DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
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: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
disease Cardiovascular Diseases Disease or Syndrome 1 2 0.600 None 1.000 1 2 2015 2015
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 4 0.600 None 1.000 1 4 2013 2013
Heterotopia, Periventricular, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 3 0.300 None 1.000 1 2013 2013
CUI: C4021884
Disease: Bilateral choanal atresia/stenosis
Bilateral choanal atresia/stenosis
disease Congenital Abnormality 3 0.100 None 0
Van Maldergem Wetzburger Verloes syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 0.520 None 1.000 3 2013 2019
Periventricular gray matter heterotopia
disease Disease or Syndrome 4 3 0.310 strong 1.000 1 2013 2013
CUI: C1856765
Disease: Irregular dentition
Irregular dentition
phenotype Finding 6 1 0.100 None 0
CUI: C3277117
Disease: Caudal appendage
Caudal appendage
phenotype Finding 6 0.100 None 0
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal
phenotype Finding 8 2 0.100 None 0
CUI: C0340364
Disease: Familial mitral valve prolapse
Familial mitral valve prolapse
disease Cardiovascular Diseases Congenital Abnormality 10 0.300 None 1.000 1 2015 2015
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures
phenotype Finding 10 1 0.100 None 0
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal
phenotype Finding 14 1 0.100 None 0
Pituitary stalk interruption syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.010 None 1.000 1 2018 2018
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly
disease Congenital Abnormality 20 1 0.100 None 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development
phenotype Finding 24 0.100 None 0
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum
disease Congenital Abnormality 25 3 0.100 None 0
CUI: C0426807
Disease: Short clavicle
Short clavicle
phenotype Finding 26 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
phenotype Finding 27 0.100 None 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 0.100 None 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 30 5 0.100 None 0
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 30 3 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
phenotype Finding 38 19 0.100 None 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification
phenotype Finding 39 2 0.100 None 0