MYOD1, myogenic differentiation 1, 4654

N. diseases: 106; N. variants: 2
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: C0279614
Disease: Childhood Pleomorphic Rhabdomyosarcoma
Childhood Pleomorphic Rhabdomyosarcoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2009 2009
CUI: C0334480
Disease: Pleomorphic Rhabdomyosarcoma
Pleomorphic Rhabdomyosarcoma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 4 0.010 None 1.000 1 2009 2009
CUI: C1304517
Disease: Extrarenal rhabdoid tumor
Extrarenal rhabdoid tumor 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2000 2000
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		phenotype Finding 7 0.100 None 0
CUI: C1135188
Disease: Critical illness myopathy
Critical illness myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C1266134
Disease: Spindle cell rhabdomyosarcoma
Spindle cell rhabdomyosarcoma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 9 0.030 None 1.000 3 2014 2019
CUI: C4048700
Disease: Sclerosing rhabdomyosarcoma
Sclerosing rhabdomyosarcoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2019 2019
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		phenotype Finding 9 0.100 None 0
CUI: C0033054
Disease: Prenatal Exposure Delayed Effects
Prenatal Exposure Delayed Effects 		disease Female Urogenital Diseases and Pregnancy Complications Injury or Poisoning 13 0.300 None 1.000 1 2011 2011
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		disease Neoplasms Neoplastic Process 16 1 0.010 None < 0.001 1 2019 2019
CUI: C0265699
Disease: Congenital hernia of foramen of Morgagni
Congenital hernia of foramen of Morgagni 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 19 0.300 None 1.000 1 2011 2011
CUI: C0265700
Disease: Congenital hernia of foramen of Bochdalek
Congenital hernia of foramen of Bochdalek 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 21 0.300 None 1.000 1 2011 2011
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 1991 1991
CUI: C0279985
Disease: Childhood Alveolar Soft Part Sarcoma
Childhood Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 1991 1991
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
Metastatic Lung Adenocarcinoma 		disease Neoplasms Neoplastic Process 34 10 0.010 None 1.000 1 2015 2015
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		phenotype Disease or Syndrome 39 0.100 None 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.400 None 1.000 1 2016 2016
CUI: C0085623
Disease: Akinesia
Akinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.100 None 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		disease Neoplasms Neoplastic Process 43 1 0.100 None 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 47 2 0.100 None 0
CUI: C1535510
Disease: ADENOMAS AND ADENOCARCINOMAS
ADENOMAS AND ADENOCARCINOMAS 		group Neoplasms Neoplastic Process 51 2 0.010 None 1.000 1 1997 1997
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease Disease or Syndrome 56 6 0.100 None 0
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 59 0.010 None 1.000 1 2018 2018
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 61 0.020 None 1.000 2 1991 2000
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 67 7 0.040 None 1.000 4 1998 2017