ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 21 2 1992 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2007 2017
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia
disease Neoplastic Process 255 2 0.020 None 1.000 2 2008 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.110 None 1.000 1 2003 2003
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2017 2017
CUI: C0279821
Disease: metastatic pheochromocytoma
metastatic pheochromocytoma
disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 3 2018 2018
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2016 2016
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2016 2016
CUI: C1332899
Disease: Cerebellar Glioblastoma
Cerebellar Glioblastoma
disease Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C1541567
Disease: Adult Oligodendroglial Tumor
Adult Oligodendroglial Tumor
disease Neoplastic Process 14 2 0.010 None 1.000 1 2017 2017
Metastatic Adrenal Gland Pheochromocytoma
disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE
disease Disease or Syndrome 33 59 0.010 None 1.000 1 2019 2019
Childhood Pleomorphic Xanthoastrocytoma
disease Neoplastic Process 42 7 0.010 None 1.000 1 1 2016 2016
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
Childhood Pilomyxoid Astrocytoma
disease Neoplastic Process 10 2 0.010 None 1.000 1 2018 2018
Childhood Anaplastic Oligoastrocytoma
disease Neoplastic Process 7 4 0.010 None 1.000 1 2016 2016
CUI: C4551492
Disease: Micropenis
Micropenis
disease Congenital Abnormality 32 21 0.010 None 1.000 1 2009 2009
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2013 2013
CUI: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
phenotype Finding 27 4 0.100 None 0