ROR2

Summary

ROR2 (receptor tyrosine kinase like orphan receptor 2, HGNC:10257) is a protein-coding gene on chromosome 9q22.31, encoding Tyrosine-protein kinase transmembrane receptor ROR2 (Q01974). Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes.

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.

Source: NCBI Gene 4920 — RefSeq curated summary.

At a glance

• Gene–disease (curated): brachydactyly type B1 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 923 total — 37 pathogenic, 29 likely-pathogenic
• Phenotypes (HPO): 155
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_004560

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10257
Approved symbol	ROR2
Name	receptor tyrosine kinase like orphan receptor 2
Location	9q22.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169071
Ensembl biotype	protein_coding
OMIM	602337
Entrez	4920

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000375708, ENST00000375715, ENST00000476440, ENST00000493846, ENST00000495386, ENST00000546883, ENST00000548585, ENST00000550066, ENST00000912486, ENST00000912487, ENST00000964760

RefSeq mRNA: 2 — MANE Select: NM_004560 NM_001318204, NM_004560

CCDS: CCDS6691

Canonical transcript exons

ENST00000375708 — 9 exons

Exon	Start	End
ENSE00001468090	91722601	91725107
ENSE00001468100	91949867	91950228
ENSE00003475771	91756071	91756101
ENSE00003540333	91737391	91737518
ENSE00003570922	91757272	91757559
ENSE00003663788	91726541	91726743
ENSE00003669690	91775741	91775818
ENSE00003675079	91730910	91731155
ENSE00003678701	91733122	91733436

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 90.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.7143 / max 177.8652, expressed in 933 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101395	4.1983	791
101396	2.7375	703
101394	0.3216	171
101393	0.1877	79
101397	0.1515	71
101392	0.1177	54

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
muscle layer of sigmoid colon	UBERON:0035805	90.93	gold quality
mucosa of stomach	UBERON:0001199	89.14	gold quality
body of uterus	UBERON:0009853	87.90	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	87.58	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.44	gold quality
lower esophagus	UBERON:0013473	87.41	gold quality
endocervix	UBERON:0000458	86.62	gold quality
ectocervix	UBERON:0012249	84.90	gold quality
sigmoid colon	UBERON:0001159	84.11	gold quality
right ovary	UBERON:0002118	83.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.49	gold quality
left uterine tube	UBERON:0001303	83.36	gold quality
right atrium auricular region	UBERON:0006631	83.19	gold quality
left ovary	UBERON:0002119	83.01	gold quality
cardiac atrium	UBERON:0002081	82.15	gold quality
smooth muscle tissue	UBERON:0001135	81.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.89	gold quality
myometrium	UBERON:0001296	81.74	gold quality
gall bladder	UBERON:0002110	81.53	gold quality
prostate gland	UBERON:0002367	80.60	gold quality
decidua	UBERON:0002450	80.56	gold quality
ovary	UBERON:0000992	80.32	gold quality
body of stomach	UBERON:0001161	79.35	gold quality
fundus of stomach	UBERON:0001160	79.09	gold quality
stomach	UBERON:0000945	78.82	gold quality
cartilage tissue	UBERON:0002418	78.24	gold quality
tibia	UBERON:0000979	78.20	gold quality
esophagus	UBERON:0001043	78.13	gold quality
uterus	UBERON:0000995	78.04	gold quality
urinary bladder	UBERON:0001255	77.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting ROR2, 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-499A-5P	99.98	70.79	1323
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-197-5P	97.23	68.10	596
HSA-MIR-3622B-5P	94.62	64.58	835

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• Heterozygous mutations in ROR2 have recently been shown to give rise to autosomal dominant brachydactyly type B1 (BDB1). (PMID:12815588)
• ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. (PMID:12919145)
• identification of human Ror2 as a novel regulator of canonical Wnt signaling in osteoblastic (bone-forming) cells with selective activities, enhancing Wnt1 but antagonizing Wnt3 (PMID:15388793)
• The ROR2 protein modulates the growth of neurites as well as their branching pattern in hippocampal neurons. (PMID:15654020)
• Ror2 initiates commitment of MSCs to osteoblastic lineage and promotes differentiation at early and late stages of osteoblastogenesis. (PMID:17095577)
• Brachydactyly type B1: report of a family with de novo ROR2 mutation. (PMID:17101003)
• The region of the first through the second ROR2 introns is most likely to contain the functional polymorphism/s responsible for hand bone length and BMD. (PMID:17619808)
• The clustering of Robinow-causing mutations in the extracellular frizzled-like cysteine-rich domain of ROR2 suggests a stringent requirement for the correct folding of the domain before export of ROR2 from the endoplasmic reticulum to the plasma membrane. (PMID:17665217)
• Ror2 induces osteogenic differentiation, at least in part, through a release of the 14-3-3beta-mediated inhibition (PMID:17717073)
• In this study, we showed for the first time the connection of ROR2 in Dupuytren’s disease (PMID:17996904)
• Ror2 positively modulates Wnt3a-activated canonical signaling in a lung carcinoma, H441 cell line. This activity of Ror2 is dependent on cooperative interactions with Fzd2 but not Fzd7. (PMID:18215320)
• Activation via tyrosine phosphorylation of ROR2 receptor leads to its internalisation into Rab5 positive endosomes. These findings show that BDB mutant receptors are defective in kinase activation as a result of failure to recruit Src (PMID:18365018)
• both Wnt5a and Wnt3a bound Ror2, only Wnt5a induced Ror2 homo-dimerization and tyrosine phosphorylation in U2OS human osteoblastic cells. (PMID:18615587)
• Stimulation of epithelia by the CaSR increased the expression of the tyrosine kinase Ror2, suggesting existence of a unique paracrine relationship for CDX2 homoeostasis in the intestine. (PMID:18703641)
• clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing (PMID:18831060)
• the interaction of Ror2 with BRIb is specific and independent of post-translational N-glycosylation. (PMID:19135982)
• Expression of MMP2 in RCC cells was suppressed by Ror2 knockdown, placing Ror2 as a mediator of MMP2 regulation in RCC and a potential regulator of extracellular matrix remodeling. (PMID:19448672)
• The deletion represents the second ROR2 mutation associated with a autosomal dominant brachydactyly type B1-syndactyly phenotype. (PMID:19461659)
• Distal symphalangism affecting only 4th finger with ROR2 mutation. (PMID:19533773)
• Results indicate that Wnt5a/Ror2 signaling involves the activation of a SFK, leading to MMP-13 expression, and that constitutively active Wnt5a/Ror2 signaling confers invasive properties on osteosarcoma cells in a cell-autonomous manner. (PMID:19561643)
• Data showed a correlation between the severity of BDB1, the location of the mutation, and the amount of membrane-associated ROR2. (PMID:19640924)
• Data show that ROR2 knockdown results in a decrease in signaling downstream of Wnt5A. (PMID:19802008)
• a unique regulation pattern for Ror2 in the VHL-HIF axis that has the potential to be applied to other cancer etiologies. (PMID:20185829)
• data show the importance of epigenetic alterations of ROR2 in colon cancer, highlighting the close interconnection between canonical and non-canonical Wnt signalling pathways in this type of tumour (PMID:20591152)
• Results suggest that Wnt5a plays the role of a tumor suppressor in leukemogenesis through the Wnt5a/Ror2 noncanonical signaling pathway that inhibits Wnt canonical signaling. (PMID:21069266)
• Results show expression of Wnt5a and Ror2 is induced during Snail-mediated epithelial-mesenchymal transition or malignant progression of cancer cells and that activated Wnt5a-Ror2 signaling confers highly motile and invasive properties on cancer cells. (PMID:21342370)
• 2265C>A mutation in ROR2 gene is associated with Brachydactyly type B1 in Chinese family. (PMID:21377971)
• We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, involving 30 genes including the ROR2 gene and and SYK gene. (PMID:21693067)
• The present study provides evidence of the significant association between ROR2 variants and the OPG/RANKL ratio in human plasma and also suggests ROR2 association with hand osteoarthritis. (PMID:22057548)
• Wnt5a-Ror2 signaling might also be required for expression of MMP-13 gene during the development of the cartilaginous tissue. (PMID:22128168)
• Molecular analysis of the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome revealed the presence of a previously undescribed missense mutation: p.R272C (c.814C>T), in the cysteine-rich domain of the protein. (PMID:22178368)
• WNT-5a and ROR2 were more highly expressed in more severe disease states, and therefore may play a coordinated role in the occurrence and progression of osteosarcoma (PMID:22293903)
• Results show that ROR2 is a useful prognostic indicator in the clinical management of these soft-tissue sarcomas and may represent a novel therapeutic target. (PMID:22294416)
• Results provided evidence of linkage and association between the ROR2 gene and a gene controlling risk to non-syndromic cleft palate. (PMID:22490406)
• Data suggest that Wnt5a and Ror2 may serve as tumor suppressor genes in the development of hepatocellular carcinoma, and may serve as clinicopathologic biomarkers for prognosis in HCC patients. (PMID:22493546)
• High ROR2 expression is involved in the pathophysiology of Multiple myeloma-induced bone disease. (PMID:22781592)
• ROR2 expression was not seen in any of the hematological malignancies studied. (PMID:22988987)
• The unusual Asp-Leu-Gly motif in Ror2 is displaced compared with other inactive kinases, allowing the activation loop to interact directly with the tyrosine kinase domains. (PMID:22992069)
• review will explore the dual role of ROR2 in tumorigenesis and provide an up to date analysis of current literature in this rapidly expanding field (PMID:23233346)
• Sequence analysis of the gene ROR2 indicated a nonsense mutation (c.2278C>T, p.Q760X) in exon 9 in all brachydactyly type B affected individuals of the family. (PMID:23238279)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ror2	ENSDARG00000076227
mus_musculus	Ror2	ENSMUSG00000021464
rattus_norvegicus	Ror2	ENSRNOG00000053232

Paralogs (53): INSRR (ENSG00000027644), MUSK (ENSG00000030304), FLT4 (ENSG00000037280), EPHA3 (ENSG00000044524), ROS1 (ENSG00000047936), LTK (ENSG00000062524), ERBB3 (ENSG00000065361), TIE1 (ENSG00000066056), FGFR2 (ENSG00000066468), FGFR3 (ENSG00000068078), EPHA8 (ENSG00000070886), FGFR1 (ENSG00000077782), EPHA6 (ENSG00000080224), TYRO3 (ENSG00000092445), FLT1 (ENSG00000102755), MET (ENSG00000105976), EPHB6 (ENSG00000106123), PDGFRB (ENSG00000113721), EPHA4 (ENSG00000116106), TEK (ENSG00000120156), FLT3 (ENSG00000122025), KDR (ENSG00000128052), EPHB2 (ENSG00000133216), PDGFRA (ENSG00000134853), EPHA7 (ENSG00000135333), IGF1R (ENSG00000140443), NTRK3 (ENSG00000140538), ERBB2 (ENSG00000141736), EPHA2 (ENSG00000142627), EPHA5 (ENSG00000145242), EGFR (ENSG00000146648), EPHA1 (ENSG00000146904), NTRK2 (ENSG00000148053), MERTK (ENSG00000153208), EPHB1 (ENSG00000154928), KIT (ENSG00000157404), FGFR4 (ENSG00000160867), DDR2 (ENSG00000162733), RYK (ENSG00000163785), MST1R (ENSG00000164078)

Protein

Protein identifiers

Tyrosine-protein kinase transmembrane receptor ROR2 — Q01974 (reviewed: Q01974)

Alternative names: Neurotrophic tyrosine kinase, receptor-related 2

All UniProt accessions (2): Q01974, B1APY4

UniProt curated annotations — full annotation on UniProt →

Function. Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development. Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation. In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling.

Subunit / interactions. Homodimer; promotes osteogenesis. Binds YWHAB. Interacts with WTIP. Interacts with ROR2.

Subcellular location. Cell membrane.

Disease relevance. Brachydactyly B1 (BDB1) [MIM:113000] A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature. The disease is caused by variants affecting the gene represented in this entry. Robinow syndrome, autosomal recessive 1 (RRS1) [MIM:268310] A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.

RefSeq proteins (2): NP_001305133, NP_004551* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000001	Kringle	Domain
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR008266	Tyr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR013806	Kringle-like	Homologous_superfamily
IPR016247	Tyr_kinase_rcpt_ROR	Family
IPR018056	Kringle_CS	Conserved_site
IPR020067	Frizzled_dom	Domain
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR036790	Frizzled_dom_sf	Homologous_superfamily
IPR038178	Kringle_sf	Homologous_superfamily
IPR050122	RTK	Family

Pfam: PF00051, PF01392, PF07679, PF07714

Enzyme classification (BRENDA):

• EC 2.7.10.1 — receptor protein-tyrosine kinase (BRENDA: 44 organisms, 214 substrates, 574 inhibitors, 11 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0011–0.129	4
AC-DYFE-6-CHLORO-W-NHME	0.0051	1
AC-DYFGW-NHME	0.07	1
YFEW	0.232	1

Catalyzed reactions (Rhea), 1 shown:

• L-tyrosyl-[protein] + ATP = O-phospho-L-tyrosyl-[protein] + ADP + H(+) (RHEA:10596)

UniProt features (100 total): helix 26, sequence variant 20, strand 16, disulfide bond 9, modified residue 4, domain 4, turn 4, compositionally biased region 3, glycosylation site 3, region of interest 2, binding site 2, topological domain 2, signal peptide 1, chain 1, active site 1, transmembrane region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
6OSN	X-RAY DIFFRACTION	1.08
6OSH	X-RAY DIFFRACTION	1.12
6OSV	X-RAY DIFFRACTION	1.34
4GT4	X-RAY DIFFRACTION	2.41
9FSE	X-RAY DIFFRACTION	2.48
3ZZW	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01974-F1	69.09	0.23

Antibody-complex structures (SAbDab): 2 — 6OSH, 6OSV

Functional residue map

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

Catalytic / active sites (1): 615 (proton acceptor)

Ligand- & substrate-binding residues (2): 479–487; 507

Post-translational modifications (4): 469, 471, 646, 785

Disulfide bonds (9): 83–135, 174–239, 182–232, 223–264, 252–300, 256–286, 316–394, 337–377, 365–389

Glycosylation sites (3): 70, 188, 318

Mutagenesis-validated functional residues (1):

Position	Phenotype
482	slight increase in kinase activity.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-4086400	PCP/CE pathway
R-HSA-5140745	WNT5A-dependent internalization of FZD2, FZD5 and ROR2
R-HSA-162582	Signal Transduction
R-HSA-195721	Signaling by WNT
R-HSA-3858494	Beta-catenin independent WNT signaling

MSigDB gene sets: 493 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, MODULE_64, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, MORF_RAD51L3, MODULE_70, GTGCCTT_MIR506, KRASNOSELSKAYA_ILF3_TARGETS_DN, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_2_UP, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, GOCC_COATED_VESICLE, MORF_IL4, DELYS_THYROID_CANCER_DN, GOMF_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY, chr9q22, GOCC_NEURON_PROJECTION

GO Biological Process (5): signal transduction (GO:0007165), cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), Wnt signaling pathway (GO:0016055), positive regulation of cell migration (GO:0030335), protein phosphorylation (GO:0006468)

GO Molecular Function (12): transmembrane receptor protein tyrosine kinase activity (GO:0004714), ATP binding (GO:0005524), coreceptor activity (GO:0015026), Wnt-protein binding (GO:0017147), mitogen-activated protein kinase kinase kinase binding (GO:0031435), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein tyrosine kinase activity (GO:0004713), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (5): plasma membrane (GO:0005886), axon (GO:0030424), clathrin-coated endocytic vesicle membrane (GO:0030669), signaling receptor complex (GO:0043235), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Beta-catenin independent WNT signaling	1
PCP/CE pathway	1
Signal Transduction	1
Signaling by WNT	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
enzyme-linked receptor protein signaling pathway	1
cell surface receptor signaling pathway	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
phosphorylation	1
protein modification process	1
protein tyrosine kinase activity	1
transmembrane receptor protein kinase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
signaling receptor activity	1
protein binding	1
protein kinase binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
protein kinase activity	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
membrane	1
cell periphery	1
neuron projection	1
clathrin-coated vesicle membrane	1
endocytic vesicle membrane	1
clathrin-coated endocytic vesicle	1
protein-containing complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ROR2	WNT5A	P41221	994
ROR2	WNT11	O96014	853
ROR2	FZD1	Q9UP38	703
ROR2	NOG	Q13253	617
ROR2	WNT7A	O00755	616
ROR2	WNT8A	Q9H1J5	541
ROR2	GDF5	P43026	538
ROR2	CTNNB1	P35222	520
ROR2	DVL1	O14640	518
ROR2	FZD2	Q14332	517
ROR2	LRP5	O75197	514
ROR2	WNT4	P56705	492
ROR2	FZD5	Q13467	471
ROR2	WNT3A	P56704	464
ROR2	VANGL2	Q9ULK5	459

IntAct

202 interactions, top by confidence:

A	B	Type	Score
ROR2	CRX	psi-mi:“MI:0915”(physical association)	0.670
CRX	ROR2	psi-mi:“MI:0915”(physical association)	0.670
FZD7	LRP6	psi-mi:“MI:2364”(proximity)	0.620
FZD7	LRP6	psi-mi:“MI:0914”(association)	0.620
ROR2	KRTAP19-7	psi-mi:“MI:0915”(physical association)	0.560
VENTX	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ISX	ROR2	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ROR2	ALG13	psi-mi:“MI:0915”(physical association)	0.560
ROR2	C1orf94	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ROR2	POU2AF1	psi-mi:“MI:0915”(physical association)	0.560
SOX14	ROR2	psi-mi:“MI:0915”(physical association)	0.560
FOSB	ROR2	psi-mi:“MI:0915”(physical association)	0.560
	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ROR2	DAZAP2	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ROR2	ARID5A	psi-mi:“MI:0915”(physical association)	0.560
PITX1	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ROR2	CREM	psi-mi:“MI:0915”(physical association)	0.560
ROR2	KRTAP6-2	psi-mi:“MI:0915”(physical association)	0.560
MSX2	ROR2	psi-mi:“MI:0915”(physical association)	0.560
FAM168B	ROR2	psi-mi:“MI:0915”(physical association)	0.560
PLA2G10	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ROR2	LHX6	psi-mi:“MI:0915”(physical association)	0.560
TLX3	ROR2	psi-mi:“MI:0915”(physical association)	0.560
ROR2	ACTMAP	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (377): ROR2 (Two-hybrid), ROR2 (Two-hybrid), ROR2 (Two-hybrid), ZMYM4 (Two-hybrid), DAZAP2 (Two-hybrid), RBPMS (Two-hybrid), C1orf94 (Two-hybrid), PRR20A (Two-hybrid), ROR2 (Affinity Capture-RNA), ROR2 (Affinity Capture-RNA), ROR2 (Affinity Capture-MS), ROR2 (Proximity Label-MS), ROR2 (Proximity Label-MS), PPP3CB (Two-hybrid), PPM1A (Two-hybrid)

ESM2 similar proteins: A1XQX1, A1XQX3, A1XQY0, A8WGA3, C6K2K4, D0PRN2, D0PRN4, D4A1J9, E9PUN2, O13097, O42596, O73612, O73874, P0DI97, P52795, P52796, P58400, P58401, P98172, Q01974, Q0PMD2, Q17QD6, Q28142, Q28143, Q460M5, Q63373, Q63376, Q6NW40, Q6PCX7, Q6PFE7, Q7TQ33, Q80TG9, Q8BNJ6, Q8BXA0, Q8C985, Q8IYR6, Q8NC67, Q91590, Q96B86, Q96NI6

Diamond homologs: A0A0K3AV08, A7J1T0, A7J1T2, A7MBB4, A8X775, D3ZG83, G5EE56, H2KZW3, O01700, O19064, O22558, O43283, O54967, O60674, P00529, P00533, P00534, P00535, P03949, P04412, P06239, P06240, P08069, P08922, P08941, P09760, P09769, P11273, P11362, P13388, P14234, P14616, P14617, P16092, P16591, P18461, P21802, P21803, P21804, P22607

SIGNOR signaling

9 interactions.

A	Effect	B	Mechanism
CSNK1E	up-regulates	ROR2	phosphorylation
GSK3B	“down-regulates activity”	ROR2	phosphorylation
ROR2	up-regulates	FLNA	binding
ROR2	up-regulates	MAPK8	binding
TAB1	down-regulates	ROR2	phosphorylation
ROR2	up-regulates	ROR2	binding
WNT5A	up-regulates	ROR2	binding
GSK3B/Axin/APC	“down-regulates activity”	ROR2	phosphorylation
ROR2	“down-regulates activity”	VANGL2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 143 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	52.2×	2e-08
Activation of BAD and translocation to mitochondria	6	50.8×	1e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	44.8×	3e-07
Activation of BH3-only proteins	6	33.1×	2e-06
Co-inhibition by PD-1	5	28.8×	4e-05
RHO GTPases activate PKNs	8	28.2×	7e-08
Intrinsic Pathway for Apoptosis	6	19.5×	4e-05
FOXO-mediated transcription	5	18.7×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine dephosphorylation	6	43.6×	2e-06
positive regulation of T cell mediated cytotoxicity	5	20.9×	9e-04
protein dephosphorylation	10	18.2×	2e-07
negative regulation of T cell proliferation	5	13.5×	3e-03
negative regulation of MAPK cascade	5	12.3×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	37
Likely pathogenic	29
Uncertain significance	471
Likely benign	216
Benign	53

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071387	NC_000009.11:g.(?94485944)(94538110_?)del	Pathogenic
1188826	NM_004560.4(ROR2):c.1353_1360del (p.Met452fs)	Pathogenic
1432569	NM_004560.4(ROR2):c.95C>A (p.Ser32Ter)	Pathogenic
1458244	NM_004560.4(ROR2):c.1399_1400insT (p.Glu467fs)	Pathogenic
1679220	NM_004560.4(ROR2):c.1184-1G>T	Pathogenic
1932498	NM_004560.4(ROR2):c.1375C>T (p.Gln459Ter)	Pathogenic
1946778	NM_004560.4(ROR2):c.310C>T (p.Gln104Ter)	Pathogenic
2025006	NM_004560.4(ROR2):c.1067del (p.Pro356fs)	Pathogenic
2136785	NM_004560.4(ROR2):c.2278C>T (p.Gln760Ter)	Pathogenic
2425156	NC_000009.11:g.(?94485944)(94538120_?)del	Pathogenic
2753585	NM_004560.4(ROR2):c.1318C>T (p.Gln440Ter)	Pathogenic
2763631	NM_004560.4(ROR2):c.1027C>T (p.Gln343Ter)	Pathogenic
282589	NM_004560.4(ROR2):c.2130_2151dup (p.Pro718delinsAlaAlaLeuProArgTer)	Pathogenic
3001352	NM_004560.4(ROR2):c.139dup (p.Leu47fs)	Pathogenic
3381923	NM_004560.4(ROR2):c.1205dup (p.Met402fs)	Pathogenic
3641516	NM_004560.4(ROR2):c.531C>G (p.Tyr177Ter)	Pathogenic
3724683	NM_004560.4(ROR2):c.1357G>T (p.Glu453Ter)	Pathogenic
504160	NM_004560.4(ROR2):c.566_569dup (p.Ile191fs)	Pathogenic
7304	NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter)	Pathogenic
7305	NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter)	Pathogenic
7306	NM_004560.4(ROR2):c.2249del (p.Gly750fs)	Pathogenic
7307	NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)	Pathogenic
7309	NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter)	Pathogenic
7310	NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)	Pathogenic
7311	NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)	Pathogenic
7312	NM_004560.4(ROR2):c.2247G>A (p.Trp749Ter)	Pathogenic
7313	NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs)	Pathogenic
7314	NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)	Pathogenic
7315	NM_004560.4(ROR2):c.622+762_1184-1036del	Pathogenic
7316	NM_004560.4(ROR2):c.1366dup (p.Leu456fs)	Pathogenic

SpliceAI

3888 predictions. Top by Δscore:

Variant	Effect	Δscore
9:91725106:GCC:G	acceptor_loss	1.0000
9:91725107:CCTG:C	acceptor_loss	1.0000
9:91725108:C:CA	acceptor_loss	1.0000
9:91725108:C:CC	acceptor_gain	1.0000
9:91726647:A:C	acceptor_gain	1.0000
9:91730909:CTACA:C	donor_gain	1.0000
9:91733118:TCAC:T	donor_loss	1.0000
9:91733119:CACA:C	donor_loss	1.0000
9:91733120:A:AC	donor_gain	1.0000
9:91733121:C:CC	donor_gain	1.0000
9:91733121:C:CT	donor_loss	1.0000
9:91733121:CAG:C	donor_gain	1.0000
9:91737385:TCCTA:T	donor_loss	1.0000
9:91737386:CCTA:C	donor_loss	1.0000
9:91737387:CTAC:C	donor_loss	1.0000
9:91737388:TA:T	donor_loss	1.0000
9:91737389:A:C	donor_loss	1.0000
9:91737390:C:CA	donor_loss	1.0000
9:91737514:CATCC:C	acceptor_gain	1.0000
9:91737515:ATCC:A	acceptor_gain	1.0000
9:91737516:TCC:T	acceptor_gain	1.0000
9:91737517:CC:C	acceptor_gain	1.0000
9:91737517:CCC:C	acceptor_gain	1.0000
9:91737518:CC:C	acceptor_gain	1.0000
9:91737519:C:CC	acceptor_gain	1.0000
9:91737519:CTG:C	acceptor_loss	1.0000
9:91737520:T:A	acceptor_loss	1.0000
9:91737522:G:GC	acceptor_gain	1.0000
9:91756065:ACTT:A	donor_loss	1.0000
9:91756068:TACTG:T	donor_loss	1.0000

AlphaMissense

6167 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:91731073:C:A	W340C	1.000
9:91731073:C:G	W340C	1.000
9:91733268:C:G	C264S	1.000
9:91733269:A:T	C264S	1.000
9:91733363:G:C	C232W	1.000
9:91733364:C:G	C232S	1.000
9:91733364:C:T	C232Y	1.000
9:91733365:A:G	C232R	1.000
9:91733365:A:T	C232S	1.000
9:91737467:A:C	C182W	1.000
9:91737468:C:G	C182S	1.000
9:91737468:C:T	C182Y	1.000
9:91737469:A:G	C182R	1.000
9:91737469:A:T	C182S	1.000
9:91737484:A:C	Y177D	1.000
9:91737492:C:G	C174S	1.000
9:91737493:A:T	C174S	1.000
9:91757286:A:G	L150P	1.000
9:91757292:C:T	G148D	1.000
9:91757325:G:T	A137D	1.000
9:91757330:G:C	C135W	1.000
9:91757332:A:G	C135R	1.000
9:91757338:A:C	Y133D	1.000
9:91757343:C:T	G131D	1.000
9:91757344:C:G	G131R	1.000
9:91757376:A:G	L120P	1.000
9:91757444:C:A	K97N	1.000
9:91757444:C:G	K97N	1.000
9:91757448:A:G	L96P	1.000
9:91757450:C:A	W95C	1.000

dbSNP variants (sampled 300 via entrez): RS1000016232 (9:91738201 C>T), RS1000035129 (9:91813712 T>C), RS1000037888 (9:91815669 G>A), RS1000045403 (9:91948866 C>A,G), RS1000049001 (9:91752755 A>G), RS1000056039 (9:91732471 C>A,G,T), RS1000065666 (9:91734910 G>A), RS1000066017 (9:91889676 C>T), RS1000067583 (9:91886946 G>A,C), RS1000072134 (9:91775078 G>A,T), RS1000088209 (9:91748836 G>C), RS1000095318 (9:91728824 T>C), RS1000106541 (9:91732730 G>A), RS1000113675 (9:91847998 T>C), RS1000126648 (9:91729198 G>A)

Disease associations

OMIM: gene MIM:602337 | disease phenotypes: MIM:113000, MIM:268310, MIM:185700, MIM:180700, MIM:617468, MIM:208150

GenCC curated gene-disease

Disease	Classification	Inheritance
brachydactyly type B1	Definitive	Autosomal dominant
autosomal recessive Robinow syndrome	Definitive	Autosomal recessive

Mondo (9): brachydactyly type B1 (MONDO:0007220), autosomal recessive Robinow syndrome (MONDO:0009999), intellectual disability (MONDO:0001071), distal symphalangism (MONDO:0008509), autosomal dominant Robinow syndrome 1 (MONDO:0024455), cleft lip (MONDO:0004747), cleft palate (MONDO:0016064), arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101)

Orphanet (10): Autosomal recessive Robinow syndrome (Orphanet:1507), Brachydactyly type B1 (Orphanet:572385), Brachydactyly type B (Orphanet:93383), Robinow syndrome (Orphanet:97360), Isolated distal symphalangism (Orphanet:3248), Autosomal dominant Robinow syndrome (Orphanet:3107), Cleft palate (Orphanet:2014), Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

155 total (30 of 155 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000059	Hypoplastic labia majora
HP:0000060	Clitoral hypoplasia
HP:0000064	Hypoplastic labia minora
HP:0000075	Renal duplication
HP:0000121	Nephrocalcinosis
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000164	Abnormality of the dentition
HP:0000171	Microglossia
HP:0000174	Abnormal palate morphology
HP:0000189	Narrow palate
HP:0000202	Orofacial cleft
HP:0000207	Triangular mouth
HP:0000212	Gingival overgrowth
HP:0000219	Thin upper lip vermilion
HP:0000256	Macrocephaly
HP:0000260	Wide anterior fontanel
HP:0000270	Delayed cranial suture closure
HP:0000272	Malar flattening
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000316	Hypertelorism

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST001567_13	Bipolar disorder and schizophrenia	6.000000e-07
GCST002718_2	Type 2 diabetes	4.000000e-06
GCST002815_1	Bipolar disorder (inflammation and infection response interaction)	8.000000e-06
GCST003379_2	Bone mineral density (hip)	3.000000e-07
GCST003999_11	Nose size	7.000000e-09
GCST007743_23	Iris color (L* coordinate)	7.000000e-06
GCST008362_117	Birth weight	2.000000e-08
GCST008363_116	Offspring birth weight	2.000000e-06
GCST009464_12	Facial morphology	9.000000e-09
GCST010146_11	Serum immune biomarker levels	3.000000e-09

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007037	cytomegalovirus seropositivity
EFO:0007702	hip bone mineral density
EFO:0009764	eye colour measurement
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004869	YKL40 measurement
EFO:0004872	inflammatory biomarker measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D002971	Cleft Lip	C07.465.409.225; C07.465.525.164; C07.650.525.164; C16.131.850.525.164
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C566196	Brachydactyly, Type B1 (supp.)
C535863	Robinow syndrome, autosomal recessive (supp.)
C566099	Symphalangism, Distal (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2375201 (SINGLE PROTEIN), CHEMBL6195514 (PROTEIN-PROTEIN INTERACTION)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Type VIII RTKs: ROR family

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.37	Kd	43	nM	CHEMBL5416192

PubChem BioAssay actives

1 with measured affinity, of 5 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(3R,6S,9S,12S,15S,21S,24S,27S,30S,33S,36S)-N-(2-amino-2-oxoethyl)-9,36-dibenzyl-21-(hydroxymethyl)-12,24,33-tris[(4-hydroxyphenyl)methyl]-15-(1H-indol-3-ylmethyl)-10-methyl-6,30-bis(2-methylpropyl)-5,8,11,14,17,20,23,26,29,32,35,38-dodecaoxo-27-propan-2-yl-1-thia-4,7,10,13,16,19,22,25,28,31,34,37-dodecazacyclononatriacontane-3-carboxamide	2005020: Binding affinity to full length human His-tagged ROR2 (943 residues ) assessed as dissociation constant by SPR analysis	kd	0.0430	uM

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, increases methylation	7
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	3
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
sotorasib	affects cotreatment, decreases expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
pyrvinium	decreases reaction, increases expression, decreases expression	1
benzo(e)pyrene	increases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	increases expression	1
chromium hexavalent ion	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Catechin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2379173	Binding	Inhibition of ROR2 phosphorylation in growth factor-stimulated HUVEC at 3 uM after 24 hrs	Design, synthesis and biological evaluation of new classes of thieno[3,2-d]pyrimidinone and thieno[1,2,3]triazine as inhibitor of vascular endothelial growth factor receptor-2 (VEGFR-2). — Eur J Med Chem

Cellosaurus cell lines

8 cell lines: 6 cancer cell line, 1 transformed cell line, 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B7Z7	Abcam Raji ROR2 KO	Cancer cell line	Male
CVCL_B9ZY	Abcam THP-1 ROR2 KO	Cancer cell line	Male
CVCL_C7BM	Abcam PC-3 ROR2 KO	Cancer cell line	Male
CVCL_D9QU	Ubigene HEK293 ROR2 KO	Transformed cell line	Female
CVCL_E0MY	Ubigene HeLa ROR2 KO	Cancer cell line	Female
CVCL_E6RM	Genomeditech CHO-K1 H_ROR2	Spontaneously immortalized cell line	Female
CVCL_TJ56	HAP1 ROR2 (-) 4	Cancer cell line	Male
CVCL_TJ57	HAP1 ROR2 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders