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: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2006 2006
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 20 35 0.300 None 1.000 1 2007 2007
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.300 None 1.000 1 2001 2001
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 16 0.300 None 0
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.200 None 0.965 57 9 2001 2019
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 45 5 0.200 None 1.000 1 1998 1998
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.170 None 0.857 7 2 1999 2014
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.120 None 1.000 2 1 2007 2010
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease Disease or Syndrome 45 1 0.120 None 1.000 2 1995 1998
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.120 None 1.000 2 2003 2007
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.120 None 1.000 2 2015 2015
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2013 2013
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
disease Neoplasms Neoplastic Process 297 33 0.110 None 1.000 1 2004 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 1995 1995
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.110 None 1.000 1 2012 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.110 None 1.000 1 1 2012 2012
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 1997 1997
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.110 None 1.000 1 2002 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.932 59 8 2000 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.100 None 0.948 58 9 2001 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.929 56 8 2000 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.100 None 0.964 56 9 2001 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0.897 39 11 1995 2019