ASXL1, ASXL transcriptional regulator 1, 171023

N. diseases: 296; N. variants: 24
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 0.110 None 1.000 8 5 2004 2016
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.150 None 1.000 5 1 2013 2018
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.040 None 1.000 4 2017 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2015 2018
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.020 None 1.000 2 2018 2019
CUI: C0231779
Disease: Heel toe gait
Heel toe gait 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2019 2019
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		phenotype Sign or Symptom 33 12 0.010 None 1.000 1 2019 2019
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: C0242006
Disease: Myelofibrosis due to another disorder
Myelofibrosis due to another disorder 		disease Disease or Syndrome 23 6 0.010 None 1.000 1 2018 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease Disease or Syndrome 49 13 0.010 None 1.000 1 2005 2005
CUI: C0279645
Disease: Childhood Acute Monoblastic Leukemia
Childhood Acute Monoblastic Leukemia 		disease Neoplastic Process 19 5 0.010 None 1.000 1 2018 2018
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0740992
Disease: anemia hemoglobin
anemia hemoglobin 		disease Disease or Syndrome 6 1 0.010 None 1.000 1 2013 2013
CUI: C1739405
Disease: CML progression
CML progression 		disease Neoplastic Process 47 3 0.010 None 1.000 1 2017 2017
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		disease Disease or Syndrome 41 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 < 0.001 1 2019 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2016 2016
CUI: C4509017
Disease: Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) 		disease Neoplastic Process 9 0.010 None 1.000 1 2019 2019
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		phenotype Finding 18 11 0.100 None 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		phenotype Sign or Symptom 14 9 0.100 None 0 1
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		phenotype Finding 31 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 2
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0