DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 GeneticVariation phenotype BEFREE As a likely consequence of systemic mitochondrial dysfunction, Dync1h1 mutant mice develop hyperinsulinemia and hyperglycemia and progress to glucose intolerance with age. 23742762 2013
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 Biomarker phenotype BEFREE Furthermore, both S. platensis and PCB were able to modulate important markers of oxidative stress and endothelial dysfunction, such as eNOS, p22 NADPH oxidase subunit, and/or VCAM-1. 24056745 2013
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		0.010 GeneticVariation disease BEFREE We found a frequent recurrence of mutations in DYNC1H1, implying that this gene is a major locus for unexplained MCD. 23603762 2013
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.010 GeneticVariation disease BEFREE In this report the identification of two de novo missense mutations in DYNC1H1 (p.Glu1518Lys and p.His3822Pro) in two patients with severe intellectual disability and variable neuronal migration defects is described. 22368300 2012
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.010 GeneticVariation disease BEFREE Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms? 21902598 2012
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis 		0.010 Biomarker disease BEFREE Our group recently identified the recombinant (r) P22 protein, a component of the adult worm protein fraction PIII that has been shown to engender protective and immunomodulatory effects on murine schistosomiasis. 21945176 2011
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 GeneticVariation disease BEFREE Thus, our results suggest that MTUS1 is one of the candidate tumor suppressor genes for HNSCC residing at 8p21.3 approximately p22. 17656251 2007
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS 		0.010 GeneticVariation disease BEFREE We analysed the DNA of one family with hereditary glomuvenous malformations and identified the mutation causing the disease in the glomulin gene on chromosome 1 p22. 17680968 2007
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE We found no association between genetic variation at DYNC1H1 and sporadic ALS (rs2251644; p = 0.538, rs941793; p = 0.204, haplotype; p = 0.956). 16546759 2006
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation disease BEFREE Here we extend these analyses to investigate the DYNC1H1 genomic locus to determine if it is associated with sporadic amyotrophic lateral sclerosis (ALS) in a northern European-derived population. 16546759 2006
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 GeneticVariation disease BEFREE We have previously shown that mutations in the cytoplasmic dynein 1 heavy chain 1 gene (Dync1h1) are causal in a mouse model of late-onset motor neuron degeneration but have found no association of the homologous sites in human DYNC1H1 with human motor neuron disease. 16546759 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE The results suggest that 9p21 in the early event, 17p13.1, 3p25 and 3p14.2 in the intermediate event and 8p21.3- p22 in the late event may be involved in the laryngeal carcinogenesis. 15201498 2004
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		0.010 Biomarker disease BEFREE Four histologically different tumor models were transfected with a plasmid encoding the green fluorescent protein (GFP) (B16 mouse melanoma, P22 rat carcinosarcoma, SaF mouse sarcoma, and T24 human bladder carcinoma) using adherent cells, dense cell suspensions, and solid tumors. 11960291 2002
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		0.010 Biomarker disease BEFREE Recurring breakpoints of 1p13 approximately p22 in osteochondroma. 12505252 2002
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.010 Biomarker disease BEFREE Normal adaptive function with learning disability in duplication 8p including band p22. 9674899 1998
CUI: C0795825
Disease: Chromosome 8, trisomy 8p
Chromosome 8, trisomy 8p 		0.010 Biomarker disease BEFREE Normal adaptive function with learning disability in duplication 8p including band p22. 9674899 1998
CUI: C0242381
Disease: Lyme Arthritis
Lyme Arthritis 		0.010 Biomarker disease BEFREE The monoclonal antibody LA7 was raised against the species-specific Borrelia burgdorferi lipoprotein P22 (= IPLA7), which induces antibody formation in patients with Lyme arthritis. 9026449 1996
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 Biomarker disease BEFREE Examination of sera from patients with Lyme disease revealed that antibodies to P22 are rarely detected in patients with early-stage disease characterized by erythema migrans (2 of 20), and 35% of the patients with late-stage disease characterized by arthritis (9 of 26) developed antibodies to P22. 8027338 1994
CUI: C0014740
Disease: Erythema Chronicum Migrans
Erythema Chronicum Migrans 		0.010 Biomarker disease BEFREE Examination of sera from patients with Lyme disease revealed that antibodies to P22 are rarely detected in patients with early-stage disease characterized by erythema migrans (2 of 20), and 35% of the patients with late-stage disease characterized by arthritis (9 of 26) developed antibodies to P22. 8027338 1994
CUI: C0017677
Disease: Glossitis, Benign Migratory
Glossitis, Benign Migratory 		0.010 Biomarker disease BEFREE Examination of sera from patients with Lyme disease revealed that antibodies to P22 are rarely detected in patients with early-stage disease characterized by erythema migrans (2 of 20), and 35% of the patients with late-stage disease characterized by arthritis (9 of 26) developed antibodies to P22. 8027338 1994
CUI: C0024198
Disease: Lyme Disease
Lyme Disease 		0.010 Biomarker disease BEFREE Examination of sera from patients with Lyme disease revealed that antibodies to P22 are rarely detected in patients with early-stage disease characterized by erythema migrans (2 of 20), and 35% of the patients with late-stage disease characterized by arthritis (9 of 26) developed antibodies to P22. 8027338 1994
CUI: C0039128
Disease: Syphilis
Syphilis 		0.010 Biomarker disease BEFREE Sera from patients with syphilis did not react with P22. 8027338 1994
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 GeneticVariation group BEFREE The relevance of these observations is discussed with respect to other published reports, and together they suggest that lymphoma-associated oncogenes may exist on the X chromosome at bands p22 or q28. 8501979 1993
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 GeneticVariation disease BEFREE The relevance of these observations is discussed with respect to other published reports, and together they suggest that lymphoma-associated oncogenes may exist on the X chromosome at bands p22 or q28. 8501979 1993
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 GeneticVariation disease BEFREE The relevance of these observations is discussed with respect to other published reports, and together they suggest that lymphoma-associated oncogenes may exist on the X chromosome at bands p22 or q28. 8501979 1993