eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pelger-huet anomaly | ||||
| Disease ID | 1717 |
|---|---|
| Disease | pelger-huet anomaly |
| Definition | Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures. |
| Synonym | anomaly huet pelger anomaly, pelger-huet anomaly, pelger-huet nuclear anomaly, pelger-huët anomaly, pelger-huët nuclear nuclear anomaly, pelger-huet nuclear anomaly, pelger-huët ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities ovoid neutrophil nuclei, developmental delay, epilepsy, and skeletal abnormalities pelger - huet anomaly pelger huet anomaly pelger huet nuclear anomaly pelger huët anomaly pelger huët nuclear anomaly pelger-huet anomaly [disease/finding] pelger-huet nuclear anomaly pelger-huët anomaly pelger-huët anomaly (disorder) pelger-huët nuclear anomaly pha |
| OMIM | |
| DOID | |
| UMLS | C0030779 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:25) 171023 | ASXL1 | 1.787 | DISEASES 811 | CALR | 1.215 | DISEASES 1717 | DHCR7 | 1.943 | DISEASES 23405 | DICER1 | 1.514 | DISEASES 1859 | DYRK1A | 1.998 | DISEASES 2010 | EMD | 2.785 | DISEASES 8833 | GMPS | 2.655 | DISEASES 2932 | GSK3B | 2.639 | DISEASES 8359 | HIST1H4A | 1.783 | DISEASES 8366 | HIST1H4B | 1.783 | DISEASES 8364 | HIST1H4C | 1.783 | DISEASES 8360 | HIST1H4D | 1.782 | DISEASES 8367 | HIST1H4E | 1.783 | DISEASES 8361 | HIST1H4F | 1.783 | DISEASES 8294 | HIST1H4I | 1.783 | DISEASES 8363 | HIST1H4J | 1.783 | DISEASES 8362 | HIST1H4K | 1.783 | DISEASES 8368 | HIST1H4L | 1.783 | DISEASES 8370 | HIST2H4A | 1.783 | DISEASES 554313 | HIST2H4B | 1.783 | DISEASES 121504 | HIST4H4 | 1.783 | DISEASES 9920 | KBTBD11 | 2.748 | DISEASES 4000 | LMNA | 3.25 | DISEASES 84823 | LMNB2 | 4.011 | DISEASES 54790 | TET2 | 1.732 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1717 |
|---|---|
| Disease | pelger-huet anomaly |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1717 |
|---|---|
| Disease | pelger-huet anomaly |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852605 | NA | 3930 | LBR | umls:C0030779 | CLINVAR | NA | 0.445167327 | NA | LBR | 1 | 225422087 | G | A |
| rs137852606 | NA | 3930 | LBR | umls:C0030779 | CLINVAR | NA | 0.445167327 | NA | LBR | 1 | 225403445 | G | C |
| rs387906416 | NA | 3930 | LBR | umls:C0030779 | CLINVAR | NA | 0.445167327 | NA | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1717 |
|---|---|
| Disease | pelger-huet anomaly |
| Case | (Waiting for update.) |