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	oral submucous fibrosis

Disease ID	131
Disease	oral submucous fibrosis
Definition	Irreversible FIBROSIS of the submucosal tissue of the MOUTH.
Synonym	fibroses, oral submucous fibrosis, oral submucous oral submucosal fibrosis (disorder) oral submucous fibroses oral submucous fibrosis [disease/finding] submucous fibroses, oral submucous fibrosis, oral
Orphanet	ORPHANET:357154
DOID	DOID:5773
ICD10	ICD10CM:K13.5
UMLS	C0029172
MeSH	D009914
SNOMED-CT	SNOMEDCT_US_2016_09_01:32883009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0206706 \| verrucous carcinoma \| 2 C0878500 \| epithelial dysplasia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 2247 \| FGF2 \| CTD_human 7124 \| TNF \| CTD_human 7040 \| TGFB1 \| CTD_human 1278 \| COL1A2 \| CTD_human 3458 \| IFNG \| CTD_human 1493 \| CTLA4 \| CTD_human 1277 \| COL1A1 \| CTD_human 4318 \| MMP9 \| CTD_human 1471 \| CST3 \| CTD_human 5743 \| PTGS2 \| CTD_human 7076 \| TIMP1 \| CTD_human 100507436 \| MICA \| CTD_human 4312 \| MMP1 \| CTD_human 4015 \| LOX \| CTD_human 4313 \| MMP2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:22) 1277 \| COL1A1 \| CIPHER;CTD_human 1278 \| COL1A2 \| CIPHER;CTD_human 1471 \| CST3 \| CIPHER;CTD_human 1493 \| CTLA4 \| CIPHER;CTD_human 3105 \| HLA-A \| CIPHER 3106 \| HLA-B \| CIPHER 3107 \| HLA-C \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 4015 \| LOX \| CIPHER;CTD_human 4049 \| LTA \| CIPHER 100507436 \| MICA \| CIPHER;CTD_human 4317 \| MMP8 \| CIPHER 7040 \| TGFB1 \| CIPHER;CTD_human 7124 \| TNF \| CIPHER;CTD_human 7076 \| TIMP1 \| CTD_human 3458 \| IFNG \| CTD_human 5743 \| PTGS2 \| CTD_human 4312 \| MMP1 \| CTD_human 4313 \| MMP2 \| CTD_human 4318 \| MMP9 \| CTD_human 2247 \| FGF2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:52) 8754 \| ADAM9 \| 1.494 \| DISEASES 55256 \| ADI1 \| 1.858 \| DISEASES 307 \| ANXA4 \| 1.734 \| DISEASES 1029 \| CDKN2A \| 1.111 \| DISEASES 1286 \| COL4A4 \| 1.507 \| DISEASES 1429 \| CRYZ \| 1.316 \| DISEASES 1471 \| CST3 \| 1.464 \| DISEASES 1490 \| CTGF \| 3.529 \| DISEASES 1499 \| CTNNB1 \| 1.347 \| DISEASES 4283 \| CXCL9 \| 1.888 \| DISEASES 1543 \| CYP1A1 \| 2.391 \| DISEASES 1572 \| CYP2F1 \| 2.596 \| DISEASES 11218 \| DDX20 \| 2.197 \| DISEASES 1660 \| DHX9 \| 1.517 \| DISEASES 2022 \| ENG \| 1.852 \| DISEASES 255324 \| EPGN \| 1.443 \| DISEASES 2149 \| F2R \| 1.135 \| DISEASES 54097 \| FAM3B \| 2.285 \| DISEASES 2224 \| FDPS \| 1.6 \| DISEASES 2263 \| FGFR2 \| 1.285 \| DISEASES 2316 \| FLNA \| 2.619 \| DISEASES 2512 \| FTL \| 1.453 \| DISEASES 10249 \| GLYAT \| 2.532 \| DISEASES 3123 \| HLA-DRB1 \| 1.12 \| DISEASES 3725 \| JUN \| 2.023 \| DISEASES 23028 \| KDM1A \| 1.11 \| DISEASES 3875 \| KRT18 \| 1.331 \| DISEASES 3880 \| KRT19 \| 1.527 \| DISEASES 4014 \| LOR \| 2.91 \| DISEASES 5599 \| MAPK8 \| 1.895 \| DISEASES 84930 \| MASTL \| 2.481 \| DISEASES 4312 \| MMP1 \| 2.57 \| DISEASES 4318 \| MMP9 \| 2.161 \| DISEASES 91807 \| MYLK3 \| 2.492 \| DISEASES 135112 \| NCOA7 \| 3.182 \| DISEASES 56288 \| PARD3 \| 1.927 \| DISEASES 5478 \| PPIA \| 1.12 \| DISEASES 5743 \| PTGS2 \| 2.43 \| DISEASES 57402 \| S100A14 \| 2.511 \| DISEASES 871 \| SERPINH1 \| 2.196 \| DISEASES 6424 \| SFRP4 \| 2.414 \| DISEASES 4088 \| SMAD3 \| 1.142 \| DISEASES 6483 \| ST3GAL2 \| 2.636 \| DISEASES 7042 \| TGFB2 \| 1.396 \| DISEASES 7046 \| TGFBR1 \| 1.557 \| DISEASES 7052 \| TGM2 \| 1.166 \| DISEASES 7124 \| TNF \| 1.66 \| DISEASES 7158 \| TP53BP1 \| 1.037 \| DISEASES 7247 \| TSN \| 1.929 \| DISEASES 7366 \| UGT2B15 \| 1.994 \| DISEASES 7465 \| WEE1 \| 1.243 \| DISEASES 6935 \| ZEB1 \| 2.022 \| DISEASES
Locus	(Waiting for update.)

Disease ID	131
Disease	oral submucous fibrosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0000160 \| Narrow mouth HP:0001371 \| Flexion contracture HP:0012182 \| Oropharyngeal squamous cell carcinoma HP:0000163 \| Abnormality of the oral cavity HP:0000211 \| Trismus HP:0000600 \| Abnormality of the pharynx HP:0100825 \| Cheilitis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0030731 \| Carcinoma \| 2 HP:0003712 \| Hypertrophic muscles \| 1 HP:0000211 \| Trismus \| 1

Disease ID	131
Disease	oral submucous fibrosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1608408 \| malignant transformation C1527383 \| morphoea C0234958 \| muscle degeneration C0031256 \| petechiae C0007137 \| squamous cell carcinoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0007137 \| squamous cell carcinoma \| 1

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:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000160	Narrow mouth	MP:0000452	abnormal mouth morphology	any structural anomaly of the oral cavity
HP:0000163	Abnormality of the oral cavity	MP:0009657	failure of chorioallantoic fusion	failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0012182	Oropharyngeal squamous cell carcinoma	MP:0008078	increased CD8-positive, alpha-beta T cell number	greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
HP:0000600	Abnormality of the pharynx	MP:0010732	abnormal node of Ranvier morphology	any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon

Mapped by homologous gene(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000160	Narrow mouth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000211	Trismus	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0100825	Cheilitis	MP:0013367	parotid gland inflammation	local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear
HP:0000163	Abnormality of the oral cavity	MP:0013501	increased fibroblast apoptosis	increase in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0001371	Flexion contracture	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0012182	Oropharyngeal squamous cell carcinoma	MP:0012431	increased lymphoma incidence	greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0000600	Abnormality of the pharynx	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	131
Disease	oral submucous fibrosis
Case	(Waiting for update.)

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