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.
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 10 0.400 7 10 2001 2015
CUI: C1854414
Disease: Deafness, Autosomal Recessive 10
Deafness, Autosomal Recessive 10
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 6 0.320 1.000 7 6 2001 2005
CUI: C0004681
Disease: Bagassosis
Bagassosis
disease Occupational Diseases; Respiratory Tract Diseases Disease or Syndrome 14 0.300 1 2017 2017
CUI: C0032273
Disease: Pneumoconiosis
Pneumoconiosis
disease Occupational Diseases; Respiratory Tract Diseases Disease or Syndrome 21 2 0.300 1 2017 2017
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 6 1 2003 2018
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 35 4 0.040 1.000 4 2001 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.040 1.000 4 2001 2012
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 1328 197 0.040 1.000 4 2001 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 90 18 0.040 0.750 4 2002 2015
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.040 1.000 4 2001 2012
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.020 1.000 2 2001 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.020 1.000 2 2016 2017
CUI: C1258666
Disease: Myxoid cyst
Myxoid cyst
disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 208 5 0.020 1.000 2 2003 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.020 1.000 2 2016 2017
CUI: C0011053
Disease: Deafness
Deafness
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Finding 272 1 0.010 1 2004 2004
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.010 1.000 1 2001 2001
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.010 1 2003 2003
Nodular Sclerosis Classical Hodgkin Lymphoma
disease Neoplastic Process 45 14 0.010 < 0.001 1 2003 2003
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1868 225 0.010 1.000 1 2000 2000
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 31 18 0.010 1.000 1 2009 2009
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 3 0.010 1.000 1 2003 2003
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.010 1.000 1 2017 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Neoplastic Process 2089 36 0.010 1.000 1 2016 2016
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast
disease Neoplastic Process 26 1 0.010 1.000 1 2016 2016
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease Congenital Abnormality 288 7 0.010 1.000 1 2009 2009