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: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
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: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 220296
Gene Symbol: HEPACAM
HEPACAM
hepatic and glial cell adhesion molecule 0.621 0.500 0.87
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
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: 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: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 2
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
lysine methyltransferase 5B 0.736 0.423 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
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: 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: 23209
Gene Symbol: MLC1
MLC1
modulator of VRAC current 1 0.585 0.769 3.2E-08
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 1.000 3 1 2006 2014
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: 4868
Gene Symbol: NPHS1
NPHS1
NPHS1 adhesion molecule, nephrin 0.597 0.615 2.5E-14
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
nuclear factor I A 0.599 0.808 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 4781
Gene Symbol: NFIB
NFIB
nuclear factor I B 0.573 0.654 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 7
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: 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: 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: 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: 5528
Gene Symbol: PPP2R5D
PPP2R5D
protein phosphatase 2 regulatory subunit B'delta 0.722 0.462 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
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: 54453
Gene Symbol: RIN2
RIN2
Ras and Rab interactor 2 0.623 0.692 8.1E-04
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1