rs113624356
|
|
Congenital heart disease
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Biliary Atresia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Curved toe phalanx
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Gastrointestinal malrotation
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
obsolete Rod-cone dystrophy
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Vitamin B 12 Deficiency
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Polycystic Kidney Diseases
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Polydactyly
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Asthma
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Poor school performance
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Delayed social development
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Childhood-onset truncal obesity
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113624356
|
|
Bardet-Biedl syndrome 1 (disorder)
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
rs113624356
|
|
Bardet-Biedl Syndrome
|
G |
0.750 |
CausalMutation
|
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
rs113624356
|
|
Retinitis Pigmentosa
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
rs113624356
|
|
Retinal Dystrophies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
rs113624356
|
|
Bardet-Biedl syndrome 1 (disorder)
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
rs113624356
|
|
Bardet-Biedl syndrome 1 (disorder)
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
rs113624356
|
|
Bardet-Biedl Syndrome
|
G |
0.750 |
CausalMutation
|
CLINVAR |
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
|
12837689 |
2003 |
rs113624356
|
|
Bardet-Biedl Syndrome
|
G |
0.750 |
CausalMutation
|
CLINVAR |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
rs113624356
|
|
Bardet-Biedl Syndrome
|
G |
0.750 |
CausalMutation
|
CLINVAR |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
rs113624356
|
|
Bardet-Biedl Syndrome
|
G |
0.750 |
CausalMutation
|
CLINVAR |
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
|
15314642 |
2004 |
rs113624356
|
|
Bardet-Biedl syndrome 1 (disorder)
|
G |
0.810 |
CausalMutation
|
CLINVAR |
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
|
18032602 |
2007 |
rs113624356
|
|
Bardet-Biedl Syndrome
|
G |
0.750 |
CausalMutation
|
CLINVAR |
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
|
18032602 |
2007 |
rs113624356
|
|
Bardet-Biedl Syndrome
|
G |
0.750 |
CausalMutation
|
CLINVAR |
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
|
18766993 |
2008 |