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.
Congenital bilateral aplasia of vas deferens
disease Male Urogenital Diseases Congenital Abnormality 27 210 0.630 None 0.667 3 3 2016 2019
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2013 2019
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: 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: C0403813
Disease: Congenital obstructive azoospermia
Congenital obstructive azoospermia
disease Male Urogenital Diseases Congenital Abnormality 1 0.010 None 1.000 1 2016 2016
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: 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: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2017 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2013 2013
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: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2007 2007
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: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 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: 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: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.110 None 1.000 1 2018 2018
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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2007 2007
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
CUI: C0028960
Disease: Oligospermia
Oligospermia
disease Male Urogenital Diseases Disease or Syndrome 217 72 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
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