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: C0029166
Disease: Oral Manifestations
Oral Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom 7 0.010 None 1.000 1 2011 2011
CUI: C2931015
Disease: Dandy Walker variant
Dandy Walker variant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2009 2009
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2014 2014
Recurrent respiratory tract infections
disease Disease or Syndrome 14 0.010 None 1.000 1 2013 2013
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.010 None 1.000 1 2015 2015
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.010 None 1.000 1 2009 2009
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.010 None 1.000 1 2009 2009
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2004 2004
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2006 2006
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 0.010 None 1.000 1 2018 2018
Monoclonal Gammopathy of Undetermined Significance
disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 227 20 0.010 None 1.000 1 2009 2009
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.010 None 1.000 1 2009 2009
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 9 0.010 None 1.000 1 2014 2014
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2019 2019
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.010 None 1.000 1 2012 2012
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma
disease Neoplasms Neoplastic Process 65 2 0.010 None 1.000 1 2009 2009
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2017 2017
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2009 2009
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.020 None 1.000 2 2009 2013
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 1 0.030 None 1.000 3 2009 2018
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.030 None 1.000 3 1998 2013
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia
disease Musculoskeletal Diseases Disease or Syndrome 25 0.040 None 1.000 4 1998 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 1.000 4 1998 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 14 1 2000 2016