| Gene | Abstracts | Lvl | Category | Sub-Category | Notes |
|---|---|---|---|---|---|
| VDR | 885 | 9.9 | Experimental evidence of functional variant | 12468277, | |
| PTH | 166 | 9.9 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | 26339419 Nearest gene ~4600 bp |
| GC | 141 | 9.9 | Experimental evidence of functional variant | 22887780 | |
| CYP24A1 | 140 | 9.9 | Experimental evidence of functional variant | 23001465 23293122 Related to vitamin D pathway (CYP24A1 is a vitamin D responsive gene) Associated with elevated serum levels of 1,25-dihydroxyvitamin D3 | |
| CYP2R1 | 139 | 9.9 | Experimental evidence of functional variant | 15128933 | |
| CYP27B1 | 115 | 9.9 | Experimental evidence of functional variant | 10566658 17488797 22588163 | |
| DHCR7 | 79 | 9.9 | Other evidence of a functional genetic variant | GWAS/rs within gen | 27732326 rs11603330 |
| BGLAP | 68 | 9.9 | Biologically related but no mutation | ||
| DBP | 63 | 9.9 | Annotation error | DBP:D-box binding PAR bZIP transcription factor NOT vitamin D binding protein | |
| CASR | 45 | 9.9 | Genetic variant in a related disease | ||
| CDX2 | 41 | 9.9 | Unrelated | CDX2: enzyme | |
| FGF23 | 37 | 9.9 | Biologically related but no mutation | ||
| RXRA | 36 | 9.9 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | 20307661 Associated with circulating levels of vitamin D metabolites ~8 kb 28079136 Significantly associated with 25(OH)D dose-response |
| NADSYN1 | 35 | 9.9 | Other evidence of a functional genetic variant | GWAS/rs within gen | 20418485: rs3829251 22785457: rs10898191 26149120: rs12785878 |
| CYP27A1 | 27 | 9.9 | Other evidence of a functional genetic variant | GWAS/rs within gen | 29153269 (rs933994) 26109216 (rs17470271) The genotype distributions of 13 SNPs (in the following genes: 7-dehydrocholesterol reductase NADSYN1/ DHCR7, vitamin D receptor VDR, group-specific component GC and CYP27A1) that showed a nominal association with 25-hydroxyvitamin D concentration (p<0.05) were compared between case and control families. |
| ESR1 | 27 | 7.6 | Genetic variant in a related disease | ||
| ZNF410:Apa1(22) | 24 | 9.9 | Biologically related but no mutation | ||
| PHEX | 22 | 9.9 | Genetic variant in a related disease | ||
| SLC25A18:Gc2(13) | 20 | 9.9 | Annotation error | Gc2 is isoform of GC not Glutamate Carrier 2 | |
| INS:insulin(26) | 19 | 0 | Biologically related but no mutation | ||
| CRP | 18 | 0 | Negative evidence | 29320465: No 25(OH)D-CRP genotype interactions were evident | |
| IL6 | 17 | 0 | Unrelated | ||
| HLA-DRB1 | 14 | 5.8 | Genetic variant in a related disease | ||
| ALAD | 13 | 9.9 | Unrelated | ||
| ALPP:alkaline phosphatase(15) | 13 | 9.9 | Biologically related but no mutation | ||
| IGF1 | 13 | 0.3 | Unrelated | ||
| IL10 | 13 | 9.9 | Unrelated | ||
| TGFB1 | 13 | 0 | Genetic variant in a related disease | ||
| CYP3A4 | 11 | 2.8 | Experimental evidence of functional variant | 29461981 | |
| IFNL3:IL28B(9) | 11 | 9.9 | Negative evidence | No relationships were found between 25(OH)D levels and biochemical liver tests, fibrosis stage and IL28B genotype (HCV infection) | |
| LRP2 | 11 | 9.9 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | 29153269: Haplotypes of GC and LRP2 genes shown significant associations with 25(OH)D levels among pregnant women, respectively. (Other evidence of genetic alteration). |
| TNFRSF11B | 11 | 6.8 | Genetic variant in a related disease | ||
| SLC25A22:Gc1(8) | 11 | 9.9 | Annotation error | Gc1: isoform of GC not Glutamate Carrier 1 | |
| GNAS | 10 | 8.4 | Unrelated | ||
| COL1A1 | 9 | 7.7 | Unrelated | ||
| GALNT3 | 9 | 9.9 | Unrelated | ||
| APOE | 9 | 0.5 | Unrelated | ||
| IL4 | 9 | 0 | Genetic variant in a related disease | (Undefined) | 21819409 |
| TF:transferrin(7) | 9 | 0.3 | Unrelated | ||
| TNF | 9 | 9.9 | Unrelated | ||
| COL1A2 | 8 | 6 | Biologically related but no mutation | ||
| SLC34A3 | 8 | 9.9 | Genetic variant in a related disease | ||
| AR | 8 | 1.1 | Genetic variant in a related disease | ||
| CUBN | 8 | 9.9 | Experimental evidence of functional variant | 11717447 Human patients with mutations causing cubilin dysfunction exhibit urinary excretion of 25(OH) vitamin D(3). | |
| KL | 8 | 8.9 | Genetic variant in a related disease | 26022923 Renal transplant (RT) recipients with FV phenotype had significantly lower levels of 1,25D compared to both recipients with FF phenotype and control subjects, whereas the level of 1,25D in RT recipients with FF phenotype was significantly higher than control subjects ( table 6 ). The level of 1,25D correlated negatively with KL polymorphism (r = _0.538, p = 0.006) in RT recipients | |
| KLK3:prostate-specific antigen(4) | 7 | 0 | Biologically related but no mutation | ||
| LCT | 7 | 5.7 | Biologically related but no mutation | ||
| MC1R | 7 | 7.2 | Genetic variant in a related disease | ||
| SHBG | 7 | 2.2 | Unrelated | ||
| CTNNB1 | 6 | 0 | Negative evidence | 25396269 | |
| ACE | 6 | 0 | Genetic variant in a related disease | ||
| EGFR | 6 | 0 | Genetic variant in a related disease | 25030993 | |
| ALPL | 6 | 8.4 | Unrelated | ||
| IFNG | 6 | 0 | Biologically related but no mutation | ||
| KRAS | 6 | 0 | Biologically related but no mutation | ||
| MTHFR | 6 | 1.4 | Genetic variant in a related disease | ||
| TRPV6 | 6 | 9.1 | Biologically related but no mutation | ||
| SP1 | 6 | 1.1 | Unrelated | ||
| TNFSF11 | 6 | 9.9 | Genetic variant in a related disease | ||
| CFTR | 5 | 9.9 | Biologically related but no mutation | ||
| FLG | 5 | 4.8 | Experimental evidence of functional variant | 23460889 FLG mutations is associated with increased serum 25-hydroxyvitamin D concentrations. | |
| CXCL8:IL-8(3) | 5 | 0 | Biologically related but no mutation | ||
| IL17A | 5 | 0.2 | Biologically related but no mutation | ||
| ATHS:ALP(5) | 5 | 3.6 | Annotation error | ALP: is refered to alkaline phosphatase (gene name: ALPL) | |
| NELFCD:Th1(7) | 5 | 0 | Biologically related but no mutation | ||
| MED1:DRIP205(4) | 5 | 7.3 | Biologically related but no mutation | ||
| PTHLH:PTHrP(4) | 5 | 2.5 | Unrelated | ||
| CCL2 | 5 | 0 | Biologically related but no mutation | ||
| SPP1:osteopontin(5) | 5 | 1 | Biologically related but no mutation | ||
| BRAF | 5 | 0.1 | Genetic variant in a related disease | ||
| TP53 | 5 | 0 | Biologically related but no mutation | ||
| CD4 | 5 | 9.9 | Biologically related but no mutation | ||
| CD8A:CD8(5) | 5 | 9.9 | Biologically related but no mutation | ||
| NCOA2 | 4 | 4.9 | Biologically related but no mutation | ||
| COX8A:Cox(3) | 4 | 0 | Annotation error | ||
| CYP17A1 | 4 | 2.4 | Unrelated | ||
| AGT | 4 | 0 | Unrelated | ||
| ERBB2:HER2(3) | 4 | 0 | Unrelated | ||
| GSTM1 | 4 | 1.2 | Unrelated | ||
| GSTP1 | 4 | 1.5 | Unrelated | ||
| HLA-DQB1 | 4 | 1 | Genetic variant in a related disease | ||
| IGHE:IgE(3) | 4 | 1.3 | Biologically related but no mutation | ||
| IRF4 | 4 | 3.9 | Genetic variant in a related disease | ||
| GSTK1:glutathione S-transferase(3) | 4 | 0.7 | Unrelated | ||
| LRP5 | 4 | 3.7 | Negative evidence | ||
| CYP4F3:cytochrome P450, family 2(2) | 4 | 0.2 | Annotation error | Description of CYP2R1 not CYP4F3 | |
| MEFV | 4 | 2.5 | Genetic variant in a related disease | ||
| SERPINC1 | 4 | 0 | Biologically related but no mutation | ||
| NOS3:endothelial nitric oxide synthase(5) | 4 | 0.6 | Unrelated | ||
| VIT | 4 | 4.5 | Annotation error | VIT: is refered to Vitamin not Vitrin | |
| SERPINA1:alpha-1-antitrypsin(2) | 4 | 0 | Unrelated | ||
| NOD2 | 4 | 2.1 | Genetic variant in a related disease | ||
| SLC34A1 | 4 | 7.9 | Unrelated | ||
| FTO | 4 | 2.7 | Genetic variant in a related disease | ||
| C10orf88 | 4 | 9.9 | Negative evidence | 20418485 | |
| NCOA1 | 4 | 5.2 | Biologically related but no mutation | ||
| NR1I2 | 4 | 2.4 | Biologically related but no mutation | ||
| ADIPOQ | 4 | 0 | Unrelated | ||
| SLCO1B1 | 3 | 2.3 | Genetic variant in a related disease | 21547103 29420305 | |
| COL2A1 | 3 | 9.9 | Genetic variant in a related disease | ||
| AFP | 3 | 0 | Unrelated | ||
| DMP1 | 3 | 3.4 | Unrelated | ||
| EDN1 | 3 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | 25396269 Intergenic region |
| F2:METAVIR F0, F1 and F2(1) | 3 | 0 | Annotation error | METAVIR F0, F1 and F2: Liver damage scale | |
| GAPDH | 3 | 0.5 | Biologically related but no mutation | ||
| GATA3 | 3 | 1.4 | Unrelated | ||
| GH1 | 3 | 0 | Genetic variant in a related disease | ||
| GSTT1 | 3 | 1.1 | Unrelated | ||
| CFH | 3 | 1.2 | Genetic variant in a related disease | ||
| IGFBP3 | 3 | 0.2 | Biologically related but no mutation | ||
| IL2:IL-2(2) | 3 | 0 | Biologically related but no mutation | ||
| IL2RA | 3 | 0 | Biologically related but no mutation | ||
| IL12B | 3 | 3 | Genetic variant in a related disease | ||
| MYC:c-myc(3) | 3 | 0 | Biologically related but no mutation | ||
| ENPP1 | 3 | 3.6 | Unrelated | ||
| PIK3CA | 3 | 0.5 | Genetic variant in a related disease | ||
| PPARA:PPAR(5) | 3 | 0.1 | Biologically related but no mutation | ||
| PTPRN:IA-2(2) | 3 | 2.2 | Unrelated | ||
| CCND1:cyclin D1(2) | 3 | 0 | Biologically related but no mutation | ||
| REN:renin(5) | 3 | 9.9 | Biologically related but no mutation | ||
| RXRB | 3 | 4.8 | Genetic variant in a related disease | ||
| RXRG | 3 | 6.9 | Genetic variant in a related disease | ||
| CCL5 | 3 | 0.1 | Biologically related but no mutation | ||
| TYR | 3 | 0.5 | Unrelated | ||
| TYRP1 | 3 | 9.9 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| CALCR | 3 | 2.5 | Genetic variant in a related disease | ||
| SELENBP1:SBP(3) | 3 | 0.1 | Annotation error | SBP is refered to systolic blood pressure | |
| GLYAT:GAT(1) | 2 | 2 | Annotation error | GAT is refered to nucleotide polymorphism not gene | |
| TCIRG1 | 2 | 3.5 | Unrelated | ||
| SEC23A | 2 | 5.2 | Other evidence of a functional genetic variant | GWAS/rs within gen | |
| OLFM4:Gc1/1(1) | 2 | 3.5 | Annotation error | ||
| TXNIP | 2 | 2.3 | Negative evidence | ||
| RGS14 | 2 | 4.7 | Unrelated | ||
| MGEA5:N-acetyl-beta-D-glucosaminidase(2) | 2 | 0.4 | Unrelated | ||
| CEACAM3:CEA(2) | 2 | 0 | Unrelated | ||
| APOA5 | 2 | 9.9 | Genetic variant in a related disease | ||
| CLU:clusterin(2) | 2 | 1.1 | Unrelated | ||
| CCR5 | 2 | 0 | Unrelated | ||
| CP:ceruloplasmin(2) | 2 | 0.1 | Unrelated | ||
| AMDHD1 | 2 | 8.2 | Other evidence of a functional genetic variant | GWAS/rs within gen | |
| ADRA1D:alpha-1(2) | 2 | 0.1 | Unrelated | ||
| CST3:cystatin C(1) | 2 | 0 | Unrelated | ||
| IL23R | 2 | 1.7 | Unrelated | ||
| CTLA4 | 2 | 0 | Unrelated | ||
| CYP19A1 | 2 | 0.4 | Unrelated | ||
| TMPRSS6 | 2 | 9.9 | Unrelated | ||
| DHX15:DBP1(1) | 2 | 4.3 | Annotation error | DBP: Vitamin D binding protein, not the gen | |
| AHSG:fetuin-A(3) | 2 | 1.3 | Biologically related but no mutation | ||
| EPHB2 | 2 | 1.4 | Biologically related but no mutation | ||
| EPO | 2 | 0 | Biologically related but no mutation | ||
| MS4A2 | 2 | 3.9 | Genetic variant in a related disease | ||
| FGB:fibrinogen(2) | 2 | 0 | Unrelated | ||
| COG2:low-density lipoprotein-C(1) | 2 | 0.3 | Annotation error | ||
| DKK1 | 2 | 9.9 | Biologically related but no mutation | ||
| CLDN14 | 2 | 4.7 | Unrelated | ||
| MTOR | 2 | 0 | Biologically related but no mutation | ||
| GAD2:GAD(65)(1) | 2 | 1.1 | Unrelated | ||
| COPD | 2 | 0 | Annotation error | COPD: Chronic obstructive pulmonary disease not gene | |
| SLC17A5:AST(2) | 2 | 9.9 | Annotation error | ||
| AMH | 2 | 0.4 | Biologically related but no mutation | ||
| GLI2:THP-1(2) | 2 | 0 | Biologically related but no mutation | ||
| GPT:alanine aminotransferase(2) | 2 | 0 | Unrelated | ||
| IGKV1D-17:L1-4(2) | 2 | 9.9 | Annotation error | L1-4 | |
| HBA1 | 2 | 0 | Biologically related but no mutation | ||
| HFE | 2 | 0.6 | Unrelated | ||
| HLA-B | 2 | 0 | Other evidence of a functional genetic variant | GWAS/rs within gen | 27623983 |
| HRAS | 2 | 0.2 | Unrelated | ||
| IL4R | 2 | 1.1 | Unrelated | ||
| IL13 | 2 | 0 | Genetic variant in a related disease | ||
| ACADSB | 2 | 5.9 | Negative evidence | ||
| INSR | 2 | 0 | Unrelated | ||
| ARMS2 | 2 | 2.7 | Biologically related but no mutation | ||
| LMNA | 2 | 9.9 | Unrelated | ||
| LTA:TNFB(1) | 2 | 0.8 | Unrelated | ||
| SMAD3 | 2 | 0.4 | Genetic variant in a related disease | ||
| MEN1 | 2 | 0.6 | Unrelated | ||
| KITLG | 2 | 0 | Negative evidence | ||
| MITF | 2 | 1.2 | Negative evidence | ||
| MMP9 | 2 | 0 | Biologically related but no mutation | ||
| COX2 | 2 | 0 | Unrelated | ||
| NF1 | 2 | 0 | Unrelated | ||
| NFKB1:NF-kappaB(1) | 2 | 0 | Biologically related but no mutation | ||
| OCRL | 2 | 3.2 | Unrelated | ||
| PDE3B | 2 | 2.7 | Other evidence of a functional genetic variant | GWAS/rs within gen | 25208829 |
| IL23A:IL-23(2) | 2 | 9.9 | Biologically related but no mutation | ||
| ABCB1:MDR1(2) | 2 | 0 | Genetic variant in a related disease | ||
| ATP7B | 2 | 1.6 | Unrelated | ||
| POMC | 2 | 0 | Unrelated | ||
| CHD7 | 2 | 9.9 | Unrelated | ||
| ST6GALNAC1:StyI(2) | 2 | 4.2 | Unrelated | ||
| B2M:beta(2)-microglobulin(1) | 2 | 0 | Unrelated | ||
| MEPE | 2 | 3.7 | Unrelated | ||
| FAM20C | 2 | 4.4 | Unrelated | ||
| PTGS2 | 2 | 0 | Unrelated | ||
| PTH1R | 2 | 1.9 | Genetic variant in a related disease | ||
| RARA:RAR(2) | 2 | 0.5 | Biologically related but no mutation | ||
| RARB | 2 | 1.2 | Genetic variant in a related disease | ||
| BCL2:bcl-2(3) | 2 | 0 | Biologically related but no mutation | ||
| RET | 2 | 9.9 | Unrelated | ||
| SHMT1:SHMT(2) | 2 | 3 | Biologically related but no mutation | ||
| SRD5A2 | 2 | 2.5 | Genetic variant in a related disease | ||
| BRCA1 | 2 | 0 | Unrelated | ||
| SSTR4 | 2 | 3.7 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| SULT2A1 | 2 | 0.9 | Other evidence of a functional genetic variant | GWAS/rs within gen | 29343609 Further analysis revealed a significant association between a common SNV within intron-1 of SULT2A1 (rs296361; MAF = 15% in Whites) and liver cytosolic SULT2A1 content as well as 25OHD3-3-O-sulfate formation rate, suggesting that variation in the SULT2A1 gene contributes importantly to inter-individual differences in vitamin D homeostasis. |
| TBX1:TGA(2) | 2 | 0.5 | Annotation error | TGA: stop codon, no the gene | |
| BTF3P11:OPG(2) | 2 | 1.7 | Unrelated | ||
| TLR2:TLR-2(2) | 2 | 0 | Genetic variant in a related disease | ||
| TMPRSS2 | 2 | 1.7 | Unrelated | ||
| UPP1 | 2 | 4.5 | Genetic variant in a related disease | ||
| WT1 | 2 | 0.3 | Genetic variant in a related disease | ||
| CALB1 | 2 | 1.7 | Genetic variant in a related disease | ||
| ANKRD55 | 2 | 6.2 | Unrelated | ||
| PNPLA3 | 2 | 2.1 | Genetic variant in a related disease | ||
| AAAS | 2 | 3.6 | Unrelated | ||
| APOL1 | 2 | 2.4 | Unrelated | ||
| CAV1 | 2 | 0.1 | Unrelated | ||
| RUNX2 | 2 | 0.1 | Biologically related but no mutation | ||
| STX16 | 2 | 4.2 | Biologically related but no mutation | ||
| SQSTM1 | 2 | 1.2 | Unrelated | ||
| CD28 | 2 | 9.9 | Biologically related but no mutation | ||
| NCOR1:N-CoR(2) | 2 | 1.8 | Unrelated | ||
| NCOR2 | 2 | 2.1 | Biologically related but no mutation | ||
| NR1I3 | 2 | 1.5 | Unrelated | ||
| CDH1 | 2 | 0 | Biologically related but no mutation | ||
| NAT2 | 1 | 0 | Unrelated | ||
| C20orf181:insulin growth factor-1, tissue plasminogen activator(1) | 1 | 0 | Biologically related but no mutation | ||
| TRAP | 1 | 0 | Unrelated | ||
| MAMLD1:F-18(1) | 1 | 0 | Unrelated | ||
| SNHG16 | 1 | 0 | Unrelated | ||
| ABCB6:ABC(1) | 1 | 0 | Annotation error | ||
| CDKN2B | 1 | 0 | Biologically related but no mutation | ||
| TUBB3 | 1 | 0 | Negative evidence | ||
| GNB2L1:RACK1(1) | 1 | 0 | Negative evidence | ||
| LYPLA1:i(2) | 1 | 0 | Annotation error | ||
| SLC9A6 | 1 | 0 | Unrelated | ||
| CARM1:CARM-1(1) | 1 | 0 | Negative evidence | ||
| CEBPA:C/EBP(1) | 1 | 0 | Unrelated | ||
| MYBBP1A:p160(2) | 1 | 0 | Unrelated | ||
| NEBL | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs within gen | 27579147 rs10828183 |
| BATF | 1 | 0 | Unrelated | ||
| AGPAT2 | 1 | 0 | Genetic variant in a related disease | ||
| IFI44:p44(1) | 1 | 0 | Unrelated | ||
| SLC34A2 | 1 | 0 | Unrelated | ||
| EBP | 1 | 0 | Unrelated | ||
| HCP5:P5; -1,85 SD(1) | 1 | 0 | Annotation error | ||
| RAB32 | 1 | 0 | Unrelated | ||
| IMMT:HMP(1) | 1 | 0 | Annotation error | HMP: homozygous for the major polymorphisms | |
| IL24:IL-24(1) | 1 | 0 | Unrelated | ||
| CHGA:CGA(1) | 1 | 0 | Annotation error | CGA stop codon not gene | |
| BAZ1A | 1 | 0 | Genetic variant in a related disease | ||
| PKP3 | 1 | 0 | Genetic variant in a related disease | ||
| IL17F:IL-17F(2) | 1 | 0 | Unrelated | ||
| CHRM3:Pb-S(1) | 1 | 0 | Annotation error | Pb: lead no the gene | |
| SLC46A1:PCFT(1) | 1 | 0 | Unrelated | ||
| NLRP3 | 1 | 0 | Unrelated | ||
| TIRAP | 1 | 0 | Biologically related but no mutation | ||
| PGLYRP2:Tagl(1) | 1 | 0 | Unrelated | ||
| MOGAT1:DC2(1) | 1 | 0 | Annotation error | CD2: dendritic cells not the gene | |
| TAGAP | 1 | 0 | Biologically related but no mutation | ||
| AP2S1 | 1 | 0 | Genetic variant in a related disease | ||
| CLCN5 | 1 | 0 | Unrelated | ||
| SLC24A4 | 1 | 0 | Negative evidence | ||
| ABCC2 | 1 | 0 | Biologically related but no mutation | ||
| FAM210A | 1 | 0 | Genetic variant in a related disease | ||
| CNR1 | 1 | 0 | Negative evidence | ||
| PROKR2 | 1 | 0 | Unrelated | ||
| COMT | 1 | 0 | Unrelated | ||
| IL31RA | 1 | 0 | Unrelated | ||
| CLDN4 | 1 | 0 | Unrelated | ||
| CLDN3 | 1 | 0 | Unrelated | ||
| CREBBP:CBP(1) | 1 | 0 | Biologically related but no mutation | ||
| CRIP2:CRP2(1) | 1 | 0 | Negative evidence | ||
| CHODL | 1 | 0 | Unrelated | ||
| PARP1:poly(ADP ribose) polymerase-1, haeme oxygenase-1(1) | 1 | 0 | Biologically related but no mutation | ||
| SESN3 | 1 | 0 | Biologically related but no mutation | ||
| CTNS:cystinosin(1) | 1 | 0 | Unrelated | ||
| CTSB:cathepsin B(1) | 1 | 0 | Biologically related but no mutation | ||
| CTSD:cathepsin D(2) | 1 | 0 | Unrelated | ||
| CYP1A1 | 1 | 0 | Genetic variant in a related disease | ||
| CYP1B1 | 1 | 0 | Genetic variant in a related disease | (Undefined) | |
| ADRB3:beta 3 adrenergic receptor(1) | 1 | 0 | Unrelated | ||
| CYP2C8 | 1 | 0 | Unrelated | ||
| CYP2C9 | 1 | 0 | Genetic variant in a related disease | ||
| CYP2D6 | 1 | 0 | Genetic variant in a related disease | ||
| CYP11A1 | 1 | 0 | Biologically related but no mutation | ||
| DAB1 | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs within gen | 26704534 rs6680429 |
| DBH | 1 | 0 | Unrelated | ||
| DCT:dopachrome tautomerase(1) | 1 | 0 | Negative evidence | ||
| HFM1:helicase(1) | 1 | 0 | Unrelated | ||
| DDB2 | 1 | 0 | Genetic variant in a related disease | ||
| DDC:L-amino acid decarboxylase(1) | 1 | 0 | Unrelated | ||
| DEFB4A:defensin beta2(2) | 1 | 0 | Biologically related but no mutation | ||
| DHFR | 1 | 0 | Biologically related but no mutation | ||
| DIO2 | 1 | 0 | Unrelated | ||
| DIO3:D(3)(1) | 1 | 0 | Annotation error | ||
| DSC3:dsc-4(1) | 1 | 0 | Unrelated | ||
| DSPP | 1 | 0 | Unrelated | ||
| AGTR1 | 1 | 0 | Unrelated | ||
| EDN3 | 1 | 0 | Negative evidence | ||
| EDNRB | 1 | 0 | Negative evidence | ||
| EGR1:Egr-1(1) | 1 | 0 | Unrelated | ||
| ANO6 | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| ARID2 | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| CRYGEP:G0, G1, or G2(1) | 1 | 0 | Unrelated | ||
| ENG:endoglin(2) | 1 | 0 | Unrelated | ||
| ENO2:NSE(1) | 1 | 0 | Unrelated | ||
| ENPEP:Apa(1) | 1 | 0 | Unrelated | ||
| ERCC2 | 1 | 0 | Genetic variant in a related disease | ||
| AKT1:AKT(1) | 1 | 0 | Unrelated | ||
| ESR2:estrogen receptor beta(2) | 1 | 0 | Biologically related but no mutation | ||
| ETS1:Ets-1(2) | 1 | 0 | Unrelated | ||
| ETS2 | 1 | 0 | Genetic variant in a related disease | ||
| ETV1:ETS variant 1(1) | 1 | 0 | Biologically related but no mutation | ||
| ALB | 1 | 0 | Biologically related but no mutation | ||
| EXT1 | 1 | 0 | Genetic variant in a related disease | ||
| EXT2 | 1 | 0 | Genetic variant in a related disease | ||
| FABP2 | 1 | 0 | Unrelated | ||
| TPCN2 | 1 | 0 | Negative evidence | ||
| FBN1 | 1 | 0 | Genetic variant in a related disease | ||
| FCER1A | 1 | 0 | Genetic variant in a related disease | ||
| FCER1G | 1 | 0 | Genetic variant in a related disease | ||
| FCGR2A:FC gamma receptor IIA(1) | 1 | 0 | Unrelated | ||
| FCGR3A:CD16(1) | 1 | 0 | Unrelated | ||
| SCUBE3 | 1 | 0 | Genetic variant in a related disease | ||
| FDX1 | 1 | 0 | Biologically related but no mutation | ||
| FDXR:adrenodoxin reductase(1) | 1 | 0 | Unrelated | ||
| FECH:ferrochelatase(1) | 1 | 0 | Unrelated | ||
| FEN1:flap endonuclease 1(1) | 1 | 0 | Biologically related but no mutation | ||
| FGF2 | 1 | 0 | Negative evidence | ||
| FGF8 | 1 | 0 | Unrelated | ||
| FGFR1 | 1 | 0 | Unrelated | ||
| FGFR3 | 1 | 0 | Genetic variant in a related disease | ||
| ZNF365 | 1 | 0 | Unrelated | ||
| SNW1:SKIIP(1) | 1 | 0 | Biologically related but no mutation | ||
| FOXO1 | 1 | 0 | Biologically related but no mutation | ||
| FOXO3:FoxO3a(1) | 1 | 0 | Biologically related but no mutation | ||
| PLCB1 | 1 | 0 | Genetic variant in a related disease | ||
| CLEC16A | 1 | 0 | Unrelated | ||
| SIRT3 | 1 | 0 | Unrelated | ||
| FOLR1:folate receptor alpha(1) | 1 | 0 | Unrelated | ||
| CLEC5A | 1 | 0 | Unrelated | ||
| ALOX5:5-lipoxygenase(2) | 1 | 0 | Biologically related but no mutation | ||
| ALPI | 1 | 0 | Biologically related but no mutation | ||
| GAST:gastrin(1) | 1 | 0 | Unrelated | ||
| FUT2 | 1 | 0 | Unrelated | ||
| ST6GALNAC3 | 1 | 0 | Biologically related but no mutation | ||
| GALT | 1 | 0 | Unrelated | ||
| ASPM | 1 | 0 | Unrelated | ||
| NSMF:NELF(1) | 1 | 0 | Unrelated | ||
| ABCA12 | 1 | 0 | Unrelated | ||
| PTPN22 | 1 | 0 | Unrelated | ||
| GATA1:GATA-1(1) | 1 | 0 | Unrelated | ||
| BLOC1S6:PLDN(1) | 1 | 0 | Negative evidence | ||
| ERAL1:era(2) | 1 | 0 | Annotation error | ||
| BSCL2:seipin(1) | 1 | 0 | Unrelated | ||
| GFAP | 1 | 0 | Unrelated | ||
| GGCX | 1 | 0 | Unrelated | ||
| GHSR | 1 | 0 | Unrelated | ||
| ATP2C1 | 1 | 0 | Unrelated | ||
| DIEXF:DEF(1) | 1 | 0 | Annotation error | ||
| RSPH14:RTDR1(1) | 1 | 0 | Unrelated | ||
| GLB1:beta-galactosidase(1) | 1 | 0 | Biologically related but no mutation | ||
| SULT1C4 | 1 | 0 | Unrelated | ||
| SESN1 | 1 | 0 | Biologically related but no mutation | ||
| SULT1B1 | 1 | 0 | Unrelated | ||
| TOX3 | 1 | 0 | Unrelated | ||
| GNA11 | 1 | 0 | Unrelated | ||
| GNRH1 | 1 | 0 | Unrelated | ||
| GNRHR | 1 | 0 | Unrelated | ||
| ABO | 1 | 0 | Unrelated | ||
| GPR3:ACCA(1) | 1 | 0 | Annotation error | haplotypes ACCA, not gene | |
| LINC00346 | 1 | 0 | Genetic variant in a related disease | ||
| IGHV3-69-1:immunoglobulin heavy chain variable (IGHV)(1) | 1 | 0 | Genetic variant in a related disease | ||
| KIF4B | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| ANK3 | 1 | 0 | Unrelated | ||
| GRB10 | 1 | 0 | Genetic variant in a related disease | ||
| IGKV1D-8:L2-4(1) | 1 | 0 | Annotation error | vertebrae L2-4 not gene | |
| PDIA3 | 1 | 0 | Biologically related but no mutation | ||
| GSTM2:GSTM(1) | 1 | 0 | Unrelated | ||
| GZMA:granzyme A(2) | 1 | 0 | Biologically related but no mutation | ||
| HADHA:Long-chain 3-hydroxyacyl-CoA dehydrogenase(1) | 1 | 0 | Unrelated | ||
| HGF | 1 | 0 | Annotation error | HGF: Human gingival fibroblasts, not the gen | |
| CD209 | 1 | 0 | Unrelated | ||
| HLA-A | 1 | 0 | Unrelated | ||
| HMOX1 | 1 | 0 | Unrelated | ||
| NR4A1:hormone receptor(1) | 1 | 0 | Unrelated | ||
| FOXA2 | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| HNF4A:TCF(1) | 1 | 0 | Biologically related but no mutation | ||
| APC | 1 | 0 | Biologically related but no mutation | ||
| HP:haptoglobin(1) | 1 | 0 | Biologically related but no mutation | ||
| AIRE | 1 | 0 | Unrelated | ||
| HSD17B4:17beta-HSD IV(1) | 1 | 0 | Unrelated | ||
| HSPA4:hsp-70(1) | 1 | 0 | Biologically related but no mutation | ||
| APOA1:Apolipoprotein A-I(1) | 1 | 0 | Unrelated | ||
| HTR2A | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| APOA4:apolipoprotein A-IV(1) | 1 | 0 | Unrelated | ||
| CHSY3:N-acetyl galactosaminyl transferase 3(1) | 1 | 0 | Unrelated | ||
| APOB:apolipoprotein B(1) | 1 | 0 | Unrelated | ||
| ANO9:TMEM16J(2) | 1 | 0 | Genetic variant in a related disease | ||
| ID1 | 1 | 0 | Biologically related but no mutation | ||
| NACA2:ANAC(1) | 1 | 0 | Annotation error | ANAC: cardiac autonomic nervous not the gene | |
| CFI | 1 | 0 | Genetic variant in a related disease | ||
| IGFBP1:IGFBP-1(1) | 1 | 0 | Unrelated | ||
| APP | 1 | 0 | Biologically related but no mutation | ||
| IL1A | 1 | 0 | Unrelated | ||
| IL1B:interleukin-1beta(1) | 1 | 0 | Unrelated | ||
| IL1RN | 1 | 0 | Unrelated | ||
| IL5:IL-5(1) | 1 | 0 | Biologically related but no mutation | ||
| IL6ST | 1 | 0 | Unrelated | ||
| IL7R:IL7RA(1) | 1 | 0 | Unrelated | ||
| IL12A | 1 | 0 | Unrelated | ||
| IL18 | 1 | 0 | Unrelated | ||
| CXCL10:IP-10(1) | 1 | 0 | Unrelated | ||
| INSL3:INSL-3(1) | 1 | 0 | Unrelated | ||
| INSM1:IA1(2) | 1 | 0 | Annotation error | IA1: Collagen type not the gene | |
| IRF1 | 1 | 0 | Unrelated | ||
| ITGA4:CD49d(1) | 1 | 0 | Biologically related but no mutation | ||
| ABCC6 | 1 | 0 | Unrelated | ||
| ITGB2 | 1 | 0 | Unrelated | ||
| IVL | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| JUN:activation protein-1(1) | 1 | 0 | Unrelated | ||
| KAL1 | 1 | 0 | Unrelated | ||
| NDUFS7:confidence interval (CI) 20(1) | 1 | 0 | Annotation error | CI: Confidence interval not gene | |
| KCNJ1 | 1 | 0 | Genetic variant in a related disease | ||
| MALAT1 | 1 | 0 | Genetic variant in a related disease | ||
| KISS1 | 1 | 0 | Unrelated | ||
| KIT | 1 | 0 | Negative evidence | ||
| KRT17:CK17(1) | 1 | 0 | Unrelated | ||
| KRT19:CK19(1) | 1 | 0 | Unrelated | ||
| LBP | 1 | 0 | Genetic variant in a related disease | ||
| LEP:Leptin(2) | 1 | 0 | Unrelated | ||
| LEPR | 1 | 0 | Unrelated | ||
| LGALS3:galectin 3(1) | 1 | 0 | Unrelated | ||
| LGALS4:Gal4(1) | 1 | 0 | Unrelated | ||
| LINC00511 | 1 | 0 | Genetic variant in a related disease | ||
| LPL:lipoprotein lipase(1) | 1 | 0 | Unrelated | ||
| CIMT | 1 | 0 | Annotation error | CIMT not gene (surrogate marker of coronary artery disease) | |
| MIRLET7B:let-7b(1) | 1 | 0 | Biologically related but no mutation | ||
| LYZ | 1 | 0 | Unrelated | ||
| HPC3:HPC20(1) | 1 | 0 | Unrelated | ||
| MXD1 | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| MARK3 | 1 | 0 | Unrelated | ||
| MATN3 | 1 | 0 | Genetic variant in a related disease | ||
| MBL2 | 1 | 0 | Unrelated | ||
| MBP | 1 | 0 | Unrelated | ||
| MC4R | 1 | 0 | Unrelated | ||
| MCM6 | 1 | 0 | Negative evidence | ||
| MDM2 | 1 | 0 | Biologically related but no mutation | ||
| MECP2 | 1 | 0 | Unrelated | ||
| MAP3K5 | 1 | 0 | Biologically related but no mutation | ||
| MEP1A | 1 | 0 | Unrelated | ||
| MGAT3 | 1 | 0 | Negative evidence | ||
| CXCL9:MIG(1) | 1 | 0 | Unrelated | ||
| ACHE | 1 | 0 | Biologically related but no mutation | ||
| FOXO4 | 1 | 0 | Biologically related but no mutation | ||
| MMP2:matrix metalloproteinase 2(1) | 1 | 0 | Unrelated | ||
| ASIP | 1 | 0 | Negative evidence | ||
| MS:MULTIPLE SCLEROSIS(1) | 1 | 0 | Annotation error | MS: disease not gene | |
| MSX2:MSH(1) | 1 | 0 | Unrelated | ||
| MYO5A | 1 | 0 | Negative evidence | ||
| ATF1:[ATF1(1) | 1 | 0 | Negative evidence | ||
| NCAM1:CD56(1) | 1 | 0 | Unrelated | ||
| NDUFB3:B12(1) | 1 | 0 | Annotation error | Vitamin B12 not the gene | |
| NFE2L2:Nrf2(1) | 1 | 0 | Unrelated | ||
| NFKBIA | 1 | 0 | Negative evidence | ||
| NOS2:inducible nitric oxide synthase(1) | 1 | 0 | Biologically related but no mutation | ||
| NPAS2 | 1 | 0 | Unrelated | ||
| NPHS1:nephrin(1) | 1 | 0 | Unrelated | ||
| ATP2A2 | 1 | 0 | Unrelated | ||
| NPR1:natriuretic peptide receptor-A(1) | 1 | 0 | Biologically related but no mutation | ||
| NRAS | 1 | 0 | Genetic variant in a related disease | ||
| ATP2B1:PMCA1(1) | 1 | 0 | Biologically related but no mutation | ||
| NT5E | 1 | 0 | Unrelated | ||
| OGG1:8-oxoguanine DNA glycosylase(1) | 1 | 0 | Biologically related but no mutation | ||
| ORM1:AGP-A(1) | 1 | 0 | Biologically related but no mutation | ||
| FURIN | 1 | 0 | Unrelated | ||
| SERPINE1:PAI-1(2) | 1 | 0 | Unrelated | ||
| IL22:IL-22(1) | 1 | 0 | Biologically related but no mutation | ||
| PARK2 | 1 | 0 | Unrelated | ||
| PAX3 | 1 | 0 | Negative evidence | ||
| PAX5:BSAP(1) | 1 | 0 | Unrelated | ||
| SOST | 1 | 0 | Genetic variant in a related disease | ||
| MLXIPL:carbohydrate response element-binding protein(1) | 1 | 0 | Unrelated | ||
| ABHD5 | 1 | 0 | Unrelated | ||
| SBDS | 1 | 0 | Unrelated | ||
| PHF11:PHF-11(1) | 1 | 0 | Genetic variant in a related disease | ||
| INSIG2 | 1 | 0 | Unrelated | ||
| SLC45A2 | 1 | 0 | Negative evidence | ||
| KLF3:klf-3(2) | 1 | 0 | Biologically related but no mutation | ||
| WNT16 | 1 | 0 | Genetic variant in a related disease | ||
| PEX5L:pxr*2(1) | 1 | 0 | Unrelated | ||
| ERAP1:ALAP(1) | 1 | 0 | Unrelated | ||
| PER1 | 1 | 0 | Unrelated | ||
| PF4 | 1 | 0 | Unrelated | ||
| PGR:progesterone receptor(1) | 1 | 0 | Unrelated | ||
| PIM1:Pim-1(1) | 1 | 0 | Unrelated | ||
| TPCN1:TPC1(1) | 1 | 0 | Unrelated | ||
| BCO1:beta-carotene 15,15'-monooxygenase 1(1) | 1 | 0 | Unrelated | ||
| ATP7A | 1 | 0 | Negative evidence | ||
| ACP5:TRACP5b(1) | 1 | 0 | Unrelated | ||
| CYCS:cytochrome C(1) | 1 | 0 | Biologically related but no mutation | ||
| TREM1 | 1 | 0 | Unrelated | ||
| WNT4 | 1 | 0 | Biologically related but no mutation | ||
| PON1 | 1 | 0 | Genetic variant in a related disease | ||
| POR:NADPH-cytochrome P450 oxidoreductase(2) | 1 | 0 | Unrelated | ||
| POU1F1:Pit-1(2) | 1 | 0 | Unrelated | ||
| UGT1A4 | 1 | 0 | Biologically related but no mutation | ||
| UGT1A3 | 1 | 0 | Biologically related but no mutation | ||
| PPARD | 1 | 0 | Genetic variant in a related disease | ||
| PPARG | 1 | 0 | Genetic variant in a related disease | ||
| FAM20A | 1 | 0 | Unrelated | ||
| TRPM7 | 1 | 0 | Unrelated | ||
| PPP1CC:PP1G(1) | 1 | 0 | Unrelated | ||
| ATG16L1 | 1 | 0 | Unrelated | ||
| FEZF2:MALDI-TOF(1) | 1 | 0 | Annotation error | MALDI-TOF: matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, not gene | |
| QRSL1:GATA(1) | 1 | 0 | Genetic variant in a related disease | ||
| PPP3R1 | 1 | 0 | Genetic variant in a related disease | ||
| SLC30A10 | 1 | 0 | Biologically related but no mutation | ||
| PRKACB | 1 | 0 | Negative evidence | ||
| PRKACG | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| PRKAR1A | 1 | 0 | Negative evidence | ||
| CDK5RAP2:c48(1) | 1 | 0 | Annotation error | ||
| PRKAR2A | 1 | 0 | Negative evidence | ||
| PRKAR2B | 1 | 0 | Negative evidence | ||
| EXOC2 | 1 | 0 | Negative evidence | ||
| PRKCB | 1 | 0 | Genetic variant in a related disease | ||
| PRKCH | 1 | 0 | Genetic variant in a related disease | ||
| PRKDC:DNA-PK(1) | 1 | 0 | Biologically related but no mutation | ||
| MAPK1:ERK(1) | 1 | 0 | Unrelated | ||
| MAPK3:extracellular signal-regulated kinase 2(1) | 1 | 0 | Biologically related but no mutation | ||
| MAP2K7:MEK(1) | 1 | 0 | Unrelated | ||
| ANKH | 1 | 0 | Unrelated | ||
| CRTAM | 1 | 0 | Genetic variant in a related disease | ||
| TRPV5 | 1 | 0 | Unrelated | ||
| HTRA1 | 1 | 0 | Unrelated | ||
| BAAT:bAt(2) | 1 | 0 | Genetic variant in a related disease | ||
| PTEN | 1 | 0 | Biologically related but no mutation | ||
| PTGER1:EP1(1) | 1 | 0 | Biologically related but no mutation | ||
| PTGER2:EP2(1) | 1 | 0 | Biologically related but no mutation | ||
| PTGER3:EP3(1) | 1 | 0 | Unrelated | ||
| PTGER4:EP4(1) | 1 | 0 | Biologically related but no mutation | ||
| MIB1:MIB-1(1) | 1 | 0 | Unrelated | ||
| PEX5:Pxr*1(1) | 1 | 0 | Unrelated | ||
| RAB27A | 1 | 0 | Negative evidence | ||
| RAD51 | 1 | 0 | Unrelated | ||
| BCHE:butyrylcholinesterase(1) | 1 | 0 | Biologically related but no mutation | ||
| SIGIRR | 1 | 0 | Genetic variant in a related disease | ||
| RCN2 | 1 | 0 | Unrelated | ||
| ACTB | 1 | 0 | Unrelated | ||
| PROK2 | 1 | 0 | Unrelated | ||
| RORA:RORalpha(2) | 1 | 0 | Unrelated | ||
| S100A6:calcyclin(1) | 1 | 0 | Unrelated | ||
| S100P | 1 | 0 | Unrelated | ||
| SCN9A | 1 | 0 | Unrelated | ||
| CCL20:chemokine ligand (CCL)-20(1) | 1 | 0 | Unrelated | ||
| CXCL5 | 1 | 0 | Unrelated | ||
| BLOC1S5 | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs within gen | rs9328451 |
| SELP:P-selectin(1) | 1 | 0 | Unrelated | ||
| SNHG6 | 1 | 0 | Genetic variant in a related disease | ||
| SFRP4:sFRP-4(1) | 1 | 0 | Unrelated | ||
| SRSF1 | 1 | 0 | Unrelated | ||
| SRSF2:SC-35(1) | 1 | 0 | Unrelated | ||
| SFTPB:Surfactant protein B(1) | 1 | 0 | Unrelated | ||
| H3F3AP6:p21(1) | 1 | 0 | Unrelated | ||
| FNDC3B | 1 | 0 | Genetic variant in a related disease | ||
| CYP3A43 | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs within gen | dbSNP ID rs680055 (Ala340Pro) |
| PMEL | 1 | 0 | Negative evidence | ||
| BMP2 | 1 | 0 | Unrelated | ||
| SLC2A2:Glut 2(1) | 1 | 0 | Genetic variant in a related disease | ||
| BMP4:Bone Morphogenetic Protein-4(1) | 1 | 0 | Unrelated | ||
| SLC5A1:SGLT1(1) | 1 | 0 | Genetic variant in a related disease | ||
| ZSWIM4 | 1 | 0 | Biologically related but no mutation | ||
| SLC6A4:Serotonin Transporter(1) | 1 | 0 | Genetic variant in a related disease | ||
| GGTLC5P:gGT(1) | 1 | 0 | Unrelated | ||
| SLC10A1 | 1 | 0 | Unrelated | ||
| SLC12A3 | 1 | 0 | Unrelated | ||
| SLC19A1:RFC(2) | 1 | 0 | Unrelated | ||
| SLCO1A2 | 1 | 0 | Biologically related but no mutation | ||
| SMPD1:acid-sphingomyelinase(1) | 1 | 0 | Biologically related but no mutation | ||
| SMPD2:neutral sphingomyelinase(1) | 1 | 0 | Biologically related but no mutation | ||
| SNAI1:Snail1(2) | 1 | 0 | Biologically related but no mutation | ||
| SOD1 | 1 | 0 | Unrelated | ||
| SOD2 | 1 | 0 | Unrelated | ||
| SOX10 | 1 | 0 | Negative evidence | ||
| SRC:SRC-1(1) | 1 | 0 | Unrelated | ||
| BRCA2 | 1 | 0 | Unrelated | ||
| STAT1 | 1 | 0 | Unrelated | ||
| STC1 | 1 | 0 | Unrelated | ||
| SULT1E1 | 1 | 0 | Unrelated | ||
| SULT1A1 | 1 | 0 | Unrelated | ||
| SULT2B1 | 1 | 0 | Unrelated | ||
| TAC3 | 1 | 0 | Unrelated | ||
| KLF9 | 1 | 0 | Unrelated | ||
| TACR3 | 1 | 0 | Unrelated | ||
| TAF7:TAF(II)55(2) | 1 | 0 | Biologically related but no mutation | ||
| TCF4:TCF-4(2) | 1 | 0 | Biologically related but no mutation | ||
| HNF1B | 1 | 0 | Unrelated | ||
| TCF7L2 | 1 | 0 | Unrelated | ||
| TRA:TRalpha(1) | 1 | 0 | Biologically related but no mutation | ||
| TRB:TR beta(1) | 1 | 0 | Unrelated | ||
| TFAP2A:AP-2(1) | 1 | 0 | Unrelated | ||
| TGM1:transglutaminase-1(1) | 1 | 0 | Unrelated | ||
| THRA | 1 | 0 | Unrelated | ||
| THRB | 1 | 0 | Unrelated | ||
| THRSP:S14(1) | 1 | 0 | Unrelated | ||
| TLR1 | 1 | 0 | Biologically related but no mutation | ||
| TLR4 | 1 | 0 | Unrelated | ||
| CCT3:CCTG(1) | 1 | 0 | Unrelated | CCTG: not the gene | |
| TRPM2:TRPM-2(1) | 1 | 0 | Biologically related but no mutation | ||
| TSHB:TSH beta(1) | 1 | 0 | Unrelated | ||
| TSHR:thyrotropin receptor(1) | 1 | 0 | Unrelated | ||
| C5AR1:C5a(1) | 1 | 0 | Unrelated | ||
| CCR2 | 1 | 0 | Unrelated | ||
| TXN:thioredoxin(1) | 1 | 0 | Unrelated | ||
| UCP1 | 1 | 0 | Unrelated | ||
| UGT2B17 | 1 | 0 | Unrelated | ||
| VDAC3:voltage-dependent anion-selective channel protein 3(1) | 1 | 0 | Unrelated | ||
| VEGFA:VEGF(1) | 1 | 0 | Genetic variant in a related disease | ||
| VTN:vitronectin(1) | 1 | 0 | Unrelated | ||
| ZAP70:ZAP-70(1) | 1 | 0 | Biologically related but no mutation | ||
| CACNA1C | 1 | 0 | Genetic variant in a related disease | ||
| CACNA1E | 1 | 0 | Biologically related but no mutation | ||
| SLC30A2 | 1 | 0 | Unrelated | ||
| NPHS2:podocin(1) | 1 | 0 | Unrelated | ||
| PAX8 | 1 | 0 | Unrelated | ||
| VKORC1:Vitamin K Epoxide Reductase(1) | 1 | 0 | Genetic variant in a related disease | ||
| MLPH | 1 | 0 | Other evidence of a functional genetic variant | GWAS/rs in intergenic regions or haplotypes | |
| GNPTAB | 1 | 0 | Unrelated | ||
| S100G:calbindin-D9k(1) | 1 | 0 | Biologically related but no mutation | ||
| CDC73:HRPT2(1) | 1 | 0 | Unrelated | ||
| CALCA:Calcitonin(1) | 1 | 0 | Biologically related but no mutation | ||
| HDAC11:HD-11(1) | 1 | 0 | Annotation error | HD-11: cell line | |
| ADAM12 | 1 | 0 | Unrelated | ||
| QTRT1:TGT(1) | 1 | 0 | Genetic variant in a related disease | ||
| CAMP:LL-37(2) | 1 | 0 | Biologically related but no mutation | ||
| NCOA3 | 1 | 0 | Genetic variant in a related disease | ||
| SESN2 | 1 | 0 | Biologically related but no mutation | ||
| DTNBP1 | 1 | 0 | Negative evidence | ||
| CASP8:caspase 8(1) | 1 | 0 | Biologically related but no mutation | ||
| DHX16:DBP-2(1) | 1 | 0 | Annotation error | DBP: Vitamin D binding protein not the gene | |
| ZNF469 | 1 | 0 | Unrelated | ||
| CILP | 1 | 0 | Unrelated | ||
| ENC1:ectodermal-neural cortex-1(1) | 1 | 0 | Biologically related but no mutation | ||
| KRT88P:HBc(1) | 1 | 0 | Annotation error | anti-HBc not gene | |
| ABCB11 | 1 | 0 | Unrelated | ||
| SERPINA6:Transcortin(1) | 1 | 0 | Unrelated | ||
| TNFRSF25:DR3(1) | 1 | 0 | Biologically related but no mutation | ||
| TNFRSF11A | 1 | 0 | Unrelated | ||
| TRIM24:TIF1alpha(2) | 1 | 0 | Biologically related but no mutation | ||
| CCAL1:CPDD(1) | 1 | 0 | Annotation error | CPDD: calcium pyrophosphate deposition disease, not the gene | |
| WISP1 | 1 | 0 | Biologically related but no mutation | ||
| HDAC3 | 1 | 0 | Biologically related but no mutation | ||
| HERC2 | 1 | 0 | Biologically related but no mutation | ||
| HAP1 | 1 | 0 | Unrelated | ||
| IL33:IL-33(1) | 1 | 0 | Unrelated | ||
| IL1RL1 | 1 | 0 | Biologically related but no mutation | ||
| GCM2 | 1 | 0 | Unrelated | ||
| CD14 | 1 | 0 | Biologically related but no mutation | ||
| CD19 | 1 | 0 | Unrelated | ||
| HS6ST1 | 1 | 0 | Unrelated | ||
| RECQL4 | 1 | 0 | Unrelated | ||
| CD86 | 1 | 0 | Unrelated | ||
| ABCG2 | 1 | 0 | Unrelated | ||
| CD34 | 1 | 0 | Unrelated | ||
| THEMIS2:icb-1(2) | 1 | 0 | Unrelated | ||
| CD36 | 1 | 0 | Unrelated | ||
| SLC4A7 | 1 | 0 | Unrelated | ||
| CD38 | 1 | 0 | Biologically related but no mutation | ||
| CHD1L:cHDL(1) | 1 | 0 | Annotation error | cHDL: cholesterol HDL, not the gene | |
| BCAR1:CAS(2) | 1 | 0 | Unrelated | ||
| HPCX | 1 | 0 | Unrelated | ||
| PRDX6:peroxiredoxin-6(1) | 1 | 0 | Unrelated | ||
| CD44 | 1 | 0 | Biologically related but no mutation | ||
| CD53:cell-surface antigen(1) | 1 | 0 | Unrelated | ||
| CD59:min-1(1) | 1 | 0 | Unrelated | ||
| CD81 | 1 | 0 | Biologically related but no mutation | ||
| CDC6 | 1 | 0 | Biologically related but no mutation | ||
| KIAA0020:PUFA(1) | 1 | 0 | Annotation error | PUFA:Polyunsaturated fatty acids, not the gene | |
| FGF19 | 1 | 0 | Unrelated | ||
| MED12 | 1 | 0 | Genetic variant in a related disease |
The data shown here is supplementary for the research publication Identification and analysis of 35 genes associated with vitamin D deficiency: A systematic review to identify genetic variants. Maricruz Sepulveda-Villegas, Leticia Elizondo-Montemayor, Victor Trevino. PMID:31678109.
Abstract
Vitamin D deficiency is a public health concern associated with, but not limited to, skeletal anomalies, chronic diseases, immune conditions, and cancer, among others. Hypovitaminosis D is mainly associated with en- vironmental and lifestyle factors that affect sunlight exposure. However, genetic factors also influence 25-hy- droxyvitamin D (25[OH]D) serum concentration. Although there is available information of genes with clear biological relevance or markers identified by Genome-Wide Association Studies, an overall view and screening tool to identify known genetic causes of altered serum levels of 25(OH)D is lacking. Moreover, there are no studies including the total genetic evidence associated with abnormal serum concentration of 25(OH)D. Therefore, we conducted a de-novo systematic literature review to propose a set of genes comprehensive of all genetic variants reported to be associated with deficiency of vitamin D. Abstracts retrieved from PubMed search were organized by gene and curated one-by-one using the PubTerm web tool. The genes identified were clas- sified according to the type of genetic evidence associated with serum 25(OH)D levels and were also compared with the few commonly screened genes related to vitamin D status. This strategy allowed the identification of 35 genes associated with serum 25(OH)D concentrations, 27 (75%) of which are not commercially available and are not, therefore, analyzed in clinical practice for genetic counseling, nor are they sufficiently studied for research purposes. Functional analysis of the genes identified confirmed their role in vitamin D pathways and diseases. Thus, the list of genes is an important source to understand the genetic determinants of 25(OH)D levels. To further support our findings, we provide a map of the reported functional variants and SNPs not included in ClinVar, minor allelic frequencies, SNP effect sizes, associated diseases, and an integrated overview of the biological role of the genes. In conclusion, we identified a comprehensive candidate list of genes associated with serum 25(OH)D concentrations, most of which are not commercially available, but would prove of importance in clinical practice in screening for patients that should respond to supplementation because of alterations in ab- sorption, patients that would have little benefit because alterations in the downstream metabolism of vitamin D, and to study non-responsiveness to supplementation with vitamin D.
Abstract
Vitamin D deficiency is a public health concern associated with, but not limited to, skeletal anomalies, chronic diseases, immune conditions, and cancer, among others. Hypovitaminosis D is mainly associated with en- vironmental and lifestyle factors that affect sunlight exposure. However, genetic factors also influence 25-hy- droxyvitamin D (25[OH]D) serum concentration. Although there is available information of genes with clear biological relevance or markers identified by Genome-Wide Association Studies, an overall view and screening tool to identify known genetic causes of altered serum levels of 25(OH)D is lacking. Moreover, there are no studies including the total genetic evidence associated with abnormal serum concentration of 25(OH)D. Therefore, we conducted a de-novo systematic literature review to propose a set of genes comprehensive of all genetic variants reported to be associated with deficiency of vitamin D. Abstracts retrieved from PubMed search were organized by gene and curated one-by-one using the PubTerm web tool. The genes identified were clas- sified according to the type of genetic evidence associated with serum 25(OH)D levels and were also compared with the few commonly screened genes related to vitamin D status. This strategy allowed the identification of 35 genes associated with serum 25(OH)D concentrations, 27 (75%) of which are not commercially available and are not, therefore, analyzed in clinical practice for genetic counseling, nor are they sufficiently studied for research purposes. Functional analysis of the genes identified confirmed their role in vitamin D pathways and diseases. Thus, the list of genes is an important source to understand the genetic determinants of 25(OH)D levels. To further support our findings, we provide a map of the reported functional variants and SNPs not included in ClinVar, minor allelic frequencies, SNP effect sizes, associated diseases, and an integrated overview of the biological role of the genes. In conclusion, we identified a comprehensive candidate list of genes associated with serum 25(OH)D concentrations, most of which are not commercially available, but would prove of importance in clinical practice in screening for patients that should respond to supplementation because of alterations in ab- sorption, patients that would have little benefit because alterations in the downstream metabolism of vitamin D, and to study non-responsiveness to supplementation with vitamin D.
