Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE Preliminary data indicate that recombinant C-type natriuretic peptide (CNP) is safe in children and increases growth velocity upon 42 months of treatment in achondroplasia. 31789832

2020

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE SIGNIFICANCE STATEMENT: The hormone C-type natriuretic peptide (CNP) is in clinical development for the treatment of comorbidities associated with achondroplasia, the most common form of human dwarfism. 31235532

2019

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. 31269546

2019

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. 28808977

2017

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE These results clearly demonstrate the therapeutic potential of CNP for treatment of midfacial hypoplasia and foramen magnum stenosis in achondroplasia. 28644737

2017

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia. 26684019

2016

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 GeneticVariation BEFREE Subcutaneous administration of one of these CNP variants (BMN 111) resulted in correction of the dwarfism phenotype in a mouse model of ACH and overgrowth of the axial and appendicular skeletons in wild-type mice without observable changes in trabecular and cortical bone architecture. 25650377

2015

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE A phase 2 multicenter and multinational trial is being developed to evaluate a CNP analog treatment for achondroplasia. 25196103

2014

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.090 Biomarker BEFREE We have shown that targeted overexpression of CNP in cartilage or systemic administration of CNP reverses the impaired skeletal growth of mice model of achondroplasia, the most common form of human skeletal dysplasias. 20567091

2010