eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| reticulate acropigmentation of kitamura | ||||
| Disease ID | 1309 |
|---|---|
| Disease | reticulate acropigmentation of kitamura |
| Synonym | acropigmentatio reticularis kitamura reticulate acropigmentation kitamura's reticulate acropigmentation rak reticulate acropigmentation of kitamura (disorder) reticulate pigmentation of kitamura rpk |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0406811 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:1) ADAM10 | 15q21.3 |
| Disease ID | 1309 |
|---|---|
| Disease | reticulate acropigmentation of kitamura |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1309 |
|---|---|
| Disease | reticulate acropigmentation of kitamura |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs483352912 | NA | 102 | ADAM10 | umls:C0406811 | CLINVAR | NA | 0.360271442 | NA | ADAM10 | 15 | 58679193 | G | A |
| rs483352913 | NA | 102 | ADAM10 | umls:C0406811 | CLINVAR | NA | 0.360271442 | NA | ADAM10 | 15 | 58621471 | C | T |
| rs483352914 | NA | 102 | ADAM10 | umls:C0406811 | CLINVAR | NA | 0.360271442 | NA | ADAM10 | 15 | 58679179 | A | T |
| rs483352915 | NA | 102 | ADAM10 | umls:C0406811 | CLINVAR | NA | 0.360271442 | NA | ADAM10 | 15 | 58627796 | T | - |
| rs483352916 | NA | 102 | ADAM10 | umls:C0406811 | CLINVAR | NA | 0.360271442 | NA | ADAM10 | 15 | 58611932 | C | T |
GWASdb Annotation(Total Genotypes:13) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 6 | 116262976 | rs495565 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | chr6,116260001,116270000,chrX,33010001,33020000,6,Hi-C | chr6,116260001,116270000,chrX,46720001,46730000,7,Hi-C | chr6,116260001,116270000,chr6,115940001,115950000,8,Hi-C | NA | LM4,1.999 | LM14,1.2718 | LM22,2.8065 | LM117,1.2721 | LM134,8.2775 | hsa-miR-1250-3p,-0.112000 | hsa-miR-153-5p,0.039000 | hsa-miR-5696,0.029000 | hsa-miR-579-3p,0.022000 | hsa-miR-664b-3p,0.019000 | NA | NA | NA | NA | NA | 0.965 | -0.341 | -0.633 | F1 | G | NA | NA | NA | 0.650 | 0.820 | 0.540 | 0.520 |
| 6 | 116263181 | rs580396 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | chr6,116260001,116270000,chrX,33010001,33020000,6,Hi-C | chr6,116260001,116270000,chrX,46720001,46730000,7,Hi-C | chr6,116260001,116270000,chr6,115940001,115950000,8,Hi-C | NA | Dmbx1_2277,1.764 | Dobox5_3493,2.1654 | Gsc_2327,1.8905 | Obox5_2284,1.994 | Otx2_3441,2.543 | hsa-miR-544b,-0.247000 | NA | NA | NA | NA | NA | 0.837 | 0.548 | 1.31 | L1 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | 3PRIME_UTR | 559 |
| 6 | 116267166 | rs536160 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | MCV-7 | NA | chr6,116260001,116270000,chrX,33010001,33020000,6,Hi-C | chr6,116260001,116270000,chrX,46720001,46730000,7,Hi-C | chr6,116260001,116270000,chr6,115940001,115950000,8,Hi-C | NA | Ceh-22,1.5519 | Sfl1-DBD-primary,1.4588 | Six4_2860,1.4018 | LM29,5.6281 | LM91,4.4778 | NA | NA | NA | NA | NA | NA | 0.396 | 0.275 | 0.235 | L1 | T | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature | REGULATORY | 559 |
| 6 | 116274730 | rs496311 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | chr6,116270001,116280000,chr1,142950001,142960000,8,Hi-C | NA | LM66,2.1528 | LM71,2.4977 | LM135,3.717 | LM136,2.7478 | LM151,1.3174 | NA | NA | NA | NA | NA | NA | 0.000 | -1.943 | -6.94 | L1 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 557 | 2.68 | 3.00 |
| 6 | 116298479 | rs1193609 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | NA | NA | LM2,1.8643 | LM23,1.5103 | LM47,1.7975 | LM103,4.509 | Ar,1.3962 | NA | NA | NA | NA | NA | NA | 0.000 | -0.296 | -2.27 | F0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 600 | 1.80 | 1.36 |
| 6 | 116298792 | rs1193608 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | NA | NA | LM44,1.2743 | LM111,1.3086 | LM132,1.5774 | LM142,3.4484 | LM144,1.651 | NA | NA | NA | NA | NA | NA | 0.000 | -0.002 | 0.0691 | F0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 601 | 3.00 | 2.00 |
| 6 | 116305064 | rs3822858 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | chr6,116300001,116310000,chr6,121040001,121050000,29,Hi-C | chr6,116300001,116310000,chr9,45520001,45530000,107,Hi-C | chr6,116300001,116310000,chr12,34450001,34460000,8,Hi-C | chr6,116300001,116310000,chr4,9240001,9250000,32,Hi-C | NA | LM9,1.4916 | LM58,1.7185 | LM59,1.4051 | LM93,2.1833 | LM177,4.066 | NA | NA | NA | NA | NA | NA | 0.000 | -0.524 | -3.35 | R2 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 6 | 116309649 | rs3798236 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | chr6,116300001,116310000,chr6,121040001,121050000,29,Hi-C | chr6,116300001,116310000,chr9,45520001,45530000,107,Hi-C | chr6,116300001,116310000,chr12,34450001,34460000,8,Hi-C | chr6,116300001,116310000,chr4,9240001,9250000,32,Hi-C | NA | LM15,3.1298 | LM17,2.0232 | LM33,3.4047 | LM44,2.7726 | LM68,1.3864 | NA | NA | NA | NA | NA | NA | 0.506 | 0.109 | 0.396 | F0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 6 | 116310243 | rs1933738 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | NA | NA | Duxl_1286,1.5909 | Gat1-primary,1.477 | Mbp1-primary,1.2593 | Meis1_2335,1.7359 | Mrg1_2246,1.425 | NA | NA | NA | NA | NA | NA | 0.001 | 0.895 | 2.75 | R2 | A | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 638 | 2.00 | 2.00 |
| 6 | 116310287 | rs1933737 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000 | -0.146 | 0.236 | R2 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 638 | 2.00 | 1.00 | 3.00 | 0.80 | 606573 | NA |
| 6 | 116312893 | rs9488822 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | NA | NA | LM97,8.5235 | LM117,1.4328 | LM197,3.1044 | LM207,9.4639 | Broad-complex_2,1.4428 | NA | NA | NA | NA | NA | NA | 0.061 | 0.268 | 0.225 | F1 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 636 | 3.00 | 4.00 |
| 6 | 116313931 | rs3822857 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | NA | NA | Barhl1_2590,1.7241 | Barhl2_3868,2.0082 | Bsx_3483,1.6336 | Hmx1_3423,4.628 | Hmx2_3424,5.7022 | NA | NA | NA | NA | NA | NA | 0.002 | -0.033 | -0.0445 | L1 | G | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 626 | 2.00 | 2.00 |
| 6 | 116316103 | rs3822856 | NM_002031,FRK | ENST00000368626,ENSG00000111816 | NA | NA | NA | NA | Isl2_3430,1.8331 | Isx_3445,1.4029 | Nkx2-5_3436,1.3026 | Og2x_3719,3.7478 | Pax7_3783,1.6689 | NA | NA | NA | NA | NA | NA | 0.000 | -2.549 | -5.36 | L1 | C | NA | NA | NA | 0.460 | 0.770 | 0.400 | 0.170 | 0.430 | Transcript | INTRONIC | 618 | 6.24 | 6.20 |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1309 |
|---|---|
| Disease | reticulate acropigmentation of kitamura |
| Case | (Waiting for update.) |