RARS1, arginyl-tRNA synthetase 1, 5917

N. diseases: 94; N. variants: 9
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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2018 2018
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
disease Neoplasms Neoplastic Process 91 8 0.010 None 1.000 1 2007 2007
CUI: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes
disease Hemic and Lymphatic Diseases Neoplastic Process 11 0.010 None 1.000 1 1995 1995
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.010 None 1.000 1 2020 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 None 1.000 1 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 1 2015 2015
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement
disease Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
Refractory cytopenia with multilineage dysplasia
disease Hemic and Lymphatic Diseases Neoplastic Process 11 1 0.010 None < 0.001 1 2010 2010
Haematopoietic neoplasms (excl leukaemias and lymphomas)
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2009 2009
Myelodysplastic syndrome, no ICD-O subtype
disease Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 1993 1993
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.010 None 1.000 1 2016 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2007 2007
Refractory cytopenia with multilineage dysplasia (RCMD)
disease Disease or Syndrome 2 0.010 None < 0.001 1 2010 2010
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
disease Neoplastic Process 350 19 0.010 None 1.000 1 2005 2005
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
Pontocerebellar Hypoplasia Type 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 5 13 0.010 None 1.000 1 2018 2018
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 19 0.010 None 1.000 1 2018 2018
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.010 None 1.000 1 2009 2009
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2018 2018
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2017 2017
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
disease Neoplasms Neoplastic Process 786 118 0.010 None 1.000 1 2018 2018
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None 1.000 1 2009 2009
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
disease Nervous System Diseases Disease or Syndrome 182 46 0.010 None 1.000 1 2020 2020
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0