Source: CLINVAR

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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 2
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 1.000 2 34 2012 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 1.000 3 4 2006 2008
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
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: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 1.000 4 1 2004 2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 2
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 1.000 1 1 2007 2007
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1