×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
30661772
2019
×
Entrez Id:
7468
Gene Symbol:
NSD2
NSD2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Small 4p16.3 deletions: Three additional patients and review of the literature.
30244530
2018
×
Entrez Id:
10735
Gene Symbol:
STAG2
STAG2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.
25450604
2015
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
0.100
CausalMutation
phenotype
CLINVAR
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
27075689
2016
×
Entrez Id:
2782
Gene Symbol:
GNB1
GNB1
0.100
CausalMutation
phenotype
CLINVAR
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
27108799
2016
×
Entrez Id:
5830
Gene Symbol:
PEX5
PEX5
0.100
CausalMutation
phenotype
CLINVAR
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
26220973
2015
×
Entrez Id:
10717
Gene Symbol:
AP4B1
AP4B1
0.100
CausalMutation
phenotype
CLINVAR
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
22290197
2012
AP4B1-AS1
0.100
CausalMutation
phenotype
CLINVAR
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
22290197
2012
×
Entrez Id:
10717
Gene Symbol:
AP4B1
AP4B1
0.100
CausalMutation
phenotype
CLINVAR
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
21620353
2011
AP4B1-AS1
0.100
CausalMutation
phenotype
CLINVAR
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
21440262
2011
AP4B1-AS1
0.100
CausalMutation
phenotype
CLINVAR
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
21620353
2011
×
Entrez Id:
10717
Gene Symbol:
AP4B1
AP4B1
0.100
CausalMutation
phenotype
CLINVAR
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
21440262
2011
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
93210
Gene Symbol:
PGAP3
PGAP3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3918
Gene Symbol:
LAMC2
LAMC2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4882
Gene Symbol:
NPR2
NPR2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
51010
Gene Symbol:
EXOSC3
EXOSC3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1716
Gene Symbol:
DGUOK
DGUOK
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
56945
Gene Symbol:
MRPS22
MRPS22
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55750
Gene Symbol:
AGK
AGK
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
5932
Gene Symbol:
RBBP8
RBBP8
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6125
Gene Symbol:
RPL5
RPL5
0.100
Biomarker
phenotype
HPO