eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nephrogenic syndrome of inappropriate antidiuresis | ||||
| Disease ID | 1903 |
|---|---|
| Disease | nephrogenic syndrome of inappropriate antidiuresis |
| Synonym | nsiad |
| Orphanet | |
| OMIM | |
| UMLS | C1845202 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) AVPR2 | Xq28 |
| Disease ID | 1903 |
|---|---|
| Disease | nephrogenic syndrome of inappropriate antidiuresis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0001250 | Seizures HP:0002902 | Hyponatremia HP:0000737 | Irritability HP:0003351 | Decreased plasma renin activity HP:0012605 | Hypernatriuria HP:0004421 | Elevated systolic blood pressure |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1903 |
|---|---|
| Disease | nephrogenic syndrome of inappropriate antidiuresis |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894756 | NA | 554 | AVPR2 | umls:C1845202 | CLINVAR | NA | 0.481085767 | NA | AVPR2 | X | 153905916 | G | A,T |
| rs104894761 | NA | 554 | AVPR2 | umls:C1845202 | CLINVAR | NA | 0.481085767 | NA | AVPR2 | X | 153905915 | C | G,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003351 | Decreased circulating renin level | MP:0011553 | increased urine deoxycorticosterone level | an increased amount of deoxycorticosterone in the urine compared to the normal state |
| HP:0004421 | Elevated systolic blood pressure | MP:0005565 | increased blood urea nitrogen level | high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003351 | Decreased circulating renin level | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0004421 | Elevated systolic blood pressure | MP:0011423 | kidney cortex atrophy | acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pres |
| HP:0012605 | Hypernatriuria | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| Disease ID | 1903 |
|---|---|
| Disease | nephrogenic syndrome of inappropriate antidiuresis |
| Case | (Waiting for update.) |