PAX7, paired box 7, 5081

N. diseases: 78; N. variants: 8
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: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 1997 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2013 2013
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 6 0.010 None 1.000 1 2009 2009
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		disease Neoplasms Neoplastic Process 299 4 0.010 None 1.000 1 2018 2018
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms 		group Neoplasms Neoplastic Process 145 0.010 None 1.000 1 1997 1997
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2017 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2015 2015
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.010 None 1.000 1 2018 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.010 None 1.000 1 2017 2017
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None 1.000 1 2014 2014
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.010 None 1.000 1 2019 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2019 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.010 None 1.000 1 2017 2017
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.010 None 1.000 1 2015 2015
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.010 None 1.000 1 2004 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2000 2000
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2000 2000
CUI: C0006370
Disease: Bulimia
Bulimia 		disease Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 76 30 0.010 None 1.000 1 2017 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2017 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2018 2018
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 2017 2017
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.020 None 1.000 2 1 2013 2015
CUI: C4054913
Disease: Fusion-Negative Rhabdomyosarcoma
Fusion-Negative Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 3 0.020 None 1.000 2 2016 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.020 None 1.000 2 2017 2019
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.020 None 1.000 2 2017 2019