Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CAKUT | | IAGP | RGD:15178011 | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:25741868 more ... | CAKUT | | IAGP | RGD:126745888 | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:28492532 | CAKUT | | IAGP | RGD:126745891 | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:25741868 | CAKUT | | IAGP | RGD:151732594 | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:30143558 | genetic disease | | IAGP | RGD:13822081 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:156386250 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:151811267 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:25314865 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:155942849 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156209479 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156266101 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155979827 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155985972 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156255806 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156111796 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155981210 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:21075394 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:15146250 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:12906679 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:156159699 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:11578921 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:155904049 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156191633 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155265680 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155913660 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:11619241 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156291030 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:38597652 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | genetic disease | | IAGP | RGD:156062254 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156206027 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156220146 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156081571 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156126405 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:329363527 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:329397400 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:329396089 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:329361000 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156228030 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:11640211 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | microcephaly | | IAGP | RGD:38597652 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | nephronophthisis 14 | | IAGP | RGD:156447932 | 8554872 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar | PMID:28492532 | nephronophthisis 14 | | IAGP | RGD:156447931 | 8554872 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:12791326 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:27657687 | Townes-Brocks syndrome | | IAGP | RGD:156375507 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156350308 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156214964 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150465661 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156313953 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:156236008 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156002769 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:152042327 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:25314865 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13617397 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:16971658 more ... | Townes-Brocks syndrome | | IAGP | RGD:156134222 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:155974243 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156016506 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:26489027, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:38473131 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:156260218 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156021925 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156171815 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155985982 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155940107 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156037332 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11644056 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156250250 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156331321 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156160815 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155939058 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156308193 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:14696593 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:24429398 more ... | Townes-Brocks syndrome | | IAGP | RGD:155908072 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:156262597 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156007872 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156239276 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156405507 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13509201 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:156250332 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156219408 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156281773 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155980732 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156195984 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:38483012 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:156127078 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155921297 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13472757 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:156391756 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:8559914 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:10928856 more ... | Townes-Brocks syndrome | | IAGP | RGD:11637555 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156357137 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156038512 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:126745888 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155912153 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:15127994 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156288301 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156376733 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156323621 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11625595 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150336949 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156370803 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156027222 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156244445 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13523305 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156119480 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156189884 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156115329 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156381909 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13617395 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:16971658 more ... | Townes-Brocks syndrome | | IAGP | RGD:150476232 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156136732 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:127241417 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:155978465 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:15154152 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13833300 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156037279 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156126405 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155953731 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:14736505 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:155932018 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156143875 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:8559908 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:10533063 more ... | Townes-Brocks syndrome | | IAGP | RGD:156367769 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11581869 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:10533063 more ... | Townes-Brocks syndrome | | IAGP | RGD:152067624 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150424767 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:26896011 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:126745891 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:14714071 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:152062137 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11637632 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:126729602 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151236079 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:150482508 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:11639098 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:8559909 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:9425907 | Townes-Brocks syndrome | | IAGP | RGD:11617258 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150554125 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:152109014 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13834613 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156437314 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156440825 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13518795 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13537123 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13617403 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156442803 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:11619863 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156257406 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156378920 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13523540 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:127237832 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:11641077 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150550010 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:152141571 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:21404692 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:30311386 | Townes-Brocks syndrome | | IAGP | RGD:10050718 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155268356 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:17221874, PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:11616891 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13515825 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:16088922 more ... | Townes-Brocks syndrome | | IAGP | RGD:14696597 | 8554872 | ClinVar Annotator: match by term: Deafness more ... | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:150442850 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:151745947 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:153345656 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:153346256 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:151725895 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:153301761 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:151886963 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:151811267 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151740890 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151798416 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151828191 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151831443 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:155913660 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11612495 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13837849 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151349224 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:153348397 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:10050717 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:25315001 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:243064116 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:156364403 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13479940 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:243051727 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:29758562 | Townes-Brocks syndrome | | IAGP | RGD:156210238 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:11614914 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156032364 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151780934 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:40815899 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:150508603 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:38477445 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:152980891 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:152977871 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:151836783 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13617399 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:16088922 more ... | Townes-Brocks syndrome | | IAGP | RGD:156249125 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:152979389 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:13475877 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:16088922 more ... | Townes-Brocks syndrome | | IAGP | RGD:150499077 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150448649 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150540802 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:152977867 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:12843777 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156406976 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151726996 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11551345 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:15109641 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:152116555 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11636725 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:21075394 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156280796 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11581492 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150446868 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:15172393 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:41407699 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:152070698 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:152063854 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:150486348 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11551593 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868 more ... | Townes-Brocks syndrome | | IAGP | RGD:11638849 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:12895518 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:16971658 more ... | Townes-Brocks syndrome | | IAGP | RGD:38463440 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:25314806 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:25315050 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:11550618 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 more ... | Townes-Brocks syndrome | | IAGP | RGD:150338403 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:14738737 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:21074847 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:11549879 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 more ... | Townes-Brocks syndrome | | IAGP | RGD:150338007 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741886 | Townes-Brocks syndrome | | IAGP | RGD:10449743 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:10819639 more ... | Townes-Brocks syndrome | | IAGP | RGD:12906679 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11581544 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11545284 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11549787 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:24429398 more ... | Townes-Brocks syndrome | | IAGP | RGD:11544595 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11578634 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:17431915 more ... | Townes-Brocks syndrome | | IAGP | RGD:11546118 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 more ... | Townes-Brocks syndrome | | IAGP | RGD:13822081 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:10449977 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:8559910 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:8133838, PMID:9425907 | Townes-Brocks syndrome | | IAGP | RGD:8559906 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:11102974, PMID:9425907 | Townes-Brocks syndrome | | IAGP | RGD:8559907 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:11102974, PMID:9425907 | Townes-Brocks syndrome | | IAGP | RGD:13617400 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:127247307 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:10766755 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:23069192, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13529220 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:15017053 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:11544214 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:156344772 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11543837 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13799145 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:127269492 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:11543502 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:127267499 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:12915476 more ... | Townes-Brocks syndrome | | IAGP | RGD:11543124 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:15146250 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11547817 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:10533063 more ... | Townes-Brocks syndrome | | IAGP | RGD:8559916 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:18000979 | Townes-Brocks syndrome | | IAGP | RGD:11547952 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:13501881 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:151811535 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11635727 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:11635274 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:11618235 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:12839016 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11615553 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:8559913 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:11484202 | Townes-Brocks syndrome | | IAGP | RGD:26919771 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11658632 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:11350713 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:25741868, PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:11648351 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:151749619 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:10766699 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:26380986 | Townes-Brocks syndrome | | IAGP | RGD:127334047 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:12906308 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:38464606 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:8559915 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:17431915 | Townes-Brocks syndrome | | IAGP | RGD:11658308 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | | Townes-Brocks syndrome | | IAGP | RGD:15122477 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:38466621 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:151870686 | 8554872 | ClinVar Annotator: match by term: Townes syndrome | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | IAGP | RGD:126909438 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 | Townes-Brocks syndrome | | IAGP | RGD:15178011 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar | PMID:25741868 more ... | Townes-Brocks-Branchiootorenal-Like Syndrome | | IAGP | RGD:8559912 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome | ClinVar | PMID:10928856 | Townes-Brocks-Branchiootorenal-Like Syndrome | | IAGP | RGD:8559914 | 8554872 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome | ClinVar | PMID:10928856 more ... | X-linked VACTERL association | | IAGP | RGD:14696597 | 8554872 | ClinVar Annotator: match by term: VACTERL-H | ClinVar | PMID:25741868 | |
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. | Botzenhart EM, etal., Hum Mutat. 2005 Sep;26(3):282. |
| 2. | SALL4 is a marker of the embryonal subtype of hepatoblastoma. | Gnemmi V, etal., Histopathology. 2013 Sep;63(3):425-8. doi: 10.1111/his.12187. Epub 2013 Jul 3. |
| 3. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 4. | SALL1 mutations in Townes-Brocks syndrome and related disorders. | Kohlhase J Hum Mutat. 2000 Dec;16(6):460-6. |
| 5. | Accumulation of malignant renal stem cells is associated with epigenetic changes in normal renal progenitor genes. | Metsuyanim S, etal., Stem Cells. 2008 Jul;26(7):1808-17. doi: 10.1634/stemcells.2007-0322. Epub 2008 May 8. |
| 6. | Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. | Nishinakamura R, etal., Development. 2001 Aug;128(16):3105-15. doi: 10.1242/dev.128.16.3105. |
| 7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 11. | Therapeutic potential of human induced pluripotent stem cells and renal progenitor cells in experimental chronic kidney disease. | Ribeiro PC, etal., Stem Cell Res Ther. 2020 Dec 9;11(1):530. doi: 10.1186/s13287-020-02060-4. |
Additional References at PubMed
| PMID:8975705 | PMID:9425907 | PMID:9973281 | PMID:10533063 | PMID:10928856 | PMID:10965108 | PMID:11484202 | PMID:11511981 | PMID:11751684 | PMID:11836251 | PMID:12065233 | PMID:12200128 |
| PMID:12395297 | PMID:12477932 | PMID:15158448 | PMID:15342556 | PMID:16221172 | PMID:16344560 | PMID:16429401 | PMID:16443351 | PMID:16545361 | PMID:16670092 | PMID:16971658 | PMID:17426652 |
| PMID:17910067 | PMID:18000979 | PMID:18024993 | PMID:18280297 | PMID:18297069 | PMID:18470945 | PMID:19005989 | PMID:19213029 | PMID:19247946 | PMID:19274049 | PMID:19440552 | PMID:19942929 |
| PMID:20301618 | PMID:20548946 | PMID:20634891 | PMID:21062744 | PMID:21300955 | PMID:21532573 | PMID:21873635 | PMID:22308078 | PMID:22504420 | PMID:23069192 | PMID:23643386 | PMID:24165912 |
| PMID:24292671 | PMID:25241763 | PMID:25609649 | PMID:26186194 | PMID:26687479 | PMID:28514442 | PMID:29395067 | PMID:29395072 | PMID:29507755 | PMID:29625565 | PMID:29844126 | PMID:30385546 |
| PMID:31040265 | PMID:31182584 | PMID:32296183 | PMID:32694731 | PMID:33098486 | PMID:33961781 | PMID:34079125 | PMID:34257535 | PMID:34709266 | PMID:34780483 | PMID:34795231 | PMID:35044719 |
| PMID:35140242 | PMID:35182466 | PMID:35271311 | PMID:36252910 | PMID:36833185 |
Genomics
Comparative Map Data
| SALL1 (Homo sapiens - human) |
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| Sall1 (Mus musculus - house mouse) |
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| Sall1 (Rattus norvegicus - Norway rat) |
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| Sall1 (Chinchilla lanigera - long-tailed chinchilla) |
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| SALL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SALL1 (Canis lupus familiaris - dog) |
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| Sall1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SALL1 (Sus scrofa - pig) |
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| SALL1 (Chlorocebus sabaeus - green monkey) |
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| Sall1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in SALL1
346 total Variants 
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