nervous system disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
Further patients will have to be identified and characterised in order to fully define the core features of GTPBP2-associated neurological disorder, but future approaches to molecular diagnosis of neurodevelopmental disorders should implement GTPBP2.
|
29449720 |
2018 |
Severe intellectual disability
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
|
29449720 |
2018 |
Neurodevelopmental Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Further patients will have to be identified and characterised in order to fully define the core features of GTPBP2-associated neurological disorder, but future approaches to molecular diagnosis of neurodevelopmental disorders should implement GTPBP2.
|
29449720 |
2018 |
Retinal damage
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
A recent report of identification of another splice site mutation in GTPBP2 in mice that causes neurodegeneration, and retinal damage provides supportive evidence for our finding.
|
26675814 |
2016 |
Carcinoma
|
0.010 |
Biomarker
|
group |
BEFREE |
7p21.3 [ARL4A]) and for carcinomas (16p13.3 [RBFOX1] and 6p21 [POLH, GTPBP2, RSPH9, and VEGFA]).
|
25575132 |
2015 |
Xeroderma pigmentosum, variant type
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
|
18703314 |
2008 |
Xeroderma pigmentosum, variant type
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.
|
11121129 |
2000 |
Congenital clubfoot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Kyphosis deformity of spine
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Myopia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Optic Atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Scoliosis, unspecified
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Choreoathetosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Joint laxity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyperreflexia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Joint stiffness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebellar Dysmetria
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Low set ears
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hand clenching
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of the dentition
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dysmorphic facies
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|