YARS1, tyrosyl-tRNA synthetase 1, 8565

N. diseases: 30; N. variants: 7
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: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C1854454
Disease: Axonal regeneration
Axonal regeneration
phenotype Finding 5 0.100 None 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 351 81 0.030 None 0.667 3 1 2012 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.030 None 0.667 3 1 2012 2019
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 0.080 None 1.000 8 2006 2019
Charcot-Marie-Tooth Disease, Dominant Intermediate C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 4 0.700 strong 1.000 6 4 2003 2016
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.030 None 1.000 3 2006 2017
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 485 24 0.010 None 1.000 1 2015 2015
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2006 2006
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2010 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2019 2019
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 1999 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2015 2015
CUI: C0019693
Disease: HIV Infections
HIV Infections
group Infections; Immune System Diseases Disease or Syndrome 807 142 0.010 None 1.000 1 2019 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2019 2019
Malignant Testicular Germ Cell Tumor
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 128 62 0.010 None 1.000 1 1999 1999
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2006 2006
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 1999 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2015 2015
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 1999 1999
CUI: C0585362
Disease: Squamous cell carcinoma of mouth
Squamous cell carcinoma of mouth
disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 123 1 0.010 None 1.000 1 2019 2019