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: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0
CUI: C0022568
Disease: Keratitis
Keratitis
disease Eye Diseases Disease or Syndrome 156 10 0.100 None 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
phenotype Behavior and Behavior Mechanisms Finding 142 1 0.100 None 0
Hereditary Sensory Autonomic Neuropathy, Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 9 0.300 None 0
Hereditary Sensory Autonomic Neuropathy, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 14 0.300 None 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma
disease Neoplasms Neoplastic Process 143 65 0.300 None 0 1
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury
phenotype Finding 8 0.100 None 0
Postural hypotension with compensatory tachycardia
phenotype Nervous System Diseases; Cardiovascular Diseases Finding 4 2 0.100 None 0
CUI: C0010043
Disease: Corneal Ulcer
Corneal Ulcer
disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits
phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp
phenotype Finding 12 1 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration
phenotype Finding 8 0.100 None 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
Hereditary Sensory Radicular Neuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 0
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin
phenotype Finding 40 1 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.100 None 0