Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 2
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		post-GPI attachment to proteins phospholipase 3 0.628 0.731 1.9E-03
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1