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: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
disease Neoplasms Neoplastic Process 115 1 0.800 limited 0.976 42 1995 2019
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.300 None 1.000 1 2019 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.300 None 1.000 1 2019 2019
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.300 None 1.000 1 2019 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.300 None 1.000 1 2019 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.300 None 1.000 1 2019 2019
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.300 None 1.000 1 2019 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.100 None 1.000 29 1994 2019
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.100 None 1.000 27 1994 2019
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.100 None 1.000 27 1994 2019
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 59 0.100 None 1.000 15 1995 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.800 10 1997 2018
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.100 None 1.000 4 6 2010 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 1.000 2 3 2017 2017
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 85 28 0.100 None 1.000 1 2 2017 2017
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 121 8 0.090 None 0.889 9 2002 2015
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.050 None 1.000 5 2006 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 0.040 None 1.000 4 2016 2018
Childhood Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 67 7 0.030 None 1.000 3 2003 2014
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
disease Neoplasms Neoplastic Process 517 25 0.030 None 1.000 3 2017 2018
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.030 None 1.000 3 2017 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2014 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2000 2011
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.020 None 1.000 2 1 2013 2015