4.1E-11

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

ATP binding cassette subfamily C member 9

0.552

0.692

9.4E-09

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

1.000

2016

Entrez Id:	23209
Gene Symbol:	MLC1

MLC1

modulator of VRAC current 1

0.585

0.769

3.2E-08

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	138050
Gene Symbol:	HGSNAT

HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase

0.628

0.577

6.3E-08

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	2670
Gene Symbol:	GFAP

GFAP

glial fibrillary acidic protein

0.421

0.885

1.5E-06

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	9158
Gene Symbol:	FIBP

FIBP

FGF1 intracellular binding protein

0.674

0.538

4.4E-06

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	54453
Gene Symbol:	RIN2

RIN2

Ras and Rab interactor 2

0.623

0.692

8.1E-04

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	283635
Gene Symbol:	FAM177A1

FAM177A1

family with sequence similarity 177 member A1

0.769

0.231

1.2E-03

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	2639
Gene Symbol:	GCDH

GCDH

glutaryl-CoA dehydrogenase

0.691

0.385

4.9E-03

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

unc-80 homolog, NALCN channel complex subunit

0.626

0.462

5.2E-02

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	25792
Gene Symbol:	CIZ1

CIZ1

CDKN1A interacting zinc finger protein 1

0.617

0.500

6.3E-02

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

HRas proto-oncogene, GTPase

0.378

0.885

8.0E-02

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

phosphatase and tensin homolog

0.305

0.923

0.26

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

1.000

2012