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: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
disease Pathologic Function 34 3 0.100 None 0
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation
phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Finding 14 3 0.400 None 1.000 1 2012 2012
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0 2
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration
phenotype Finding 8 0.100 None 0
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis
phenotype Sign or Symptom 10 0.010 None 1.000 1 2017 2017
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.010 None 1.000 1 2012 2012
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 4 143 0.200 None 1.000 6 1990 2009
Alport Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 8 2 0.200 None 1.000 6 1990 2009
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 3 0.200 None 1.000 6 1990 2009
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None < 0.001 1 2017 2017
CUI: C0003079
Disease: Anisocoria
Anisocoria
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 7 5 0.100 None 0 2
CUI: C0442833
Disease: Arteriolar hyalinosis
Arteriolar hyalinosis
disease Acquired Abnormality 7 0.010 None 1.000 1 2017 2017
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis
disease Cardiovascular Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2017 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 1 1 2013 2013
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 59 13 0.010 None 1.000 1 2019 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0 2
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 0 2
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.310 strong 1.000 2 2008 2014
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.110 None 1.000 1 2009 2009
CUI: C0009197
Disease: Cochlear Diseases
Cochlear Diseases
group Otorhinolaryngologic Diseases Disease or Syndrome 6 0.300 None 1.000 1 2009 2009
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2006 2006
Decreased distal sensory nerve action potential
phenotype Finding 2 0.100 None 0