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: 5908
Gene Symbol: RAP1B
RAP1B
RAP1B, member of RAS oncogene family 0.565 0.769 0.91
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 2007 2016
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 1984 2017
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 2001 2015
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 1996 2016
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.601 0.654 5.8E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 1998 2016
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
THO complex 2 0.650 0.538 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 2008 2017
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.601 0.692 6.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 2001 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX
periaxin 0.650 0.577 2.1E-14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 0 0 2009 2017
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0