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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
group Respiratory Tract Diseases Disease or Syndrome 319 144 0.050 None 0.800 5 2017 2020
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.020 None 1.000 2 2017 2019
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.020 None 1.000 2 2015 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2010 2015
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 235 34 0.020 None 1.000 2 2015 2020
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2010 2015
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.010 None 1.000 1 2018 2018
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: C4524073
Disease: Low anterior resection syndrome
Low anterior resection syndrome
disease Disease or Syndrome 4 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: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma
disease Skin and Connective Tissue Diseases Congenital Abnormality 10 1 0.010 None 1.000 1 2005 2005
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2015 2015
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2020 2020
CUI: C1510420
Disease: Cavitation
Cavitation
disease Anatomical Abnormality 47 0.010 None 1.000 1 2018 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2017 2017
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: C3160821
Disease: Viral uveitis
Viral uveitis
disease 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: C0085655
Disease: Polymyositis
Polymyositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 2015 2015
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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2006 2006
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2015 2015