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: C0000887
Disease: Acantholysis
Acantholysis
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function 11 0.100 None 0
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1
disease Mental Disorders Mental or Behavioral Dysfunction 161 34 0.100 None 0
CUI: C1844632
Disease: Anal mucosal leukoplakia
Anal mucosal leukoplakia
phenotype Finding 2 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 59 2 0.100 None 0
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.100 None 0
CUI: C1852301
Disease: Plantar pits
Plantar pits
phenotype Finding 4 0.100 None 0
CUI: C0221270
Disease: Acanthosis
Acanthosis
phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C0264716
Disease: Chronic heart failure
Chronic heart failure
disease Cardiovascular Diseases Disease or Syndrome 223 11 0.300 strong 0
CUI: C0341047
Disease: Hypertrophy of parotid gland
Hypertrophy of parotid gland
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0423776
Disease: Palmar pit
Palmar pit
phenotype Finding 4 0.100 None 0
Darier Disease, Acral Hemorrhagic Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C1852311
Disease: Subungual hyperkeratotic fragments
Subungual hyperkeratotic fragments
phenotype Finding 1 0.100 None 0
CUI: C0001202
Disease: Acrokeratosis
Acrokeratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE
phenotype Finding 87 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 20 0.100 None 0
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9
disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.100 None 0
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8
disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.100 None 0
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7
disease Mental Disorders Mental or Behavioral Dysfunction 127 8 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6
disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0