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: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.722 0.269 4.5E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2019 2019
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 59272
Gene Symbol: ACE2
ACE2
angiotensin I converting enzyme 2 0.477 0.769 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 2018 2019
Entrez Id: 43
Gene Symbol: ACHE
ACHE
acetylcholinesterase (Cartwright blood group) 0.445 0.885 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.030 None 1.000 3 0 1992 2019
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.080 None 1.000 8 0 2007 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 1.000 12 1 2007 2019
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2018 2018
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
agrin 0.626 0.538 5.5E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2020 2020
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.030 None 1.000 3 0 2017 2020
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2006 2006
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: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.040 None 1.000 4 0 2014 2019
Entrez Id: 8862
Gene Symbol: APLN
APLN
apelin 0.497 0.769 0.46
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2018 2018
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: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 2018 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.040 None 1.000 4 0 1992 2014
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2016 2016
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: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 1987 2018
Entrez Id: 274
Gene Symbol: BIN1
BIN1
bridging integrator 1 0.550 0.692 0.78
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 2011 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 690
Gene Symbol: BTF3P11
BTF3P11
basic transcription factor 3 pseudogene 11 0.519 0.731
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2019 2019