Gene table of OFD1 : OFD1, centriole and centriolar satellite protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with OFD1	OMIM link	Number of associated genes	genes
PS213300	JOUBERT SYNDROME	ClinVar, OMIM	link to OMIM	27	TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2
311200	OROFACIODIGITAL SYNDROME I	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	OFD1
300209	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2	ClinVar, OMIM	link to OMIM	1	OFD1
PS268000	RETINITIS PIGMENTOSA	ClinVar, OMIM	link to OMIM	69	PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Recruitment of mitotic centrosome proteins and complexes	R-HSA-380270	6.68
Hedgehog 'off' state	R-HSA-5610787	6.19
Regulation of PLK1 Activity at G2/M Transition	R-HSA-2565942	6.66
Loss of proteins required for interphase microtubule organization from the centrosome	R-HSA-380284	7.03
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Signaling by Hedgehog	R-HSA-5358351	5.79
Mitotic G2-G2/M phases	R-HSA-453274	6.04
Anchoring of the basal body to the plasma membrane	R-HSA-5620912	6.51
Cell Cycle, Mitotic	R-HSA-69278	4.16
Signal Transduction	R-HSA-162582	1.78
Loss of Nlp from mitotic centrosomes	R-HSA-380259	7.03
Cell Cycle	R-HSA-1640170	3.89
Assembly of the primary cilium	R-HSA-5617833	5.44
Centrosome maturation	R-HSA-380287	6.68
G2/M Transition	R-HSA-69275	6.06

Associated GO terms for Molecular function

GO term	GO ID	GO IC
tubulin binding	GO:0015631	4.1
cytoskeletal protein binding	GO:0008092	3.02
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
alpha-tubulin binding	GO:0043014	6.37
gamma-tubulin binding	GO:0043015	6.56
identical protein binding	GO:0042802	2.63