eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acrokeratosis verruciformis | ||||
| Disease ID | 1646 |
|---|---|
| Disease | acrokeratosis verruciformis |
| Definition | A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. |
| Synonym | acrokeratosis verruciformis (disorder) acrokeratosis verruciformis of hopf acrokeratosis verruciformis of hopf (disorder) akv akv - acrokeratosis verruciformis disease, hopf diseases, hopf hopf acrokeratosis verruciformis hopf disease hopf diseases verruciformis, acrokeratosis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265971 |
| 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:1) |
| Locus | (Waiting for update.) |
| Disease ID | 1646 |
|---|---|
| Disease | acrokeratosis verruciformis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1646 |
|---|---|
| Disease | acrokeratosis verruciformis |
| 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 |
| rs121912737 | 22814319 | 488 | ATP2A2 | umls:C0265971 | BeFree | Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. | 0.360814326 | 2012 | ATP2A2 | 12 | 110340702 | C | T |
| rs121912737 | NA | 488 | ATP2A2 | umls:C0265971 | CLINVAR | NA | 0.360814326 | NA | ATP2A2 | 12 | 110340702 | C | T |
| rs387906594 | NA | 488 | ATP2A2 | umls:C0265971 | CLINVAR | NA | 0.360814326 | NA | ATP2A2 | 12 | 110340990 | C | T |
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 | 1646 |
|---|---|
| Disease | acrokeratosis verruciformis |
| Case | (Waiting for update.) |