Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ORO-FACIAL DIGITAL SYNDROME TYPE 14	C4706604	C2CD3	Unknown	—	Disgenet
OROFACIAL-DIGITAL SYNDROME IV		TCTN3	Causal	—	ClinVar
OROFACIODIGITAL SYNDROME	MONDO:0015375	TBC1D32	Unknown	32573025	GWAS catalog
OROFACIODIGITAL SYNDROME 16	MONDO:0033045	TMEM107	Causal	249013446 26518474 28289185	ClinVar GWAS catalog
OROFACIODIGITAL SYNDROME 17	MONDO:0033375	INTU	Causal	—	ClinVar GenCC
OROFACIODIGITAL SYNDROME 18	MONDO:0054770	IFT57	Causal	26655555 27060890 28289185	ClinVar GWAS catalog
OROFACIODIGITAL SYNDROME 19	MONDO:0859310	SCNM1	Causal	36084634	ClinVar GWAS catalog
OROFACIODIGITAL SYNDROME 20	MONDO:0958230	RAB34	Causal	37384395 37619988	ClinVar GWAS catalog
OROFACIODIGITAL SYNDROME 21	MONDO:0975827	ZRSR2	Causal	—	ClinVar
OROFACIODIGITAL SYNDROME 3	C0406726	CELSR2	Unknown	—	Disgenet
		IFT140	Unknown	—	Disgenet
		OFD1	Unknown	—	Disgenet
		TMEM231	Unknown	—	Disgenet
OROFACIODIGITAL SYNDROME 4	C0406727 MESH:C537133	TCTN3	Unknown	—	CTD Disgenet
OROFACIODIGITAL SYNDROME 5	C1868118 MESH:C557819	DDX59	Unknown	—	CTD Disgenet
OROFACIODIGITAL SYNDROME 6	MESH:C536531	CPLANE1	Unknown	—	CTD
OROFACIODIGITAL SYNDROME 9	C0796102	SCLT1	Unknown	—	Disgenet
OROFACIODIGITAL SYNDROME 9	C0796102	TBC1D32	Unknown	—	Disgenet
OROFACIODIGITAL SYNDROME I	311200 C1510460 MONDO:0010702	OFD1	Causal	9198060 11950863 11179005 15221448 9482645	ClinVar Disgenet GWAS catalog HPO
OROFACIODIGITAL SYNDROME I	311200 C1510460 MONDO:0010702	TMEM17	Unknown	—	Disgenet
OROFACIODIGITAL SYNDROME II	252100	NEK1	Unknown	—	HPO
OROFACIODIGITAL SYNDROME III	MONDO:0009793	TMEM231	Unknown	25869670	GWAS catalog
OROFACIODIGITAL SYNDROME IV	258860 MONDO:0009794	TCTN3	Unknown	22883145	ClinVar HPO
OROFACIODIGITAL SYNDROME IX	MONDO:0009795	TBC1D32	Causal	24285566 31130284 32060556 32573025	ClinVar Disgenet
OROFACIODIGITAL SYNDROME TYPE 1	2750 MESH:C537134	OFD1	Unknown	20301367	Orphanet
OROFACIODIGITAL SYNDROME TYPE 14	434179 MONDO:0014413	C2CD3	Causal	19004860 24997988 25053433 26092869 26477546 27094867 30097616	CTD ClinGen ClinVar Orphanet
OROFACIODIGITAL SYNDROME TYPE 18	508501	IFT57	Unknown	27060890	Orphanet
OROFACIODIGITAL SYNDROME TYPE 2	2751	NEK1	Unknown	27530628	Orphanet
OROFACIODIGITAL SYNDROME TYPE 4	2753	TCTN3	Unknown	22883145	Orphanet
OROFACIODIGITAL SYNDROME TYPE 5	2919	DDX59	Unknown	23972372	Orphanet
OROFACIODIGITAL SYNDROME TYPE 6	2754 MONDO:0010176	CPLANE1	Causal	24178751 25407461	ClinVar GWAS catalog Orphanet
		FAM149B1	Unknown	30905400	Disgenet Orphanet
		KIAA0753	Unknown	26643951	Orphanet
		KIF7	Unknown	20301500 21633164	CTD Orphanet
		OFD1	Unknown	20301500	GWAS catalog Orphanet
		PDE6D	Unknown	24166846	Disgenet Orphanet
		TCTN3	Unknown	20301500 22883145	GWAS catalog Orphanet
		TMEM216	Unknown	20301500 20615230	GWAS catalog Orphanet
		TMEM231	Unknown	26982032	Orphanet
		TOPORS	Unknown	34132027	Orphanet
OROFACIODIGITAL SYNDROME TYPE 9	141007	TBC1D32	Unknown	32060556	Orphanet
OROFACIODIGITAL SYNDROME TYPE II	MONDO:0009642	NEK1	Unknown	27530628	ClinVar
OROFACIODIGITAL SYNDROME V	174300 MONDO:0008267	DDX59	Causal	202638 23972372 282862 28289185 28454995 28711741 29127725 5620213	ClinVar GWAS catalog HPO
OROFACIODIGITAL SYNDROME VI	277170 C2745997	CPLANE1	Unknown	—	Disgenet HPO
		FAM149B1	Unknown	—	Disgenet
		KIAA0753	Unknown	—	Disgenet
		KIF7	Unknown	—	Disgenet
		OFD1	Unknown	—	Disgenet
		PDE6D	Unknown	—	Disgenet

Orofaciodigital syndrome