Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:17396119 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24052634 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033287 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:26467025 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:28492532, PMID:29098738 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:17216251 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:14582039 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:25741868, PMID:28492532 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266, PMID:28968992 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:19675380 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:19675380 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:23349334 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:12631110 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:14582039 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:1721625 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:25514610 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:25741868, PMID:26467025 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:15618242 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:17396119 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:12028435 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:26467025, PMID:28492532 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:28492532 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266, PMID:28492532 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:11961012 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:12028435 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:11961012 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266, PMID:26467025 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:11961012 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24033266 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:24033266, PMID:25741868 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:11134255 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:19129241 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:22887978 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:12028435 more ... | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:25741868 | Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome | ClinVar | PMID:11961012 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:25741868, PMID:33532864 | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:17576681 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:11961012 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal dominant | ClinVar | PMID:24033266 | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:12748344 | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal dominant | ClinVar | PMID:21897443 | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:19129241 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:25596306 | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal dominant | ClinVar | | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:19129241 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:15618242 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:24052634 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:11961012 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:28492532 | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:11961012 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:21196518 more ... | autosomal dominant Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar | PMID:25741868 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:12028435 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:12325029 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome type 2 | ClinVar | PMID:25741868, PMID:28492532 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:26467025 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:19675380 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:14582039 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24033266, PMID:28968992 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24033266 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:26467025 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:16338941, PMID:25741868 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:11961012 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25741868 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:12028435 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:19129241 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24033287 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:19675380 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:21897443 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:12748344 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:28117080 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:16338941 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:28968992 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:23349334, PMID:28968992 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:16338941, PMID:24052634 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:28542346 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25596306 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24633401, PMID:27281700 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25755845 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25514610, PMID:28632965 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24052634 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:26467025 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:17216251 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:15954103, PMID:25525159 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:26809805 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24633401 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:12631110 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:11961012 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24854265, PMID:26467025 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:24033266, PMID:26467025 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:16199547 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:22887978 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25307543 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25307543 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:16199547 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:15618242 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:11961012 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:7987396, PMID:9195222 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:9792860 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome type 2 | ClinVar | PMID:19129241 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:12028435 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:19129241 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25741868, PMID:28632965 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:28492532 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:11961012 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25741868, PMID:26467025 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:17396119 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25741868, PMID:33532864 | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25229338 more ... | autosomal recessive Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Alport syndrome, autosomal recessive | ClinVar | PMID:25741868 more ... | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:25741868, PMID:28632965 | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:16338941, PMID:25741868 | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:25741868, PMID:28492532 | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:12325029 more ... | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:14582039 more ... | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:25741868 | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:11961012 more ... | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by synonym: THIN MEMBRANE NEPHROPATHY | ClinVar | PMID:11961012 | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | PMID:25741868, PMID:33532864 | benign familial hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Benign familial hematuria | ClinVar | | chronic kidney disease | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Chronic kidney disease | ClinVar | PMID:11961012 more ... | chronic kidney disease | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Chronic renal failure | ClinVar | PMID:24033266, PMID:25741868 | chronic kidney disease | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Chronic renal failure | ClinVar | PMID:25741868 | end stage renal disease | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: End-stage renal failure | ClinVar | PMID:24033266, PMID:25741868 | end stage renal disease | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Chronic renal failure | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | glomerulonephritis | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Glomerulonephritis | ClinVar | PMID:25741868 | Hearing Loss | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:17396119 more ... | Hearing Loss | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:24033287 more ... | Hearing Loss | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:30311386 | Hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hematuria | ClinVar | PMID:24052634 more ... | Hematuria | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hematuria | ClinVar | | Hyperkalemia | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hyperkalemia | ClinVar | PMID:25741868 | Hyperkalemia | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hyperkalemia | ClinVar | PMID:24033266, PMID:25741868 | hypertension | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Hypertension | ClinVar | PMID:25741868 | hypertension | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: High blood pressure | ClinVar | PMID:24033266, PMID:25741868 | nephrotic syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Nephrotic syndrome | ClinVar | PMID:25741868 more ... | nephrotic syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Nephrotic syndrome | ClinVar | | nephrotic syndrome type 2 | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome | ClinVar | PMID:25741868 | thrombocytopenia | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 | thrombocytopenia | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:24033266, PMID:25741868 | X-linked Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: X-linked Alport syndrome | ClinVar | PMID:12028435 more ... | X-linked Alport syndrome | | ISO | RGD:1313332 | 8554872 | ClinVar Annotator: match by term: X-linked Alport syndrome | ClinVar | PMID:24033266 more ... | |
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Imported Disease Annotations - OMIA
Imported Disease Annotations - OMIM
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Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - PID (archival)
Disease Annotations
Click to see Annotation Detail View
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Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
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Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
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Cellular Component
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References
References - curated
Additional References at PubMed
| PMID:2211832 | PMID:7523402 | PMID:7962065 | PMID:9264260 | PMID:10534397 | PMID:11732842 | PMID:12477932 | PMID:17942953 | PMID:19275937 | PMID:19675380 |
Genomics
