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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   acne rosacea
  

Disease ID 786
Disease acne rosacea
Definition
an acne like skin disease occurring mostly in middle aged adults
Synonym
acne erythematosa
acne rosacea (disorder)
acne roscea
acne, erythematosa
acne, rosacea
disorders rosacea
rosacea
rosacea (disorder)
rosacea [disease/finding]
rosacea acne
rosacea nos
rosacea nos (disorder)
DOID
UMLS
C0035854
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:22)
C0024236  |  lymphedema  |  2
C0011847  |  diabetes  |  2
C0011603  |  dermatitis  |  2
C0010043  |  corneal ulcer  |  1
C0015464  |  facial nerve palsy  |  1
C0033860  |  psoriasis  |  1
C0003467  |  anxiety  |  1
C0010346  |  crohn's disease  |  1
C0037274  |  skin disorder  |  1
C0376175  |  bell's palsy  |  1
C0042373  |  vascular disease  |  1
C0036508  |  seborrheic dermatitis  |  1
C0042870  |  vitamin d defic  |  1
C0022568  |  keratitis  |  1
C0004134  |  ataxia  |  1
C0022602  |  actinic keratoses  |  1
C0039446  |  telangiectasia  |  1
C0010068  |  coronary artery disease  |  1
C0042870  |  vitamin d deficiency  |  1
C0037274  |  skin disorders  |  1
C0007222  |  cardiovascular disease  |  1
C0011615  |  atopic dermatitis  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
2944  |  GSTM1  |  CIPHER
2950  |  GSTP1  |  CIPHER
2952  |  GSTT1  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:50)
488  |  ATP2A2  |  1.041  |  DISEASES
545  |  ATR  |  1.942  |  DISEASES
2683  |  B4GALT1  |  1.829  |  DISEASES
56244  |  BTNL2  |  1.651  |  DISEASES
153571  |  C5orf38  |  1.866  |  DISEASES
820  |  CAMP  |  5.005  |  DISEASES
6364  |  CCL20  |  1.583  |  DISEASES
64764  |  CREB3L2  |  1.253  |  DISEASES
2919  |  CXCL1  |  1.257  |  DISEASES
54878  |  DPP8  |  1.834  |  DISEASES
1832  |  DSP  |  1.025  |  DISEASES
2312  |  FLG  |  1.565  |  DISEASES
2316  |  FLNA  |  1.469  |  DISEASES
3039  |  HBA1  |  1.153  |  DISEASES
23493  |  HEY2  |  1.638  |  DISEASES
3122  |  HLA-DRA  |  1.692  |  DISEASES
3329  |  HSPD1  |  1.42  |  DISEASES
3440  |  IFNA2  |  1.144  |  DISEASES
3662  |  IRF4  |  1.795  |  DISEASES
9622  |  KLK4  |  1.961  |  DISEASES
25818  |  KLK5  |  5.312  |  DISEASES
5650  |  KLK7  |  2.454  |  DISEASES
4318  |  MMP9  |  2.457  |  DISEASES
10198  |  MPHOSPH9  |  2.881  |  DISEASES
727897  |  MUC5B  |  1.48  |  DISEASES
23077  |  MYCBP2  |  2.766  |  DISEASES
114548  |  NLRP3  |  1.174  |  DISEASES
594857  |  NPS  |  3.401  |  DISEASES
131870  |  NUDT16  |  2.437  |  DISEASES
4948  |  OCA2  |  2.208  |  DISEASES
341416  |  OR6C2  |  2.07  |  DISEASES
5915  |  RARB  |  1.013  |  DISEASES
6278  |  S100A7  |  1.29  |  DISEASES
123041  |  SLC24A4  |  3.487  |  DISEASES
6590  |  SLPI  |  1.174  |  DISEASES
10285  |  SMNDC1  |  2.611  |  DISEASES
10927  |  SPIN1  |  2.767  |  DISEASES
11005  |  SPINK5  |  2.325  |  DISEASES
56241  |  SUSD2  |  2.23  |  DISEASES
6863  |  TAC1  |  2.265  |  DISEASES
6949  |  TCOF1  |  2.567  |  DISEASES
26136  |  TES  |  1.35  |  DISEASES
7124  |  TNF  |  1.565  |  DISEASES
7442  |  TRPV1  |  2.07  |  DISEASES
51393  |  TRPV2  |  1.709  |  DISEASES
162514  |  TRPV3  |  2.141  |  DISEASES
7421  |  VDR  |  1.767  |  DISEASES
7422  |  VEGFA  |  1.666  |  DISEASES
7432  |  VIP  |  1.228  |  DISEASES
7433  |  VIPR1  |  1.577  |  DISEASES
Locus(Waiting for update.)
Disease ID 786
Disease acne rosacea
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:23)
HP:0010783  |  Erythema  |  11
HP:0001041  |  Blushing  |  6
HP:0001004  |  Lymphatic obstruction  |  2
HP:0010628  |  Facial palsy, unilateral or bilateral  |  2
HP:0003765  |  Psoriasis  |  1
HP:0001061  |  Acne  |  1
HP:0002958  |  Immune dysregulation  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0000559  |  Corneal scarring  |  1
HP:0002597  |  Abnormality of blood vessels  |  1
HP:0001677  |  Coronary artery disease  |  1
HP:0100512  |  Vitamin D deficiency  |  1
HP:0100699  |  Scarring  |  1
HP:0001047  |  Atopic dermatitis  |  1
HP:0001009  |  Telangiectases  |  1
HP:0200039  |  Pustules  |  1
HP:0012804  |  Corneal ulceration  |  1
HP:0000969  |  Dropsy  |  1
HP:0000491  |  Corneal inflammation  |  1
HP:0200034  |  Papule  |  1
HP:0001251  |  Ataxia  |  1
HP:0001051  |  Seborrheic dermatitis  |  1
HP:0000739  |  Anxiety  |  1
Disease ID 786
Disease acne rosacea
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C1611280  |  allergy
C0850666  |  helicobacter pylori infection
C0549398  |  meibomitis
C0406486  |  ocular rosacea
C0341024  |  familial chronic mucocutaneous candidiasis
C0005741  |  blepharitis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:5)
C0041834  |  erythema  |  8
C0016382  |  flushing  |  5
C0009450  |  infection  |  2
C1402315  |  vascular lesions  |  1
C0039446  |  telangiectasia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs7630352569568256244BTNL2umls:C0035854BeFreeExploratory immunohistochemical analysis of HLA-DRA and BTNL2 expression in papulopustular rosacea lesions from six individuals, including one with the rs763035 variant, revealed staining in the perifollicular inflammatory infiltrate of rosacea for both proteins.0.0002714422015NA632427068GA
rs763035256956823122HLA-DRAumls:C0035854BeFreeExploratory immunohistochemical analysis of HLA-DRA and BTNL2 expression in papulopustular rosacea lesions from six individuals, including one with the rs763035 variant, revealed staining in the perifollicular inflammatory infiltrate of rosacea for both proteins.0.0002714422015NA632427068GA
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 786
Disease acne rosacea
Case(Waiting for update.)