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: C3178817
Disease: Paraneoplastic Syndromes, Ocular
Paraneoplastic Syndromes, Ocular
disease Neoplasms; Eye Diseases Disease or Syndrome 1 0.200 None 1.000 1 1999 1999
CUI: C2673697
Disease: Dystonia with Cerebellar Atrophy
Dystonia with Cerebellar Atrophy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 15 0.010 None 1.000 1 2019 2019
CUI: C0392663
Disease: Infection by Wuchereria bancrofti
Infection by Wuchereria bancrofti
disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 1989 1989
X-Linked Emery-Dreifuss Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 20 33 0.010 None 1.000 1 2014 2014
CUI: C1281914
Disease: Corneal allograft rejection
Corneal allograft rejection
disease Disease or Syndrome 21 3 0.010 None 1.000 1 2019 2019
Adult Extraskeletal Myxoid Chondrosarcoma
disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2017 2017
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.310 None 1.000 2 2012 2014
CUI: C0860594
Disease: Malignant melanoma, metastatic
Malignant melanoma, metastatic
disease Neoplasms Neoplastic Process 29 5 0.010 None 1.000 1 2005 2005
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes
disease Mental Disorders Mental or Behavioral Dysfunction 31 6 0.010 None 1.000 1 1 2014 2014
CUI: C0016085
Disease: Filariasis
Filariasis
disease Infections Disease or Syndrome 32 0.010 None 1.000 1 1989 1989
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 142 0.010 None 1.000 1 2016 2016
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight
phenotype Sign or Symptom 42 2 0.010 None 1.000 1 2003 2003
CUI: C0848332
Disease: Spots on skin
Spots on skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 43 0.010 None 1.000 1 2014 2014
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma
disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 2017 2017
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 54 4 0.010 None 1.000 1 2004 2004
CUI: C0334663
Disease: Histiocytic sarcoma
Histiocytic sarcoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 69 8 0.010 None 1.000 1 1993 1993
CUI: C0024302
Disease: Reticulosarcoma
Reticulosarcoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 80 2 0.010 None 1.000 1 1993 1993
CUI: C0035869
Disease: Rotavirus Infections
Rotavirus Infections
group Infections Disease or Syndrome 84 0.010 None 1.000 1 2007 2007
CUI: C0006840
Disease: Candidiasis
Candidiasis
disease Infections Disease or Syndrome 95 8 0.010 None 1.000 1 2018 2018
CUI: C0036117
Disease: Salmonella infections
Salmonella infections
group Infections Disease or Syndrome 96 0.010 None 1.000 1 2018 2018
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin
disease Neoplasms Neoplastic Process 103 3 0.010 None 1.000 1 2004 2004
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell
disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2004 2004
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform
disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2004 2004
CUI: C0034494
Disease: Rabies (disorder)
Rabies (disorder)
disease Infections Disease or Syndrome 123 0.010 None 1.000 1 2017 2017