DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Relative macrocephaly ×

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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:	5894
Gene Symbol:	RAF1

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

0.418

0.885

0.85

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

1.000

2007

2007

Entrez Id:	10522
Gene Symbol:	DEAF1

DEAF1

DEAF1 transcription factor

0.575

0.615

3.4E-04

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

1.000

2017

2017

Entrez Id:	8925
Gene Symbol:	HERC1

HERC1

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

0.674

0.500

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

1.000

2016

2016

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

cyclin dependent kinase 13

0.606

0.692

0.91

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

1.000

2017

2017

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

zinc metallopeptidase STE24

0.517

0.731

8.9E-16

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	8456
Gene Symbol:	FOXN1

FOXN1

forkhead box N1

0.615

0.654

0.94

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	79718
Gene Symbol:	TBL1XR1

TBL1XR1

TBL1X receptor 1

0.534

0.808

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

transcriptional repressor GATA binding 1

0.537

0.769

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	6125
Gene Symbol:	RPL5

RPL5

ribosomal protein L5

0.617

0.615

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

AT-rich interaction domain 1B

0.503

0.846

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	54499
Gene Symbol:	TMCO1

TMCO1

transmembrane and coiled-coil domains 1

0.588

0.654

9.4E-10

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	388650
Gene Symbol:	DIPK1A

DIPK1A

divergent protein kinase domain 1A

0.743

0.423

0.58

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	2690
Gene Symbol:	GHR

GHR

growth hormone receptor

0.490

0.846

8.4E-05

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	25839
Gene Symbol:	COG4

COG4

component of oligomeric golgi complex 4

0.631

0.615

4.0E-09

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

activity dependent neuroprotector homeobox

0.561

0.808

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

fibrillin 1

0.417

0.846

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None

Entrez Id:	9369
Gene Symbol:	NRXN3

NRXN3

neurexin 3

0.656

0.615

1.00

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

disease

0.100

None