DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Large head (disorder) ×

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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:	10771
Gene Symbol:	ZMYND11

ZMYND11

zinc finger MYND-type containing 11

0.647

0.500

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	65109
Gene Symbol:	UPF3B

UPF3B

UPF3B regulator of nonsense mediated mRNA decay

0.619

0.615

0.98

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

1.000

2007

2012

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:	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:	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:	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:	6812
Gene Symbol:	STXBP1

STXBP1

syntaxin binding protein 1

0.532

0.692

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

synaptic Ras GTPase activating protein 1

0.584

0.577

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	6595
Gene Symbol:	SMARCA2

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

0.527

0.769

1.00

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:	6334
Gene Symbol:	SCN8A

SCN8A

sodium voltage-gated channel alpha subunit 8

0.510

0.731

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

SATB homeobox 2

0.503

0.769

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

ribosomal protein S6 kinase A3

0.491

0.846

1.00

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:	5781
Gene Symbol:	PTPN11

PTPN11

protein tyrosine phosphatase non-receptor type 11

0.385

0.923

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

1.000

2004

2006

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

protein phosphatase 2 scaffold subunit Aalpha

0.588

0.577

0.98

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	5528
Gene Symbol:	PPP2R5D

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

0.722

0.462

1.00

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:	5290
Gene Symbol:	PIK3CA

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

0.292

0.923

1.00

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

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

nuclear receptor binding SET domain protein 1

0.505

0.769

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

1.000

2016

Entrez Id:	4781
Gene Symbol:	NFIB

NFIB

nuclear factor I B

0.573

0.654

1.00

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

phenotype

0.100

None

Entrez Id:	4774
Gene Symbol:	NFIA

NFIA

nuclear factor I A

0.599

0.808

1.00

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