rs121908175, BBS2

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Bardet-Biedl syndrome 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705 2010
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139 2001
Bardet-Biedl syndrome 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
0.700 GeneticVariation CLINVAR
BARDET-BIEDL SYNDROME 2/6, DIGENIC
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
0.700 CausalMutation CLINVAR
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
0.700 GeneticVariation CLINVAR
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
0.700 GeneticVariation CLINVAR
RETINITIS PIGMENTOSA 74
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
0.700 CausalMutation CLINVAR
Polydactyly
CUI: C0152427
Disease: Polydactyly
0.700 GeneticVariation CLINVAR