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: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 18 0.010 None 1.000 1 2014 2014
CUI: C1609535
Disease: Invasive Candidiasis
Invasive Candidiasis 		disease Infections Disease or Syndrome 20 0.010 None 1.000 1 2019 2019
CUI: C0039496
Disease: Temporomandibular Joint Dysfunction Syndrome
Temporomandibular Joint Dysfunction Syndrome 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 2014 2014
CUI: C0151814
Disease: Coronary Occlusion
Coronary Occlusion 		disease Cardiovascular Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2017 2017
CUI: C0280302
Disease: Squamous cell carcinoma of lip
Squamous cell carcinoma of lip 		disease Neoplasms; Skin and Connective Tissue Diseases; Stomatognathic Diseases Neoplastic Process 32 2 0.010 None 1.000 1 2018 2018
CUI: C0474808
Disease: Follicular neoplasm
Follicular neoplasm 		disease Neoplasms Neoplastic Process 68 5 0.010 None 1.000 1 2017 2017
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.010 None 1.000 1 2016 2016
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		disease Neoplastic Process 71 3 0.010 None 1.000 1 2013 2013
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis 		disease Infections Disease or Syndrome 73 0.010 None 1.000 1 2019 2019
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma 		disease Neoplasms Neoplastic Process 81 2 0.010 None 1.000 1 2017 2017
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.010 None 1.000 1 2014 2014
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 84 1 0.010 None 1.000 1 2017 2017
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.010 None 1.000 1 2017 2017
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.010 None 1.000 1 2019 2019
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.010 None 1.000 1 2019 2019
CUI: C1834582
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
MYELOPROLIFERATIVE SYNDROME, TRANSIENT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 105 9 0.010 None 1.000 1 2014 2014
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.010 None 1.000 1 2017 2017
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.010 None 1.000 1 2020 2020
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.010 None 1.000 1 2020 2020
CUI: C0585362
Disease: Squamous cell carcinoma of mouth
Squamous cell carcinoma of mouth 		disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 123 1 0.010 None 1.000 1 2018 2018
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.010 None 1.000 1 2017 2017
CUI: C0314719
Disease: Dryness of eye
Dryness of eye 		phenotype Eye Diseases Sign or Symptom 149 1 0.010 None 1.000 1 2017 2017
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2013 2013
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes 		disease Eye Diseases Disease or Syndrome 156 1 0.010 None 1.000 1 2017 2017