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: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 106 56 0.720 7 3 1998 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.700 6 1 1988 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 589 66 0.640 1.000 6 1 2001 2015
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive
disease Neoplasms Neoplastic Process 113 1 0.510 1.000 1 1998 1998
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 107 11 0.400 strong 1 2017 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.400 strong 1 2017 2017
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 0.400 limited 1 2017 2017
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma
disease Neoplasms Neoplastic Process 56 1 0.320 1.000 3 2014 2015
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 437 21 0.320 1.000 2 1 2013 2013
CUI: C1335107
Disease: Olfactory Groove Meningioma
Olfactory Groove Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.310 1.000 2 2013 2017
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 28 0.300 2 1998 2016
CUI: C0917730
Disease: Female sterility
Female sterility
phenotype Female Urogenital Diseases and Pregnancy Complications Finding 28 0.300 1 2017 2017
CUI: C0751304
Disease: Parasagittal Meningioma
Parasagittal Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 1 2013 2013
CUI: C0259785
Disease: Malignant Meningioma
Malignant Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 40 0.300 1 2013 2013
CUI: C1334271
Disease: Intraventricular Meningioma
Intraventricular Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 1 2013 2013
Cerebral Primitive Neuroectodermal Tumor
disease Neoplasms Neoplastic Process 10 0.300 1 1998 1998
CUI: C1334261
Disease: Intraorbital Meningioma
Intraorbital Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 1 2013 2013
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 322 90 0.300 1 2016 2016
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
disease Neoplasms; Nervous System Diseases Neoplastic Process 165 3 0.300 1 1998 1998
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 28 0.300 1 2017 2017
CUI: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple
disease Neoplasms; Nervous System Diseases Neoplastic Process 20 0.300 1 2013 2013
CUI: C0751303
Disease: Cerebral Convexity Meningioma
Cerebral Convexity Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 1 2013 2013
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 27 0.300 1 2013 2013
CUI: C0334584
Disease: Spongioblastoma
Spongioblastoma
disease Neoplasms Neoplastic Process 8 0.300 1 1998 1998
CUI: C0457190
Disease: Xanthomatous Meningioma
Xanthomatous Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 1 2013 2013