OFD1

Summary

OFD1 (OFD1 centriole and centriolar satellite protein, HGNC:2567) is a protein-coding gene on chromosome Xp22.2, encoding Centriole and centriolar satellite protein OFD1 (O75665). Component of the centrioles controlling mother and daughter centrioles length. It is haploinsufficient (ClinGen: sufficient evidence).

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome.

Source: NCBI Gene 8481 — RefSeq curated summary.

At a glance

• Gene–disease (curated): OFD1-related ciliopathy (Definitive, ClinGen) — +7 more curated relationships
• Clinical variants (ClinVar): 1,387 total — 121 pathogenic, 58 likely-pathogenic
• Phenotypes (HPO): 250
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_003611

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2567
Approved symbol	OFD1
Name	OFD1 centriole and centriolar satellite protein
Location	Xp22.2
Locus type	gene with protein product
Status	Approved
Aliases	71-7A, JBTS10
Ensembl gene	ENSG00000046651
Ensembl biotype	protein_coding
OMIM	300170
Entrez	8481

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 11 protein_coding, 11 nonsense_mediated_decay, 6 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000340096, ENST00000380550, ENST00000380567, ENST00000398395, ENST00000464463, ENST00000466534, ENST00000474705, ENST00000485052, ENST00000490265, ENST00000682237, ENST00000682562, ENST00000682953, ENST00000683055, ENST00000683065, ENST00000683284, ENST00000683427, ENST00000683454, ENST00000683637, ENST00000683655, ENST00000683713, ENST00000684401, ENST00000684577, ENST00000922709, ENST00000922710, ENST00000922711, ENST00000922712, ENST00000922713, ENST00000922714, ENST00000922715, ENST00000967536, ENST00000967537

RefSeq mRNA: 3 — MANE Select: NM_003611 NM_001330209, NM_001330210, NM_003611

CCDS: CCDS14157, CCDS83454

Canonical transcript exons

ENST00000340096 — 23 exons

Exon	Start	End
ENSE00001712152	13753368	13753441
ENSE00003476711	13739002	13739032
ENSE00003481257	13744415	13744519
ENSE00003488013	13767127	13767284
ENSE00003502620	13760115	13760720
ENSE00003510394	13746319	13746455
ENSE00003511421	13746780	13746953
ENSE00003511450	13751249	13751368
ENSE00003513024	13735248	13735346
ENSE00003515284	13756578	13756767
ENSE00003525077	13761085	13761211
ENSE00003543066	13755151	13755242
ENSE00003568772	13738846	13738914
ENSE00003584974	13762344	13762444
ENSE00003587927	13734748	13735083
ENSE00003593113	13758337	13758448
ENSE00003594896	13757660	13757790
ENSE00003605203	13749427	13749533
ENSE00003636696	13736478	13736678
ENSE00003646158	13768054	13768224
ENSE00003652171	13768718	13768785
ENSE00003683842	13763745	13763855
ENSE00003841507	13769066	13769357

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 97.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.7833 / max 215.4254, expressed in 1782 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195581	8.2643	1644
195583	6.1948	1573
195582	3.2404	1362
195586	0.6757	306
195580	0.1331	48
195585	0.1201	46
195588	0.0789	10
195584	0.0761	31

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.00	gold quality
bronchial epithelial cell	CL:0002328	96.74	gold quality
cervix squamous epithelium	UBERON:0006922	96.51	gold quality
epithelium of bronchus	UBERON:0002031	96.25	gold quality
right uterine tube	UBERON:0001302	96.12	gold quality
bronchus	UBERON:0002185	96.01	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.96	gold quality
lower esophagus mucosa	UBERON:0035834	95.90	gold quality
cranial nerve II	UBERON:0000941	95.50	gold quality
parotid gland	UBERON:0001831	95.42	gold quality
male germ cell	CL:0000015	95.20	gold quality
tendon of biceps brachii	UBERON:0008188	94.21	gold quality
endometrium	UBERON:0001295	94.09	gold quality
left lobe of thyroid gland	UBERON:0001120	94.02	gold quality
left ovary	UBERON:0002119	93.98	gold quality
right lobe of thyroid gland	UBERON:0001119	93.89	gold quality
thyroid gland	UBERON:0002046	93.85	gold quality
granulocyte	CL:0000094	93.61	gold quality
body of pancreas	UBERON:0001150	93.61	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.43	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.24	gold quality
oviduct epithelium	UBERON:0004804	93.23	gold quality
adenohypophysis	UBERON:0002196	93.10	gold quality
right lung	UBERON:0002167	93.06	gold quality
right ovary	UBERON:0002118	93.03	gold quality
gingival epithelium	UBERON:0001949	92.99	gold quality
tonsil	UBERON:0002372	92.85	gold quality
spleen	UBERON:0002106	92.84	gold quality
epithelium of nasopharynx	UBERON:0001951	92.83	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.77	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-8498	yes	521.96
E-CURD-112	yes	14.26
E-HCAD-10	yes	11.29
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DDIT3, GLI3

miRNA regulators (miRDB)

27 targeting OFD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-4676-5P	97.54	65.29	715
HSA-MIR-575	97.54	65.18	718
HSA-MIR-320E	97.49	65.96	865
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-6767-3P	93.99	66.01	204

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 36)

• OFD1 plays a role in differentiation of metanephric precursor cells. (PMID:12595504)
• demonstrated that OFD1 is conserved among vertebrates and absent in invertebrates; evolutionarily conserved domains in the protein were identified; nonfunctional OFD1 copies, organized in repeat units on the human Y chromosome, were identified (PMID:12782125)
• These striking patterns of OFD1 localization within cells place the protein at key sites, where it may play roles not only in microtubule organization (centrosomal function) but also in mechanosensation of urine flow (a primary ciliary function). (PMID:15466260)
• In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. (PMID:16397067)
• Study reports on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. (PMID:16783569)
• OFD1 may be part of a multi-protein complex and could play different biological functions in the centrosome-primary cilium organelles as well as in the nuclear compartment (PMID:17761535)
• exon 3 nucleotide change, 243C>G, leading to the missense mutation H81Q, [is] causative mutation [of] orofaciodigital I syndrome (PMID:18177199)
• Six OFD1 genomic deletions (exon 5, exons 1-8, exons 1-14, exons 10-11, exons 13-23 and exon 17) were identified, accounting for 5% of OFDI patients and for 23% of patients with negative mutation screening by DNA sequencing. (PMID:19023858)
• Odontoblasts in vitro express tubulin, inversin, rootletin, OFD1, BBS4, BBS6, ALMS1, KIF3A, PC1, and PC2. In vivo, cilia align parallel to dentin walls with top part oriented toward pulp core. Close relations between cilium and nerve fibers are found. (PMID:19783798)
• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin (PMID:19800048)
• Ofd1 acts at the distal centriole to build distal appendages, recruit Ift88, and stabilize centriolar microtubules at a defined length. (PMID:20230748)
• Documentation of OFD I mutations, extreme beading of the intrahepatic bile ducts and pancreatic cysts of patients having hepatic, pancreatic, and renal cystic disease. (PMID:20818665)
• A single-base deletion in exon 16 of OFD1 (c.2183delG) leading to a frameshift was detected in proband, her mother, and her sister. All 3 women had similar oral phenotype; new mutation might be involved in development of OFD1 oral manifestations. (PMID:21729220)
• Sequence deletion in OFD1 has been identified as the cause of X-linked Joubert syndrome. (PMID:22353940)
• Identification of a causative splicing mutation in OFD1, through exome sequencing, in a family with three males having an ‘unclassified’ X-linked lethal congenital malformation syndrome. (PMID:22548404)
• Deep intronic mutation in OFD1 causes a severe form of X-linked retinitis pigmentosa. (PMID:22619378)
• Data indicate that although the OFD1 gene apparently escapes X-inactivation, skewed inactivation was observed in seven of 14 patient. (PMID:23033313)
• Novel OFD1 mutations have been identified in males with orofaciodigital syndromes and ciliary basal body docking impairment. (PMID:23036093)
• OFD1 regulation and primary cilium formation are defective in autophagy-deficient cells (PMID:24343661)
• loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. (PMID:24691443)
• polycystins are necessary for assembly of a novel flotillin-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations. (PMID:25180832)
• Loss of OFD1 expression is associated with Oral-facial-digital syndrome type I. (PMID:27798113)
• The underlying pathogenesis of CHD in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development. (PMID:28371265)
• The authors demonstrate that OFD1 cooperates with the mRNA binding protein Bicc1 to functionally control the protein synthesis machinery at the centrosome where also the PIC and eIF4F components were shown to localize in mammalian cells. (PMID:28450740)
• In our study, we identified a novel OFD1 mutation c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with phenotypes of JBTS. The de-novo OFD1 mutation in exon 21 of OFD1 results in a frameshift and a substitution of Arg to Lys at the 948th amino-acid residue, generating a prematurely truncated protein. (PMID:28505061)
• Talpid3, C2CD3, and OFD1 differentially regulate the assembly of centriole sub-distal appendages, the CEP350/FOP/CEP19 module, centriolar satellites, and actin networks. (PMID:30258116)
• OFD1 mutation is associated with Oral-facial-digital syndrome type 1. (PMID:30401917)
• Total OFD1 mRNA in the index fetus was significantly lower than the control. (PMID:30581852)
• this is the first clinical report of a live born male with JS and OFD features secondary to a novel pathogenic variant in OFD1 gene that resulted in a complete pituitary aplasia and subsequent severe hypoplasia of peripheral endocrine glands. (PMID:30895720)
• Truncations of the C-terminal part of OFD1 (exons 16-22) almost invariably cause a respiratory phenotype. (PMID:31366608)
• s clinicians consider the presence or absence of conditions allelic at OFD1, PCD should be considered part of the spectrum of OFD1-related disorders. Understanding the OFD1-related disease spectrum may allow for more focused genetic testing and more timely management of treatable sequelae. (PMID:31373179)
• The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. (PMID:32473706)
• Indian child with novel variant in OFD1 gene. (PMID:32677760)
• A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. (PMID:32944789)
• A ciliopathy complex builds distal appendages to initiate ciliogenesis. (PMID:34241634)
• Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin. (PMID:38139355)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ofd1	ENSDARG00000000529
mus_musculus	Ofd1	ENSMUSG00000040586
rattus_norvegicus	Ofd1	ENSRNOG00000004574

Protein

Protein identifiers

Centriole and centriolar satellite protein OFD1 — O75665 (reviewed: O75665)

Alternative names: Oral-facial-digital syndrome 1 protein, Protein 71-7A

All UniProt accessions (10): A0A804HHU8, A0A804HIZ6, A0A804HK70, A0A804HK98, A0A804HKD3, A0A804HL42, A6NF31, A8K2T9, E9KL37, O75665

UniProt curated annotations — full annotation on UniProt →

Function. Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation.

Subunit / interactions. Homooligomer. Interacts with LCA5. Interacts with RUVBL1; the interaction is direct and may mediate interaction with the NuA4 histone acetyltransferase complex. Interacts with SDCCAG8; the interaction is direct. Interacts with MAP1LC3B. Interacts with C2CD3; OFD1 may act as a negative regulator of C2CD3. Forms a complex with KIAA0753/OFIP and CEP20/FOR20; the interaction with CEP20 is detected only in the presence of KIAA0753. Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP. Interacts with TBC1D31; regulates OFD1 activity in cilium assembly.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body. Nucleus. Centriolar satellite.

Tissue specificity. Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb.

Post-translational modifications. Phosphorylated. Phosphorylation at Ser-735, by the cAMP-dependent protein kinase PKA, triggers ubiquitination and proteasomal degradation of OFD1. Also increases its interaction with TBC1D31 and regulates its function in ciliogenesis. Ubiquitinated by PJA2, upon phosphorylation at Ser-735 by PKA, leads to the proteasomal degradation of OFD1.

Disease relevance. Orofaciodigital syndrome 1 (OFD1) [MIM:311200] A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys. The disease is caused by variants affecting the gene represented in this entry. Simpson-Golabi-Behmel syndrome 2 (SGBS2) [MIM:300209] A severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. The disease may be caused by variants affecting the gene represented in this entry. Joubert syndrome 10 (JBTS10) [MIM:300804] A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 23 (RP23) [MIM:300424] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the OFD1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
O75665-1	1, ODF1a	yes
O75665-2	2, ODF1b
O75665-3	3

RefSeq proteins (3): NP_001317138, NP_001317139, NP_003602* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006594	LisH	Conserved_site
IPR055289	OFD1	Family

Pfam: PF16045

UniProt features (37 total): modified residue 9, sequence variant 8, region of interest 6, compositionally biased region 4, coiled-coil region 3, splice variant 3, mutagenesis site 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75665-F1	68.41	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (9): 663, 669, 686, 720, 735, 745, 774, 789, 811

Mutagenesis-validated functional residues (2):

Position	Phenotype
97	increased protein stability.
735	loss of phosphorylation by pka. loss of camp-dependent interaction with tbc1d31. loss of ubiquitin-mediated proteasomal

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5610787	Hedgehog ‘off’ state
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-8854518	AURKA Activation by TPX2

MSigDB gene sets: 630 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_BODY_MORPHOGENESIS, BROWNE_HCMV_INFECTION_6HR_DN, WANG_CLIM2_TARGETS_UP, MODULE_493, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_NEGATIVE_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_CENTRIOLE_ASSEMBLY, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION

GO Biological Process (6): embryonic body morphogenesis (GO:0010172), axoneme assembly (GO:0035082), cilium assembly (GO:0060271), epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287), obsolete negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314), cell projection organization (GO:0030030)

GO Molecular Function (5): identical protein binding (GO:0042802), alpha-tubulin binding (GO:0043014), gamma-tubulin binding (GO:0043015), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (13): extracellular region (GO:0005576), nucleus (GO:0005634), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cilium (GO:0005929), membrane (GO:0016020), motile cilium (GO:0031514), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
G2/M Transition	2
Centrosome maturation	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Signaling by Hedgehog	1
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
microtubule organizing center	3
tubulin binding	2
binding	2
intracellular membraneless organelle	2
cilium	2
body morphogenesis	1
embryonic morphogenesis	1
microtubule bundle formation	1
cellular component assembly	1
cilium assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
epithelial cilium movement involved in extracellular fluid movement	1
determination of left/right symmetry	1
cellular component organization	1
protein binding	1
molecular_function	1
intracellular membrane-bounded organelle	1
centriole	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
centrosome	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OFD1	NDE1	Q9NXR1	976
OFD1	SDCCAG8	Q86SQ7	959
OFD1	TMEM216	Q9P0N5	876
OFD1	IFT172	Q9UG01	860
OFD1	CEP290	O15078	860
OFD1	ARL13B	Q3SXY8	857
OFD1	CC2D2A	Q9P2K1	834
OFD1	RPGRIP1L	Q68CZ1	819
OFD1	AHI1	Q8N157	817
OFD1	TMEM67	Q5HYA8	810
OFD1	IFT88	Q13099	804
OFD1	LCA5	Q86VQ0	803
OFD1	NPHP1	O15259	798
OFD1	TCOF1	Q13428	789
OFD1	BBS4	Q96RK4	788

IntAct

208 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
OFD1	DYNLL1	psi-mi:“MI:0914”(association)	0.890
CSNK1E	PER1	psi-mi:“MI:0914”(association)	0.840
CTTNBP2NL	STRN	psi-mi:“MI:2364”(proximity)	0.820
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
SDCCAG8	OFD1	psi-mi:“MI:0914”(association)	0.710
CEP20	OFD1	psi-mi:“MI:0914”(association)	0.710
OFD1	PCM1	psi-mi:“MI:0915”(physical association)	0.690
MAP1LC3B	OFD1	psi-mi:“MI:0914”(association)	0.660
MAP1LC3B	OFD1	psi-mi:“MI:0915”(physical association)	0.660
MAP1LC3B	OFD1	psi-mi:“MI:0403”(colocalization)	0.660
C2CD3	OFD1	psi-mi:“MI:0915”(physical association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
MIS18A	DCTN6	psi-mi:“MI:0914”(association)	0.640
OFD1	PLK1	psi-mi:“MI:0915”(physical association)	0.620
PLK1	OFD1	psi-mi:“MI:0915”(physical association)	0.620
AURKB	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570

BioGRID (462): OFD1 (Affinity Capture-MS), OFD1 (Affinity Capture-MS), OFD1 (Affinity Capture-MS), OFD1 (Proximity Label-MS), OFD1 (Proximity Label-MS), OFD1 (Proximity Label-MS), OFD1 (Proximity Label-MS), OFD1 (Proximity Label-MS), OFD1 (Proximity Label-MS), OFD1 (Proximity Label-MS), OFD1 (Proximity Label-MS), OFD1 (Affinity Capture-Western), OFD1 (Affinity Capture-Western), OFD1 (Affinity Capture-Western), OFD1 (Affinity Capture-Western)

ESM2 similar proteins: A0PJP4, A0PJT0, A2VDP1, A4IFK7, D3ZUQ0, E9PSL7, O14578, O75665, P0C219, P49025, P97817, Q01850, Q0IHE5, Q14BN4, Q17QG3, Q28623, Q3LGD4, Q3SYW5, Q3URD3, Q3V079, Q4R3X1, Q4R7Y8, Q58A65, Q5DTM8, Q5EBL4, Q5R5R4, Q5VTR2, Q5ZJA3, Q5ZLS3, Q62172, Q62796, Q68CZ1, Q6AYA0, Q6DFC2, Q6DH86, Q6NRH3, Q6ZUS6, Q7Z3E2, Q86VS8, Q8BR07

Diamond homologs: O75665, Q7SZK7, Q80Z25

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
OFD1	“up-regulates activity”	IFT88	binding
OFD1	“down-regulates quantity by destabilization”	ULK1/Atg13/Fip200	binding
OFD1	“down-regulates quantity by destabilization”	ATG13	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 190 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Cytosolic tRNA aminoacylation	7	27.7×	1e-07
Loss of Nlp from mitotic centrosomes	19	27.1×	1e-20
Loss of proteins required for interphase microtubule organization from the centrosome	19	27.1×	1e-20
Anchoring of the basal body to the plasma membrane	26	26.5×	7e-28
AURKA Activation by TPX2	19	26.1×	3e-20
Recruitment of mitotic centrosome proteins and complexes	20	24.5×	1e-20
Centrosome maturation	10	22.9×	7e-10
Regulation of PLK1 Activity at G2/M Transition	19	21.7×	8e-19

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	9	41.5×	2e-10
protein localization to centrosome	7	29.7×	7e-07
non-motile cilium assembly	11	20.1×	2e-09
microtubule nucleation	5	19.6×	5e-04
motile cilium assembly	5	18.3×	6e-04
mitotic spindle organization	9	15.4×	1e-06
centrosome cycle	7	14.8×	7e-05
cilium assembly	21	9.7×	4e-12

Disease & clinical

Clinical variants and AI predictions

ClinVar

1387 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	121
Likely pathogenic	58
Uncertain significance	536
Likely benign	314
Benign	68

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1073993	NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs)	Pathogenic
11507	NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer)	Pathogenic
11508	NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs)	Pathogenic
11509	NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs)	Pathogenic
11510	NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)	Pathogenic
11512	NM_001011658.4(TRAPPC2):c.93+5G>A	Pathogenic
11516	NM_001011658.4(TRAPPC2):c.238+4T>C	Pathogenic
11537	NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg)	Pathogenic
11538	NM_003611.3(OFD1):c.312+1del	Pathogenic
11540	NM_003611.3(OFD1):c.413-10T>G	Pathogenic
11541	NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs)	Pathogenic
11543	NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs)	Pathogenic
11544	NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs)	Pathogenic
11545	NM_003611.3(OFD1):c.2767del (p.Glu923fs)	Pathogenic
1176594	NM_003611.3(OFD1):c.1366C>T (p.Gln456Ter)	Pathogenic
1179099	NM_003611.3(OFD1):c.1411+1G>A	Pathogenic
1188043	NM_003611.3(OFD1):c.2833C>T (p.Gln945Ter)	Pathogenic
127114	NM_001011658.4(TRAPPC2):c.239-11_239-9del	Pathogenic
1344687	NM_003611.3(OFD1):c.2862dup (p.Glu955Ter)	Pathogenic
1423762	NC_000023.10:g.(?13753081)(13765093_?)del	Pathogenic
1456831	NM_003611.3(OFD1):c.905_906del (p.Glu302fs)	Pathogenic
159465	NM_003611.3(OFD1):c.1332del (p.Lys444fs)	Pathogenic
1685998	NM_003611.3(OFD1):c.802_820del (p.Leu268fs)	Pathogenic
1709820	NM_003611.3(OFD1):c.839_840del (p.Lys280fs)	Pathogenic
1736333	NM_003611.3(OFD1):c.393del (p.Asp132fs)	Pathogenic
1796429	NM_003611.3(OFD1):c.1117_1121del (p.Arg373fs)	Pathogenic
1802535	NM_001011658.4(TRAPPC2):c.137_138del (p.Leu46fs)	Pathogenic
1810698	NM_003611.3(OFD1):c.162_166del (p.Ser54fs)	Pathogenic
1993776	NM_001011658.4(TRAPPC2):c.324+1G>A	Pathogenic
2018821	NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter)	Pathogenic

SpliceAI

4237 predictions. Top by Δscore:

Variant	Effect	Δscore
X:13734867:G:GT	donor_gain	1.0000
X:13734899:G:GT	donor_gain	1.0000
X:13736563:G:GT	donor_gain	1.0000
X:13746314:A:AG	acceptor_gain	1.0000
X:13746315:A:G	acceptor_gain	1.0000
X:13746316:TAGCT:T	acceptor_loss	1.0000
X:13746317:A:AG	acceptor_gain	1.0000
X:13746318:G:GT	acceptor_gain	1.0000
X:13746318:GC:G	acceptor_gain	1.0000
X:13746318:GCT:G	acceptor_gain	1.0000
X:13746318:GCTGA:G	acceptor_gain	1.0000
X:13746452:AAAG:A	donor_gain	1.0000
X:13746453:AAG:A	donor_gain	1.0000
X:13746454:AG:A	donor_gain	1.0000
X:13746454:AGG:A	donor_loss	1.0000
X:13746455:GG:G	donor_gain	1.0000
X:13746455:GGT:G	donor_loss	1.0000
X:13746456:G:GG	donor_gain	1.0000
X:13746457:T:A	donor_loss	1.0000
X:13749423:ACAGA:A	acceptor_loss	1.0000
X:13749424:CA:C	acceptor_loss	1.0000
X:13749425:A:AG	acceptor_gain	1.0000
X:13749425:AGATT:A	acceptor_gain	1.0000
X:13749426:G:GA	acceptor_gain	1.0000
X:13749426:GATT:G	acceptor_gain	1.0000
X:13749426:GATTG:G	acceptor_gain	1.0000
X:13749529:GAATT:G	donor_gain	1.0000
X:13749530:AATT:A	donor_gain	1.0000
X:13749531:ATT:A	donor_gain	1.0000
X:13749531:ATTG:A	donor_loss	1.0000

AlphaMissense

6724 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:13736488:G:C	R41P	0.986
X:13749456:G:C	R286S	0.986
X:13749456:G:T	R286S	0.986
X:13736485:T:C	L40P	0.983
X:13736497:T:C	L44P	0.983
X:13736611:T:C	L82S	0.982
X:13735346:G:C	K37N	0.981
X:13735346:G:T	K37N	0.981
X:13736601:G:C	A79P	0.980
X:13749467:T:C	L290P	0.979
X:13736644:T:A	V93D	0.977
X:13753382:T:C	L357P	0.977
X:13738865:T:C	L111P	0.974
X:13736658:A:C	S98R	0.972
X:13736660:T:A	S98R	0.972
X:13736660:T:G	S98R	0.972
X:13735342:T:C	L36P	0.971
X:13736646:T:C	F94L	0.971
X:13736648:C:A	F94L	0.971
X:13736648:C:G	F94L	0.971
X:13749455:G:C	R286T	0.971
X:13736599:T:A	V78E	0.970
X:13735303:T:C	L23P	0.969
X:13736647:T:C	F94S	0.967
X:13746328:T:C	L176P	0.967
X:13735294:G:C	R20P	0.964
X:13760384:G:C	A642P	0.964
X:13736509:T:C	L48S	0.962
X:13755238:T:C	L406P	0.962
X:13735315:T:C	F27S	0.959

dbSNP variants (sampled 300 via entrez): RS1000033210 (X:13739925 A>C), RS1000042130 (X:13750484 C>T), RS1000051896 (X:13745601 G>C), RS1000055734 (X:13731388 C>A,T), RS1000102813 (X:13751181 AT>A,ATT), RS1000128856 (X:13728836 G>A,T), RS1000167209 (X:13766534 A>G), RS1000304188 (X:13714109 C>T), RS1000407669 (X:13770327 T>C), RS1000426915 (X:13731013 C>A), RS1000447147 (X:13745151 G>A), RS1000515379 (X:13734774 C>A,G,T), RS1000624212 (X:13724498 A>G), RS1000671048 (X:13716368 A>G), RS1000676484 (X:13723817 G>A)

Disease associations

OMIM: gene MIM:300170 | disease phenotypes: MIM:311200, MIM:213300, MIM:300424, MIM:300209, MIM:300804, MIM:244400, MIM:182601, MIM:313400, MIM:610805, MIM:258850, MIM:166710, MIM:213000, MIM:174200, MIM:125310

GenCC curated gene-disease

Disease	Classification	Inheritance
OFD1-related ciliopathy	Definitive	X-linked
Joubert syndrome 10	Definitive	X-linked
orofaciodigital syndrome I	Definitive	X-linked
retinitis pigmentosa 23	Strong	X-linked
primary ciliary dyskinesia	Supportive	Autosomal dominant
orofaciodigital syndrome type 6	Supportive	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant
Simpson-Golabi-Behmel syndrome type 2	Limited	X-linked

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
OFD1-related ciliopathy	Definitive	XL

Mondo (28): orofaciodigital syndrome I (MONDO:0010702), Joubert syndrome (MONDO:0018772), retinitis pigmentosa 23 (MONDO:0010320), Simpson-Golabi-Behmel syndrome type 2 (MONDO:0010265), Joubert syndrome 10 (MONDO:0010431), peripheral precocious puberty (MONDO:0015791), primary ciliary dyskinesia (MONDO:0016575), polymicrogyria (MONDO:0000087), spondyloepiphyseal dysplasia tarda (MONDO:0019667), hereditary spastic paraplegia 4 (MONDO:0008438), spondyloepiphyseal dysplasia tarda, X-linked (MONDO:0010737), connective tissue disorder (MONDO:0003900), inherited retinal dystrophy (MONDO:0019118), intellectual disability (MONDO:0001071), OFD1-related ciliopathy (MONDO:1040039)

Orphanet (22): Orofaciodigital syndrome type 1 (Orphanet:2750), Isolated Joubert syndrome (Orphanet:475), Retinitis pigmentosa (Orphanet:791), Orofaciodigital syndrome type 6 (Orphanet:2754), Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022), Rare peripheral precocious puberty (Orphanet:178040), Primary ciliary dyskinesia (Orphanet:244), Polymicrogyria (Orphanet:35981), Spondyloepiphyseal dysplasia tarda (Orphanet:93284), Autosomal dominant spastic paraplegia type 4 (Orphanet:100985), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Renal or urinary tract malformation (Orphanet:93545), Orofaciodigital syndrome type 3 (Orphanet:2752), Simpson-Golabi-Behmel syndrome (Orphanet:373), Orofaciodigital syndrome (Orphanet:140997)

HPO phenotypes

250 total (30 of 250 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000023	Inguinal hernia
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000104	Renal agenesis
HP:0000113	Polycystic kidney dysplasia
HP:0000119	Abnormality of the genitourinary system
HP:0000126	Hydronephrosis
HP:0000138	Ovarian cyst
HP:0000161	Median cleft upper lip
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000180	Lobulated tongue
HP:0000187	Broad alveolar ridges
HP:0000190	Abnormal oral frenulum morphology
HP:0000191	Accessory oral frenulum
HP:0000199	Tongue nodules
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000271	Abnormality of the face
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry

GWAS associations

0 associations (top):

MeSH disease descriptors (21)

Descriptor	Name	Tree numbers
D046589	CADASIL	C10.228.140.300.150.477.200.100; C10.228.140.300.275.249; C10.228.140.300.400.203; C10.228.140.300.510.200.175; C10.228.140.300.775.200.200.100; C10.228.140.380.230.124; C14.907.253.092.477.200.100; C14.907.253.329.249; C14.907.253.560.200.175; C14.907.253.855.200.200.100; C16.320.129; C23.550.513.355.250.200.100; C23.550.717.489.250.200.100
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D003240	Connective Tissue Diseases	C17.300
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480
D009958	Orofaciodigital Syndromes	C05.116.099.370.652; C05.660.207.700; C16.131.077.676; C16.131.260.830.670; C16.131.621.207.700; C16.320.180.830.670; C16.320.714
D010024	Osteoporosis	C05.116.198.579; C18.452.104.579
D065706	Polymicrogyria	C10.500.507.500.500; C16.131.666.507.500.500
D051437	Renal Insufficiency	C12.050.351.968.419.780; C12.200.777.419.780; C12.950.419.780
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C536430	COACH syndrome (supp.)
C566906	Cakut (supp.)
C562568	Cerebellar Hypoplasia (supp.)
C567582	Joubert Syndrome 10 (supp.)
C557817	Orofaciodigital syndrome 3 (supp.)
C536531	Orofaciodigital syndrome 6 (supp.)
C537134	Orofaciodigital syndrome type1 (supp.)
C564567	Simpson-Golabi-Behmel Syndrome, Type 2 (supp.)
C537340	Simpson-Golabi-Behmel syndrome (supp.)
C536865	Spastic paraplegia 4, autosomal dominant (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	3
sodium arsenite	decreases expression, affects expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
trichostatin A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
coumarin	affects phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Caffeine	affects phosphorylation	1
Diuron	decreases expression	1
Formaldehyde	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9LU	Ubigene HEK293 OFD1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

410 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04197050	PHASE4	UNKNOWN	Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00864201	PHASE3	UNKNOWN	A Study to Evaluate the Use of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease
NCT01196091	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01205438	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01488708	PHASE3	TERMINATED	On Open-Label Study in Participants With Systemic Lupus Erythematosus
NCT03626688	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of Ralinepag to Improve Treatment Outcomes in PAH Patients
NCT03683186	PHASE3	ENROLLING_BY_INVITATION	A Study Evaluating the Long-Term Efficacy and Safety of Ralinepag in Subjects With PAH Via an Open-Label Extension
NCT04084678	PHASE3	TERMINATED	A Study of Ralinepag to Evaluate Effects on Exercise Capacity by CPET in Subjects With WHO Group 1 PH
NCT06716606	PHASE3	RECRUITING	A Study to Investigate the Long-term Safety and Efficacy of Belimumab in Adults With Interstitial Lung Disease (ILD) Associated With Systemic Sclerosis (SSc) and Other Connective Tissue Diseases (CTD) (BLISSconneCTD-OLE)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema