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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom
phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 133 12 0.140 None 0.750 4 2002 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 1.000 4 1 2002 2017
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.030 None 1.000 3 3 2002 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2018 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None < 0.001 1 2004 2004
CUI: C0021670
Disease: insulinoma
insulinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 258 8 0.010 None 1.000 1 2018 2018
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 145 156 0.010 None 1.000 1 2018 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2004 2004
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms
group Neoplasms; Endocrine System Diseases Neoplastic Process 104 9 0.010 None 1.000 1 2019 2019
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
group Neoplasms Neoplastic Process 491 20 0.010 None 1.000 1 2020 2020
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.010 None 1.000 1 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 74 22 0.010 None 1.000 1 2018 2018
CUI: C1305409
Disease: Atypical adenoma
Atypical adenoma
disease Neoplasms Neoplastic Process 5 1 0.010 None 1.000 1 1 2017 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None < 0.001 1 2004 2004
Well Differentiated Pancreatic Endocrine Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 117 3 0.010 None 1.000 1 2018 2018
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.100 None 0
CUI: C0039621
Disease: Tetany
Tetany
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding 24 1 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
Decreased circulating parathyroid hormone level
phenotype Finding 4 0.100 None 0
Elevated circulating parathyroid hormone level
phenotype Finding 18 1 0.100 None 0
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE
phenotype Finding 21 0.100 None 0