Orofaciodigital syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
OROFACIAL-DIGITAL SYNDROME IV		TCTN3	Causal	—	ClinVar	Anchoring of the basal body to the plasma membrane
OROFACIODIGITAL SYNDROME 16	MONDO:0033045	TMEM107	Causal	249013446 26518474 28289185	ClinVar, GWAS catalog	—
OROFACIODIGITAL SYNDROME 17	MONDO:0033375	INTU	Causal	—	ClinVar, GenCC	Hedgehog 'off' state
OROFACIODIGITAL SYNDROME 18	MONDO:0054770	IFT57	Causal	26655555 27060890 28289185	ClinVar, GWAS catalog	Huntington disease Pathways of neurodegeneration - multiple diseases Hedgehog 'off' state +1 more
OROFACIODIGITAL SYNDROME 19	MONDO:0859310	SCNM1	Causal	36084634	ClinVar, GWAS catalog	—
OROFACIODIGITAL SYNDROME 20	MONDO:0958230	RAB34	Causal	37384395 37619988	ClinVar, GWAS catalog	RAB geranylgeranylation
OROFACIODIGITAL SYNDROME 21	MONDO:0975827	ZRSR2	Causal	—	ClinVar	mRNA Splicing - Minor Pathway
OROFACIODIGITAL SYNDROME I	311200 C1510460 MONDO:0010702	OFD1	Causal	9198060 11950863 11179005 15221448 9482645	ClinVar, Disgenet, GWAS catalog, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
OROFACIODIGITAL SYNDROME IX	MONDO:0009795	TBC1D32	Causal	24285566 31130284 32060556 32573025	ClinVar, Disgenet	—
OROFACIODIGITAL SYNDROME TYPE 14	434179 MONDO:0014413	C2CD3	Causal	19004860 24997988 25053433 26092869 26477546 27094867 30097616	CTD, ClinGen, ClinVar, Orphanet	Anchoring of the basal body to the plasma membrane
OROFACIODIGITAL SYNDROME TYPE 6	2754 MONDO:0010176	CPLANE1	Causal	24178751 25407461	ClinVar, GWAS catalog, Orphanet	—
OROFACIODIGITAL SYNDROME V	174300 MONDO:0008267	DDX59	Causal	202638 23972372 282862 28289185 28454995 28711741 29127725 5620213	ClinVar, GWAS catalog, HPO	—
OROFACIODIGITAL SYNDROME XV	617127 C4310701 MONDO:0014932 OMIM:617127	KIAA0753	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	—