Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 4774
Gene Symbol: NFIA
NFIA
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 54453
Gene Symbol: RIN2
RIN2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR