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: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 27 210 0.630 None 0.667 3 3 2016 2019
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2007 2007
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2007 2007
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 74 9 0.110 None 1.000 2 3 2016 2018
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens 		disease Congenital Abnormality 10 0.110 None 1.000 1 2019 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.110 None 1.000 1 2018 2018
CUI: C0021359
Disease: Infertility
Infertility 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 130 5 0.100 None 1.000 1 3 2016 2016
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease Male Urogenital Diseases Disease or Syndrome 217 72 0.100 None 0
CUI: C4310815
Disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED 		disease Disease or Syndrome 1 3 0.100 None 0 3
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		disease Congenital Abnormality 35 3 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2013 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2013 2013
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2017 2017
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 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2017 2017
CUI: C0403813
Disease: Congenital obstructive azoospermia
Congenital obstructive azoospermia 		disease Male Urogenital Diseases Congenital Abnormality 1 0.010 None 1.000 1 2016 2016
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.010 None 1.000 1 2019 2019
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		disease Endocrine System Diseases Disease or Syndrome 115 39 0.010 None 1.000 1 2017 2017
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 104 9 0.010 None 1.000 1 2017 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2013 2013
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.010 None 1.000 1 2019 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2013 2013
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.010 None 1.000 1 2013 2013