DYM, dymeclin, 54808

N. diseases: 147; N. variants: 14
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 3 0.820 1.000 4 3 2003 2017
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 5 0.780 1.000 10 5 2002 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.420 strong 1.000 2 2005 2016
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1
disease Disease or Syndrome 20 2 0.310 1.000 4 2 2003 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.310 1.000 1 2011 2011
X-linked Dyggve-Melchior-Clausen syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 limited 0
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 0.300 strong 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 151 13 0.110 1 2003 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 2005 2005
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 313 807 0.100 5 5 2010 2015
body fat percentage (physical finding)
phenotype Finding 8 18 0.100 1 1 2017 2017
High density lipoprotein measurement
phenotype Laboratory Procedure 323 867 0.100 1 1 2017 2017
CUI: C1857186
Disease: Iliac crest serration
Iliac crest serration
phenotype Finding 3 0.100 0
Enlargement of the costochondral junction
phenotype Finding 6 0.100 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies
phenotype Finding 12 0.100 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process
phenotype Finding 20 0.100 0
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae
phenotype Finding 4 1 0.100 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses
phenotype Finding 12 0.100 0
CUI: C1855177
Disease: Flat glenoid fossa
Flat glenoid fossa
phenotype Finding 2 0.100 0
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation
phenotype Finding 65 13 0.100 0
Multicentric femoral head ossification
phenotype Finding 1 0.100 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype Finding 32 0.100 0
CUI: C1846446
Disease: Delayed femoral head ossification
Delayed femoral head ossification
phenotype Finding 1 0.100 0