DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		disease Mental or Behavioral Dysfunction 1 20 0.700 None 1.000 9 20 2010 2018
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		disease Disease or Syndrome 1 7 0.900 strong 1.000 8 7 2011 2018
CUI: C3277187
Disease: Type 2 muscle fiber predominance
Type 2 muscle fiber predominance 		phenotype Finding 1 0.100 None 0
CUI: C4022667
Disease: Small toe
Small toe 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 9 0.720 strong 1.000 10 9 2012 2018
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 2 2 0.100 None 0 1
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		phenotype Finding 3 3 0.100 None 0 1
CUI: C4023375
Disease: Tibialis atrophy
Tibialis atrophy 		phenotype Finding 3 1 0.100 None 0 1
CUI: C0850705
Disease: Adult Acquired Toxoplasmosis
Adult Acquired Toxoplasmosis 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C2931358
Disease: Muscular atrophy, spinal, infantile chronic form
Muscular atrophy, spinal, infantile chronic form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0795825
Disease: Chromosome 8, trisomy 8p
Chromosome 8, trisomy 8p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 1998 1998
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 2 0.100 None 0 1
CUI: C4750288
Disease: Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance 		disease Nervous System Diseases Disease or Syndrome 6 0.050 None 1.000 5 2012 2018
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality 6 3 0.100 None 0 1
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 9 0.300 None 0
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.300 None 0
CUI: C0521659
Disease: Motor Neuron Disease, Upper
Motor Neuron Disease, Upper 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2015 2015
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype Pathologic Function 7 19 0.100 None 0 1
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex 		phenotype Finding 8 2 0.100 None 0
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS 		disease Neoplasms Disease or Syndrome 13 3 0.010 None 1.000 1 2007 2007
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		disease Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2014 2014
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 17 0.300 None 0
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		phenotype Finding 14 4 0.100 None 0 1
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		phenotype Finding 15 4 0.100 None 0
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 8 0.030 None 1.000 3 2014 2017