eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fumarase deficiency | ||||
| Disease ID | 1878 |
|---|---|
| Disease | fumarase deficiency |
| Definition | Fumarase deficiency (or fumaric aciduria), also known as Polygamist Down's,[1] is an autosomal recessive metabolic disorder characterized by a deficiency of the enzyme fumarate hydratase, which is indicated by a buildup of fumaric acid in the urine. - Wikipedia Reference: https://en.wikipedia.org/wiki/fumarase deficiency |
| Synonym | deficiency of fumarase deficiency of fumarate hydratase deficiency of fumarate hydratase (disorder) fmrd fumarase deficiency (disorder) fumarate hydratase deficiency |
| Orphanet | |
| OMIM | |
| UMLS | C0342770 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0006112 | metabolic encephalopathy | 1 C0029927 | ovarian cyst | 1 C0010633 | cystadenoma | 1 C0005411 | biliary atresia | 1 C0014544 | epilepsy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1878 |
|---|---|
| Disease | fumarase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1878 |
|---|---|
| Disease | fumarase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913119 | NA | 2271 | FH | umls:C0342770 | CLINVAR | NA | 0.360814326 | NA | FH | 1 | 241504066 | C | G |
| rs121913123 | NA | 2271 | FH | umls:C0342770 | CLINVAR | NA | 0.360814326 | NA | FH | 1 | 241508643 | C | T,A |
| rs199822819 | NA | 2271 | FH | umls:C0342770 | CLINVAR | NA | 0.360814326 | NA | FH | 1 | 241512001 | G | C |
| rs200796606 | NA | 2271 | FH | umls:C0342770 | CLINVAR | NA | 0.360814326 | NA | FH | 1 | 241502552 | T | G |
| rs367543046 | NA | 2271 | FH | umls:C0342770 | CLINVAR | NA | 0.360814326 | NA | FH | 1 | 241497927 | - | TTT |
| rs387906545 | NA | 2271 | FH | umls:C0342770 | CLINVAR | NA | 0.360814326 | NA | FH | 1 | 241506114 | 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 | 1878 |
|---|---|
| Disease | fumarase deficiency |
| Case | (Waiting for update.) |