rs2248137, CYP24A1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.010 GeneticVariation BEFREE The findings of our study suggest a role of rs2248137 CYP24A1 in multiple sclerosis risk. 30088172 2018
Differentiated Thyroid Gland Carcinoma
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012
Primary differentiated carcinoma of thyroid gland
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012