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GENE - TERM ANNOTATION REPORT
2 Annotations Found.
An association has been curated linking
Sgsh
and
mucopolysaccharidosis III
in Chinchilla lanigera.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred from sequence orthology with
SGSH (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
17
RGD objects have been annotated to
mucopolysaccharidosis III
(DOID:12801)
2
papers in RGD have been used to annotate
Sgsh
Curation Notes: ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
Original References(s):
PMID:10521831
PMID:10601282
PMID:10727844
PMID:11182930
PMID:11343308
PMID:11668611
PMID:12000360
PMID:12490062
PMID:15146460
PMID:15542396
PMID:18407553
PMID:19099774
PMID:21061399
PMID:21204211
PMID:21671382
PMID:21910976
PMID:22002444
PMID:22976768
PMID:22976788
PMID:24314109
PMID:24816101
PMID:24875751
PMID:25557439
PMID:25741868
PMID:26331342
PMID:26648750
PMID:26787381
PMID:27590925
PMID:28492532
PMID:28844463
PMID:29023963
PMID:30809705
PMID:31536183
PMID:32581362
PMID:9158154
PMID:9285796
PMID:9401012
PMID:9554748
PMID:9700599
PMID:9744479
An association has been curated linking
Sgsh
and
mucopolysaccharidosis III
in Chinchilla lanigera.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred from sequence orthology with
SGSH (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
17
RGD objects have been annotated to
mucopolysaccharidosis III
(DOID:12801)
2
papers in RGD have been used to annotate
Sgsh
Curation Notes: ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
Original References(s):
PMID:10521831
PMID:10601282
PMID:10727844
PMID:11182930
PMID:11343308
PMID:11668611
PMID:12000360
PMID:12490062
PMID:12702166
PMID:15146460
PMID:15542396
PMID:18407553
PMID:19099774
PMID:21061399
PMID:21204211
PMID:21671382
PMID:21910976
PMID:22002444
PMID:22976768
PMID:22976788
PMID:24314109
PMID:24816101
PMID:24875751
PMID:25557439
PMID:25741868
PMID:26331342
PMID:26648750
PMID:26787381
PMID:27590925
PMID:28492532
PMID:28844463
PMID:29023963
PMID:30809705
PMID:31536183
PMID:32581362
PMID:9158154
PMID:9285796
PMID:9401012
PMID:9554748
PMID:9700599
PMID:9744479
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