×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
0.400
GeneticVariation
disease
CLINVAR
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
30661772
2019
×
Entrez Id:
23363
Gene Symbol:
OBSL1
OBSL1
0.100
GeneticVariation
disease
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518
2019
×
Entrez Id:
25942
Gene Symbol:
SIN3A
SIN3A
0.100
CausalMutation
disease
CLINVAR
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
30267900
2019
×
Entrez Id:
5898
Gene Symbol:
RALA
RALA
0.100
CausalMutation
disease
CLINVAR
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
30500825
2018
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
0.100
CausalMutation
disease
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372
2017
×
Entrez Id:
25
Gene Symbol:
ABL1
ABL1
0.100
CausalMutation
disease
CLINVAR
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
28288113
2017
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
GeneticVariation
disease
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
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:
7994
Gene Symbol:
KAT6A
KAT6A
0.100
CausalMutation
disease
CLINVAR
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
25728777
2015
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
112939
Gene Symbol:
NACC1
NACC1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
5888
Gene Symbol:
RAD51
RAD51
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2776
Gene Symbol:
GNAQ
GNAQ
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
79728
Gene Symbol:
PALB2
PALB2
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
9990
Gene Symbol:
SLC12A6
SLC12A6
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
7021
Gene Symbol:
TFAP2B
TFAP2B
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2517
Gene Symbol:
FUCA1
FUCA1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
1859
Gene Symbol:
DYRK1A
DYRK1A
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
23314
Gene Symbol:
SATB2
SATB2
0.100
CausalMutation
disease
CLINVAR