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: 5860
Gene Symbol: QDPR
QDPR 		quinoid dihydropteridine reductase 0.691 0.500 1.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
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: 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: 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: 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: 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: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		RPGR interacting protein 1 0.553 0.654 1.3E-23
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: 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: 58508
Gene Symbol: KMT2C
KMT2C 		lysine methyltransferase 2C 0.558 0.692 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
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: 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: 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: 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: 57061
Gene Symbol: HYMAI
HYMAI 		hydatidiform mole associated and imprinted 0.670 0.538
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		methylcrotonoyl-CoA carboxylase 1 0.700 0.308 4.0E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7 		spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1 		LMBR1 domain containing 1 0.716 0.385 9.0E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0