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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 4 2016 2016
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 4
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 2 2016 2016