DYNC2H1

Summary

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1, HGNC:2962) is a protein-coding gene on chromosome 11q22.3, encoding Cytoplasmic dynein 2 heavy chain 1 (Q8NCM8). May function as a motor for intraflagellar retrograde transport.

This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins.

Source: NCBI Gene 79659 — RefSeq curated summary.

At a glance

• Gene–disease (curated): asphyxiating thoracic dystrophy 3 (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 11
• Clinical variants (ClinVar): 4,271 total — 266 pathogenic, 230 likely-pathogenic
• Phenotypes (HPO): 90
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001377

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2962
Approved symbol	DYNC2H1
Name	dynein cytoplasmic 2 heavy chain 1
Location	11q22.3
Locus type	gene with protein product
Status	Approved
Aliases	hdhc11, DHC2, DHC1b, DYH1B
Ensembl gene	ENSG00000187240
Ensembl biotype	protein_coding
OMIM	603297
Entrez	79659

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000334267, ENST00000375735, ENST00000525306, ENST00000527252, ENST00000528670, ENST00000530547, ENST00000533027, ENST00000533197, ENST00000648198, ENST00000649323, ENST00000650373, ENST00000925566

RefSeq mRNA: 2 — MANE Select: NM_001377 NM_001080463, NM_001377

CCDS: CCDS44717, CCDS53701

Canonical transcript exons

ENST00000375735 — 89 exons

Exon	Start	End
ENSE00001105107	103158677	103158809
ENSE00001105110	103163028	103163147
ENSE00001105114	103170108	103170290
ENSE00001105115	103154451	103154606
ENSE00001105118	103155331	103155501
ENSE00001105120	103156388	103156770
ENSE00001105127	103158910	103159027
ENSE00001105131	103165898	103166048
ENSE00001105133	103160932	103161044
ENSE00001105136	103170886	103171068
ENSE00001105138	103168755	103168960
ENSE00001105142	103154695	103154809
ENSE00001332529	103109426	103109769
ENSE00001468188	103321029	103321237
ENSE00001468189	103316545	103316620
ENSE00001468190	103311878	103312033
ENSE00001468192	103307721	103307831
ENSE00001468213	103243693	103243791
ENSE00001468214	103236430	103236539
ENSE00001468215	103235672	103235813
ENSE00001468216	103234034	103234160
ENSE00001468218	103231260	103231346
ENSE00001468219	103222965	103223086
ENSE00001468221	103222030	103222153
ENSE00001468228	103479095	103479863
ENSE00001531716	103153303	103153508
ENSE00001531720	103152136	103152285
ENSE00001531722	103148490	103148617
ENSE00001531724	103147772	103147887
ENSE00001531725	103143268	103143395
ENSE00001531729	103135720	103135948
ENSE00001531731	103135495	103135634
ENSE00001546821	103187340	103187586
ENSE00001549213	103186242	103186501
ENSE00001550332	103174055	103174170
ENSE00001552779	103176235	103176434
ENSE00001553043	103188497	103188648
ENSE00001554904	103181757	103181886
ENSE00001556786	103191517	103191619
ENSE00001559406	103177556	103177820
ENSE00001560503	103179026	103179233
ENSE00001561405	103184896	103185051
ENSE00001562004	103173082	103173305
ENSE00001563375	103189672	103189816
ENSE00001592491	103203663	103203776
ENSE00001597274	103121372	103121496
ENSE00001603308	103122825	103123000
ENSE00001605266	103125100	103125295
ENSE00001618476	103219915	103220028
ENSE00001623192	103128910	103129005
ENSE00001629989	103120925	103121036
ENSE00001645368	103197933	103198063
ENSE00001662381	103113537	103113707
ENSE00001667849	103133555	103133707
ENSE00001679773	103199228	103199476
ENSE00001702409	103220623	103220783
ENSE00001716793	103200046	103200154
ENSE00001719974	103204822	103204964
ENSE00001732647	103134321	103134419
ENSE00001764511	103192097	103192264
ENSE00001770249	103120447	103120581
ENSE00001771487	103117631	103117863
ENSE00001778371	103120689	103120802
ENSE00001779583	103115177	103115295
ENSE00001793221	103116570	103116714
ENSE00001796143	103215721	103215858
ENSE00001804776	103114103	103114238
ENSE00002430171	103287533	103287605
ENSE00002450916	103303093	103303253
ENSE00002451222	103282179	103282229
ENSE00002462836	103255415	103255534
ENSE00002470002	103304595	103304720
ENSE00002485245	103259888	103259977
ENSE00002498486	103280348	103280413
ENSE00002500197	103245251	103245374
ENSE00002514342	103257608	103257751
ENSE00002518444	103253285	103253448
ENSE00002527372	103256106	103256240
ENSE00003491033	103399663	103399872
ENSE00003506846	103358243	103358359
ENSE00003531170	103323886	103323990
ENSE00003544619	103211789	103211943
ENSE00003546392	103455186	103455295
ENSE00003560246	103468589	103468705
ENSE00003569432	103209876	103209960
ENSE00003595185	103286255	103286386
ENSE00003619143	103283008	103283085
ENSE00003666819	103435943	103436032
ENSE00003682685	103456275	103456356

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 98.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2432 / max 365.1518, expressed in 1491 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116438	6.0516	1249
116435	5.4885	1302
116436	0.4980	300
116437	0.2051	68

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.10	gold quality
bronchial epithelial cell	CL:0002328	96.38	gold quality
right uterine tube	UBERON:0001302	96.01	gold quality
epithelium of bronchus	UBERON:0002031	95.86	gold quality
bronchus	UBERON:0002185	94.60	gold quality
oocyte	CL:0000023	93.76	gold quality
calcaneal tendon	UBERON:0003701	93.59	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.51	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.68	gold quality
adenohypophysis	UBERON:0002196	89.79	gold quality
tibia	UBERON:0000979	89.74	gold quality
ventricular zone	UBERON:0003053	89.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.04	gold quality
pituitary gland	UBERON:0000007	88.88	gold quality
right testis	UBERON:0004534	87.47	gold quality
left testis	UBERON:0004533	87.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.12	gold quality
left ovary	UBERON:0002119	87.07	gold quality
right ovary	UBERON:0002118	86.86	gold quality
endocervix	UBERON:0000458	86.32	gold quality
testis	UBERON:0000473	86.14	gold quality
tibial nerve	UBERON:0001323	86.11	gold quality
body of uterus	UBERON:0009853	86.01	gold quality
stromal cell of endometrium	CL:0002255	85.43	gold quality
mucosa of stomach	UBERON:0001199	84.79	gold quality
adrenal tissue	UBERON:0018303	84.67	gold quality
caudate nucleus	UBERON:0001873	84.56	gold quality
caput epididymis	UBERON:0004358	84.47	gold quality
ovary	UBERON:0000992	84.36	gold quality
ectocervix	UBERON:0012249	83.90	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.07
E-ENAD-27	yes	3.86
E-GEOD-81383	no	920.25
E-MTAB-7249	no	550.60
E-MTAB-7381	no	302.36
E-ENAD-20	no	94.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting DYNC2H1, 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-4262	100.00	73.26	3931
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4795-3P	100.00	74.62	4024
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-186-5P	99.99	70.83	3707
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-466	99.67	70.85	2863

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 23)

• Semi-quantitative RT-PCR experiments with 6 of those genes confirmed higher expression of DNCH2, ARHGEF6, NPM1 and SRI and lower expression of NRGN and TM4SF2 in GBM tumors. (PMID:16320026)
• short-rib polydactyly syndrome affected individuals were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C (PMID:19361615)
• ATD and SRP type III are variants of a single disorder belonging to the ciliopathy group. (PMID:19442771)
• In an in vitro MT gliding assay, both dynein-1 and dynein-2 showed minus-end-directed motor activities. (PMID:21723285)
• This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. (PMID:22499340)
• Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (PMID:23456818)
• Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2. (PMID:24046448)
• Compound heterozygous mutation in DYNC2H1 gene is associated with severe short-rib polydactyly syndrome type III. (PMID:25410398)
• a DYNC2H1 mutations causing SRPS III (PMID:25982780)
• Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for cynein cytoplasmic heavy chain 1. (PMID:26147384)
• Compound heterozygous mutations in DYNC2H1 and ALOX15 were identified in miscarriages from two families with RPL. DYNC2H1 is involved in cilia biogenesis and has been associated with fetal lethality in humans. ALOX15 is expressed in placenta and its dysregulation has been associated with inflammation, placental, dysfunction, abnormal oxidative stress response and angiogenesis. (PMID:26826164)
• exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome (PMID:26874042)
• next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively (PMID:27323140)
• In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations. (PMID:27925158)
• This is the first report of prenatal diagnosis of DYNC2H1 mutations causing Short-rib polydactyly syndrome (SRPS) Type III in a fetus with increased BPD associated with polyhydramnios in China. (PMID:29359448)
• Pathogenic germline and somatic variants of DYNC2H1 associated with hypothalamic hamartoma were found. (PMID:31197031)
• we identified the nuclear transportation of DNA repair proteins by DHC2 as a critical regulator of acquired temozolomide resistance in MGMT-deficient glioblastoma (PMID:31347685)
• Molecular analyses using whole exome sequencing in one family revealed that the patient is compound heterozygote in DYNC2H1 gene for a frame-shift mutation c.4458delT resulting in premature stop-codon p.Phe1486Leufs*11 and a missense mutation c.9044A>G (p.Asp3015Gly) (PMID:31935347)
• DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. (PMID:32753734)
• Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy. (PMID:33694158)
• DYNC2H1 variants cause Leber congenital amaurosis without syndromic features. (PMID:33755199)
• Radiological and histopathological features of short ribpolydactyly syndrome type III and identification of two novel DYNC2H1 variants. (PMID:33846808)
• Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. (PMID:36599940)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	DYNC2H1	ENSDARG00000113761
mus_musculus	Dync2h1	ENSMUSG00000047193
rattus_norvegicus	Dync2h1	ENSRNOG00000032070
drosophila_melanogaster	btv	FBGN0023096
caenorhabditis_elegans	che-3	WBGENE00000485

Paralogs (15): DNAH9 (ENSG00000007174), DNAH5 (ENSG00000039139), DNAH11 (ENSG00000105877), DNAH1 (ENSG00000114841), DNAH6 (ENSG00000115423), DNAH7 (ENSG00000118997), DNAH8 (ENSG00000124721), DNAH3 (ENSG00000158486), DNAH12 (ENSG00000174844), DNHD1 (ENSG00000179532), DNAH2 (ENSG00000183914), DNAH14 (ENSG00000185842), DNAH17 (ENSG00000187775), DYNC1H1 (ENSG00000197102), DNAH10 (ENSG00000197653)

Protein

Protein identifiers

Cytoplasmic dynein 2 heavy chain 1 — Q8NCM8 (reviewed: Q8NCM8)

Alternative names: Cytoplasmic dynein 2 heavy chain, Dynein cytoplasmic heavy chain 2, Dynein heavy chain 11, Dynein heavy chain isotype 1B

All UniProt accessions (5): A0A3B3ISP9, A0A3B3IT36, H0YDE0, H0YEX1, Q8NCM8

UniProt curated annotations — full annotation on UniProt →

Function. May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells.

Subunit / interactions. The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Cell membrane.

Disease relevance. Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a ’trident’ appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly).

Similarity. Belongs to the dynein heavy chain family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8NCM8-1	1	yes
Q8NCM8-2	2
Q8NCM8-3	3

RefSeq proteins (2): NP_001073932, NP_001368* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003593	AAA+_ATPase	Domain
IPR004273	Dhc_D6_P-loop	Domain
IPR013594	Dynein_heavy_tail	Domain
IPR013602	Dhc_linker	Domain
IPR024317	Dhc_D4	Domain
IPR024743	Dynein_HC_stalk	Domain
IPR026983	DHC	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035699	Dhc_AAA	Domain
IPR035706	AAA_9	Domain
IPR041228	Dhc_C	Domain
IPR041658	AAA_lid_11	Domain
IPR042219	AAA_lid_11_sf	Homologous_superfamily
IPR042222	Dynein_2_N	Homologous_superfamily
IPR042228	Dynein_linker_3	Homologous_superfamily
IPR043157	Dynein_AAA1S	Homologous_superfamily
IPR043160	Dynein_C_barrel	Homologous_superfamily
IPR049400	DYNC2H1_AAA_dom	Domain
IPR054354	DYNC2H1-like_lid	Domain

Pfam: PF03028, PF08385, PF08393, PF12774, PF12775, PF12777, PF12780, PF12781, PF18198, PF18199, PF21264, PF22597

UniProt features (306 total): helix 124, strand 76, sequence variant 48, turn 26, sequence conflict 12, region of interest 8, binding site 5, coiled-coil region 4, splice variant 2, chain 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
4RH7	X-RAY DIFFRACTION	3.41
8RGH	ELECTRON MICROSCOPY	3.9
8RGG	ELECTRON MICROSCOPY	4
6RLB	ELECTRON MICROSCOPY	4.5

Predicted structure (AlphaFold)

No AlphaFold model available for Q8NCM8 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Ligand- & substrate-binding residues (5): 145–152; 1689–1696; 1979–1986; 2291–2298; 2655–2662

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5610787	Hedgehog ‘off’ state
R-HSA-5620924	Intraflagellar transport

MSigDB gene sets: 407 (showing top): GOBP_SPINAL_CORD_DEVELOPMENT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, chr11q22, MODULE_418, GOBP_NEUROGENESIS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_VENTRAL_SPINAL_CORD_DEVELOPMENT

GO Biological Process (20): kidney development (GO:0001822), Golgi organization (GO:0007030), determination of left/right symmetry (GO:0007368), dorsal/ventral pattern formation (GO:0009953), protein processing (GO:0016485), spinal cord motor neuron differentiation (GO:0021522), embryonic limb morphogenesis (GO:0030326), forebrain development (GO:0030900), intraciliary retrograde transport (GO:0035721), positive regulation of smoothened signaling pathway (GO:0045880), cilium assembly (GO:0060271), cilium movement involved in cell motility (GO:0060294), coronary vasculature development (GO:0060976), protein localization to cilium (GO:0061512), non-motile cilium assembly (GO:1905515), microtubule-based movement (GO:0007018), heart development (GO:0007507), central nervous system neuron differentiation (GO:0021953), cell projection organization (GO:0030030), neuron differentiation (GO:0030182)

GO Molecular Function (8): cytoskeletal motor activity (GO:0003774), ATP binding (GO:0005524), minus-end-directed microtubule motor activity (GO:0008569), dynein intermediate chain binding (GO:0045505), dynein light intermediate chain binding (GO:0051959), nucleotide binding (GO:0000166), protein binding (GO:0005515), ATP hydrolysis activity (GO:0016887)

GO Cellular Component (16): Golgi apparatus (GO:0005794), cytoplasmic dynein complex (GO:0005868), microtubule (GO:0005874), plasma membrane (GO:0005886), cilium (GO:0005929), axoneme (GO:0005930), apical part of cell (GO:0045177), extracellular exosome (GO:0070062), ciliary tip (GO:0097542), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), dynein complex (GO:0030286), motile cilium (GO:0031514), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
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
animal organ development	2
protein binding	2
cilium	2
renal system development	1
organelle organization	1
endomembrane system organization	1
determination of bilateral symmetry	1
left/right pattern formation	1
regionalization	1
proteolysis	1
protein maturation	1
cell differentiation in spinal cord	1
ventral spinal cord development	1
central nervous system neuron differentiation	1
limb morphogenesis	1
embryonic appendage morphogenesis	1
brain development	1
anatomical structure development	1
intraciliary transport	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	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
cilium movement	1
cell motility	1
cilium-dependent cell motility	1
blood vessel development	1
heart development	1
protein localization to organelle	1
cilium assembly	1
microtubule-based process	1
circulatory system development	1

Protein interactions and networks

STRING

1727 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DYNC2H1	DYNC2LI1	Q8TCX1	981
DYNC2H1	IFT80	Q9P2H3	971
DYNC2H1	DYNC2I2	Q96EX3	971
DYNC2H1	NEK1	Q96PY6	969
DYNC2H1	DYNLL1	P63167	937
DYNC2H1	DYNC2I1	Q8WVS4	904
DYNC2H1	IFT172	Q9UG01	877
DYNC2H1	DYNLT2B	Q8WW35	866
DYNC2H1	TTC21B	Q7Z4L5	791
DYNC2H1	EVC	P57679	790
DYNC2H1	IFT122	Q9HBG6	753
DYNC2H1	WDR19	Q8NEZ3	753
DYNC2H1	IFT140	Q96RY7	750
DYNC2H1	WDR35	Q9P2L0	722
DYNC2H1	IFT88	Q13099	711

IntAct

57 interactions, top by confidence:

A	B	Type	Score
SPC24	NDC80	psi-mi:“MI:0914”(association)	0.920
GDI1	RAB4A	psi-mi:“MI:0914”(association)	0.820
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
FCGRT	GOLIM4	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
CENPH	PSMD11	psi-mi:“MI:0914”(association)	0.530
SS18L2	ARID1A	psi-mi:“MI:2364”(proximity)	0.480
DYNC2H1	HNRNPA1L2	psi-mi:“MI:0915”(physical association)	0.400
DYNC2H1	DYNC2H1	psi-mi:“MI:0407”(direct interaction)	0.360
Nedd1		psi-mi:“MI:0914”(association)	0.350
Kif1c	ABLIM1	psi-mi:“MI:0914”(association)	0.350
TIGD6	ZRANB2	psi-mi:“MI:0914”(association)	0.350
PPP2R3C	OFD1	psi-mi:“MI:0914”(association)	0.350
Evpl	RAD9A	psi-mi:“MI:0914”(association)	0.350
Wdr5	MGA	psi-mi:“MI:0914”(association)	0.350
Cobll1	ABLIM1	psi-mi:“MI:0914”(association)	0.350
Pxdc1	CASK	psi-mi:“MI:0914”(association)	0.350
Tubg1	ZC3H18	psi-mi:“MI:0914”(association)	0.350
Vangl1		psi-mi:“MI:0914”(association)	0.350
Exosc1	MPHOSPH6	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
TANK	CNOT1	psi-mi:“MI:0914”(association)	0.350
USP50	IPO5	psi-mi:“MI:0914”(association)	0.350
	BTAF1	psi-mi:“MI:0914”(association)	0.350
DYNC2LI1	DYNLT1	psi-mi:“MI:0914”(association)	0.350
HIDE1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
GYPA	HYKK	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
PRKY	METTL15	psi-mi:“MI:0914”(association)	0.350

BioGRID (101): DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Co-fractionation), DYNC2H1 (Co-fractionation), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS)

ESM2 similar proteins: A4IF89, F4HQ84, F4JHH5, O00471, O43264, O54692, O54921, O54924, P97878, Q0WQF4, Q14746, Q1RMS6, Q29RB1, Q2QV94, Q3MHG0, Q3SZI7, Q3TPX4, Q45VK7, Q4V8C2, Q5R6J0, Q5R7R6, Q5RFM4, Q5U247, Q5ZJ43, Q5ZL91, Q68FP9, Q6NMI3, Q6NUQ1, Q6PGF7, Q8BZ36, Q8C0L8, Q8CI04, Q8IYI6, Q8L838, Q8NCM8, Q8R1U1, Q8R3I3, Q96JB2, Q96KP1, Q9BW27

Diamond homologs: Q19542, Q27802, Q45VK7, Q8NCM8, Q9JJ79, Q9SMH5, Q3V0Q1, P45443, P45444, P78716, Q923J6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4271 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	266
Likely pathogenic	230
Uncertain significance	1128
Likely benign	1921
Benign	322

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1031037	NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)	Pathogenic
1071685	NM_001377.3(DYNC2H1):c.11915del (p.Pro3972fs)	Pathogenic
1071871	NM_001377.3(DYNC2H1):c.5808del (p.Glu1935_Tyr1936insTer)	Pathogenic
1195154	NM_001377.3(DYNC2H1):c.7140+1G>A	Pathogenic
1252018	NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)	Pathogenic
1322793	NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter)	Pathogenic
1332719	NM_001377.3(DYNC2H1):c.12238C>T (p.Gln4080Ter)	Pathogenic
1350595	NM_001377.3(DYNC2H1):c.4724del (p.Thr1575fs)	Pathogenic
1373072	NM_001377.3(DYNC2H1):c.2140C>T (p.Gln714Ter)	Pathogenic
1425264	NM_001377.3(DYNC2H1):c.7380G>A (p.Trp2460Ter)	Pathogenic
1429195	NM_001377.3(DYNC2H1):c.3076C>T (p.Gln1026Ter)	Pathogenic
1451461	NM_001377.3(DYNC2H1):c.2008G>T (p.Glu670Ter)	Pathogenic
1452722	NM_001377.3(DYNC2H1):c.4328del (p.Gln1443fs)	Pathogenic
1453557	NM_001377.3(DYNC2H1):c.9823C>T (p.Arg3275Ter)	Pathogenic
1456954	NC_000011.9:g.(?103325894)(103349981_?)del	Pathogenic
1496910	NM_001377.3(DYNC2H1):c.12763C>T (p.Gln4255Ter)	Pathogenic
167015	NM_001377.3(DYNC2H1):c.8947-1G>T	Pathogenic
1683449	NM_001377.3(DYNC2H1):c.4429A>T (p.Lys1477Ter)	Pathogenic
1698390	NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter)	Pathogenic
1707477	NM_001377.3(DYNC2H1):c.6464G>A (p.Trp2155Ter)	Pathogenic
1722990	NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)	Pathogenic
1803487	NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)	Pathogenic
195733	NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)	Pathogenic
196997	NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs)	Pathogenic
198946	NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter)	Pathogenic
1998596	NM_001377.3(DYNC2H1):c.6703del (p.Arg2235fs)	Pathogenic
2062120	NM_001377.3(DYNC2H1):c.7527T>A (p.Tyr2509Ter)	Pathogenic
2069637	NM_001377.3(DYNC2H1):c.5047del (p.Gly1684fs)	Pathogenic
2423648	NC_000011.9:g.(?103039464)(103041817_?)del	Pathogenic
2428960	NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)	Pathogenic

SpliceAI

13663 predictions. Top by Δscore:

Variant	Effect	Δscore
11:103109750:G:GT	donor_gain	1.0000
11:103109768:CGGTA:C	donor_loss	1.0000
11:103109769:GGTAC:G	donor_loss	1.0000
11:103109770:G:GA	donor_loss	1.0000
11:103109770:G:GG	donor_gain	1.0000
11:103109771:T:G	donor_loss	1.0000
11:103113703:TAAAG:T	donor_loss	1.0000
11:103113706:AG:A	donor_loss	1.0000
11:103113707:GG:G	donor_loss	1.0000
11:103114223:G:GT	donor_gain	1.0000
11:103115241:GATTA:G	donor_gain	1.0000
11:103115242:A:G	donor_gain	1.0000
11:103115246:G:GG	donor_gain	1.0000
11:103115252:A:T	donor_gain	1.0000
11:103115294:GA:G	donor_gain	1.0000
11:103115296:G:GG	donor_gain	1.0000
11:103116569:GGA:G	acceptor_gain	1.0000
11:103117861:G:GT	donor_gain	1.0000
11:103120684:T:G	acceptor_gain	1.0000
11:103120687:A:AG	acceptor_gain	1.0000
11:103120688:G:GG	acceptor_gain	1.0000
11:103120923:A:AG	acceptor_gain	1.0000
11:103120924:G:GG	acceptor_gain	1.0000
11:103121370:A:AG	acceptor_gain	1.0000
11:103121371:G:GG	acceptor_gain	1.0000
11:103121494:AAG:A	donor_loss	1.0000
11:103121495:AGGT:A	donor_loss	1.0000
11:103121496:GGTAT:G	donor_loss	1.0000
11:103121497:G:GC	donor_loss	1.0000
11:103121498:T:G	donor_loss	1.0000

AlphaMissense

28416 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:103170943:T:A	W1737R	1.000
11:103170943:T:C	W1737R	1.000
11:103177766:T:A	W2029R	1.000
11:103177766:T:C	W2029R	1.000
11:103179070:T:A	W2062R	1.000
11:103179070:T:C	W2062R	1.000
11:103179113:T:C	L2076P	1.000
11:103114158:T:C	L141P	0.999
11:103125288:T:C	L617P	0.999
11:103133594:T:A	W665R	0.999
11:103133594:T:C	W665R	0.999
11:103133634:T:C	L678P	0.999
11:103133676:T:C	L692P	0.999
11:103134366:T:A	W718R	0.999
11:103134366:T:C	W718R	0.999
11:103135522:T:A	W745R	0.999
11:103135522:T:C	W745R	0.999
11:103135534:T:A	W749R	0.999
11:103135534:T:C	W749R	0.999
11:103135547:T:C	L753P	0.999
11:103135559:T:C	L757P	0.999
11:103154593:T:A	W1149R	0.999
11:103154593:T:C	W1149R	0.999
11:103156430:G:C	A1263P	0.999
11:103156688:T:A	W1349R	0.999
11:103156688:T:C	W1349R	0.999
11:103158772:T:C	L1408P	0.999
11:103158917:G:C	R1423P	0.999
11:103158940:T:C	F1431L	0.999
11:103158942:T:A	F1431L	0.999

dbSNP variants (sampled 300 via entrez): RS1000001322 (11:103444237 T>G), RS1000008609 (11:103124115 C>T), RS1000018749 (11:103402860 G>A), RS1000021255 (11:103131174 C>T), RS1000043663 (11:103392189 C>G), RS1000064893 (11:103357684 G>A), RS1000068340 (11:103299183 T>C), RS1000074755 (11:103392107 A>G), RS1000081872 (11:103124499 A>C), RS1000087920 (11:103430379 C>T), RS1000091191 (11:103129485 C>T), RS1000094076 (11:103442571 C>G), RS1000096834 (11:103323498 A>T), RS1000124045 (11:103394203 A>G,T), RS1000129402 (11:103172138 T>C)

Disease associations

OMIM: gene MIM:603297 | disease phenotypes: MIM:208500, MIM:613091, MIM:269860, MIM:613819, MIM:268000, MIM:142623, MIM:611263, MIM:263520, MIM:616331, MIM:610193

GenCC curated gene-disease

Disease	Classification	Inheritance
asphyxiating thoracic dystrophy 3	Definitive	Autosomal recessive
Jeune syndrome	Supportive	Autosomal recessive
short rib-polydactyly syndrome, Majewski type	Supportive	Autosomal recessive
short rib-polydactyly syndrome, Verma-Naumoff type	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
asphyxiating thoracic dystrophy 3	Definitive	AR

Mondo (23): Jeune syndrome (MONDO:0018770), asphyxiating thoracic dystrophy 3 (MONDO:0013127), inherited retinal dystrophy (MONDO:0019118), optic atrophy (MONDO:0003608), intellectual disability (MONDO:0001071), Beemer-Langer syndrome (MONDO:0010024), asphyxiating thoracic dystrophy 4 (MONDO:0013441), retinitis pigmentosa (MONDO:0019200), Hirschsprung disease, susceptibility to, 1 (MONDO:0007723), asphyxiating thoracic dystrophy 2 (MONDO:0012644), ciliopathy (MONDO:0005308), short-rib thoracic dysplasia 6 with or without polydactyly (MONDO:0009894), fetal growth restriction (MONDO:0005030), cystic kidney disease (MONDO:0002473), autosomal dominant Robinow syndrome 2 (MONDO:0014591)

Orphanet (16): Jeune syndrome (Orphanet:474), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Short rib-polydactyly syndrome, Majewski type (Orphanet:93269), Short rib-polydactyly syndrome, Saldino-Noonan type (Orphanet:93270), Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271), Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268), Retinitis pigmentosa (Orphanet:791), Hirschsprung disease (Orphanet:388), Ciliopathy (Orphanet:363250), Autosomal dominant Robinow syndrome (Orphanet:3107), Robinow syndrome (Orphanet:97360), Autosomal recessive polycystic kidney disease (Orphanet:731), (Orphanet:8378), Primary bone dysplasia (Orphanet:364526), Short rib-polydactyly syndrome (Orphanet:1505)

HPO phenotypes

90 total (30 of 90 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000062	Ambiguous genitalia
HP:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000090	Nephronophthisis
HP:0000105	Enlarged kidney
HP:0000107	Renal cyst
HP:0000110	Renal dysplasia
HP:0000112	Nephropathy
HP:0000113	Polycystic kidney dysplasia
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000204	Cleft upper lip
HP:0000256	Macrocephaly
HP:0000286	Epicanthus
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000445	Wide nose
HP:0000518	Cataract
HP:0000766	Abnormal sternum morphology
HP:0000772	Abnormal rib morphology
HP:0000773	Short ribs
HP:0000774	Narrow chest
HP:0000888	Horizontal ribs
HP:0000889	Abnormal clavicle morphology
HP:0000895	Lateral clavicle hook
HP:0000944	Abnormal metaphysis morphology
HP:0001156	Brachydactyly

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST000896_1	Small-cell lung cancer (survival)	9.000000e-08
GCST002198_24	Tuberculosis	1.000000e-07
GCST002671_10	Toenail selenium levels	2.000000e-06
GCST002875_71	Diisocyanate-induced asthma	2.000000e-06
GCST003919_1	Spine bone mineral density and alcohol drinking	2.000000e-08
GCST006248_2	Response to lurasidone in schizophrenia	2.000000e-07
GCST010479_21	Coronary artery disease	2.000000e-08
GCST010480_9	Coronary artery disease	3.000000e-09
GCST010866_85	Coronary artery disease	4.000000e-43
GCST010867_2	Coronary artery disease	9.000000e-19
GCST010988_426	Adult body size	3.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0007701	spine bone mineral density

MeSH disease descriptors (13)

Descriptor	Name	Tree numbers
D005317	Fetal Growth Retardation	C12.050.703.277.370; C16.300.390; C23.550.393.450
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D052177	Kidney Diseases, Cystic	C12.050.351.968.419.403; C12.200.777.419.403; C12.950.419.403
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
D012779	Short Rib-Polydactyly Syndrome	C05.116.099.708.857; C05.660.585.600.750; C16.131.077.850; C16.131.621.585.600.750
C565707	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 (supp.)
C566982	Asphyxiating Thoracic Dystrophy 2 (supp.)
C537571	Jeune syndrome (supp.)
C537599	Short rib-polydactyly syndrome, Beemer type (supp.)
C537602	Short rib-polydactyly syndrome, Verma-Naumoff type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs716274	Efficacy	3	etoposide;Platinum compounds

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs716274	DYNC2H1	3	0.00	1	etoposide;Platinum compounds

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases expression	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	3
Tobacco Smoke Pollution	decreases expression	3
Air Pollutants	decreases expression, increases abundance, increases expression	2
Arsenic	decreases expression, decreases methylation, increases abundance, affects cotreatment	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	decreases expression	2
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	increases expression	1
decabromobiphenyl ether	decreases expression	1
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	increases methylation	1
nickel sulfate	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
quinocetone	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 induced pluripotent stem cell, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A6XP	LCHi002-A	Induced pluripotent stem cell	Male
CVCL_A6XQ	LCHi002-B	Induced pluripotent stem cell	Male
CVCL_E1ED	Ubigene U-87 MG DYNC2H1 KO	Cancer cell line	Male
CVCL_XC39	SDQLCHi003-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

249 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
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
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
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
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
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT01064505	PHASE1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
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)
NCT00948376	Not specified	COMPLETED	Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
NCT04143841	Not specified	TERMINATED	Viveye Ocular Magnetic Neurostimulation System (OMNS) for the Management of Severe Dry Eye Disease
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
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