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: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple
disease Congenital Abnormality 33 1 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C1842680
Disease: Small earlobe
Small earlobe
phenotype Finding 17 1 0.100 None 0
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding)
phenotype Finding 7 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
disease Disease or Syndrome 1 1 0.400 None 0 1
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.030 None 0.667 3 2002 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.030 None 0.667 3 2002 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.957 23 1992 2019
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.080 None 1.000 8 2002 2020
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 4 7 2017 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.040 None 1.000 4 2015 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.040 None 1.000 4 2015 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 1.000 4 1995 2019
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
group Neoplasms Neoplastic Process 491 20 0.040 None 1.000 4 2017 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2013 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.030 None 1.000 3 1999 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.210 None 1.000 2 1995 2004
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
disease Neoplasms; Endocrine System Diseases Neoplastic Process 330 71 0.020 None 1.000 2 2001 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 1992 2001
Polycystic Kidney, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.020 None 1.000 2 2019 2019
CUI: C0024586
Disease: Malignant Carcinoid Syndrome
Malignant Carcinoid Syndrome
disease Neoplasms Disease or Syndrome 25 0.020 None 1.000 2 2017 2018
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 2001 2005
CUI: C0033375
Disease: Prolactinoma
Prolactinoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 187 6 0.020 None 1.000 2 2018 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.020 None 1.000 2 1992 2000