Source: INFERRED

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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.354 0.828 1.2E-09
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.358 0.862 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.387 0.862 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.388 0.759 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.393 0.828 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.398 0.759 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
insulin like growth factor 2 0.399 0.828 4.7E-02
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
proliferating cell nuclear antigen 0.417 0.759 0.98
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.418 0.724 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 5340
Gene Symbol: PLG
PLG
plasminogen 0.419 0.862 9.6E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.421 0.759 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.426 0.897 1.3E-05
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.430 0.862 6.2E-02
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.430 0.759 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0