PedAM

Pediatric Disease Annotations & Medicines


	cerebral creatine deficiency syndrome 2

Disease ID	1609
Disease	cerebral creatine deficiency syndrome 2
Synonym	ccds2 creatine deficiency syndrome due to gamt deficiency deficiency of guanidinoacetate methyltransferase deficiency of guanidinoacetate methyltransferase (disorder) gamt deficiency guanidinoacetate methyltransferase deficiency
Orphanet	ORPHANET:382
OMIM	OMIM:612736
DOID	DOID:0050799
UMLS	C0574080
SNOMED-CT	SNOMEDCT_US_2016_09_01:124239003
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) GAMT \| 2593 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:9) 6535 \| SLC6A8 \| DISEASES 1404 \| HAPLN1 \| DISEASES 1431 \| CS \| DISEASES 9188 \| DDX21 \| DISEASES 6533 \| SLC6A6 \| DISEASES 383 \| ARG1 \| DISEASES 4942 \| OAT \| DISEASES 2628 \| GATM \| DISEASES 2593 \| GAMT \| DISEASES
Locus	(Waiting for update.)

Disease ID	1609
Disease	cerebral creatine deficiency syndrome 2
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:10) HP:0000750 \| Late-onset speech development HP:0001251 \| Ataxia HP:0001249 \| Mental retardation HP:0001250 \| Seizures HP:0001263 \| Developmental retardation HP:0001276 \| Hypertonia HP:0007153 \| Progressive extrapyramidal movement disorder HP:0008947 \| Hypotonia early HP:0001336 \| Myoclonic jerks HP:0001347 \| Hyperreflexia
Text Mined Phenotype	(Waiting for update.)

Disease ID	1609
Disease	cerebral creatine deficiency syndrome 2
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894694	NA	2593	GAMT	umls:C0574080	CLINVAR	NA	0.560271442	NA	GAMT	19	1401329	T	G
rs121909272	NA	2593	GAMT	umls:C0574080	CLINVAR	NA	0.560271442	NA	GAMT	19	1398980	C	T
rs80338734	NA	2593	GAMT	umls:C0574080	CLINVAR	NA	0.560271442	NA	GAMT	19	1401418	C	G
rs80338735	NA	2593	GAMT	umls:C0574080	CLINVAR	NA	0.560271442	NA	GAMT	19	1399793	C	T
rs80338736	NA	2593	GAMT	umls:C0574080	CLINVAR	NA	0.560271442	NA	GAMT	19	1399810	-	GGCCCAGTCCCGG

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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