×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.410
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.410
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
160418
Gene Symbol:
TMTC3
TMTC3
0.330
Biomarker
disease
GENOMICS_ENGLAND
Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement.
27773428
2016
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.410
Biomarker
disease
HPO
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.410
Biomarker
disease
HPO
×
Entrez Id:
729920
Gene Symbol:
CRPPA
CRPPA
0.110
Biomarker
disease
HPO
×
Entrez Id:
10329
Gene Symbol:
RXYLT1
RXYLT1
0.110
Biomarker
disease
HPO
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.110
Biomarker
disease
HPO
×
Entrez Id:
2218
Gene Symbol:
FKTN
FKTN
0.110
Biomarker
disease
HPO
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.100
Biomarker
disease
HPO
×
Entrez Id:
10381
Gene Symbol:
TUBB3
TUBB3
0.100
Biomarker
disease
HPO
×
Entrez Id:
3912
Gene Symbol:
LAMB1
LAMB1
0.100
Biomarker
disease
HPO
B3GALNT2
0.100
Biomarker
disease
HPO
×
Entrez Id:
9215
Gene Symbol:
LARGE1
LARGE1
0.100
Biomarker
disease
HPO
×
Entrez Id:
11041
Gene Symbol:
B4GAT1
B4GAT1
0.100
Biomarker
disease
HPO
×
Entrez Id:
84197
Gene Symbol:
POMK
POMK
0.100
Biomarker
disease
HPO
×
Entrez Id:
84892
Gene Symbol:
POMGNT2
POMGNT2
0.100
Biomarker
disease
HPO
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.100
Biomarker
disease
HPO
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.410
GeneticVariation
disease
BEFREE
The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%).
22323514
2012
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.410
GeneticVariation
disease
BEFREE
The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%).
22323514
2012
×
Entrez Id:
160418
Gene Symbol:
TMTC3
TMTC3
0.330
Biomarker
disease
BEFREE
Our data identified TMTC3 as a synaptic protein that is involved in PVNH with ID and epilepsy, in addition to its previously described association with cobblestone lissencephaly .
28973161
2017
×
Entrez Id:
160418
Gene Symbol:
TMTC3
TMTC3
0.330
Biomarker
disease
BEFREE
Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement.
27773428
2016
×
Entrez Id:
160418
Gene Symbol:
TMTC3
TMTC3
0.330
Biomarker
disease
BEFREE
Our study demonstrates that TMTC3 regulates O-linked glycosylation and cadherin-mediated adherence, providing insight into its effect on cellular adherence and migration, as well the basis of TMTC3 -associated Cobblestone lissencephaly .
31851597
2020
×
Entrez Id:
10329
Gene Symbol:
RXYLT1
RXYLT1
0.110
GeneticVariation
disease
BEFREE
All these cases displayed a severe phenotype of cobblestone lissencephaly A. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.
23217329
2012
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.110
GeneticVariation
disease
BEFREE
The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%).
22323514
2012