PedAM
Pediatric Disease Annotations & Medicines
| acdc | ||||
| Disease ID | 1899 |
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| Disease | acdc |
| Definition | This gene is involved in the metabolism of glucose and lipids. |
| Synonym | adipocyte-, c1q-, and collagen domain-containing adiponectin precursor adiponectin, c1q and collagen domain containing adiponectin, c1q and collagen domain containing gene adipoq adipoq gene adpn gbp28 |
| OMIM | |
| UMLS | C1540187 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1899 |
|---|---|
| Disease | acdc |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1899 |
|---|---|
| Disease | acdc |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:29) | |||||||||||||||||||||||||||||||||||||
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| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 3 | 186560782 | rs182052 | NM_001177800,ADIPOQ | NM_004797,ADIPOQ | ENST00000320741,ENSG00000181092 | ENST00000444204,ENSG00000181092 | ENST00000412955,ENSG00000181092 | TFP.FOXA1 | NA | NA | NA | LM139,2.1371 | LM148,1.3843 | NR2F1,2.6466 | RXRA-VDR,1.9212 | HNF4A,5.9467 | NA | NA | NA | NA | NA | NA | 0.002 | -0.120 | 0.586 | R1 | G | NA | NA | NA | 0.410 | 0.500 | 0.380 | 0.360 | 0.400 | Transcript | INTRONIC |
| 3 | 186566728 | rs822394 | NM_001177800,ADIPOQ | NM_004797,ADIPOQ | ENST00000320741,ENSG00000181092 | ENST00000444204,ENSG00000181092 | ENST00000412955,ENSG00000181092 | TFP.CTCF | NA | NA | NA | Crx_3485,28.5403 | Dmbx1_2277,38.2945 | Gat1-primary,4.5099 | Hoxa1_3425,22.3042 | Hoxa2_3079,28.469 | NA | NA | NA | NA | NA | NA | 0.000 | -0.734 | -3.23 | GE0 | C | NA | NA | NA | 0.880 | 0.900 | 0.860 | 0.990 | 0.810 | Intergenic | DOWNSTREAM |
| 3 | 186566877 | rs822396 | NM_001177800,ADIPOQ | NM_004797,ADIPOQ | ENST00000320741,ENSG00000181092 | ENST00000444204,ENSG00000181092 | ENST00000412955,ENSG00000181092 | TFP.CTCF | NA | NA | NA | Cha4-primary,1.7019 | Yer130c-primary,1.4587 | Sox4,4.3072 | LM5,1.3778 | LM54,3.6663 | NA | NA | NA | NA | NA | NA | 0.000 | -0.898 | -5.06 | R4 | A | NA | NA | NA | 0.840 | 0.900 | 0.830 | 0.800 | 0.810 | Intergenic | DOWNSTREAM |
| 3 | 186570453 | rs17366568 | NM_001177800,ADIPOQ | NM_004797,ADIPOQ | ENST00000320741,ENSG00000181092 | ENST00000444204,ENSG00000181092 | ENST00000412955,ENSG00000181092 | ENST00000422718,ENSG00000226482 | MCV-1 | NA | chr3,186570001,186580000,chr2,97490001,97500000,4,Hi-C | NA | Cphx_3484,3.0121 | Duxl_1286,2.2578 | Evx2_2645,2.0332 | Gsc_2327,1.4587 | Lhx4_1719,13.5198 | NA | NA | NA | NA | NA | NA | 0.027 | 2.193 | 3.41 | GE0 | G | NA | NA | NA | 0.050 | 0.020 | 0.030 | 0.010 | 0.110 | NonCodingTranscript |
| 3 | 186571196 | rs2241767 | NM_001177800,ADIPOQ | NM_004797,ADIPOQ | ENST00000320741,ENSG00000181092 | ENST00000444204,ENSG00000181092 | ENST00000412955,ENSG00000181092 | ENST00000422718,ENSG00000226482 | NA | NA | chr3,186570001,186580000,chr2,97490001,97500000,4,Hi-C | NA | Asg1-DBD-primary,2.0158 | Ceh-22,19.0112 | Hdx_3845,1.873 | Mig1-primary,1.8096 | Mig2-primary,1.5139 | NA | NA | NA | NA | NA | NA | 0.012 | 1.025 | 2.94 | TF1 | A | NA | NA | NA | NA | NA | NA | NA | NA | Transcript |
| 3 | 186573705 | rs6773957 | NM_001177800,ADIPOQ | NM_004797,ADIPOQ | ENST00000320741,ENSG00000181092 | ENST00000444204,ENSG00000181092 | ENST00000412955,ENSG00000181092 | ENST00000422718,ENSG00000226482 | NA | NA | chr3,186570001,186580000,chr2,97490001,97500000,4,Hi-C | NA | GATA-1,9.2801 | GATA-X,1.9711 | Gfi-1,1.4597 | Lmo2_complex,3.8795 | VDR,_CAR,_PXR,2.0892 | NA | NA | NA | NA | NA | NA | 0.000 | -0.869 | -5.07 | GM0 | A | NA | NA | NA | NA | NA | NA | NA | NA | NonCodingTranscript |
| 22 | 44322922 | rs2076213 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | NA | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM32,3.395 | LM37,3.7907 | LM82,3.3153 | LM99,1.5577 | LM186,4.165 | NA | NA | NA | PNPLA3,T,A,C,S,0,0.47,0.125409,0.132541 | PNPLA3,T,C,C,R,0,0.56,0.125409,0.07822 | PNPLA3,T,G,C,G,0,0.6,0.125409,0.189557 | NA | NA | 0.000 | -0.568 | -2.13 | TF0 | T | NA | NA | NA | NA | NA | NA | NA | NA |
| 22 | 44324104 | rs734561 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | MCV-4 | TFP.HNF4G | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM139,1.7146 | LM228,3.8866 | FOXF2,2.178 | Foxq1,2.0522 | SPIB,4.4582 | NA | NA | NA | NA | NA | NA | 0.000 | -1.746 | -6.33 | R1 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript |
| 22 | 44324727 | rs738409 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | TFP.HNF4G | TFP.HNF4A | TFP.RXRA | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM9,1.8862 | LM44,2.5573 | LM128,4.6117 | Pax5,1.8288 | CREB1,2.7478 | NA | NA | NA | PNPLA3,C,G,I,M,0.778,0.91,0.991804,0.576036 | NA | NM_025225,TypeII+,ATC->ATG,I->M,3.4 | 0.857 | -0.384 | -1.97 | R2 | C | NA | NA | NA | NA | NA | NA | NA | NA |
| 22 | 44324730 | rs738408 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | TFP.HNF4G | TFP.HNF4A | TFP.RXRA | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | Crx_3485,6.2159 | Dobox5_3493,1.2667 | Met32-primary,1.4555 | Nkx2-2_2823,1.7837 | Obox1_3970,3.3001 | NA | NA | NA | NA | NA | NA | 0.009 | -0.441 | -4.81 | R2 | T | NA | NA | NA | NA | NA | NA | NA | NA |
| 22 | 44325996 | rs12483959 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | NA | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM4,2.4593 | LM38,4.1437 | LM47,2.4231 | LM119,3.3734 | LM120,12.0786 | NA | NA | NA | NA | NA | NA | 0.000 | -2.105 | -2.18 | R1 | G | NA | NA | NA | 0.260 | 0.410 | 0.390 | 0.110 | 0.170 | Transcript | INTRONIC |
| 22 | 44326700 | rs11090617 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | MCV-1 | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM2,2.0757 | LM7,1.7851 | LM146,1.9619 | LM157,4.2635 | Pax5,2.5041 | NA | NA | NA | NA | NA | NA | 0.001 | -0.416 | -1.88 | R3 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 22 | 44328043 | rs1883350 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM9,20.3238 | LM102,5.942 | LM159,15.7834 | LM163,1.4445 | LM169,2.3934 | NA | NA | NA | NA | NA | NA | 0.000 | -0.732 | -2.53 | TF0 | T | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature |
| 22 | 44328730 | rs4823173 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM9,1.7796 | LM11,4.8799 | LM164,1.9237 | Ar,1.3307 | Hand1-Tcfe2a,3.3422 | NA | NA | NA | NA | NA | NA | 0.000 | -2.035 | -3.83 | R3 | G | 0.148 | 0.131 | 0.156 | 0.260 | 0.420 | 0.390 | 0.110 | 0.170 | Transcript |
| 22 | 44329078 | rs2076211 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000478713,ENSG00000100344 | ENST00000497129,ENSG00000100344 | MCV-1 | NA | chr22,44320001,44330000,chr7,76170001,76180000,261,Hi-C | NA | LM5,3.9922 | LM9,48.0684 | LM36,1.5475 | LM40,1.2783 | LM58,5.3695 | NA | NA | NA | NA | NA | NA | 0.000 | -0.365 | -1.91 | L0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript |
| 22 | 44330128 | rs1977081 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | NA | NA | Cep3-primary,1.2805 | Cep3-primary,1.371 | Cep3-primary,45.3177 | Cha4-primary,43.9434 | Gal4-primary,1.3118 | NA | NA | NA | NA | NA | NA | 0.049 | 0.452 | 0.419 | R0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 22 | 44330274 | rs4823174 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | NA | NA | Phd1-FL-primary,4.2268 | Rpn4-primary,1.5787 | Ykl222c-DBD-primary,42.6626 | LM1,4.2977 | LM6,1.4274 | NA | NA | NA | NA | NA | NA | 0.000 | -0.527 | -2.75 | TF0 | G | NA | NA | NA | 0.230 | 0.160 | 0.230 | 0.120 | 0.370 | Transcript | INTRONIC |
| 22 | 44331943 | rs1883349 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | NA | NA | LM2,1.6638 | LM2,6.3514 | LM4,3.8969 | LM7,6.6775 | LM14,2.5623 | NA | NA | NA | NA | NA | NA | 0.000 | -0.171 | -1.08 | R3 | G | NA | NA | NA | 0.270 | 0.420 | 0.400 | 0.130 | 0.200 | Transcript | INTRONIC |
| 22 | 44332570 | rs2281135 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | NA | NA | Barhl2_3868,1.9021 | Cutl1_3494,4.1366 | Cutl1_3494,8.2029 | Gzf3-primary,6.4425 | Isl2_3430,2.0519 | NA | NA | NA | NA | NA | NA | 0.000 | -2.464 | -6.13 | TF0 | A | NA | NA | NA | 0.270 | 0.420 | 0.400 | 0.130 | 0.200 | Transcript | INTRONIC |
| 22 | 44332653 | rs2072907 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | MCV-2 | NA | NA | NA | Dobox5_3493,2.3128 | Fkh1-FL-primary,2.707 | Gln3-primary,2.9673 | Gsc_2327,11.1002 | Hoxb8_3780,2.1836 | NA | NA | NA | NA | NA | NA | 0.000 | -4.614 | -7 | TF0 | G | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 22 | 44333479 | rs2072905 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | NA | NA | LM23,1.5036 | LM28,1.5877 | LM54,10.9758 | LM72,1.2852 | LM76,1.8178 | NA | NA | NA | NA | NA | NA | 0.010 | 0.210 | 0.468 | L0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 22 | 44333694 | rs2896019 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | NA | NA | Hlx1_2350,1.9112 | Rhox11_1765,2.4822 | Rhox11_2205,2.2172 | Stp2-primary,1.5374 | Yap6-primary,3.6643 | NA | NA | NA | NA | NA | NA | 0.000 | -0.091 | -0.242 | L1 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 22 | 44335744 | rs2073081 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | NA | NA | NA | NA | Nkx2-3_3435,1.495 | Pbf2-primary,2.5194 | Yap6-primary,1.3741 | LM9,4.1899 | LM93,1.2618 | NA | NA | NA | NA | NA | NA | 0.000 | -1.291 | -3.27 | R0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 22 | 44336098 | rs1010023 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | ENST00000497129,ENSG00000100344 | MCV-1 | NA | NA | NA | LM4,2.3746 | LM214,1.9402 | CREB1,1.8299 | RORA_1,2.44 | RXRA-VDR,1.7165 | NA | NA | NA | NA | NA | NA | 0.000 | -0.818 | -3.54 | R3 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 22 | 44336310 | rs1010022 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | NA | NA | NA | NA | LM93,2.8913 | usp,3.2096 | Pax2,5.9869 | Roaz,4.1517 | ABI4,3.0995 | NA | NA | NA | NA | NA | NA | 0.001 | -0.299 | -1.12 | R3 | A | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 934 |
| 22 | 44337533 | rs926633 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | NA | NA | NA | NA | Crx_3485,1.4566 | Dmbx1_2277,3.8543 | Hoxd3_1742,1.6826 | Oaf1-DBD-primary,2.9689 | Obox1_3970,1.5883 | NA | NA | NA | NA | NA | NA | 0.000 | -0.671 | -1.68 | R3 | A | NA | NA | NA | 0.270 | 0.420 | 0.400 | 0.150 | 0.190 | Transcript | INTRONIC | 934 |
| 22 | 44338134 | rs3810622 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | MCV-1 | NA | NA | NA | Cgd2_3490,1.4466 | Met32-primary,24.7127 | Pdr1-DBD-primary,1.7759 | Phd1-FL-primary,2.9847 | Phd1-FL-primary,3.1964 | NA | NA | NA | NA | NA | NA | 0.000 | -0.701 | -1.88 | TF0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 934 |
| 22 | 44340922 | rs2294916 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | MCV-1 | NA | NA | NA | Cphx_3484,5.2229 | Cphx_3484,1.6016 | LM1,1.3424 | LM2,2.2385 | LM31,1.4384 | NA | NA | NA | NA | NA | NA | 0.000 | -0.671 | -5.13 | R3 | T | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature | REGULATORY | 929 |
| 22 | 44341193 | rs4823179 | NM_025225,PNPLA3 | ENST00000216180,ENSG00000100344 | ENST00000406117,ENSG00000100344 | ENST00000423180,ENSG00000100344 | MCV-4 | NA | NA | NA | Asg1-DBD-primary,2.6289 | Asg1-DBD-primary,2.5847 | Fhl1-DBD-primary,2.2218 | Gal4-primary,1.6222 | Gsm1-FL-primary,1.9288 | NA | NA | NA | NA | NA | NA | 0.000 | -1.151 | -4.62 | TF0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 929 |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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