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: C0848548
Disease: hypertensive nephropathy
hypertensive nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 55 8 0.300 strong 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 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
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0221373
Disease: Claw hand
Claw hand 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 63 3 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		disease Disease or Syndrome 29 8 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0 1
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: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C1832338
Disease: Axonal loss
Axonal loss 		phenotype Finding 16 0.100 None 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 0.100 None 0
CUI: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy 		disease Disease or Syndrome 8 1 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0 1
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.300 strong 0
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2009 2009
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 53 0.300 None 1.000 1 2010 2010
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 None 1.000 1 2010 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2012 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2013 2013
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.010 None 1.000 1 2013 2013
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.010 None 1.000 1 2013 2013
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.010 None 1.000 1 2014 2014