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: 6496
Gene Symbol: SIX3
SIX3
SIX homeobox 3 0.560 0.692 0.95
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 63035
Gene Symbol: BCORL1
BCORL1
BCL6 corepressor like 1 0.682 0.500 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 6235
Gene Symbol: RPS29
RPS29
ribosomal protein S29 0.729 0.423 0.29
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 567
Gene Symbol: B2M
B2M
beta-2-microglobulin 0.447 0.846 0.56
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5
potassium voltage-gated channel subfamily Q member 5 0.686 0.500 0.98
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
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: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51660
Gene Symbol: MPC1
MPC1
mitochondrial pyruvate carrier 1 0.653 0.577 3.8E-02
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51324
Gene Symbol: SPG21
SPG21
SPG21 abhydrolase domain containing, maspardin 0.695 0.500 6.6E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51206
Gene Symbol: GP6
GP6
glycoprotein VI platelet 0.597 0.615 1.6E-11
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0