|
| Entrez Id: |
7343 |
| Gene Symbol: |
UBTF |
UBTF
|
Developmental regression
|
0.400 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
Developmental regression
|
0.130 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
80155 |
| Gene Symbol: |
NAA15 |
NAA15
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5728 |
| Gene Symbol: |
PTEN |
PTEN
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
253738 |
| Gene Symbol: |
EBF3 |
EBF3
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5530 |
| Gene Symbol: |
PPP3CA |
PPP3CA
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
54982 |
| Gene Symbol: |
CLN6 |
CLN6
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
128989 |
| Gene Symbol: |
TANGO2 |
TANGO2
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
|
26805781 |
2016 |
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
8398 |
| Gene Symbol: |
PLA2G6 |
PLA2G6
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2782 |
| Gene Symbol: |
GNB1 |
GNB1
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
|
| Entrez Id: |
6334 |
| Gene Symbol: |
SCN8A |
SCN8A
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
|
| Entrez Id: |
4669 |
| Gene Symbol: |
NAGLU |
NAGLU
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
|
| Entrez Id: |
29123 |
| Gene Symbol: |
ANKRD11 |
ANKRD11
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2033 |
| Gene Symbol: |
EP300 |
EP300
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
8893 |
| Gene Symbol: |
EIF2B5 |
EIF2B5
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
|
1532289 |
1992 |
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
|
9150157 |
1997 |
|
| Entrez Id: |
3746 |
| Gene Symbol: |
KCNC1 |
KCNC1
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6448 |
| Gene Symbol: |
SGSH |
SGSH
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
215 |
| Gene Symbol: |
ABCD1 |
ABCD1
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1200 |
| Gene Symbol: |
TPP1 |
TPP1
|
Developmental regression
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|