DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Microcephaly ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1020
Gene Symbol:	CDK5

CDK5

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	26999
Gene Symbol:	CYFIP2

CYFIP2

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	953
Gene Symbol:	ENTPD1

ENTPD1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	64374
Gene Symbol:	SIL1

SIL1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	57697
Gene Symbol:	FANCM

FANCM

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	50937
Gene Symbol:	CDON

CDON

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	91869
Gene Symbol:	RFT1

RFT1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	7703
Gene Symbol:	PCGF2

PCGF2

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	5052
Gene Symbol:	PRDX1

PRDX1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	25782
Gene Symbol:	RAB3GAP2

RAB3GAP2

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	79143
Gene Symbol:	MBOAT7

MBOAT7

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	3040
Gene Symbol:	HBA2

HBA2

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	8514
Gene Symbol:	KCNAB2

KCNAB2

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	1727
Gene Symbol:	CYB5R3

CYB5R3

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	112939
Gene Symbol:	NACC1

NACC1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	54187
Gene Symbol:	NANS

NANS

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	3763
Gene Symbol:	KCNJ6

KCNJ6

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	197322
Gene Symbol:	ACSF3

ACSF3

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	4512
Gene Symbol:	COX1

COX1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO

Entrez Id:	5160
Gene Symbol:	PDHA1

PDHA1

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.100

Biomarker

HPO