DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
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: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 26 5 0.100 None 0
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.100 None 0
CUI: C1969238
Disease: Widely spaced toes
Widely spaced toes
phenotype Finding 3 0.100 None 0
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 15 4 0.100 None 0 2
CUI: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.100 None 0
CUI: C0031538
Disease: Phimosis
Phimosis
phenotype Male Urogenital Diseases Finding 6 0.100 None 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype Finding 62 6 0.100 None 0
CUI: C3887524
Disease: Skin Erosion
Skin Erosion
disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.100 None 0
CUI: C0030436
Disease: Parakeratosis
Parakeratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0027443
Disease: Natal Teeth
Natal Teeth
phenotype Finding 22 2 0.100 None 0
CUI: C0343073
Disease: Wooly hair
Wooly hair
phenotype Skin and Connective Tissue Diseases Finding 19 0.100 None 0
Left ventricular noncompaction cardiomyopathy
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 28 0.100 None 0 1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 5 71 0.100 None 0 2
CUI: C4021633
Disease: Patchy palmoplantar keratoderma
Patchy palmoplantar keratoderma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.100 None 0 1
CUI: C0039231
Disease: Tachycardia
Tachycardia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0
Palmoplantar keratosis with erythema and scale
phenotype Finding 1 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C0221270
Disease: Acanthosis
Acanthosis
phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.100 None 0
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta
phenotype Cardiovascular Diseases Disease or Syndrome 39 2 0.100 None 0 1
Hereditary bundle branch system defect
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 16 0.100 None 0 1