Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
HOLOPROSENCEPHALY	C0079541 MESH:D016142 MONDO:0016296	BOC	Unknown	—	Disgenet
		CDON	Unknown	—	Disgenet
		CNOT1	Unknown	—	Disgenet
		CRIPTO	Unknown	12073012	CTD Disgenet
		DISP1	Unknown	12421714 19184110 25339593 26748417 27363716	ClinGen Disgenet
		DLL1	Unknown	—	Disgenet
		FGF8	Unknown	29785796	Disgenet
		FGFR1	Unknown	29785796	CTD Disgenet
		FOXH1	Unknown	—	Disgenet
		GAS1	Unknown	17504940 17525797 20583177 21842183	CTD ClinGen Disgenet
		GLI2	Unknown	27585885 29785796	CTD Disgenet
		KIFC2	Unknown	—	Disgenet
		LAMA5	Unknown	—	Disgenet
		MATN4	Unknown	—	Disgenet
		NODAL	Unknown	23264560	CTD Disgenet
		PLCH1	Unknown	—	Disgenet
		PTCH1	Unknown	11941477 16405370 17001668 18830227 28496998 8906794	Disgenet GWAS catalog
		SCN7A	Unknown	32732226	GWAS catalog
		SHH	Unknown	15107988 17525797 23264560 27585885 31642701 29785796	CTD Disgenet
		SIX3	Unknown	10369266 29785796	CTD Disgenet GenCC
		STIL	Unknown	29785796	CTD Disgenet
		TGIF1	Unknown	16705179	CTD Disgenet
		TWSG1	Unknown	15013800	CTD Disgenet
		ZIC2	Unknown	29785796	Disgenet GWAS catalog
		ZRSR2	Unknown	—	Disgenet
HOLOPROSENCEPHALY 10	C2675857 MONDO:0976262	DISP1	Unknown	—	ClinVar Disgenet
HOLOPROSENCEPHALY 11	614226 C3280215 MONDO:0013642 OMIM:614226	CDON	Causal	21802063	CTD ClinVar Disgenet GWAS catalog HPO
HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS	618500 C5193131 MONDO:0032787	CNOT1	Causal	31006510 31006513	ClinGen ClinVar Disgenet HPO Orphanet
HOLOPROSENCEPHALY 13, X-LINKED	301043 C5393308 MONDO:0026763	STAG2	Causal	—	ClinVar Disgenet HPO
HOLOPROSENCEPHALY 14	619895 C5676994 MONDO:0030886	PLCH1	Causal	33820834	ClinVar Disgenet HPO
HOLOPROSENCEPHALY 2	157170 C1834877 MESH:C563579 MONDO:0007999	SIX3	Causal	10369266 17001667 19353631 11039582 19346217	CTD ClinVar Disgenet HPO
HOLOPROSENCEPHALY 2	157170 C1834877 MESH:C563579 MONDO:0007999	NSD1	Unknown	—	Disgenet
HOLOPROSENCEPHALY 3	142945 C1840529 MESH:C564181 MONDO:0007733	SHH	Causal	15103725 11471164 12567406	CTD ClinVar Disgenet HPO
HOLOPROSENCEPHALY 3	142945 C1840529 MESH:C564181 MONDO:0007733	LMBR1	Unknown	—	Disgenet
HOLOPROSENCEPHALY 4	142946 C1840528 MESH:C564180 MONDO:0007734	TGIF1	Causal	—	CTD ClinVar Disgenet GenCC HPO
HOLOPROSENCEPHALY 5	609637 C1864827 MESH:C566464 MONDO:0012322	ZIC2	Causal	9771712 21638761 11479728	CTD ClinVar Disgenet HPO
HOLOPROSENCEPHALY 7	610828 C1835820 MESH:C563660 MONDO:0012562	PTCH1	Causal	17001668 11941477	CTD ClinVar Disgenet GWAS catalog HPO
HOLOPROSENCEPHALY 7	610828 C1835820 MESH:C563660 MONDO:0012562	DISP1	Unknown	—	Disgenet
HOLOPROSENCEPHALY 9	610829 C1835819 MESH:C563659 MONDO:0012563	GLI2	Causal	—	CTD ClinVar Disgenet GenCC HPO
HOLOPROSENCEPHALY SEQUENCE		FGF8	Causal	—	ClinVar
		ZIC2	Causal	—	ClinVar
		CDON	Unknown	—	ClinVar
		CRIPTO	Unknown	—	ClinVar
		DISP1	Unknown	—	ClinVar
		DLL1	Unknown	—	ClinVar
		FOXH1	Unknown	—	ClinVar
		GAS1	Unknown	—	ClinVar
		GLI2	Unknown	—	ClinVar
		NODAL	Unknown	—	ClinVar
		PTCH1	Unknown	—	ClinVar

Holoprosencephaly