DUX4, double homeobox 4, 100288687

N. diseases: 79; N. variants: 0
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: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 1 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		phenotype Finding 39 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C0023453
Disease: L2 Acute Lymphoblastic Leukemia
L2 Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 53 0.300 None 1.000 1 2016 2016
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 145 21 0.300 None 1.000 1 2016 2016
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 0.010 None 1.000 1 2017 2017
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 2017 2017
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma 		disease Neoplasms Neoplastic Process 10 0.010 None < 0.001 1 2018 2018
CUI: C0279622
Disease: Small cell osteosarcoma
Small cell osteosarcoma 		disease Neoplasms Neoplastic Process 13 0.010 None < 0.001 1 2015 2015
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 2009 2009
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 2017 2017
CUI: C4727985
Disease: Ewing-like sarcoma
Ewing-like sarcoma 		disease Neoplastic Process 10 0.010 None 1.000 1 2017 2017
CUI: C2219809
Disease: Generalized muscle wasting
Generalized muscle wasting 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2019 2019
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 43 0.010 None 1.000 1 2014 2014
CUI: C0282607
Disease: Vascular Neoplasms
Vascular Neoplasms 		group Neoplasms; Cardiovascular Diseases Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C1332966
Disease: Childhood Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2014 2014
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 2014 2014
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		disease Neoplasms Neoplastic Process 270 22 0.010 None 1.000 1 2017 2017