PedAM
Pediatric Disease Annotations & Medicines
| joubert syndrome 1 | ||||
| Disease ID | 1344 |
|---|---|
| Disease | joubert syndrome 1 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1344 |
|---|---|
| Disease | joubert syndrome 1 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:23) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434350 | 23532844 | 54806 | AHI1 | umls:C0431399 | BeFree | The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. | 0.005971721 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121434350 | 23532844 | 4867 | NPHP1 | umls:C0431399 | BeFree | We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). | 0.005895776 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121434350 | 23532844 | 328 | APEX1 | umls:C0431399 | BeFree | However, we show that HAP1 has decreased binding to AHI1-V443D indicating that this altered binding could be responsible for the JBTS-like phenotype through an unknown pathway. | 0.000271442 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121434350 | 23532844 | 9001 | HAP1 | umls:C0431399 | BeFree | However, we show that HAP1 has decreased binding to AHI1-V443D indicating that this altered binding could be responsible for the JBTS-like phenotype through an unknown pathway. | 0.000271442 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121918129 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136432562 | C | T |
| rs121918198 | 17960139 | 4867 | NPHP1 | umls:C0431399 | BeFree | Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. | 0.005895776 | 2007 | RPGRIP1L | 16 | 53652844 | T | G |
| rs199469707 | NA | 65062 | TMEM237 | umls:C0431399 | CLINVAR | NA | 0.120271442 | NA | TMEM237 | 2 | 201640915 | G | A |
| rs200407856 | NA | 57545 | CC2D2A | umls:C0431399 | CLINVAR | NA | 0.121628651 | NA | CC2D2A | 4 | 15516005 | G | A |
| rs386833750 | NA | 57545 | CC2D2A | umls:C0431399 | CLINVAR | NA | 0.121628651 | NA | CC2D2A | 4 | 15563485 | C | A,G,T |
| rs386834149 | NA | 80184 | CEP290 | umls:C0431399 | CLINVAR | NA | 0.12434307 | NA | CEP290 | 12 | 88120185 | T | - |
| rs397514726 | 23532844 | 4867 | NPHP1 | umls:C0431399 | BeFree | We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). | 0.005895776 | 2013 | AHI1 | 6 | 135457593 | C | T,A |
| rs61747071 | NA | 23322 | RPGRIP1L | umls:C0431399 | CLINVAR | NA | 0.121900093 | NA | RPGRIP1L | 16 | 53686524 | C | T |
| rs746212325 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136434769 | C | A,T |
| rs746867724 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136431090 | G | A |
| rs752300607 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136430325 | C | T |
| rs754637179 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136434127 | G | A |
| rs757222534 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136431905 | C | T |
| rs775518991 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136430319 | A | - |
| rs775883520 | NA | 91147 | TMEM67 | umls:C0431399 | CLINVAR | NA | 0.121628651 | NA | TMEM67 | 8 | 93780603 | A | G |
| rs778149316 | NA | 23322 | RPGRIP1L | umls:C0431399 | CLINVAR | NA | 0.121900093 | NA | RPGRIP1L | 16 | 53652977 | - | T |
| rs780882740 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136434050 | C | T |
| rs786204135 | NA | 23322 | RPGRIP1L | umls:C0431399 | CLINVAR | NA | 0.121900093 | NA | RPGRIP1L | 16 | 53696150 | C | T |
| rs786204189 | NA | 80776 | B9D2 | umls:C0431399 | CLINVAR | NA | 0.12 | NA | B9D2 | 19 | 41357948 | CCATGTCC | - |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |