|
| Entrez Id: |
26353 |
| Gene Symbol: |
HSPB8 |
HSPB8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
|
29029362 |
2018 |
|
| Entrez Id: |
26353 |
| Gene Symbol: |
HSPB8 |
HSPB8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
|
28501893 |
2017 |
|
| Entrez Id: |
26353 |
| Gene Symbol: |
HSPB8 |
HSPB8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
|
26976520 |
2016 |
|
| Entrez Id: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
| Entrez Id: |
128989 |
| Gene Symbol: |
TANGO2 |
TANGO2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
|
26805781 |
2016 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
| Entrez Id: |
6513 |
| Gene Symbol: |
SLC2A1 |
SLC2A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
|
25487684 |
2015 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
| Entrez Id: |
6513 |
| Gene Symbol: |
SLC2A1 |
SLC2A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
|
22976442 |
2012 |
|
| Entrez Id: |
6513 |
| Gene Symbol: |
SLC2A1 |
SLC2A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
|
21555602 |
2011 |
|
| Entrez Id: |
23321 |
| Gene Symbol: |
TRIM2 |
TRIM2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
27235 |
| Gene Symbol: |
COQ2 |
COQ2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9907 |
| Gene Symbol: |
AP5Z1 |
AP5Z1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
267010 |
| Gene Symbol: |
RNU12 |
RNU12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7156 |
| Gene Symbol: |
TOP3A |
TOP3A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4358 |
| Gene Symbol: |
MPV17 |
MPV17
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4297 |
| Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57459 |
| Gene Symbol: |
GATAD2B |
GATAD2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
131669 |
| Gene Symbol: |
UROC1 |
UROC1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7737 |
| Gene Symbol: |
RNF113A |
RNF113A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6443 |
| Gene Symbol: |
SGCB |
SGCB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5727 |
| Gene Symbol: |
PTCH1 |
PTCH1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1200 |
| Gene Symbol: |
TPP1 |
TPP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|