eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital heart block | ||||
| Disease ID | 1264 |
|---|---|
| Disease | congenital heart block |
| Synonym | congenital complete heart block congenital heart block (disorder) congenital heart block nos congenital heart block nos (disorder) congenital heart block, unspecified congenital heart block, unspecified (disorder) familial congenital heart block heart block, congenital |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0149530 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0878544 | cardiomyopathy | 2 C0007194 | hypertrophic cardiomyopathy | 1 C0409974 | lupus erythematosus | 1 C1527336 | sjogren syndrome | 1 C0018799 | heart diseases | 1 C0018799 | heart disease | 1 C0014117 | endocardial fibroelastosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:36) 309 | ANXA6 | 1.819 | DISEASES 8913 | CACNA1G | 1.601 | DISEASES 811 | CALR | 2.664 | DISEASES 959 | CD40LG | 1.103 | DISEASES 961 | CD47 | 1.008 | DISEASES 1041 | CDSN | 2.922 | DISEASES 78987 | CRELD1 | 1.123 | DISEASES 51428 | DDX41 | 2.983 | DISEASES 11266 | DUSP12 | 1.675 | DISEASES 2086 | ERV3-1 | 3.333 | DISEASES 3117 | HLA-DQA1 | 2.043 | DISEASES 3118 | HLA-DQA2 | 1.206 | DISEASES 3123 | HLA-DRB1 | 1.071 | DISEASES 3360 | HTR4 | 3.366 | DISEASES 10964 | IFI44L | 2.479 | DISEASES 23210 | JMJD6 | 1.398 | DISEASES 4205 | MEF2A | 1.175 | DISEASES 4208 | MEF2C | 1.27 | DISEASES 4600 | MX2 | 1.569 | DISEASES 4688 | NCF2 | 1.421 | DISEASES 54475 | NLE1 | 3.189 | DISEASES 5144 | PDE4D | 1.456 | DISEASES 26227 | PHGDH | 1.047 | DISEASES 10411 | RAPGEF3 | 1.38 | DISEASES 440163 | RNASE13 | 3.193 | DISEASES 91543 | RSAD2 | 2.144 | DISEASES 51150 | SDF4 | 1.196 | DISEASES 6614 | SIGLEC1 | 1.819 | DISEASES 140885 | SIRPA | 1.311 | DISEASES 6625 | SNRNP70 | 4.413 | DISEASES 6709 | SPTAN1 | 1.594 | DISEASES 51284 | TLR7 | 1.457 | DISEASES 8718 | TNFRSF25 | 4.003 | DISEASES 1861 | TOR1A | 2.421 | DISEASES 6738 | TROVE2 | 5.801 | DISEASES 7784 | ZP3 | 1.979 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1264 |
|---|---|
| Disease | congenital heart block |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0006690 | Myocardial calcification HP:0001653 | Mitral valve insufficiency HP:0001692 | Primary atrial arrhythmia HP:0001685 | Myocardial fibrosis HP:0006681 | Absent atrioventricular node HP:0001638 | Cardiomyopathy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0001662 | Bradycardia | 3 HP:0001638 | Cardiomyopathy | 2 HP:0001724 | Aortic dilatation | 1 HP:0001639 | Hypertrophic cardiomyopathy | 1 HP:0001706 | Endocardial fibroelastosis | 1 HP:0001709 | Complete heart block | 1 HP:0030746 | Intraventricular hemorrhage | 1 HP:0004602 | Fusion of cervical vertebrae c2-3 | 1 |
| Disease ID | 1264 |
|---|---|
| Disease | congenital heart block |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001685 | Myocardial fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001653 | Mitral regurgitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001692 | Primary atrial arrhythmia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001685 | Myocardial fibrosis | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| Disease ID | 1264 |
|---|---|
| Disease | congenital heart block |
| Case | (Waiting for update.) |