BBS7, Bardet-Biedl syndrome 7, 55212

N. diseases: 47; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 GeneticVariation group BEFREE Three full- or half-sibling monkeys homozygous for the BBS7 c.160delG variant, at ages 3.5, 4 and 6 years old, displayed a combination of severe photoreceptor degeneration and progressive kidney disease. 31589838 2019
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.010 GeneticVariation disease BEFREE Thus, monkeys homozygous for the BBS7 c.160delG variant closely mirrored several key features of the human BBS syndrome. 31589838 2019
CUI: C0266453
Disease: Exencephaly
Exencephaly 		0.010 GeneticVariation disease BEFREE Knockout of Bbs7 combined with a hypomorphic Ift88 allele (orpk as a model for Shh dysfuction) results in embryonic lethality with e12.5 embryos having exencephaly, pericardial edema, cleft palate and abnormal limb development, phenotypes not observed in Bbs7(-/-) mice. 22228099 2012
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 Biomarker group HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.100 Biomarker group HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker group HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 Biomarker disease HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		0.100 Biomarker disease HPO
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation group CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO