DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
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: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.820 strong 1.000 4 2003 2017
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 8 8 0.780 strong 1.000 11 8 2003 2017
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 62 3 0.650 strong 1.000 9 3 2003 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 1.000 2 1 2010 2018
X-linked Dyggve-Melchior-Clausen syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
disease Disease or Syndrome 3 8 0.300 strong 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.130 None 1.000 3 2005 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.110 None 1.000 1 2003 2003
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2015 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 9 9 2010 2019
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 4 4 2010 2013
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 2 4 2018 2019
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742 0.100 None 1.000 1 1 2015 2015
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 2 2017 2017
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2015 2015
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
body fat percentage (physical finding)
phenotype Finding 56 98 0.100 None 1.000 1 1 2017 2017
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.100 None 0
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist
disease Anatomical Abnormality 10 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening
phenotype Finding 7 1 0.100 None 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis
phenotype Musculoskeletal Diseases Finding 21 4 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0