BMP3

Summary

BMP3 (bone morphogenetic protein 3, HGNC:1070) is a protein-coding gene on chromosome 4q21.21, encoding Bone morphogenetic protein 3 (P12645). Growth factor of the TGF-beta superfamily that plays an essential role in developmental process by inducing and patterning early skeletal formation and by negatively regulating bone density.

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands.

Source: NCBI Gene 651 — RefSeq curated summary.

At a glance

• Gene–disease (curated): coloboma (Moderate, GenCC)
• GWAS associations: 12
• Clinical variants (ClinVar): 83 total
• MANE Select transcript: NM_001201

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1070
Approved symbol	BMP3
Name	bone morphogenetic protein 3
Location	4q21.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000152785
Ensembl biotype	protein_coding
OMIM	112263
Entrez	651

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000282701, ENST00000909109

RefSeq mRNA: 1 — MANE Select: NM_001201 NM_001201

CCDS: CCDS3588

Canonical transcript exons

ENST00000282701 — 3 exons

Exon	Start	End
ENSE00001007113	81030708	81031600
ENSE00001007115	81045738	81046648
ENSE00001549055	81053345	81057627

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 79.85.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4027 / max 28.5608, expressed in 129 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48540	0.1753	71
48539	0.1668	69
48538	0.0606	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
muscle layer of sigmoid colon	UBERON:0035805	79.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.20	gold quality
rectum	UBERON:0001052	77.84	gold quality
transverse colon	UBERON:0001157	76.66	gold quality
mucosa of transverse colon	UBERON:0004991	74.15	gold quality
sigmoid colon	UBERON:0001159	73.32	gold quality
colon	UBERON:0001155	73.07	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.57	gold quality
lower esophagus	UBERON:0013473	72.41	gold quality
large intestine	UBERON:0000059	72.16	gold quality
intestine	UBERON:0000160	71.39	gold quality
tibial nerve	UBERON:0001323	70.93	gold quality
small intestine Peyer’s patch	UBERON:0003454	70.61	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	69.25	gold quality
small intestine	UBERON:0002108	68.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	67.82	gold quality
palpebral conjunctiva	UBERON:0001812	67.08	silver quality
gall bladder	UBERON:0002110	65.41	gold quality
colonic epithelium	UBERON:0000397	64.85	gold quality
ileal mucosa	UBERON:0000331	62.47	silver quality
cortical plate	UBERON:0005343	61.54	gold quality
right uterine tube	UBERON:0001302	61.28	gold quality
pancreatic ductal cell	CL:0002079	59.81	silver quality
duodenum	UBERON:0002114	59.68	gold quality
ganglionic eminence	UBERON:0004023	59.33	gold quality
minor salivary gland	UBERON:0001830	58.63	gold quality
urinary bladder	UBERON:0001255	58.46	gold quality
bone marrow cell	CL:0002092	58.09	silver quality
left ovary	UBERON:0002119	56.65	gold quality
decidua	UBERON:0002450	56.55	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

222 targeting BMP3, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3662	99.99	73.82	5684

Literature-anchored findings (GeneRIF, showing 19)

• The expression signals of BMP3 mRNA in malignant schwannoma were relatively lower than in benign lesions (PMID:11642720)
• BMP-3 receptor specificity is controlled by the interaction of Lys-30 of BMP-3 with Glu-76 of ActRIIb (PMID:17924656)
• BMP3 silencing is an early and frequent event in colorectal tumors progressing via the serrated and traditional pathways. (PMID:18311777)
• These results demonstrate that BMP-3 stimulates mesenchymal stem cell proliferation via the TGF-beta/activin signaling pathway. (PMID:20143330)
• Data suggest that promotor region methylation of the BMP3 gene may cause gastric carcinoma in Chinese people. (PMID:20238409)
• Features supportive of positive selection in the BMP3 gene were found including the presence of an excess of nonsynonymous mutations in modern humans, and a significantly lower genetic diversity that deviates from neutrality (PMID:20532035)
• Circulating bone morphogenetic protein 1-3 isoform increases renal fibrosis. (PMID:21415150)
• a critical link between HNF1A-MODY-induced alterations in Bmp-3 expression and insulin gene levels (PMID:21628466)
• As an addition to PRKG2 and RASGEFIB genes, we propose to include BMP3 gene as the principal determinant of the observed common phenotype. (PMID:22303795)
• Bone morphogenic protein 3 signaling in the regulation of osteogenesis. (PMID:23127436)
• Methylation level in stool decreases dramatically following colorectal cancer resection (PMID:24993691)
• BMP3 - the biomarker of a currently in-use multi-target stool DNA test was commonly expressed in tumor tissue specimens, independent of Fecal Immunochemical Test result. (PMID:28044229)
• a novel microRNA miR-450b was essential for adipose-derived mesenchymal stem cell differentiation, which could promote osteogenic differentiation in vitro and enhance bone formation in vivo by directly suppressing BMP3. (PMID:29649414)
• This study demonstrated that there was a significantly higher frequency of BMP3 methylated DNA in plasma in patients with polyps versus healthy controls with a sensitivity and specificity of 40 and 94%, respectively. (PMID:29892846)
• Results found that BMP3 gene was extensively hypermethylated and downregulated in colorectal cancer (CRC) and suggest that BMP3 acts as a tumor suppressor or has a growth rate-limiting role in CRC development and progression. (PMID:31665064)
• Inhibition of BMP3 increases the inflammatory response of fibroblast-like synoviocytes in rheumatoid arthritis. (PMID:32568738)
• USF2 reduces BMP3 expression via transcriptional activation of miR-34a, thus promoting osteogenic differentiation of BMSCs. (PMID:34350522)
• LncRNA SNHG3 regulates the BMSC osteogenic differentiation in bone metastasis of breast cancer by modulating the miR-1273g-3p/BMP3 axis. (PMID:35081500)
• Overexpression of lncRNA A2M-AS1 inhibits cell growth and aggressiveness via regulating the miR-587/bone morphogenetic protein 3 axis in lung adenocarcinoma. (PMID:36461613)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	bmp3	ENSDARG00000060526
mus_musculus	Bmp3	ENSMUSG00000029335
rattus_norvegicus	Bmp3	ENSRNOG00000002381

Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)

Protein

Protein identifiers

Bone morphogenetic protein 3 — P12645 (reviewed: P12645)

Alternative names: Bone morphogenetic protein 3A, Osteogenin

All UniProt accessions (1): P12645

UniProt curated annotations — full annotation on UniProt →

Function. Growth factor of the TGF-beta superfamily that plays an essential role in developmental process by inducing and patterning early skeletal formation and by negatively regulating bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentiation and ossification. Initiates signaling cascades by associating with type II receptor ACVR2B to activate SMAD2-dependent and SMAD-independent signaling cascades including TAK1 and JNK pathways.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with type II receptor ACVR2B.

Subcellular location. Secreted.

Tissue specificity. Expressed in adult and fetal cartilage.

Induction. Highly expressed in fracture tissue, particularly in osteoblasts, osteoclasts and chondroblasts.

Similarity. Belongs to the TGF-beta family.

RefSeq proteins (1): NP_001192* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001839	TGF-b_C	Domain
IPR015615	TGF-beta-like	Family
IPR017197	BMP3/BMP3B	Family
IPR017948	TGFb_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily

Pfam: PF00019

UniProt features (34 total): strand 9, glycosylation site 5, sequence variant 5, disulfide bond 4, turn 2, helix 2, region of interest 2, compositionally biased region 2, signal peptide 1, propeptide 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2QCQ	X-RAY DIFFRACTION	2.21

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12645-F1	65.11	0.24

Functional residue map

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

Disulfide bonds (4): 370–437, 399–469, 403–471, 436

Glycosylation sites (5): 220, 463, 117, 141, 175

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 143 (showing top): RNGTGGGC_UNKNOWN, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_OSTEOBLAST_DIFFERENTIATION, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_CELL_CELL_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_OSSIFICATION, GOMF_CYTOKINE_ACTIVITY, SABATES_COLORECTAL_ADENOMA_DN, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_OSSIFICATION, GOMF_SIGNALING_RECEPTOR_BINDING

GO Biological Process (9): skeletal system development (GO:0001501), osteoblast differentiation (GO:0001649), cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178), cell-cell signaling (GO:0007267), negative regulation of ossification (GO:0030279), positive regulation of transcription by RNA polymerase II (GO:0045944), cartilage development (GO:0051216), ossification (GO:0001503), cell differentiation (GO:0030154)

GO Molecular Function (4): signaling receptor binding (GO:0005102), cytokine activity (GO:0005125), growth factor activity (GO:0008083), BMP receptor binding (GO:0070700)

GO Cellular Component (3): obsolete extracellular space (GO:0005615), extracellular exosome (GO:0070062), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ossification	2
receptor ligand activity	2
system development	1
cell differentiation	1
enzyme-linked receptor protein signaling pathway	1
cell communication	1
signaling	1
regulation of ossification	1
negative regulation of multicellular organismal process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
skeletal system development	1
animal organ development	1
connective tissue development	1
multicellular organismal process	1
cellular developmental process	1
protein binding	1
transmembrane receptor protein serine/threonine kinase binding	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1278 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BMP3	ACVR2B	Q13705	887
BMP3	NDRG4	Q9ULP0	840
BMP3	AMBN	Q9NP70	779
BMP3	ACVR2A	P27037	726
BMP3	TFPI2	P48307	695
BMP3	BMPR1B	P78366	691
BMP3	IBSP	P21815	677
BMP3	BMPR1A	P36894	670
BMP3	BMPR2	Q13873	635
BMP3	SMAD4	Q13485	626
BMP3	SEPTIN9	Q9UHD8	620
BMP3	BMP1	P13497	615
BMP3	SPP1	P10451	609
BMP3	VIM	P08670	575
BMP3	FST	P19883	574

IntAct

6 interactions, top by confidence:

A	B	Type	Score
BMP3	WFIKKN1	psi-mi:“MI:0407”(direct interaction)	0.440
BMP3	WFIKKN2	psi-mi:“MI:0407”(direct interaction)	0.440
BMP2K	BMP3	psi-mi:“MI:0915”(physical association)	0.370
BMP3	KDM1A	psi-mi:“MI:0915”(physical association)	0.370
BMP3	PRMT6	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (4): BMP3 (Affinity Capture-MS), YBX3 (Cross-Linking-MS (XL-MS)), KDM1A (Two-hybrid), PRMT6 (Two-hybrid)

ESM2 similar proteins: A2VDJ0, A9CB18, O13048, O18752, O18753, O60383, O70183, O77681, O95813, O95972, P09529, P12645, P14082, P17491, P20722, P21237, P22003, P22004, P22444, P23363, P25429, P27093, P49002, P49003, Q04906, Q04999, Q07105, Q08DV9, Q0EAB7, Q28GB8, Q3SAT7, Q3U3D7, Q66NC0, Q6PX77, Q7T2X6, Q7T2X7, Q7YRB4, Q800B9, Q8BHE5, Q8QG74

Diamond homologs: A1C2U3, A1C2U6, A1C2U7, A1C2V0, A1C2V5, A8E7N9, G5EEL5, O08689, O14793, O18828, O18830, O18831, O18836, O35312, O42220, O42221, O42222, O46576, O61643, O95390, O95393, P09534, P12644, P12645, P17491, P18075, P20722, P20863, P22003, P22004, P22444, P23359, P27091, P27539, P35621, P43026, P43027, P43028, P43029, P48970

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

476 predictions. Top by Δscore:

Variant	Effect	Δscore
4:81045733:CCTAG:C	acceptor_loss	1.0000
4:81045734:CTA:C	acceptor_loss	1.0000
4:81045735:TAG:T	acceptor_loss	1.0000
4:81045736:A:AG	acceptor_gain	1.0000
4:81045736:A:T	acceptor_loss	1.0000
4:81045737:G:GG	acceptor_gain	1.0000
4:81045737:GAA:G	acceptor_gain	1.0000
4:81045737:GAAA:G	acceptor_gain	1.0000
4:81031597:GCAG:G	donor_gain	0.9900
4:81031598:CAG:C	donor_loss	0.9900
4:81031599:AGG:A	donor_loss	0.9900
4:81031600:GGTG:G	donor_loss	0.9900
4:81045737:GA:G	acceptor_gain	0.9900
4:81045737:GAAAC:G	acceptor_gain	0.9900
4:81053453:A:AG	donor_gain	0.9900
4:81053454:G:GG	donor_gain	0.9900
4:81031603:GAGT:G	donor_loss	0.9800
4:81031601:G:GG	donor_gain	0.9600
4:81045735:TAGAA:T	acceptor_gain	0.9600
4:81045736:AGAAA:A	acceptor_gain	0.9600
4:81053343:A:AG	acceptor_gain	0.9600
4:81053344:G:GG	acceptor_gain	0.9600
4:81045734:CTAG:C	acceptor_gain	0.9500
4:81045733:CCTA:C	acceptor_gain	0.9300
4:81045732:TCCTA:T	acceptor_gain	0.9200
4:81045737:G:T	acceptor_gain	0.9100
4:81045739:A:AG	acceptor_gain	0.9000
4:81045740:A:G	acceptor_gain	0.8700
4:81046497:C:T	donor_gain	0.8700
4:81053484:T:TA	donor_gain	0.8700

AlphaMissense

3083 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:81046618:C:G	C399W	1.000
4:81046545:T:C	L375P	0.999
4:81046556:T:C	F379L	0.999
4:81046557:T:G	F379C	0.999
4:81046558:T:A	F379L	0.999
4:81046558:T:G	F379L	0.999
4:81046573:G:C	W384C	0.999
4:81046573:G:T	W384C	0.999
4:81046616:T:A	C399S	0.999
4:81046616:T:C	C399R	0.999
4:81046617:G:A	C399Y	0.999
4:81046617:G:C	C399S	0.999
4:81046628:T:C	C403R	0.999
4:81046629:G:A	C403Y	0.999
4:81046634:T:C	F405L	0.999
4:81046635:T:G	F405C	0.999
4:81046636:C:A	F405L	0.999
4:81046636:C:G	F405L	0.999
4:81053426:T:A	C437S	0.999
4:81053426:T:C	C437R	0.999
4:81053427:G:A	C437Y	0.999
4:81053427:G:C	C437S	0.999
4:81053428:T:G	C437W	0.999
4:81053523:G:A	C469Y	0.999
4:81053524:C:G	C469W	0.999
4:81053528:T:C	C471R	0.999
4:81046529:T:A	C370S	0.998
4:81046529:T:C	C370R	0.998
4:81046530:G:A	C370Y	0.998
4:81046530:G:C	C370S	0.998

dbSNP variants (sampled 300 via entrez): RS1000156707 (4:81043278 C>T), RS10002189 (4:81040543 A>C), RS1000572561 (4:81034006 T>A,C), RS10005851 (4:81050816 C>A,G), RS1000591139 (4:81040647 A>G), RS1000622284 (4:81040849 C>A,T), RS1000641037 (4:81032660 G>T), RS1000693240 (4:81039642 T>A), RS10007784 (4:81056536 C>A,G,T), RS1000800991 (4:81044363 T>A,C,G), RS1000814869 (4:81045252 A>G), RS1000901850 (4:81051488 CAG>C), RS1001314165 (4:81044143 T>C), RS1001507304 (4:81034282 A>G), RS1001657466 (4:81033737 A>G)

Disease associations

OMIM: gene MIM:112263 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
coloboma	Moderate	Autosomal dominant

Mondo (1): coloboma (MONDO:0001476)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000175_43	Height	2.000000e-06
GCST001858_10	Refractive error	1.000000e-06
GCST001876_7	Pubertal anthropometrics	1.000000e-07
GCST003997_27	Myopia	2.000000e-23
GCST006291_140	Spherical equivalent or myopia (age of diagnosis)	6.000000e-21
GCST007159_3	Corneal astigmatism	1.000000e-06
GCST007160_11	Refractive astigmatism	3.000000e-06
GCST009462_55	Optic disc size	2.000000e-19
GCST009959_24	Retinal detachment or retinal break	2.000000e-07
GCST010002_9	Refractive error	2.000000e-65
GCST012400_40	Low myopia vs hyperopia	1.000000e-09
GCST90014268_14	Cataracts	3.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0001382	puberty
EFO:0004847	age at onset
EFO:1002040	Corneal astigmatism
EFO:0010698	retinal break

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, increases expression	2
ethyl-p-hydroxybenzoate	increases expression	1
monomethylarsonous acid	increases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Lead	affects methylation	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1
Zearalenone	decreases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00368004	Not specified	TERMINATED	Family Studies of Uveal Coloboma
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT04833361	Not specified	COMPLETED	Potential Environmental Causes of Uveal Coloboma
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children