Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ORO-FACIAL DIGITAL SYNDROME TYPE 14	C4706604	C2CD3	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
OROFACIODIGITAL SYNDROME	MONDO:0015375	TBC1D32	Unknown	32573025	GWAS catalog	—
OROFACIODIGITAL SYNDROME 3	C0406726	CELSR2	Unknown	—	Disgenet	—
		IFT140	Unknown	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		OFD1	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		TMEM231	Unknown	—	Disgenet	—
OROFACIODIGITAL SYNDROME 4	C0406727 MESH:C537133	TCTN3	Unknown	—	CTD, Disgenet	Anchoring of the basal body to the plasma membrane
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	Anchoring of the basal body to the plasma membrane
OROFACIODIGITAL SYNDROME 9	C0796102	TBC1D32	Unknown	—	Disgenet	—
OROFACIODIGITAL SYNDROME I	C1510460	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	Anchoring of the basal body to the plasma membrane
OROFACIODIGITAL SYNDROME TYPE 1	2750 MESH:C537134	OFD1	Unknown	20301367	Orphanet, CTD	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 TYPE 18	508501	IFT57	Unknown	27060890	Orphanet	Huntington disease Pathways of neurodegeneration - multiple diseases Hedgehog 'off' state +1 more
OROFACIODIGITAL SYNDROME TYPE 2	2751	NEK1	Unknown	27530628	Orphanet	—
OROFACIODIGITAL SYNDROME TYPE 4	2753	TCTN3	Unknown	22883145	Orphanet	Anchoring of the basal body to the plasma membrane
OROFACIODIGITAL SYNDROME TYPE 5	2919	DDX59	Unknown	23972372	Orphanet	—
OROFACIODIGITAL SYNDROME TYPE 6	2754 MONDO:0010176	FAM149B1	Unknown	30905400	Disgenet, Orphanet	—
		KIAA0753	Unknown	26643951	Orphanet	—
		KIF7	Unknown	20301500 21633164	CTD, Orphanet	Hedgehog signaling pathway Motor proteins Pathways in cancer +3 more
		OFD1	Unknown	20301500	GWAS catalog, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		PDE6D	Unknown	24166846	Disgenet, Orphanet	Purine metabolism Metabolic pathways ARL13B-mediated ciliary trafficking of INPP5E
		TCTN3	Unknown	20301500 22883145	GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
		TMEM216	Unknown	20301500 20615230	GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
		TMEM231	Unknown	26982032	Orphanet	—
		TOPORS	Unknown	34132027	Orphanet	SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of immune response proteins
OROFACIODIGITAL SYNDROME TYPE 9	141007	TBC1D32	Unknown	32060556	Orphanet	—
OROFACIODIGITAL SYNDROME TYPE II	MONDO:0009642	NEK1	Unknown	27530628	ClinVar	—
OROFACIODIGITAL SYNDROME VI	277170 C2745997	CPLANE1	Unknown	—	Disgenet, HPO	—
		FAM149B1	Unknown	—	Disgenet	—
		KIAA0753	Unknown	—	Disgenet	—
		KIF7	Unknown	—	Disgenet	Hedgehog signaling pathway Motor proteins Pathways in cancer +3 more
		OFD1	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		PDE6D	Unknown	—	Disgenet	Purine metabolism Metabolic pathways ARL13B-mediated ciliary trafficking of INPP5E
		TCTN3	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TMEM216	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TMEM231	Unknown	—	Disgenet	—
		TOPORS	Unknown	—	Disgenet	SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of immune response proteins
OROFACIODIGITAL SYNDROME XIV	615948 OMIM:615948	C2CD3	Unknown	—	CTD, HPO	Anchoring of the basal body to the plasma membrane
OROFACIODIGITAL SYNDROME XIX	620107 C5774248	SCNM1	Unknown	—	Disgenet, HPO	—
OROFACIODIGITAL SYNDROME XIX	620107 C5774248	TNFAIP8L2-SCNM1	Unknown	36084634	Disgenet	—
OROFACIODIGITAL SYNDROME XVI	617563 C4539729	TMEM107	Unknown	—	Disgenet, HPO	—
OROFACIODIGITAL SYNDROME XVII	617926 C4693640	INTU	Unknown	—	Disgenet, HPO	Hedgehog 'off' state
OROFACIODIGITAL SYNDROME XVIII	617927	IFT57	Unknown	—	HPO	Huntington disease Pathways of neurodegeneration - multiple diseases Hedgehog 'off' state +1 more
OROFACIODIGITAL SYNDROME XX	620718 C5935578	RAB34	Unknown	37384395 37619988	Disgenet, HPO	RAB geranylgeranylation
OROFACIODIGITAL SYNDROME XXI	301132	ZRSR2	Unknown	—	HPO	mRNA Splicing - Minor Pathway
OROFACIODIGITAL SYNDROME, SHASHI TYPE	MESH:C537135	RBMX	Unknown	—	CTD	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
OROFACIODIGITAL SYNDROMES	C0029294 MESH:D009958	C2CD3	Unknown	24997988	CTD, Disgenet	Anchoring of the basal body to the plasma membrane
		CFAP184	Unknown	—	Disgenet	—
		KIAA0753	Unknown	—	Disgenet	—
		OFD1	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		RAB18	Unknown	—	Disgenet	Neutrophil degranulation COPI-independent Golgi-to-ER retrograde traffic RAB geranylgeranylation +1 more
		RAB3GAP1	Unknown	—	Disgenet	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		RAB3GAP2	Unknown	—	Disgenet	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		TBC1D20	Unknown	—	Disgenet	COPII-mediated vesicle transport TBC/RABGAPs
		TBC1D32	Unknown	—	Disgenet	—
		TMEM107	Unknown	26518474 26595381 26123494 28289185 24901346	Disgenet	—
		WDPCP	Unknown	—	Disgenet	—

Orofaciodigital syndrome

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