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: 5283
MIM: 600154
HGNC: 8964
Ensembl: ENSG00000100564
Variants:
dbSNP: 5283
ClinVar: 5283
TCGA: ENSG00000100564
COSMIC: PIGH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33156547 | 2021 | PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. | 5 |
| 34294787 | 2021 | An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1. | 2 |
| 33156547 | 2021 | PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. | 5 |
| 34294787 | 2021 | An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1. | 2 |
| 30370942 | 2019 | Loss of the GPI-anchor in B-lymphoblastic leukemia by epigenetic downregulation of PIGH expression. | 3 |
| 30370942 | 2019 | Loss of the GPI-anchor in B-lymphoblastic leukemia by epigenetic downregulation of PIGH expression. | 3 |
| 29573052 | 2018 | A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. | 12 |
| 29603516 | 2018 | A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. | 4 |
| 29573052 | 2018 | A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. | 12 |
| 29603516 | 2018 | A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. | 4 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
Citation
Dessen P
PIGH (phosphatidylinositol glycan anchor biosynthesis class H)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46949/pigh
