×
Entrez Id:
9024
Gene Symbol:
BRSK2
BRSK2
Large head (disorder)
0.100
CausalMutation
CLINVAR
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
30879638
2019
×
Entrez Id:
815
Gene Symbol:
CAMK2A
CAMK2A
Large head (disorder)
0.100
CausalMutation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
57459
Gene Symbol:
GATAD2B
GATAD2B
Large head (disorder)
0.100
CausalMutation
CLINVAR
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
28077840
2017
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
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:
10060
Gene Symbol:
ABCC9
ABCC9
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:
2475
Gene Symbol:
MTOR
MTOR
Large head (disorder)
0.100
CausalMutation
CLINVAR
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
27159400
2016
×
Entrez Id:
79158
Gene Symbol:
GNPTAB
GNPTAB
Large head (disorder)
0.100
CausalMutation
CLINVAR
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
25606425
2014
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Large head (disorder)
0.100
GeneticVariation
CLINVAR
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
22595938
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Large head (disorder)
0.100
GeneticVariation
CLINVAR
Lifetime cancer risks in individuals with germline PTEN mutations.
22252256
2012
×
Entrez Id:
65109
Gene Symbol:
UPF3B
UPF3B
Large head (disorder)
0.100
CausalMutation
CLINVAR
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
22609145
2012
×
Entrez Id:
79158
Gene Symbol:
GNPTAB
GNPTAB
Large head (disorder)
0.100
CausalMutation
CLINVAR
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
20880125
2011
×
Entrez Id:
65109
Gene Symbol:
UPF3B
UPF3B
Large head (disorder)
0.100
CausalMutation
CLINVAR
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
19238151
2010
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
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:
65109
Gene Symbol:
UPF3B
UPF3B
Large head (disorder)
0.100
CausalMutation
CLINVAR
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
17704778
2007
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
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:
79158
Gene Symbol:
GNPTAB
GNPTAB
Large head (disorder)
0.100
CausalMutation
CLINVAR
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
16465621
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Large head (disorder)
0.100
CausalMutation
CLINVAR
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
16474404
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Large head (disorder)
0.100
CausalMutation
CLINVAR
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
16638574
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Large head (disorder)
0.100
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Large head (disorder)
0.100
CausalMutation
CLINVAR
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Large head (disorder)
0.100
CausalMutation
CLINVAR
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
15948193
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Large head (disorder)
0.100
CausalMutation
CLINVAR
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
15520399
2004
×
Entrez Id:
374654
Gene Symbol:
KIF7
KIF7
Large head (disorder)
0.100
CausalMutation
CLINVAR
×
Entrez Id:
27245
Gene Symbol:
AHDC1
AHDC1
Large head (disorder)
0.100
CausalMutation
CLINVAR
×
Entrez Id:
5518
Gene Symbol:
PPP2R1A
PPP2R1A
Large head (disorder)
0.100
GeneticVariation
CLINVAR