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: C1850407
Disease: Navajo Familial Neurogenic Arthropathy
Navajo Familial Neurogenic Arthropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4024920
Disease: Decreased distal sensory nerve action potential
Decreased distal sensory nerve action potential 		phenotype Finding 2 0.100 None 0
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: C1864975
Disease: Osteomyelitis leading to amputation due to slow healing fractures
Osteomyelitis leading to amputation due to slow healing fractures 		phenotype Infections; Musculoskeletal Diseases Finding 3 1 0.100 None 0
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 28 0.760 None 1.000 24 27 2006 2019
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 1 0.230 None 1.000 9 1990 2017
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 4 143 0.200 None 1.000 6 1990 2009
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.030 None 1.000 3 1995 2019
CUI: C1850413
Disease: Reye syndrome-like episodes
Reye syndrome-like episodes 		phenotype Finding 4 0.100 None 0
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 1999 1999
CUI: C1456276
Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) 		disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4021583
Disease: Impaired distal tactile sensation
Impaired distal tactile sensation 		phenotype Finding 5 0.100 None 0
CUI: C0009197
Disease: Cochlear Diseases
Cochlear Diseases 		group Otorhinolaryngologic Diseases Disease or Syndrome 6 0.300 None 1.000 1 2009 2009
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.300 None 1.000 1 2009 2009
CUI: C0442833
Disease: Arteriolar hyalinosis
Arteriolar hyalinosis 		disease Acquired Abnormality 7 0.010 None 1.000 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: C1567744
Disease: Alport Syndrome, Autosomal Recessive
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: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		phenotype Finding 8 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		phenotype Finding 8 0.100 None 0
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 9 0.100 None 0
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		disease Musculoskeletal Diseases Congenital Abnormality 9 0.100 None 0
CUI: C0949855
Disease: Electron Transport Chain Deficiencies, Mitochondrial
Electron Transport Chain Deficiencies, Mitochondrial 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.300 None 1.000 1 2009 2009
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2017 2017
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 11 0.100 None 0
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2017 2017