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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 137 46 1.000 0.948 230 24 1997 2018
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 9 8 1.000 0.981 66 8 1997 2016
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 15 16 1.000 0.917 46 15 1997 2016
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 17 0.900 21 17 1998 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.800 0.970 241 1 1997 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.800 strong 0.969 134 2 1995 2016
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.800 0.954 89 4 1997 2017
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 933 288 0.800 0.923 16 3 1998 2016
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Neoplasms Disease or Syndrome 2 15 0.750 1.000 31 15 1997 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.700 0.964 173 2 1997 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.700 strong 0.971 143 1 1997 2018
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.700 0.953 133 2 1997 2018
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 11 90 0.700 definitive 0.947 95 90 1997 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.700 0.933 31 1 1998 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.700 0.960 29 2001 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1347 175 0.700 1.000 24 3 1998 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.660 0.800 7 1998 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.630 strong 1.000 8 2001 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 300 203 0.630 1.000 4 2 2000 2016
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.600 0.960 57 1 1997 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplastic Process 576 106 0.600 0.976 41 1999 2016
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 720 81 0.600 strong 0.941 35 1993 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.600 1.000 30 1 1998 2017
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 237 39 0.600 1.000 22 1997 2014
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Neoplasms Neoplastic Process 5 1 0.600 0.889 12 2001 2015