Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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