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encyclopedia of Rare Disease Annotation for Precision Medicine

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	recessive dystrophic epidermolysis bullosa

Disease ID	1638
Disease	recessive dystrophic epidermolysis bullosa
Synonym	dysplastic epidermolysis bullosa dystrophica dystrophic epidermolysis bullosa, autosomal recessive ebr1 epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, generalized severe, autosomal recessive epidermolysis bullosa dystrophica, hallopeau siemens type epidermolysis bullosa dystrophica, hallopeau-siemens type epidermolysis bullosa dystrophica, recessive hallopeau siemens dis hallopeau siemens disease hallopeau-siemens disease polydysplastic epidermolysis bullosa rdeb recessive dystrophic epidermolysis bullosa (disorder)
OMIM	OMIM:226600
UMLS	C0079474
SNOMED-CT	SNOMEDCT_US_2016_09_01:48528004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0007137 \| squamous cell carcinoma \| 5 C0553723 \| cutaneous squamous cell carcinoma \| 2 C0035078 \| renal failure \| 1 C0022661 \| chronic renal failure \| 1 C0007117 \| basal cell carcinoma \| 1 C0079588 \| x-linked ichthyosis \| 1 C0020437 \| hypercalcemia \| 1 C0878544 \| cardiomyopathy \| 1 C0020757 \| ichthyosis \| 1 C0006142 \| breast cancer \| 1 C0007137 \| squamous cell carcinomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1294 \| COL7A1 \| CLINVAR;ORPHANET;UNIPROT 4312 \| MMP1 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:26) 265 \| AMELX \| 1.458 \| DISEASES 383 \| ARG1 \| 1.093 \| DISEASES 960 \| CD44 \| 1.256 \| DISEASES 629 \| CFB \| 1.21 \| DISEASES 3426 \| CFI \| 1.556 \| DISEASES 1308 \| COL17A1 \| 2.58 \| DISEASES 1294 \| COL7A1 \| 8.327 \| DISEASES 1490 \| CTGF \| 1.248 \| DISEASES 1810 \| DR1 \| 4.62 \| DISEASES 1832 \| DSP \| 1.209 \| DISEASES 2200 \| FBN1 \| 1.324 \| DISEASES 2312 \| FLG \| 1.872 \| DISEASES 3146 \| HMGB1 \| 1.553 \| DISEASES 3655 \| ITGA6 \| 1.453 \| DISEASES 3713 \| IVL \| 2.528 \| DISEASES 11012 \| KLK11 \| 2.014 \| DISEASES 3914 \| LAMB3 \| 2.248 \| DISEASES 4312 \| MMP1 \| 2.992 \| DISEASES 4318 \| MMP9 \| 1.039 \| DISEASES 26151 \| NAT9 \| 1.459 \| DISEASES 4810 \| NHS \| 3.211 \| DISEASES 5339 \| PLEC \| 1.484 \| DISEASES 6256 \| RXRA \| 1.525 \| DISEASES 7100 \| TLR5 \| 1.063 \| DISEASES 259236 \| TMIE \| 2.978 \| DISEASES 84000 \| TMPRSS13 \| 2.492 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1638
Disease	recessive dystrophic epidermolysis bullosa
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0030731 \| Carcinoma \| 4 HP:0002860 \| Squamous cell carcinoma \| 4 HP:0001638 \| Cardiomyopathy \| 1 HP:0200042 \| Skin ulcer \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0002043 \| Esophageal stricture \| 1 HP:0011664 \| Left ventricular non-compaction cardiomyopathy \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0002671 \| Basalioma \| 1 HP:0008064 \| Ichthyosis \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0004057 \| Mitten deformity \| 1 HP:0012817 \| Noncompaction of the ventricular myocardium \| 1

Disease ID	1638
Disease	recessive dystrophic epidermolysis bullosa
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C2678504 \| osteoporosis C1000483 \| anemia C0346054 \| verruciform xanthoma C0268382 \| renal amyloidosis C0268382 \| amyloid nephropathy C0037299 \| skin ulcers C0037284 \| skin lesions C0027962 \| melanocytic nevi C0017661 \| iga nephropathy C0014866 \| esophageal strictures C0014866 \| esophageal stricture C0014866 \| esophageal stenosis C0014860 \| esophageal perforation C0007137 \| squamous cell carcinoma C0007114 \| skin cancer
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0007137 \| squamous cell carcinoma \| 4

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912828	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48566281	A	T
rs121912830	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48592613	G	T,A
rs121912838	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48575428	C	T
rs121912839	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48572712	C	T
rs121912840	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48581483	C	G
rs121912849	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48575236	G	A
rs121912851	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48567736	C	T
rs121912852	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48570304	G	A
rs121912853	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48566719	C	T,A
rs121912853	NA	1294	COL7A1	umls:C0079474	UNIPROT	NA	0.458186605	NA	COL7A1	3	48566719	C	T,A
rs121912854	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48592915	G	A
rs142566193	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48566303	G	A
rs143457874	10233647	1294	COL7A1	umls:C0079474	BeFree	A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.	0.458186605	1999	COL7A1;UCN2	3	48565636	G	A
rs2228561	NA	1294	COL7A1	umls:C0079474	UNIPROT	NA	0.458186605	NA	COL7A1	3	48590581	G	A
rs35761247	NA	1294	COL7A1	umls:C0079474	UNIPROT	NA	0.458186605	NA	COL7A1	3	48585691	G	A
rs730880285	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1;MIR711	3	48580881	C	G
rs730880286	NA	1294	COL7A1	umls:C0079474	CLINVAR	NA	0.458186605	NA	COL7A1	3	48586378	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)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1638
Disease	recessive dystrophic epidermolysis bullosa
Case	(Waiting for update.)

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