×
Entrez Id:
8621
Gene Symbol:
CDK13
CDK13
0.100
GeneticVariation
disease
CLINVAR
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
28807008
2017
×
Entrez Id:
10060
Gene Symbol:
ABCC9
ABCC9
0.100
GeneticVariation
disease
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
0.100
CausalMutation
disease
CLINVAR
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
26350204
2015
×
Entrez Id:
65109
Gene Symbol:
UPF3B
UPF3B
0.100
CausalMutation
disease
CLINVAR
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
22609145
2012
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
0.100
CausalMutation
disease
CLINVAR
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
22426309
2012
×
Entrez Id:
65109
Gene Symbol:
UPF3B
UPF3B
0.100
CausalMutation
disease
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:
65109
Gene Symbol:
UPF3B
UPF3B
0.100
CausalMutation
disease
CLINVAR
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
17704778
2007
×
Entrez Id:
284058
Gene Symbol:
KANSL1
KANSL1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
7020
Gene Symbol:
TFAP2A
TFAP2A
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
3778
Gene Symbol:
KCNMA1
KCNMA1
0.100
CausalMutation
disease
CLINVAR
KIDINS220
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
0.100
CausalMutation
disease
CLINVAR
KCNMA1-AS1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
23036
Gene Symbol:
ZNF292
ZNF292
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
51322
Gene Symbol:
WAC
WAC
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
2318
Gene Symbol:
FLNC
FLNC
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
84231
Gene Symbol:
TRAF7
TRAF7
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
6654
Gene Symbol:
SOS1
SOS1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
7994
Gene Symbol:
KAT6A
KAT6A
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
79228
Gene Symbol:
THOC6
THOC6
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
55252
Gene Symbol:
ASXL2
ASXL2
0.100
CausalMutation
disease
CLINVAR