×
Entrez Id:
2160
Gene Symbol:
F11
F11
0.010
Biomarker
disease
BEFREE
Of these factors, age-to-sit, age-to-walk, PTA , and parental concerns for gross motor developmental delay had the greatest ability to differentiate children with vestibular loss from children with normal vestibular function.
29482202
2018
×
Entrez Id:
171558
Gene Symbol:
PTCRA
PTCRA
0.010
Biomarker
disease
BEFREE
Of these factors, age-to-sit, age-to-walk, PTA , and parental concerns for gross motor developmental delay had the greatest ability to differentiate children with vestibular loss from children with normal vestibular function.
29482202
2018
×
Entrez Id:
171023
Gene Symbol:
ASXL1
ASXL1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
25839
Gene Symbol:
COG4
COG4
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
815
Gene Symbol:
CAMK2A
CAMK2A
0.100
GeneticVariation
disease
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
0.100
CausalMutation
disease
CLINVAR
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
15596759
2004
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.100
CausalMutation
disease
CLINVAR
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
19194956
2009
×
Entrez Id:
63895
Gene Symbol:
PIEZO2
PIEZO2
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
57215
Gene Symbol:
THAP11
THAP11
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
0.100
CausalMutation
disease
CLINVAR
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
19065518
2008
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
80152
Gene Symbol:
CENPT
CENPT
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
4593
Gene Symbol:
MUSK
MUSK
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
4983
Gene Symbol:
OPHN1
OPHN1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.100
CausalMutation
disease
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822
2018
×
Entrez Id:
9321
Gene Symbol:
TRIP11
TRIP11
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
7173
Gene Symbol:
TPO
TPO
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
11152
Gene Symbol:
WDR45
WDR45
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
523
Gene Symbol:
ATP6V1A
ATP6V1A
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
7874
Gene Symbol:
USP7
USP7
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
9024
Gene Symbol:
BRSK2
BRSK2
0.100
CausalMutation
disease
CLINVAR
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
30879638
2019