|
| Entrez Id: |
1535 |
| Gene Symbol: |
CYBA |
CYBA
|
0.400 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2719 |
| Gene Symbol: |
GPC3 |
GPC3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
201294 |
| Gene Symbol: |
UNC13D |
UNC13D
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
|
| Entrez Id: |
6005 |
| Gene Symbol: |
RHAG |
RHAG
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
84061 |
| Gene Symbol: |
MAGT1 |
MAGT1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79158 |
| Gene Symbol: |
GNPTAB |
GNPTAB
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2629 |
| Gene Symbol: |
GBA |
GBA
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5261 |
| Gene Symbol: |
PHKG2 |
PHKG2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3020 |
| Gene Symbol: |
H3-3A |
H3-3A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2592 |
| Gene Symbol: |
GALT |
GALT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10577 |
| Gene Symbol: |
NPC2 |
NPC2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6125 |
| Gene Symbol: |
RPL5 |
RPL5
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5551 |
| Gene Symbol: |
PRF1 |
PRF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
388650 |
| Gene Symbol: |
DIPK1A |
DIPK1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
27241 |
| Gene Symbol: |
BBS9 |
BBS9
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3073 |
| Gene Symbol: |
HEXA |
HEXA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
|
| Entrez Id: |
1080 |
| Gene Symbol: |
CFTR |
CFTR
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2538 |
| Gene Symbol: |
G6PC |
G6PC
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
85444 |
| Gene Symbol: |
LRRCC1 |
LRRCC1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
|
26160551 |
2015 |
|
| Entrez Id: |
5184 |
| Gene Symbol: |
PEPD |
PEPD
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
|
16470701 |
2006 |