Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MICROCEPHALY	C0025958 MESH:D008831 MONDO:0001149	CDK5RAP2	Causal	—	Disgenet
		DYNC1H1	Causal	23603762	CTD Disgenet
		LMNB1	Causal	32910914 33033404	GWAS catalog
		PQBP1	Causal	14634649 15024694 16740914	CTD Disgenet
		SLC2A1	Causal	10980529 9462754	CTD Disgenet
		TCF4	Causal	18728071	CTD Disgenet
		TSEN54	Causal	18711368	CTD Disgenet
		AKT3	Unknown	15713641 28442992 32827175	ClinGen GWAS catalog
		BUB1B	Unknown	15475955	CTD Disgenet
		CASK	Unknown	19165920	CTD Disgenet
		CEP63	Unknown	21983783	CTD Disgenet
		DNM1L	Unknown	17460227	CTD Disgenet
		DNMT3A	Unknown	30478443	CTD Disgenet
		DONSON	Unknown	28191891	CTD Disgenet
		EFTUD2	Unknown	—	Disgenet
		ERCC6	Unknown	10739753 18628313	CTD Disgenet
		FOXG1	Unknown	18627055	CTD Disgenet
		H4C3	Unknown	28920961	CTD
		IGF1	Unknown	—	Disgenet
		KIF2A	Unknown	23603762	CTD Disgenet
		KIF5C	Unknown	23603762	CTD Disgenet
		KIFBP	Unknown	15883926	CTD Disgenet
		LMNB2	Unknown	33033404	Orphanet
		MCPH1	Unknown	—	Disgenet
		MFSD2A	Unknown	26005865 26005868	CTD Disgenet
		MSI1	Unknown	28572454	GWAS catalog
		NR2E1	Unknown	—	GenCC
		NSD1	Unknown	—	Disgenet
		ORC1	Unknown	21358633	CTD Disgenet
		PLK4	Unknown	25344692	CTD Disgenet
		PNKP	Unknown	20118933	CTD Disgenet
		SIN3A	Unknown	27399968	CTD Disgenet
		SLC25A19	Unknown	—	Disgenet
		SPDL1	Unknown	—	GenCC
		STAMBP	Unknown	23542699	CTD Disgenet
		TBCD	Unknown	27666370 27666374	CTD Disgenet
		TEDC1	Unknown	—	GenCC
		TRAIP	Unknown	26595769	CTD Disgenet
		TSEN2	Unknown	18711368	CTD Disgenet
		TSEN34	Unknown	18711368	CTD Disgenet
		TTI1	Unknown	—	GenCC
		TUBA1A	Unknown	—	Disgenet
		TUBG1	Unknown	23603762	CTD Disgenet
		WDR62	Unknown	20890278 20890279	CTD
		ZC4H2	Unknown	26056227	CTD Disgenet
MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE	251200 MONDO:0009617	MCPH1	Causal	16311745 20978018 7693575 11857108 12046007	ClinVar GWAS catalog HPO
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE	615095 C3554499 OMIM:615095	ZNF335	Unknown	—	CTD Disgenet HPO
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE	615414 C3809431 MONDO:0014173 OMIM:615414	PHC1	Causal	23418308	CTD ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE	616080 C4015156 MONDO:0014484 OMIM:616080	CDK6	Causal	23918663	CTD ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE	616051 C4015080 MONDO:0014473 OMIM:616051	CENPE	Causal	12361599	CTD ClinVar Disgenet GWAS catalog HPO

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Microcephaly