SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
0.100 Biomarker disease HPO
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
0.100 Biomarker disease HPO
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva
0.100 Biomarker disease HPO
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
0.100 Biomarker phenotype HPO
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx
0.100 Biomarker disease HPO
CUI: C4021532
Disease: Abnormality of the stapes
Abnormality of the stapes
0.100 Biomarker disease HPO
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech
0.100 Biomarker phenotype HPO
CUI: C0702166
Disease: Acne
Acne
0.010 Biomarker disease BEFREE These results initially clarified that therapeutic activities of SA in acne vulgaris treatment could be associated with the regulation of SREBP-1 pathway and NF-κB pathway in human SEB-1 sebocytes. 30972839 2019
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 Biomarker disease BEFREE These results initially clarified that therapeutic activities of SA in acne vulgaris treatment could be associated with the regulation of SREBP-1 pathway and NF-κB pathway in human SEB-1 sebocytes. 30972839 2019
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
0.100 Biomarker disease HPO
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia
0.010 GeneticVariation disease BEFREE In AML, patients with SETBP1 mutations showed higher hemoglobin (P = 0.004) and were more frequently recurrent in AML-M4 subtype (P = 0.034). 29549983 2018
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia
0.010 Biomarker disease BEFREE SETBP1 has previously not been implicated in leukaemias; however, it encodes a protein that specifically interacts with SET, fused to NUP214 in a case of acute undifferentiated leukaemia. 17233820 2007
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.020 GeneticVariation disease BEFREE SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. 29549983 2018
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.020 GeneticVariation disease BEFREE Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression. 24127063 2014
CUI: C0344505
Disease: Alacrima
Alacrima
0.100 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia
0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker disease BEFREE BIN1, CDH13, SETBP1, and SPATA21 genes could be associated with the susceptibility of AIS. 25811265 2015
CUI: C0149955
Disease: Annular pancreas
Annular pancreas
0.100 Biomarker disease HPO
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.100 Biomarker phenotype HPO
Aplasia/Hypoplasia of the pubic bone
0.100 Biomarker phenotype HPO
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I
0.100 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 CausalMutation disease CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020