rs104894909
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104894901
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894904
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894905
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs104894901
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
CK syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894902
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894903
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
CK syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894903
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894909
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
CK syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121909833
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
CK syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121909834
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
CK syndrome
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853862
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
CK syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853863
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
CK syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs141571609
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587784222
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587784223
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587784224
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587784225
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587784226
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797045835
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
CCATG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894909
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
|
10710235 |
2000 |
rs104894901
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
|
10710235 |
2000 |
rs104894904
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
|
10710235 |
2000 |
rs104894909
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
|
11907515 |
2002 |
rs104894901
|
Entrez Id: |
50814 |
Gene Symbol: |
NSDHL |
NSDHL
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
|
11907515 |
2002 |