eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mitochondrial complex i deficiency | ||||
| Disease ID | 1479 |
|---|---|
| Disease | mitochondrial complex i deficiency |
| OMIM | |
| DOID | |
| UMLS | C1838979 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0878544 | cardiomyopathy | 1 C0023264 | leigh syndrome | 1 C0035579 | rickets | 1 C1704375 | hypophosphatemic rickets | 1 C0023520 | leukodystrophy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:21) 4726 | NDUFS6 | CLINVAR;CTD_human 4723 | NDUFV1 | CLINVAR;CTD_human;UNIPROT 126328 | NDUFA11 | CLINVAR;CTD_human 4694 | NDUFA1 | CLINVAR;CTD_human;UNIPROT 55572 | FOXRED1 | CLINVAR;CTD_human;UNIPROT 4724 | NDUFS4 | CLINVAR;CTD_human 91942 | NDUFAF2 | CLINVAR;CTD_human 29078 | NDUFAF4 | CLINVAR;CTD_human;UNIPROT 79133 | NDUFAF5 | CLINVAR;CTD_human;UNIPROT 4728 | NDUFS8 | CLINVAR 374291 | NDUFS7 | UNIPROT 4722 | NDUFS3 | CLINVAR 4719 | NDUFS1 | CLINVAR;CTD_human;UNIPROT 4720 | NDUFS2 | CLINVAR;CTD_human;UNIPROT 137682 | NDUFAF6 | UNIPROT 4709 | NDUFB3 | CLINVAR 4715 | NDUFB9 | CLINVAR 4729 | NDUFV2 | CLINVAR;CTD_human 80224 | NUBPL | CLINVAR;CTD_human;UNIPROT 51103 | NDUFAF1 | CLINVAR 25915 | NDUFAF3 | CLINVAR;CTD_human;UNIPROT |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 199 | AIF1 | 1.603 | DISEASES 712 | C1QA | 1.549 | DISEASES 2395 | FXN | 1.623 | DISEASES 51218 | GLRX5 | 3.344 | DISEASES 2877 | GPX2 | 2.567 | DISEASES 2878 | GPX3 | 2.146 | DISEASES 219844 | HYLS1 | 2.498 | DISEASES 56704 | JPH1 | 3.462 | DISEASES 4508 | MT-ATP6 | 2.357 | DISEASES 4512 | MT-CO1 | 1.96 | DISEASES 4536 | MT-ND2 | 2.488 | DISEASES 4539 | MT-ND4L | 3.453 | DISEASES 4541 | MT-ND6 | 2.254 | DISEASES 4694 | NDUFA1 | 4.445 | DISEASES 126328 | NDUFA11 | 5.066 | DISEASES 4702 | NDUFA8 | 2.893 | DISEASES 25915 | NDUFAF3 | 3.628 | DISEASES 29078 | NDUFAF4 | 4.347 | DISEASES 137682 | NDUFAF6 | 4.034 | DISEASES 4712 | NDUFB6 | 2.533 | DISEASES 4719 | NDUFS1 | 5.456 | DISEASES 4720 | NDUFS2 | 3.44 | DISEASES 4725 | NDUFS5 | 4.806 | DISEASES 4723 | NDUFV1 | 5.416 | DISEASES 4729 | NDUFV2 | 3.356 | DISEASES 27035 | NOX1 | 2.074 | DISEASES 124056 | NOXO1 | 3.623 | DISEASES 23590 | PDSS1 | 1.956 | DISEASES 23410 | SIRT3 | 2.334 | DISEASES 6648 | SOD2 | 1.801 | DISEASES 6812 | STXBP1 | 2.737 | DISEASES 55863 | TMEM126B | 4.777 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1479 |
|---|---|
| Disease | mitochondrial complex i deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1479 |
|---|---|
| Disease | mitochondrial complex i deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| NDUFB3 | NM_002491, c.64T>C (p.W22R) | ||
| NDUFA1 | NM_004541, c.127T>C (p.Y43H) | doi:10.1038/gim.2015.186 | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:55) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893899 | NA | 4724 | NDUFS4 | umls:C1838979 | CLINVAR | NA | 0.320271442 | NA | NDUFS4 | 5 | 53560706 | G | A |
| rs104894270 | NA | 4722 | NDUFS3 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS3 | 11 | 47582436 | C | T |
| rs104894884 | NA | 4694 | NDUFA1 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFA1;RNF113A | X | 119871933 | G | C |
| rs104894885 | NA | 4694 | NDUFA1 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFA1;RNF113A | X | 119873312 | G | A,C |
| rs111033588 | NA | 4728 | NDUFS8 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS8 | 11 | 68036293 | G | A |
| rs118161496 | NA | 80224 | NUBPL | umls:C1838979 | CLINVAR | NA | 0.360271442 | NA | NUBPL | 14 | 31850092 | T | C |
| rs118203929 | NA | 79133 | NDUFAF5 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFAF5 | 20 | 13801652 | T | C |
| rs121434427 | NA | 4720 | NDUFS2 | umls:C1838979 | CLINVAR | NA | 0.360271442 | NA | NDUFS2 | 1 | 161209912 | G | A |
| rs121434428 | NA | 4720 | NDUFS2 | umls:C1838979 | CLINVAR | NA | 0.360271442 | NA | NDUFS2 | 1 | 161209915 | C | A |
| rs121434429 | NA | 4720 | NDUFS2 | umls:C1838979 | CLINVAR | NA | 0.360271442 | NA | FCER1G;NDUFS2 | 1 | 161213673 | T | C |
| rs121908985 | NA | 4724 | NDUFS4 | umls:C1838979 | CLINVAR | NA | 0.320271442 | NA | NDUFS4 | 5 | 53646346 | G | - |
| rs121912638 | NA | 4728 | NDUFS8 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS8;MIR4691;MIR7113 | 11 | 68033216 | G | A |
| rs121912639 | NA | 4728 | NDUFS8 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS8;MIR4691;MIR7113 | 11 | 68033165 | C | T |
| rs121913659 | NA | 4723 | NDUFV1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFV1 | 11 | 67612225 | C | T |
| rs121913660 | NA | 4723 | NDUFV1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFV1 | 11 | 67611511 | C | T |
| rs121913661 | NA | 4723 | NDUFV1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFV1 | 11 | 67610510 | G | A |
| rs121918134 | NA | 25915 | NDUFAF3 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFAF3;DALRD3;MIR191 | 3 | 49022497 | G | A,C |
| rs121918135 | NA | 25915 | NDUFAF3 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFAF3;DALRD3 | 3 | 49022903 | G | C |
| rs121918136 | NA | 25915 | NDUFAF3 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFAF3;DALRD3;MIR191;MIR425 | 3 | 49022146 | T | C |
| rs137852863 | NA | 91942 | NDUFAF2 | umls:C1838979 | CLINVAR | NA | 0.24 | NA | NDUFAF2 | 5 | 61073136 | C | T |
| rs146766138 | NA | 4728 | NDUFS8 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS8;MIR4691;MIR7113 | 11 | 68033140 | C | G,T |
| rs149271416 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206141981 | G | A |
| rs1801316 | NA | 4694 | NDUFA1 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFA1;RNF113A | X | 119872005 | G | A,C |
| rs199422224 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206145009 | T | C |
| rs199422225 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206146919 | G | A |
| rs199422226 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206146949 | G | C,A |
| rs199476116 | NA | 4536 | ND2 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | ND2 | MT | 5132 | AA | - |
| rs199476117 | NA | 4537 | ND3 | umls:C1838979 | CLINVAR | NA | 0.24 | NA | ND3 | MT | 10158 | T | C |
| rs199476118 | NA | 4535 | ND1 | umls:C1838979 | CLINVAR | NA | 0.24 | NA | ND1 | MT | 3460 | G | A |
| rs199476132 | NA | 4570 | TRNN | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NA | MT | 5728 | T | C |
| rs200401432 | NA | 80224 | NUBPL | umls:C1838979 | CLINVAR | NA | 0.360271442 | NA | NUBPL;LOC105370437 | 14 | 31562125 | G | A |
| rs200800978 | NA | 4709 | NDUFB3 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFB3 | 2 | 201085526 | G | T |
| rs201430951 | NA | 80224 | NUBPL | umls:C1838979 | CLINVAR | NA | 0.360271442 | NA | NUBPL | 14 | 31599308 | T | C |
| rs267606689 | NA | 79133 | NDUFAF5 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFAF5 | 20 | 13794939 | A | C |
| rs267606829 | NA | 55572 | FOXRED1 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | FOXRED1 | 11 | 126275389 | C | T |
| rs267606830 | NA | 55572 | FOXRED1 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | FOXRED1 | 11 | 126277517 | A | C,G |
| rs267606888 | NA | 4536 | ND2 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | ND2 | MT | 4810 | G | A |
| rs267606890 | NA | 4537 | ND3 | umls:C1838979 | CLINVAR | NA | 0.24 | NA | ND3 | MT | 10191 | T | C |
| rs267606913 | NA | 4726 | NDUFS6 | umls:C1838979 | CLINVAR | NA | 0.320271442 | NA | NDUFS6 | 5 | 1815885 | G | A |
| rs28384199 | NA | 4538 | ND4 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | ND4 | MT | 11777 | C | A,G |
| rs28939679 | NA | 4728 | NDUFS8 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS8;MIR4691;MIR7113 | 11 | 68033147 | C | T |
| rs372691318 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206130127 | G | A |
| rs387906956 | NA | 51103 | NDUFAF1 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFAF1 | 15 | 41394999 | T | G |
| rs387906957 | NA | 51103 | NDUFAF1 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFAF1 | 15 | 41394860 | T | C |
| rs387906958 | NA | 51103 | NDUFAF1 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFAF1 | 15 | 41394987 | G | A |
| rs387907087 | NA | 55572 | FOXRED1 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | FOXRED1 | 11 | 126276476 | C | T |
| rs387907199 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206127898 | T | C |
| rs397514617 | NA | 4728 | NDUFS8 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS8 | 11 | 68036356 | C | A |
| rs397514618 | NA | 4728 | NDUFS8 | umls:C1838979 | CLINVAR | NA | 0.12 | NA | NDUFS8;MIR4691;MIR7113 | 11 | 68033000 | G | C |
| rs397515383 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206146972 | ATG | - |
| rs397515440 | NA | 80224 | NUBPL | umls:C1838979 | CLINVAR | NA | 0.360271442 | NA | NUBPL | 14 | 31599310 | G | T |
| rs397515447 | NA | 4719 | NDUFS1 | umls:C1838979 | CLINVAR | NA | 0.360542884 | NA | NDUFS1 | 2 | 206127826 | C | T |
| rs398124308 | NA | 55572 | FOXRED1 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | FOXRED1 | 11 | 126275005 | - | AGTG |
| rs587776949 | NA | 4724 | NDUFS4 | umls:C1838979 | CLINVAR | NA | 0.320271442 | NA | NDUFS4 | 5 | 53683155 | A | - |
| rs63751061 | NA | 29078 | NDUFAF4 | umls:C1838979 | CLINVAR | NA | 0.36 | NA | NDUFAF4;KLHL32 | 6 | 96896790 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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 | 1479 |
|---|---|
| Disease | mitochondrial complex i deficiency |
| Case | (Waiting for update.) |