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.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
disease Disease or Syndrome 1 5 0.700 None 1.000 7 5 2010 2017
Hereditary Sensory Autonomic Neuropathy, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 14 0.580 None 1.000 8 2 2010 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.300 strong 1.000 1 2010 2010
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 52 46 0.300 strong 1.000 1 2010 2010
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.200 None 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C0392699
Disease: Dysesthesia
Dysesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 3 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 93 21 0.100 None 0
CUI: C1833222
Disease: Autoamputation
Autoamputation
phenotype Finding 2 0.100 None 0
Distal sensory impairment of all modalities
phenotype Finding 9 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
disease Finding 1 1 0.100 None 0 1
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 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: C0016506
Disease: Foot Deformities
Foot Deformities
group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.100 None 0
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.100 None 0
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.020 None 1.000 2 2002 2016
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 2 0.020 None 1.000 2 1 2002 2016
Hereditary Sensory and Autonomic Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.020 None 1.000 2 2016 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.010 None 1.000 1 2018 2018
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy
disease Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2016 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2018 2018
CUI: C0018932
Disease: Hematochezia
Hematochezia
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 37 12 0.010 None 1.000 1 2018 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2017 2017