Entrez Id: |
2186 |
Gene Symbol: |
BPTF |
BPTF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
Entrez Id: |
84617 |
Gene Symbol: |
TUBB6 |
TUBB6
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
Entrez Id: |
10939 |
Gene Symbol: |
AFG3L2 |
AFG3L2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
Entrez Id: |
80208 |
Gene Symbol: |
SPG11 |
SPG11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
|
19194956 |
2009 |
Entrez Id: |
3064 |
Gene Symbol: |
HTT |
HTT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
51601 |
Gene Symbol: |
LIPT1 |
LIPT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1786 |
Gene Symbol: |
DNMT1 |
DNMT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
55739 |
Gene Symbol: |
NAXD |
NAXD
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1387 |
Gene Symbol: |
CREBBP |
CREBBP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55858 |
Gene Symbol: |
TMEM165 |
TMEM165
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
3155 |
Gene Symbol: |
HMGCL |
HMGCL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
9420 |
Gene Symbol: |
CYP7B1 |
CYP7B1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1436 |
Gene Symbol: |
CSF1R |
CSF1R
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
23332 |
Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
3912 |
Gene Symbol: |
LAMB1 |
LAMB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
7084 |
Gene Symbol: |
TK2 |
TK2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
2632 |
Gene Symbol: |
GBE1 |
GBE1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
10749 |
Gene Symbol: |
KIF1C |
KIF1C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
35 |
Gene Symbol: |
ACADS |
ACADS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1807 |
Gene Symbol: |
DPYS |
DPYS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
203228 |
Gene Symbol: |
C9orf72 |
C9orf72
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
54551 |
Gene Symbol: |
MAGEL2 |
MAGEL2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
25978 |
Gene Symbol: |
CHMP2B |
CHMP2B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|