×
Entrez Id:
9698
Gene Symbol:
PUM1
PUM1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
31859446
2020
×
Entrez Id:
7360
Gene Symbol:
UGP2
UGP2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
31820119
2020
×
Entrez Id:
51399
Gene Symbol:
TRAPPC4
TRAPPC4
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
31794024
2020
×
Entrez Id:
23476
Gene Symbol:
BRD4
BRD4
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
30302754
2019
FAM160B1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
31353455
2019
×
Entrez Id:
23036
Gene Symbol:
ZNF292
ZNF292
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
29904178
2018
×
Entrez Id:
2222
Gene Symbol:
FDFT1
FDFT1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
29909962
2018
×
Entrez Id:
4330
Gene Symbol:
MN1
MN1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.
15870292
2005
×
Entrez Id:
200424
Gene Symbol:
TET3
TET3
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
×
Entrez Id:
816
Gene Symbol:
CAMK2B
CAMK2B
0.100
CausalMutation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
815
Gene Symbol:
CAMK2A
CAMK2A
0.100
CausalMutation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
815
Gene Symbol:
CAMK2A
CAMK2A
0.100
GeneticVariation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
2006
Gene Symbol:
ELN
ELN
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
64327
Gene Symbol:
LMBR1
LMBR1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
857
Gene Symbol:
CAV1
CAV1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
93986
Gene Symbol:
FOXP2
FOXP2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
112476
Gene Symbol:
PRRT2
PRRT2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2688
Gene Symbol:
GH1
GH1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1644
Gene Symbol:
DDC
DDC
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
79728
Gene Symbol:
PALB2
PALB2
0.100
CausalMutation
phenotype
CLINVAR