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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2011 2011
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2017 2017
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.010 None 1.000 1 2017 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 1 2012 2012
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 42 0.010 None 1.000 1 2001 2001
CUI: C0034960
Disease: Refsum Disease
Refsum Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 14 0.010 None 1.000 1 2013 2013
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2017 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2019 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.010 None 1.000 1 1 2012 2012
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None < 0.001 1 2017 2017
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.010 None 1.000 1 2018 2018
CUI: C0585006
Disease: Deficiency of enoyl-CoA hydratase
Deficiency of enoyl-CoA hydratase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2017 2017
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2001 2001
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.010 None 1.000 1 2018 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2017 2017
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.010 None 1.000 1 2001 2001
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29 0.010 None 1.000 1 2018 2018
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 208 93 0.010 None 1.000 1 1 2010 2010
CUI: C1533628
Disease: Pseudo-Zellweger syndrome
Pseudo-Zellweger syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.010 None 1.000 1 2001 2001
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2011 2011
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2017 2017
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.010 None 1.000 1 2017 2017