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: C4479517
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		disease Disease or Syndrome 1 8 0.600 strong 1.000 1 8 2014 2014
CUI: C0751886
Disease: Brain Stem Neoplasms, Primary
Brain Stem Neoplasms, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 None 1.000 1 2014 2014
CUI: C0751888
Disease: Mesencephalic Neoplasms
Mesencephalic Neoplasms 		disease Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 None 1.000 1 2014 2014
CUI: C0751889
Disease: Pontine Tumors
Pontine Tumors 		group Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 None 1.000 1 2014 2014
CUI: C0677866
Disease: Brain Stem Neoplasms
Brain Stem Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 8 0.300 None 1.000 1 2014 2014
CUI: C0751887
Disease: Medullary Neoplasms
Medullary Neoplasms 		disease Neoplasms; Nervous System Diseases Neoplastic Process 8 0.300 None 1.000 1 2014 2014
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 41 83 0.010 None 1.000 1 2017 2017
CUI: C1292780
Disease: Therapy-related myelodysplastic syndrome
Therapy-related myelodysplastic syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 42 0.010 None 1.000 1 2017 2017
CUI: C4722328
Disease: Hereditary Prostate Carcinoma
Hereditary Prostate Carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 45 12 0.010 None 1.000 1 2016 2016
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 49 30 0.010 None 1.000 1 2017 2017
CUI: C0263874
Disease: Degeneration of lumbar intervertebral disc
Degeneration of lumbar intervertebral disc 		disease Musculoskeletal Diseases Disease or Syndrome 50 6 0.010 None 1.000 1 2017 2017
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		phenotype Skin and Connective Tissue Diseases Finding 60 5 0.100 None 0
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.010 None 1.000 1 2004 2004
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.010 None 1.000 1 2004 2004
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2008 2008
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 0
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 1.000 1 2014 2014
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 87 9 0.010 None 1.000 1 2019 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		phenotype Laboratory Procedure 90 174 0.100 None 1.000 1 1 2019 2019
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.100 None 0
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane 		disease Eye Diseases Acquired Abnormality 102 0.010 None 1.000 1 2017 2017
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		disease Neoplastic Process 103 0.010 None 1.000 1 2009 2009
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.010 None 1.000 1 2016 2016
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0