Gene table of DYNC1H1 : dynein cytoplasmic 1 heavy chain 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DYNC1H1	OMIM link	Number of associated genes	genes
PS156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	44	EHMT1, MEF2C, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, NR1I3, PACS1, DPP6, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, AUTS2, CTNNB1, ARID1B, ZBTB18, CACNG2, MBD5, SMARCB1, KANSL1, SMARCE1, COL4A3BP, MYT1L, ADNP, SMARCA4, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A
PS158600	SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	BICD2, DYNC1H1
PS118220	CHARCOT-MARIE-TOOTH DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	48	KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS

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
Centrosome maturation	R-HSA-380287	6.68
Recruitment of mitotic centrosome proteins and complexes	R-HSA-380270	6.68
Regulation of PLK1 Activity at G2/M Transition	R-HSA-2565942	6.66
Loss of proteins required for interphase microtubule organization from the centrosome	R-HSA-380284	7.03
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Loss of Nlp from mitotic centrosomes	R-HSA-380259	7.03
Immune System	R-HSA-168256	2.37
Mitotic G2-G2/M phases	R-HSA-453274	6.04
Anchoring of the basal body to the plasma membrane	R-HSA-5620912	6.51
Cell Cycle, Mitotic	R-HSA-69278	4.16
MHC class II antigen presentation	R-HSA-2132295	6.01
Cell Cycle	R-HSA-1640170	3.89
Assembly of the primary cilium	R-HSA-5617833	5.44
Adaptive Immune System	R-HSA-1280218	3.19
G2/M Transition	R-HSA-69275	6.06

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
ATP binding	GO:0005524	2.43
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
dynein binding	GO:0045502	6.44
nucleotide binding	GO:0000166	1.96
dynein light intermediate chain binding	GO:0051959	8.64
nucleoside phosphate binding	GO:1901265	1.96
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
poly(A) RNA binding	GO:0044822	2.69
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
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19