Source: HPO

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: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 9409
Gene Symbol: PEX16
PEX16 		peroxisomal biogenesis factor 16 0.597 0.615 8.3E-05
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3 		peroxisomal biogenesis factor 3 0.595 0.731 1.6E-02
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12 		proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		tRNA 0.729 0.538
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 25839
Gene Symbol: COG4
COG4 		component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0