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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cerebral creatine deficiency syndrome
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Accession:DOID:0050798 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)
Synonyms:xref: MIM:PS300352

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cerebral creatine deficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,818,002...6,838,177
Ensembl chrNW_004955495:6,815,562...6,836,772 		JBrowse link
G Adamtsl5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955764:4,813...12,653
Ensembl chrNW_004955764:5,177...12,653 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,466,434...6,489,612
Ensembl chrNW_004955495:6,467,357...6,489,633 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,800,988...6,815,941
Ensembl chrNW_004955495:6,797,302...6,815,651 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,884,077...6,912,625
Ensembl chrNW_004955495:6,884,598...6,908,574 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,664,394...6,666,693
Ensembl chrNW_004955495:6,664,394...6,666,693 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,671,719...6,678,338
Ensembl chrNW_004955495:6,671,726...6,677,205 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,955,612...6,961,317 JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,634,389...6,640,800
Ensembl chrNW_004955495:6,634,394...6,640,800 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,839,436...6,848,208
Ensembl chrNW_004955495:6,839,436...6,848,207 		JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,461,082...6,464,720
Ensembl chrNW_004955495:6,461,082...6,464,720 		JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,499,553...6,516,227
Ensembl chrNW_004955495:6,497,890...6,524,462 		JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,614,828...6,627,287
Ensembl chrNW_004955495:6,614,791...6,627,287 		JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,631,767...6,634,282
Ensembl chrNW_004955495:6,631,767...6,634,282 		JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,099,616...7,102,749
Ensembl chrNW_004955495:7,100,309...7,102,694 		JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,077,424...7,082,768
Ensembl chrNW_004955495:7,078,427...7,082,717 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,767,969...6,772,256
Ensembl chrNW_004955495:6,767,975...6,772,178 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,859,909...6,866,297
Ensembl chrNW_004955495:6,859,909...6,866,306 		JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,124,060...7,143,730
Ensembl chrNW_004955495:7,124,640...7,194,223 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,918,632...6,921,891 JBrowse link
G LOC102018844 neutrophil elastase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106 		JBrowse link
G LOC102028311 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,368,827...6,372,938
Ensembl chrNW_004955495:6,368,827...6,372,938 		JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,385,449...6,388,911
Ensembl chrNW_004955495:6,336,367...6,389,056 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,939,084...6,955,885
Ensembl chrNW_004955495:6,934,078...6,959,190 		JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,394,784...6,401,963 JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,651,331...6,661,846 JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,034,664...7,044,886
Ensembl chrNW_004955495:7,032,876...7,038,916 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:11978605 PMID:12468279 PMID:15108290 PMID:20301745 PMID:25741868 More... NCBI chrNW_004955495:6,540,360...6,548,072
Ensembl chrNW_004955495:6,540,450...6,547,975 		JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,044,942...7,060,022
Ensembl chrNW_004955495:7,046,261...7,055,548 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,424,426...6,460,252
Ensembl chrNW_004955495:6,453,991...6,459,744 		JBrowse link
G Plk5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,415,172...6,424,445 JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,980,213...6,990,331
Ensembl chrNW_004955495:6,980,549...6,994,046 		JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,779,557...6,788,241 JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,111,271...7,124,005
Ensembl chrNW_004955495:7,111,260...7,124,291 		JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,067,844...7,077,048 JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,990,565...7,002,492
Ensembl chrNW_004955495:6,987,182...7,002,492 		JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,552,305...6,574,191
Ensembl chrNW_004955495:6,552,584...6,573,016 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,926,619...6,936,128
Ensembl chrNW_004955495:6,919,236...6,936,128 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955764:17,640...22,996
Ensembl chrNW_004955764:3,793...23,152 		JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:7,083,952...7,098,442
Ensembl chrNW_004955495:7,095,336...7,102,757 		JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,492,968...6,495,435
Ensembl chrNW_004955495:6,492,968...6,495,435 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,709,190...6,770,816
Ensembl chrNW_004955495:6,729,205...6,772,180 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,856,609...6,859,948
Ensembl chrNW_004955495:6,852,278...6,859,351 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chrNW_004955495:6,869,543...6,877,058
Ensembl chrNW_004955495:6,868,492...6,877,058 		JBrowse link
AGAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,031,094...8,049,477 JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,023,847...8,027,043
Ensembl chrNW_004955409:8,024,171...8,026,496 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,228,754...8,256,575
Ensembl chrNW_004955409:8,229,199...8,255,003 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,256,707...8,266,891
Ensembl chrNW_004955409:8,256,707...8,266,891 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,266,873...8,270,486
Ensembl chrNW_004955409:8,266,873...8,270,486 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955416:11,169,711...11,180,557
Ensembl chrNW_004955416:11,170,829...11,180,247 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,219,295...8,227,877
Ensembl chrNW_004955409:8,201,663...8,227,921 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,145,723...8,175,256
Ensembl chrNW_004955409:8,144,304...8,175,360 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:7,963,454...7,991,600
Ensembl chrNW_004955409:7,963,454...7,995,027 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,305,819...8,333,733
Ensembl chrNW_004955409:8,303,602...8,333,869 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,352,685...8,371,576
Ensembl chrNW_004955409:8,352,685...8,371,529 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004955409:8,376,449...8,394,651
Ensembl chrNW_004955409:8,376,370...8,394,540 		JBrowse link
cerebral creatine deficiency syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency | ClinVar Annotator: match by term: SLC6A8-related condition | ClinVar Annotator: match by term: X-linked creatine deficiency syndrome OMIM
ClinVar		 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11379875 More... NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency ClinVar PMID:26467025 NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Creatine deficiency, X-linked ClinVar PMID:25741868 NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967 		JBrowse link
G Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209 		JBrowse link
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT DEFICIENCY | ClinVar Annotator: match by term: GAMT-related condition OMIM
ClinVar		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: GAMT DEFICIENCY ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chrNW_004955495:6,540,360...6,548,072
Ensembl chrNW_004955495:6,540,450...6,547,975 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    syndrome 9849
      cerebral creatine deficiency syndrome 123
        AGAT deficiency 17
        cerebral creatine deficiency syndrome 1 59
        guanidinoacetate methyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 14341
    Developmental Disease 12613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          inherited metabolic disorder 5536
            amino acid metabolic disorder 1484
              cerebral creatine deficiency syndrome 123
                AGAT deficiency 17
                cerebral creatine deficiency syndrome 1 59
                guanidinoacetate methyltransferase deficiency 2
paths to the root