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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
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: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
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: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
epithelial cell adhesion molecule 0.451 0.885 1.3E-07
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
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: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 1356
Gene Symbol: CP
CP
ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 0