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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:primary_id: RDO:9004404
 xref: OMIM:PS300352
For additional species annotation, visit the Alliance of Genome Resources.

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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 chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,541,032...12,741,314
Ensembl chr 7:12,541,061...12,741,296 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,573,604...12,602,407
Ensembl chr 7:12,574,198...12,601,674 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,433,422...12,441,048
Ensembl chr 7:12,433,933...12,441,048 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943 		JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,400,066...12,405,054
Ensembl chr 7:12,401,207...12,405,022 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,782,459...12,787,977
Ensembl chr 7:12,782,491...12,787,750 		JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,382,636...12,393,266
Ensembl chr 7:12,382,636...12,393,266 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232 		JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,398,200...12,399,910
Ensembl chr 7:12,398,200...12,399,910 		JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,829,785...12,831,675
Ensembl chr 7:12,829,785...12,831,675 		JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,806,031...12,810,556
Ensembl chr 7:12,804,919...12,810,570 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:2476685 PMID:8651275 PMID:11136556 PMID:11978605 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16855203 PMID:17171576 PMID:17336114 PMID:19027335 PMID:19388150 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:28438604 PMID:28492532 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154 		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 chr 7:12,764,993...12,771,310
Ensembl chr 7:12,764,993...12,771,310 		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 chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,619,739...12,632,241
Ensembl chr 7:12,542,713...12,632,298 		JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,414,303...12,426,712
Ensembl chr 7:12,414,733...12,424,367 		JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,691,834...12,707,927
Ensembl chr 7:12,697,743...12,707,922 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,708,024...12,721,055
Ensembl chr 7:12,708,015...12,793,711 		JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,652,555...12,663,825
Ensembl chr 7:12,652,415...12,663,819 		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 chr 7:12,532,785...12,536,797
Ensembl chr 7:12,532,895...12,536,791 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,840,907...12,851,153
Ensembl chr 7:12,840,938...12,851,153 		JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,798,310...12,804,668
Ensembl chr 7:12,798,868...12,804,283 		JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,643,712...12,646,951
Ensembl chr 7:12,643,516...12,646,960 		JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,663,965...12,673,723
Ensembl chr 7:12,663,965...12,673,718 		JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,331,288...12,348,263
Ensembl chr 7:12,331,416...12,346,475 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,611,476...12,618,586
Ensembl chr 7:12,611,468...12,618,586 		JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,820,796...12,828,325
Ensembl chr 7:12,820,840...12,828,334 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,471,805...12,515,700
Ensembl chr 7:12,471,824...12,518,654 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,771,239...12,777,901
Ensembl chr 7:12,771,227...12,779,862 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,561,318...12,569,120
Ensembl chr 7:12,561,324...12,569,143 		JBrowse link
AGAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,251,794...114,286,827
Ensembl chr 3:114,253,637...114,286,802 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,241,057...114,251,720
Ensembl chr 3:114,241,057...114,251,647 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar Annotator: match by OMIM:612718
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:10762163 PMID:11555793 PMID:12468279 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:27233232 PMID:28492532 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,288,021...114,307,334
Ensembl chr 3:114,287,718...114,307,250 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,355,003...114,647,382
Ensembl chr 3:114,355,798...114,647,382 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366 		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 chr 3:114,129,387...114,147,943
Ensembl chr 3:114,129,589...114,147,926 		JBrowse link
creatine transporter deficiency 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:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine transporter deficiency
ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
ClinVar Annotator: match by OMIM:300352
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Creatine deficiency, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:12544242 PMID:15154114 PMID:16086185 PMID:16738945 PMID:17101918 PMID:17465020 PMID:18047645 PMID:18414213 PMID:19188083 PMID:20717164 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22659343 PMID:23408511 PMID:23660394 PMID:25326635 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:28492532 PMID:29429461 PMID:31222513 PMID:32860008 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650 		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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612736		 OMIM
ClinVar
CTD		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:19027335 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:28492532 PMID:32214227 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:12468279 PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      cerebral creatine deficiency syndrome 54
        AGAT deficiency 9
        creatine transporter deficiency 9
        guanidinoacetate methyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            amino acid metabolic disorder 433
              cerebral creatine deficiency syndrome 54
                AGAT deficiency 9
                creatine transporter deficiency 9
                guanidinoacetate methyltransferase deficiency 2
paths to the root