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: C4707793
Disease: Isochromosomy Yp
Isochromosomy Yp
disease Disease or Syndrome 3 0.010 None 1.000 1 1996 1996
CUI: C0396060
Disease: Congenital laryngeal adductor palsy
Congenital laryngeal adductor palsy
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 17 0.010 None 1.000 1 2015 2015
CUI: C0751691
Disease: Perineurioma
Perineurioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 18 3 0.010 None 1.000 1 2005 2005
CUI: C1719494
Disease: PERIODONTITIS, LOCALIZED AGGRESSIVE
PERIODONTITIS, LOCALIZED AGGRESSIVE
disease Stomatognathic Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2018 2018
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
disease Disease or Syndrome 33 28 0.010 None 1.000 1 2019 2019
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.010 None 1.000 1 1996 1996
CUI: C0549297
Disease: Auricular swelling
Auricular swelling
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 49 0.010 None 1.000 1 2018 2018
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.020 None 1.000 2 1983 1996
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 92 2 0.010 None 1.000 1 1998 1998
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2019 2019
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma
disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 1994 1994
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 1994 1994
CUI: C1609538
Disease: Latent Tuberculosis
Latent Tuberculosis
disease Infections Disease or Syndrome 183 18 0.010 None 1.000 1 2019 2019
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 1994 1994
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.010 None 1.000 1 2019 2019
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 296 9 0.010 None 1.000 1 2010 2010
CUI: C0005699
Disease: Blast Phase
Blast Phase
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14 0.010 None 1.000 1 1979 1979
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 1983 1983
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases
group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 2019 2019
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder
group Pathological Conditions, Signs and Symptoms Disease or Syndrome 391 8 0.020 None 1.000 2 2018 2018
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.020 None 1.000 2 2018 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 434 17 0.010 None 1.000 1 2019 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
disease Digestive System Diseases Disease or Syndrome 435 51 0.020 None 1.000 2 2019 2019
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19 0.010 None 1.000 1 2010 2010
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
disease Neoplasms Neoplastic Process 504 42 0.010 None 1.000 1 1994 1994