Source: BEFREE

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: 5286
Gene Symbol: PIK3C2A
PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 1979 1989
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1995 1995
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1997 1997
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1997 1997
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1997 1997
Entrez Id: 4233
Gene Symbol: MET
MET
MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1998 1998
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1998 1998
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1 0.416 0.846 2.4E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1998 1998
Entrez Id: 8731
Gene Symbol: RNMT
RNMT
RNA guanine-7 methyltransferase 0.647 0.500 5.7E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 1999 1999
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
adenosine monophosphate deaminase 1 0.573 0.692 1.9E-21
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.410 None 1.000 1 0 2000 2000
Entrez Id: 1270
Gene Symbol: CNTF
CNTF
ciliary neurotrophic factor 0.561 0.615 2.3E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5972
Gene Symbol: REN
REN
renin 0.370 0.923 2.4E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2000 2000
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
tropomyosin 1 0.560 0.615 1.0E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2000 2000
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1
GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.539 0.615 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6700
Gene Symbol: SPRR2A
SPRR2A
small proline rich protein 2A 0.612 0.731
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 859
Gene Symbol: CAV3
CAV3
caveolin 3 0.564 0.692 5.5E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 2000 2003
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
RAB7A, member RAS oncogene family 0.597 0.692 0.97
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 2000 2003
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
collagen type VI alpha 3 chain 0.563 0.769 1.8E-20
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2003 2003
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2003 2003
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
N-myc downstream regulated 1 0.488 0.731 1.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2004 2004
Entrez Id: 64759
Gene Symbol: TNS3
TNS3
tensin 3 0.653 0.615 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7555
Gene Symbol: CNBP
CNBP
CCHC-type zinc finger nucleic acid binding protein 0.556 0.692 0.96
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2004 2004