eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| infantile neuroaxonal dystrophy | ||||
| Disease ID | 536 |
|---|---|
| Disease | infantile neuroaxonal dystrophy |
| 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908680 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6;BAIAP2L2 | 22 | 38112212 | A | C |
| rs121908682 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6 | 22 | 38132979 | A | T |
| rs200075782 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6 | 22 | 38169318 | G | A |
| rs587784327 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6 | 22 | 38129523 | C | T |
| rs587784329 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6 | 22 | 38126447 | G | - |
| rs587784344 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6 | 22 | 38113617 | ACA | - |
| rs587784353 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6;BAIAP2L2 | 22 | 38112211 | CA | - |
| rs794729212 | NA | 8398 | PLA2G6 | umls:C0270724 | CLINVAR | NA | 0.448143256 | NA | PLA2G6 | 22 | 38115619 | 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0000496 | Abnormality of eye movement | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| 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:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000505 | Visual impairment | 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:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000648 | Optic atrophy | 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:0000639 | Nystagmus | 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 |
| Disease ID | 536 |
|---|---|
| Disease | infantile neuroaxonal dystrophy |
| Case | (Waiting for update.) |