PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
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 1.000 None 0.983 115 1993 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.100 None 0.988 82 1994 2019
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.100 None 0.986 72 1994 2019
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.100 None 0.986 71 1994 2019
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 59 0.300 None 1.000 60 1993 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.966 59 1996 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.935 31 1995 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.400 None 0.905 21 1988 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.947 19 1997 2019
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.100 None 0.933 15 1998 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.929 14 1997 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 1.000 12 2003 2019
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.090 None 1.000 9 1995 2018
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 67 7 0.080 None 1.000 8 2000 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.380 None 1.000 8 1995 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.080 None 1.000 8 2012 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.170 None 1.000 7 1994 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2011 2019
CUI: C0266508
Disease: Rachischisis
Rachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 0.300 None 1.000 4 1984 2007
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.040 None 1.000 4 1996 2015
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.040 None 1.000 4 2015 2020
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 4 1984 2007
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.040 None 1.000 4 2015 2020
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 1.000 4 2001 2007
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		disease Neoplasms Neoplastic Process 517 25 0.040 None 1.000 4 1995 2007