RIEG2, Rieger syndrome 2, 6012

N. diseases: 38; N. variants: 0
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: C1510420
Disease: Cavitation
Cavitation 		disease Anatomical Abnormality 47 0.010 None 1.000 1 2018 2018
CUI: C3160821
Disease: Viral uveitis
Viral uveitis 		disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4524073
Disease: Low anterior resection syndrome
Low anterior resection syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2006 2006
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2004 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2004 2004
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.010 None 1.000 1 2018 2018
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 23 7 0.010 None 1.000 1 2002 2002
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 22 7 0.010 None 1.000 1 2002 2002
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.020 None 1.000 2 2010 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.010 None 1.000 1 2019 2019
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 18 15 0.050 None 0.800 5 2002 2006
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.010 None 1.000 1 2006 2006
CUI: C1840283
Disease: ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 0.010 None 1.000 1 2018 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.020 None 1.000 2 2017 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.010 None 1.000 1 2019 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2016 2016
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		disease Infections Disease or Syndrome 158 19 0.010 None 1.000 1 2018 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2006 2006
CUI: C0027121
Disease: Myositis
Myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.010 None 1.000 1 2020 2020
CUI: C0085655
Disease: Polymyositis
Polymyositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 2015 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2015 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2020 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2010 2010