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: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 Biomarker disease CTD_human
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease CLINVAR
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.480 Biomarker group HPO
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.430 CausalMutation disease CLINVAR
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 CausalMutation disease CLINVAR
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.400 Biomarker phenotype HPO
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.310 CausalMutation group CLINVAR
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.300 Biomarker disease CTD_human
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		0.300 Biomarker disease CTD_human
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		0.300 Biomarker disease CTD_human
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		0.300 Biomarker disease CTD_human
CUI: C2931358
Disease: Muscular atrophy, spinal, infantile chronic form
Muscular atrophy, spinal, infantile chronic form 		0.300 Biomarker disease CTD_human
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.200 GeneticVariation disease CLINVAR
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.200 Biomarker disease HPO
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.200 CausalMutation disease CLINVAR
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.110 Biomarker disease HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		0.100 Biomarker phenotype HPO
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 GeneticVariation group CLINVAR
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		0.100 Biomarker group HPO
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		0.100 GeneticVariation disease CLINVAR
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		0.100 Biomarker phenotype HPO