Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 GeneticVariation CLINVAR