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Disease table of CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM ID: 237300
Gene-disease associations table
Gene
Associated with CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO in
Link to HGNC
Cytogenetic band
Number of associated diseases
Associated diseases
CPS1
ClinVar, OMIM, HUMSAVAR
HGNC link
2q34
2
237300
,
615371
Download the disease annotation in CSV format