Gene table of DYNC2H1 : dynein cytoplasmic 2 heavy chain 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DYNC2H1	OMIM link	Number of associated genes	genes
PS208500	SHORT-RIB THORACIC DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	14	CEP120, DYNC2H1, IFT80, IFT172, EVC, EVC2, IFT140, TTC21B, KIAA0586, WDR35, WDR19, WDR34, WDR60, NEK1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Vasopressin-regulated water reabsorption	hsa04962	7.18
Phagosome	hsa04145	5.27
Salmonella infection	hsa05132	6.29

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Hedgehog 'off' state	R-HSA-5610787	6.19
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Signaling by Hedgehog	R-HSA-5358351	5.79
Immune System	R-HSA-168256	2.37
Intraflagellar transport	R-HSA-5620924	7.25
MHC class II antigen presentation	R-HSA-2132295	6.01
Assembly of the primary cilium	R-HSA-5617833	5.44
Adaptive Immune System	R-HSA-1280218	3.19
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
motor activity	GO:0003774	4.81
microtubule motor activity	GO:0003777	5.34
hydrolase activity	GO:0016787	1.9
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19