SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
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: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.150 None 1.000 5 2011 2014
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.040 None 1.000 4 2017 2020
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.030 None 0.667 3 2012 2019
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		disease Neoplastic Process 24 1 0.030 None 1.000 3 2017 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.020 None 1.000 2 2014 2016
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: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.020 None 1.000 2 2014 2016
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 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: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease Disease or Syndrome 49 13 0.010 None 1.000 1 2005 2005
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 1 2016 2016
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0920715
Disease: Myocardial hypoxia
Myocardial hypoxia 		disease Disease or Syndrome 13 0.010 None 1.000 1 2015 2015
CUI: C1740827
Disease: CLL progression
CLL progression 		disease Neoplastic Process 28 2 0.010 None 1.000 1 2016 2016
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: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2016 2016
CUI: C4531138
Disease: Short telomere length
Short telomere length 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2013 2013
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		disease Neoplastic Process 24 11 0.010 None 1.000 1 2017 2017
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C1334688
Disease: Megaloblastic erythroid hyperplasia
Megaloblastic erythroid hyperplasia 		phenotype Finding 3 0.100 None 0
CUI: C1705500
Disease: Flasher - visual manifestation
Flasher - visual manifestation 		phenotype Sign or Symptom 6 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.100 None 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		phenotype Finding 68 0.100 None 0