Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23187
MIM: 612834
HGNC: 23697
Ensembl: ENSG00000019144
Variants:
dbSNP: 23187
ClinVar: 23187
TCGA: ENSG00000019144
COSMIC: PHLDB1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36543534 | 2023 | Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. | 0 |
| 36543534 | 2023 | Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. | 0 |
| 35188604 | 2022 | Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus. | 0 |
| 35188604 | 2022 | Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus. | 0 |
| 31721021 | 2020 | Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients. | 6 |
| 31721021 | 2020 | Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients. | 6 |
| 30868356 | 2019 | A PHLDB1 variant associated with the nonfunctional pituitary adenoma. | 2 |
| 30928649 | 2019 | 3'UTR variants of TNS3, PHLDB1, NTN4, and GNG2 genes are associated with IgA nephropathy risk in Chinese Han population. | 8 |
| 31215377 | 2019 | Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk. | 4 |
| 30868356 | 2019 | A PHLDB1 variant associated with the nonfunctional pituitary adenoma. | 2 |
| 30928649 | 2019 | 3'UTR variants of TNS3, PHLDB1, NTN4, and GNG2 genes are associated with IgA nephropathy risk in Chinese Han population. | 8 |
| 31215377 | 2019 | Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk. | 4 |
| 29348417 | 2018 | Identification of a membrane-less compartment regulating invadosome function and motility. | 13 |
| 29348417 | 2018 | Identification of a membrane-less compartment regulating invadosome function and motility. | 13 |
| 28886307 | 2017 | Pleckstrin homology-like domain family B member 1 rs498872 polymorphism and glioma risk in Chinese Han population. | 0 |
Citation
Dessen P
PHLDB1 (pleckstrin homology like domain family B member 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/54007/phldb1-(pleckstrin-homology-like-domain-family-b-member-1)
