eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ichthyosis | ||||
| Disease ID | 523 |
|---|---|
| Disease | ichthyosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2720163 | steroid sulphatase deficiency C0442874 | neuropathy C0346023 | syringocystadenoma C0339789 | congenital deafness C0268250 | infantile gaucher disease C0155196 | cicatricial ectropion C0086873 | scarring alopecia C0035579 | rickets C0033860 | psoriasis C0033377 | ptosis C0026010 | microphthalmos C0020503 | secondary hyperparathyroidism C0019829 | hodgkin's disease C0010036 | corneal dystrophy C0008313 | sclerosing cholangitis C0007114 | skin cancer |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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 |
| rs122468178 | 22105905 | 51360 | MBTPS2 | umls:C0020757 | BeFree | Since all patients with BRESEK/BRESHECK syndrome are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/BRESHECK syndrome such as intellectual disability, vertebral and renal anomalies, and Hirschsprung disease, we analyzed the causal gene of ichthyosis follicularis with atrichia and photophobia syndrome, MBTPS2, in the present patient and identified an p.Arg429His mutation. | 0.001628651 | 2012 | MBTPS2 | X | 21880921 | G | A |
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 | 523 |
|---|---|
| Disease | ichthyosis |
| Case | (Waiting for update.) |