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: 85365
Gene Symbol: ALG2
ALG2
ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0234182
Disease: Gowers sign
Gowers sign
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: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2
patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
misato mitochondrial distribution and morphology regulator 1 0.582 0.692 1.6E-09
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.839 0.308 0.23
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
sarcoglycan beta 0.656 0.346 9.6E-07
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1
ORAI calcium release-activated calcium modulator 1 0.520 0.808 1.9E-05
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
myopalladin 0.612 0.615 2.6E-06
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 84197
Gene Symbol: POMK
POMK
protein O-mannose kinase 0.590 0.500 1.9E-08
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2
thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
sarcoglycan gamma 0.621 0.615 4.8E-05
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype 0.100 None 0 0