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: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		disease Disease or Syndrome 1 1 0.740 None 1.000 5 1 2013 2018
CUI: C0271333
Disease: Orbital lymphoma
Orbital lymphoma 		disease Neoplasms; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.010 None 1.000 1 2016 2016
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
Mullerian Aplasia and Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 3 0.010 None 1.000 1 2019 2019
CUI: C0025064
Disease: Mediastinitis
Mediastinitis 		disease Respiratory Tract Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0085270
Disease: Orbital Pseudotumor
Orbital Pseudotumor 		disease Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 9 0.300 None 1.000 1 2013 2013
CUI: C0275814
Disease: Streptococcal lymphadenitis of swine
Streptococcal lymphadenitis of swine 		disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2016 2016
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis 		phenotype Digestive System Diseases; Neoplasms Finding 13 5 0.100 None 0
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency 		disease Immune System Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2020 2020
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 17 16 0.010 None 1.000 1 2018 2018
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 19 1 0.030 None 1.000 3 2014 2016
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 28 0.010 None 1.000 1 2016 2016
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 0.300 None 1.000 1 2013 2013
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2013 2013
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2013 2013
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2013 2013
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2013 2013
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 2 0.300 None 1.000 1 2013 2013
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		disease Neoplasms Neoplastic Process 42 8 0.010 None 1.000 1 2018 2018
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		disease Endocrine System Diseases Disease or Syndrome 42 8 0.300 None 1.000 1 2013 2013
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		disease Neoplastic Process 42 7 0.010 None 1.000 1 2018 2018
CUI: C0334294
Disease: Multiple adenomatous polyps
Multiple adenomatous polyps 		disease Neoplasms Neoplastic Process 43 5 0.010 None 1.000 1 2017 2017