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: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7
ATP binding cassette subfamily A member 7 0.644 0.577 2.1E-55
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 84896
Gene Symbol: ATAD1
ATAD1
ATPase family AAA domain containing 1 0.545 0.692 1.3E-03
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2 0.578 0.577 2.8E-07
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 686
Gene Symbol: BTD
BTD
biotinidase 0.628 0.654 1.5E-07
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
branched chain keto acid dehydrogenase E1 subunit alpha 0.695 0.423 9.8E-09
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB
branched chain keto acid dehydrogenase E1 subunit beta 0.682 0.500 4.3E-09
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.695 0.231 7.4E-13
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0