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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	27245
Gene Symbol:	AHDC1

AHDC1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	23209
Gene Symbol:	MLC1

MLC1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	4774
Gene Symbol:	NFIA

NFIA

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	2737
Gene Symbol:	GLI3

GLI3

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	5528
Gene Symbol:	PPP2R5D

PPP2R5D

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	1387
Gene Symbol:	CREBBP

CREBBP

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	25792
Gene Symbol:	CIZ1

CIZ1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	2670
Gene Symbol:	GFAP

GFAP

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	51111
Gene Symbol:	KMT5B

KMT5B

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	2475
Gene Symbol:	MTOR

MTOR

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

GeneticVariation

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	90381
Gene Symbol:	TICRR

TICRR

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.100

CausalMutation

CLINVAR