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: C0000729
Disease: Abdominal Cramps
Abdominal Cramps
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Sign or Symptom 1 0.010 None 1.000 1 2018 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: C1846437
Disease: Deformed sella turcica
Deformed sella turcica
phenotype Finding 1 0.100 None 0
CUI: C1846446
Disease: Delayed femoral head ossification
Delayed femoral head ossification
phenotype Finding 1 0.100 None 0
Multicentric femoral head ossification
phenotype Finding 1 0.100 None 0
Multicentric ossification of proximal humeral epiphyses
phenotype Finding 1 0.100 None 0
Multicentric ossification of proximal femoral epiphyses
phenotype Finding 1 0.100 None 0
CUI: C1855177
Disease: Flat glenoid fossa
Flat glenoid fossa
phenotype Finding 2 0.100 None 0
CUI: C1855196
Disease: Flaring of lower rib cage
Flaring of lower rib cage
phenotype Finding 2 0.100 None 0
CUI: C4021746
Disease: Abnormality of the ilium
Abnormality of the ilium
disease Anatomical Abnormality 2 0.100 None 0
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: C1857186
Disease: Iliac crest serration
Iliac crest serration
phenotype Finding 3 0.100 None 0
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
disease Disease or Syndrome 3 8 0.300 strong 0
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae
phenotype Finding 4 1 0.100 None 0
CUI: C1857190
Disease: Wide pubic symphysis
Wide pubic symphysis
phenotype Finding 5 0.100 None 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones
phenotype Finding 6 1 0.100 None 0
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability
disease Disease or Syndrome 7 0.100 None 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening
phenotype Finding 7 1 0.100 None 0
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: C1846433
Disease: Prominent sternum
Prominent sternum
phenotype Finding 8 0.100 None 0
Enlargement of the costochondral junction
phenotype Finding 8 0.100 None 0
CUI: C0340613
Disease: Arterial aneurysm
Arterial aneurysm
disease Cardiovascular Diseases Anatomical Abnormality 10 2 0.010 None 1.000 1 2007 2007
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch
phenotype Finding 10 0.100 None 0
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia
phenotype Finding 10 0.100 None 0
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist
disease Anatomical Abnormality 10 0.100 None 0