×
Entrez Id:
51412
Gene Symbol:
ACTL6B
ACTL6B
0.100
GeneticVariation
phenotype
CLINVAR
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
31134736
2019
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.100
GeneticVariation
phenotype
CLINVAR
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
24121961
2014
×
Entrez Id:
7355
Gene Symbol:
SLC35A2
SLC35A2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1822
Gene Symbol:
ATN1
ATN1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
667
Gene Symbol:
DST
DST
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2475
Gene Symbol:
MTOR
MTOR
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
166378
Gene Symbol:
SPATA5
SPATA5
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
54806
Gene Symbol:
AHI1
AHI1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
2314
Gene Symbol:
FLII
FLII
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.100
Biomarker
phenotype
HPO
IL1RAPL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2006
Gene Symbol:
ELN
ELN
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
207
Gene Symbol:
AKT1
AKT1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23129
Gene Symbol:
PLXND1
PLXND1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
340533
Gene Symbol:
NEXMIF
NEXMIF
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6660
Gene Symbol:
SOX5
SOX5
0.100
Biomarker
phenotype
HPO