Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cerebral creatine deficiency syndrome | | IAGP | RGD:38471366 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626794 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:19892372 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:10396043 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:24415674 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:14704523 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14712453 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14712862 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15108290, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14724188 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396032 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:26467025, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14741802 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14708764 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396038 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14718517 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396036 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:26319512, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14701757 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396041 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14740139 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14703480 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:14721133 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:11664835 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:23660394 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:14724941 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626791 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:25741868, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:11664817 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396026 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:25741868, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396040 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:26319512 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:10396021 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:25741868, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:12907290 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15108290 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:13211524 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:19027335 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:10050613 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:25741868 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:13813365 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13805842 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:24415674, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:11640347 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13814035 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13807036 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13820057 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:19388150 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:10396042 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:26467025, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13812292 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13816703 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13805754 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13819632 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28438604, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13816917 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13817411 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396037 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13537889 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13813054 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13211751 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:25741868 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:38487841 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626799 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626792 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:12841410 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38494181 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626788 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:24415674, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38462420 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:26319512, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626795 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13479973 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:11350362 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626796 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:23234264, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:8566756 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:11978605 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:13626789 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626798 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:24415674, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626790 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38492636 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38492576 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:26003046, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38465652 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38457186 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38460307 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15108290 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:38483256 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396034 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:16169544 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:10396039 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:11664791 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13465209 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:12837111 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26922336 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13468172 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:12883628 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26923625 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:19027335 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:26916290 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26904072 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:8560429 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15108290 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:11644125 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626800 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:9692966 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:24415674 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:13498044 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:12836050 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26895606 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15108290, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26892680 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26918742 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:8691176 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38491974 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:11664775 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26919533 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15108290, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13466731 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:11664777 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:12837941 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26884857 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:8691179 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396023 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:15156780 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26913655 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26886198 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:15160910 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:8691178 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:8691177 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26901413 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26900248 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38485691 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:11136556, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:15179236 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:15145764 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26912635 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13501318 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:8560428 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:19027335 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:26897003 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396046 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:26467025, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396019 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:25741868, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13504414 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38482596 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:19027335, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26915808 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15108290, PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13536872 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:15138396 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13497875 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396028 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:15126980 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13829470 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:15143581 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626797 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13829281 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:15651030 more ... | cerebral creatine deficiency syndrome | | IAGP | RGD:38490100 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38457895 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:38493421 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396029 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:13626793 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:26920413 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | cerebral creatine deficiency syndrome | | IAGP | RGD:10396022 | 8554872 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome | ClinVar | PMID:28492532 | epilepsy | | IAGP | RGD:39456994 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:40815153 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13626794 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:19892372 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:15108623 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:21140503, PMID:25741868 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:26886198 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13466731 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13462357 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396021 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868, PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:14740139 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396029 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396023 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13211751 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:14721133 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13626790 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396028 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28897821 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13816917 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396032 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:26467025, PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396040 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:26319512 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396046 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:26467025, PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396042 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:26467025, PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:14712453 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8691177 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396037 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:12841410 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8691176 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28906345 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28897557 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11350362 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28906981 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28906983 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28897549 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28897555 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396043 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:24415674 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:28897553 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:9692966 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:24415674 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:40905372 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8566759 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:12468279, PMID:25741868 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13626798 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:24415674, PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13527510 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664817 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13626791 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868, PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:15160910 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:14398987 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396026 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868, PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664835 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:23660394 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:12907290 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:15108290 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8560430 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:15651030, PMID:25741868 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8566756 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:11978605 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8691179 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11644125 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8691180 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13518016 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:11136556 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11665999 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664777 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8659630 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11666387 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8560431 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:17101918 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10056682 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8566758 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10396034 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:16169544 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11665615 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664814 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664791 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664793 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664837 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8692231 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8566757 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8560429 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:15108290 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11665953 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:13504414 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8560427 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:8651275, PMID:9386672 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8560428 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:19027335 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:26888648 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:15108290, PMID:32214227 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:10050613 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:25741868 more ... | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664775 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:11664819 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | | guanidinoacetate methyltransferase deficiency | | IAGP | RGD:8691178 | 8554872 | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar | PMID:28492532 | intellectual disability | | IAGP | RGD:38596594 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | IAGP | RGD:9692966 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:24415674 more ... | Leigh disease | | IAGP | RGD:11665953 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | RGD:8566759 | 8554872 | ClinVar Annotator: match by term: Leigh's disease | ClinVar | PMID:12468279, PMID:25741868 | Leigh disease | | IAGP | RGD:11665999 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | RGD:8659630 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 | Leigh disease | | IAGP | RGD:11666387 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | RGD:11665615 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | RGD:8692231 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | mitochondrial complex I deficiency | | IAGP | RGD:11665953 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | | mitochondrial complex I deficiency | | IAGP | RGD:8566759 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | PMID:12468279, PMID:25741868 | mitochondrial complex I deficiency | | IAGP | RGD:11665999 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | | mitochondrial complex I deficiency | | IAGP | RGD:8659630 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | PMID:25741868 | mitochondrial complex I deficiency | | IAGP | RGD:11666387 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | | mitochondrial complex I deficiency | | IAGP | RGD:11665615 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | | mitochondrial complex I deficiency | | IAGP | RGD:8692231 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | | nuclear type mitochondrial complex I deficiency 1 | | IAGP | RGD:8692231 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 | ClinVar | | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | RGD:8566759 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:12468279, PMID:25741868 | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | RGD:8692231 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | RGD:11666387 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | RGD:11665615 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | RGD:11665999 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | RGD:11665953 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | RGD:8659630 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:25741868 | visual epilepsy | | IAGP | RGD:39456994 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | |
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Imported Disease Annotations - CTD
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References
References - curated
| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | KEGG |
| 3. | Komoto J, etal., Biochemistry 2004 Nov 16;43(45):14385-94. |
| 4. | OMIM Disease Annotation Pipeline |
| 5. | Pipeline to import KEGG annotations from KEGG into RGD |
| 6. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 7. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | RGD automated import pipeline for gene-chemical interactions |
| 9. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 10. | Stockler S, etal., Am J Hum Genet. 1996 May;58(5):914-22. |
| 11. | Zhao CR, etal., J Surg Res 2002 Jun 1;105(1):10-6. |
Additional References at PubMed
| PMID:8547310 | PMID:9305847 | PMID:9325156 | PMID:9570966 | PMID:10531498 | PMID:10893433 | PMID:12477932 | PMID:15057824 | PMID:15489334 | PMID:16899382 | PMID:17171576 | PMID:17336114 |
| PMID:19027335 | PMID:19161160 | PMID:19288536 | PMID:19343046 | PMID:20301334 | PMID:20301745 | PMID:21044950 | PMID:21140503 | PMID:21190923 | PMID:21873635 | PMID:21988832 | PMID:23031365 |
| PMID:23376485 | PMID:24415674 | PMID:26003046 | PMID:26186194 | PMID:26319512 | PMID:26542286 | PMID:28055022 | PMID:28514442 | PMID:28718761 | PMID:29449460 | PMID:31559727 | PMID:32296183 |
| PMID:33001583 |
Genomics
