rs587777230, PIGX;CEP19

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MORBID OBESITY AND SPERMATOGENIC FAILURE
CUI: C3810324
Disease: MORBID OBESITY AND SPERMATOGENIC FAILURE
0.700 CausalMutation CLINVAR
Obesity, Morbid
CUI: C0028756
Disease: Obesity, Morbid
0.020 GeneticVariation BEFREE Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese. 29127258 2018
Obesity, Morbid
CUI: C0028756
Disease: Obesity, Morbid
0.020 GeneticVariation BEFREE Interestingly, a morbid-obesity-associated R82* truncated mutant of CEP19 cannot ciliate nor interact with FOP and CEP350, indicative of a putative role for CEP19 in ciliopathies. 28659385 2017
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese. 29127258 2018
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
0.010 GeneticVariation BEFREE Interestingly, a morbid-obesity-associated R82* truncated mutant of CEP19 cannot ciliate nor interact with FOP and CEP350, indicative of a putative role for CEP19 in ciliopathies. 28659385 2017