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: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0850705
Disease: Adult Acquired Toxoplasmosis
Adult Acquired Toxoplasmosis 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 1993 1993
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None < 0.001 1 2 2006 2006
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.010 None 1.000 1 2006 2006
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 1994 1994
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.320 strong 1.000 3 2015 2017
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0 1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 1985 1985
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 30 11 0.100 None 0 1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 0 1
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0 1
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2004 2004
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		disease Neoplasms Neoplastic Process 94 6 0.010 None 1.000 1 2002 2002
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 47 2 0.010 None 1.000 1 2002 2002
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0 1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.390 None 1.000 10 2 2011 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: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 1993 1993
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 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: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 122 34 0.010 None 1.000 1 2019 2019
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 105 23 0.010 None 1.000 1 2017 2017
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0