Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CRANIODIAPHYSEAL DYSPLASIA	1513 C0410539 MONDO:0009031	SOST	Unknown	21221996	Disgenet GWAS catalog Orphanet
CRANIODIAPHYSEAL DYSPLASIA	1513 C0410539 MONDO:0009031	SP7	Unknown	36436818	Disgenet Orphanet
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	122860 C2675746 MESH:C567275 MONDO:0021021	SOST	Causal	21221996	CTD ClinVar Disgenet GWAS catalog HPO
CRANIOECTODERMAL DYSPLASIA	1515 C4551571 MESH:C562966 MONDO:0009032	IFT122	Causal	21438135 22791528 24027799	CTD Disgenet Orphanet
		IFT140	Causal	—	Disgenet
		WDR19	Causal	22791528 24027799	CTD Disgenet Orphanet
		WDR35	Causal	21438135 22791528 24027799	CTD Disgenet Orphanet
		CILK1	Unknown	—	Disgenet
		IFT43	Unknown	22791528 24027799	CTD Disgenet Orphanet
		IFT52	Unknown	26880018 27466190	Disgenet Orphanet
CRANIOECTODERMAL DYSPLASIA 1	218330 C0432235 MONDO:0021093	IFT122	Causal	20493458 19760620 17022080	ClinGen ClinVar Disgenet GWAS catalog HPO
		IFT43	Unknown	—	Disgenet
		WDR19	Unknown	—	Disgenet
		WDR35	Unknown	—	Disgenet
CRANIOECTODERMAL DYSPLASIA 2	C3150874 613610 MONDO:0013323	SPAG17	Causal	—	Disgenet
CRANIOECTODERMAL DYSPLASIA 2	C3150874 613610 MONDO:0013323	WDR35	Causal	20817137 21473986 35875935 29134781 32804427 28368018	ClinGen ClinVar Disgenet HPO
CRANIOECTODERMAL DYSPLASIA 3	614099 C3279807 MONDO:0013573	IFT43	Causal	21378380	ClinVar Disgenet HPO
CRANIOECTODERMAL DYSPLASIA 4	614378 C3280616 MONDO:0013719	WDR19	Causal	22019273	ClinVar Disgenet GWAS catalog HPO
CRANIOECTODERMAL DYSPLASIA 5	MONDO:0976269	IFT140	Unknown	—	ClinVar

Craniodiaphyseal dysplasia