eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| crigler najjar syndrome | ||||
| Disease ID | 1342 |
|---|---|
| Disease | crigler najjar syndrome |
| Definition | A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation. |
| Synonym | bilirubin glucuronosyltransferase deficiency bilirubin udp glucuronyl transferase deficiency bilirubin udp glucuronyl transferase deficiency (disorder) crigler najar syndrome crigler najjar syndrome, type 1 crigler najjar syndrome, type i crigler najjar syndromes crigler-najar syndrome crigler-najjar disease crigler-najjar syndrome crigler-najjar syndrome (disorder) crigler-najjar syndrome [disease/finding] crigler-najjar syndrome type i crigler-najjar syndrome, nos crigler-najjar syndrome, type i crigler-najjar syndrome, type i (disorder) crigler-najjar type 1 deficiency of glucuronosyltransferase familial nonhemolytic unconjugated hyperbilirubinemia glucuronyltransferase deficiency hblrcn1 hereditary unconjugated hyperbilirubinemia hyperbilirubinemia, crigler-najjar type i udp glucuronyl transferase deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0010324 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 1244 | ABCC2 | 2.043 | DISEASES 229 | ALDOB | 1.508 | DISEASES 55748 | CNDP2 | 4.565 | DISEASES 1269 | CNR2 | 1.796 | DISEASES 1543 | CYP1A1 | 1.329 | DISEASES 1544 | CYP1A2 | 1.704 | DISEASES 8972 | MGAM | 1.049 | DISEASES 8856 | NR1I2 | 1.842 | DISEASES 9970 | NR1I3 | 1.564 | DISEASES 22978 | NT5C2 | 4.861 | DISEASES 6461 | SHB | 2.345 | DISEASES 54575 | UGT1A10 | 3.842 | DISEASES 54659 | UGT1A3 | 3.211 | DISEASES 54657 | UGT1A4 | 3.84 | DISEASES 54579 | UGT1A5 | 3.053 | DISEASES 54577 | UGT1A7 | 2.035 | DISEASES 54576 | UGT1A8 | 3.274 | DISEASES 54600 | UGT1A9 | 1.935 | DISEASES 7366 | UGT2B15 | 2.253 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1342 |
|---|---|
| Disease | crigler najjar syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1342 |
|---|---|
| Disease | crigler najjar syndrome |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs72551351 | 12378576 | 54579 | UGT1A5 | umls:C0010324 | BeFree | As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. | 0.001900093 | 2002 | UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3 | 2 | 233767922 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1342 |
|---|---|
| Disease | crigler najjar syndrome |
| Case | (Waiting for update.) |