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: C1835829
Disease: Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency due to Defect in MAPBP-Interacting Protein 		disease Immune System Diseases Disease or Syndrome 1 0.600 None 1.000 1 2017 2017
CUI: C4305256
Disease: Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome due to p14 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 strong 1.000 1 2017 2017
CUI: C0853954
Disease: Corneal calcification
Corneal calcification 		phenotype Anatomical Abnormality 10 0.010 None 1.000 1 2017 2017
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		phenotype Finding 10 0.100 None 0
CUI: C0240803
Disease: Primary cerebral lymphoma
Primary cerebral lymphoma 		disease Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 13 0.010 None 1.000 1 2005 2005
CUI: C4068858
Disease: Avascular retina
Avascular retina 		disease Disease or Syndrome 19 0.010 None 1.000 1 2011 2011
CUI: C0332447
Disease: Morphologically abnormal structure (morphologic abnormality)
Morphologically abnormal structure (morphologic abnormality) 		group Anatomical Abnormality 20 0.010 None 1.000 1 2005 2005
CUI: C0919909
Disease: Tonic clonic movements
Tonic clonic movements 		disease Disease or Syndrome 22 0.010 None 1.000 1 2016 2016
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		phenotype Finding 23 1 0.100 None 0
CUI: C0205825
Disease: Liposarcoma, Pleomorphic
Liposarcoma, Pleomorphic 		disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2013 2013
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.100 None 0
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 34 2 0.010 None 1.000 1 2003 2003
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 43 9 0.010 None 1.000 1 2002 2002
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		disease Neoplasms Neoplastic Process 45 0.010 None 1.000 1 2003 2003
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
Blastic plasmacytoid dendritic cell neoplasm 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 2 0.010 None 1.000 1 2001 2001
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 50 67 0.010 None 1.000 1 2010 2010
CUI: C0221269
Disease: Pseudolymphoma
Pseudolymphoma 		disease Hemic and Lymphatic Diseases Neoplastic Process 58 0.010 None 1.000 1 2011 2011
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 61 4 0.010 None 1.000 1 1990 1990
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 66 26 0.020 None 1.000 2 2007 2009
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 1998 1998
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 68 11 0.320 strong 1.000 3 2007 2017
CUI: C0677055
Disease: CARCINOMA OF VULVA
CARCINOMA OF VULVA 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 72 2 0.010 None 1.000 1 2006 2006
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2007 2007
CUI: C0600041
Disease: Infective cystitis
Infective cystitis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 106 0.010 None 1.000 1 2013 2013
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 118 12 0.010 None 1.000 1 2012 2012