rs199673455
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs199673455
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs200327418
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs746781699
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
|
24549054 |
2014 |
rs746781699
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
|
24549054 |
2014 |
rs746781699
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.
|
28944580 |
2017 |
rs746781699
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.
|
28944580 |
2017 |
rs746781699
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
|
22226083 |
2012 |
rs746781699
|
Entrez Id: |
2819 |
Gene Symbol: |
GPD1 |
GPD1
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
|
22226083 |
2012 |