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: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		disease Disease or Syndrome 1 8 0.700 strong 1.000 3 8 2014 2017
CUI: C0851445
Disease: Haematopoietic neoplasms (excl leukaemias and lymphomas)
Haematopoietic neoplasms (excl leukaemias and lymphomas) 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2009 2009
CUI: C1719306
Disease: Refractory cytopenia with multilineage dysplasia (RCMD)
Refractory cytopenia with multilineage dysplasia (RCMD) 		disease Disease or Syndrome 2 0.010 None < 0.001 1 2010 2010
CUI: C4024928
Disease: Absent smooth pursuit
Absent smooth pursuit 		phenotype Finding 3 0.100 None 0
CUI: C1268964
Disease: Myelodysplastic syndrome, no ICD-O subtype
Myelodysplastic syndrome, no ICD-O subtype 		disease Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 1993 1993
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
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: 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
CUI: C0272024
Disease: Secondary acquired sideroblastic anemia
Secondary acquired sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2008 2008
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		disease Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		phenotype Finding 9 0.100 None 0
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: C0796466
Disease: Refractory cytopenia with multilineage dysplasia
Refractory cytopenia with multilineage dysplasia 		disease Hemic and Lymphatic Diseases Neoplastic Process 11 1 0.010 None < 0.001 1 2010 2010
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		phenotype Finding 14 2 0.100 None 0
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype Finding 17 8 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 21 5 0.100 None 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype Finding 29 6 0.400 None 1.000 1 2014 2014
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 30 0.010 None 1.000 1 2 2017 2017
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.040 None 1.000 4 2002 2016
CUI: C2981142
Disease: Refractory anemia, without ringed sideroblasts, without excess blasts
Refractory anemia, without ringed sideroblasts, without excess blasts 		disease Hemic and Lymphatic Diseases Disease or Syndrome 38 2 0.020 None 1.000 2 2009 2015
CUI: C1301355
Disease: Myelodysplastic-Myeloproliferative Diseases
Myelodysplastic-Myeloproliferative Diseases 		group Hemic and Lymphatic Diseases Neoplastic Process 38 1 0.010 None 1.000 1 2015 2015
CUI: C1292779
Disease: Myelodysplastic Syndrome with Isolated del(5q)
Myelodysplastic Syndrome with Isolated del(5q) 		disease Hemic and Lymphatic Diseases Neoplastic Process 41 1 0.030 None 1.000 3 2005 2008
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 1 0.030 None 1.000 3 2005 2008