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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.150 None 1.000 0 0 2016 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.120 None 1.000 0 0 2016 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.130 None 1.000 0 0 2010 2013
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 1950
Gene Symbol: EGF
EGF
epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 5972
Gene Symbol: REN
REN
renin 0.370 0.923 2.4E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.480 None 1.000 0 0 1998 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.150 None 1.000 0 0 2013 2018
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0