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	fuchs endothelial corneal dystrophy

Disease ID	843
Disease	fuchs endothelial corneal dystrophy
Definition	Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.
Synonym	corneal dystrophies fuchs corneal dystrophy fuchs dystrophia epithelialis corneae dystrophy fuch dystrophy fuchs dystrophy, fuch's endothelial dystrophy, fuchs' endothelial endothelial dystrophy, fuch's endothelial dystrophy, fuchs' fuch endothelial dystrophy fuch's endothelial corneal dystrophy fuch's endothelial dystrophy fuchs atrophy fuchs corneal dystrophy fuchs dystrophy fuchs endothelial dystrophy fuchs' corneal dystrophy fuchs' corneal dystrophy (disorder) fuchs' dystrophy fuchs' endothelial dystrophy fuchs' endothelial dystrophy [disease/finding]
Orphanet	ORPHANET:98974
DOID	DOID:11555
UMLS	C0016781
MeSH	D005642
SNOMED-CT	SNOMEDCT_US_2016_09_01:193839007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0010037 \| corneal edema \| 4 C0155111 \| bullous keratopathy \| 2 C0235270 \| keratopathy \| 1 C0086543 \| cataract \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 5793 \| PTPRG \| CIPHER 6925 \| TCF4 \| CIPHER 1296 \| COL8A2 \| CIPHER 149233 \| IL23R \| CIPHER 83959 \| SLC4A11 \| CIPHER 6935 \| ZEB1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:72) 123624 \| AGBL1 \| 4.522 \| DISEASES 375790 \| AGRN \| 1.294 \| DISEASES 481 \| ATP1B1 \| 2.535 \| DISEASES 799 \| CALCR \| 1.341 \| DISEASES 388372 \| CCL4L1 \| 1.678 \| DISEASES 9560 \| CCL4L2 \| 1.488 \| DISEASES 1282 \| COL4A1 \| 2.354 \| DISEASES 1284 \| COL4A2 \| 1.821 \| DISEASES 1285 \| COL4A3 \| 1.165 \| DISEASES 1286 \| COL4A4 \| 1.503 \| DISEASES 1289 \| COL5A1 \| 1.919 \| DISEASES 1429 \| CRYZ \| 1.4 \| DISEASES 1538 \| CYLC1 \| 2.989 \| DISEASES 1660 \| DHX9 \| 1.512 \| DISEASES 1805 \| DPT \| 2.355 \| DISEASES 23201 \| FAM168A \| 3.012 \| DISEASES 10447 \| FAM3C \| 2.53 \| DISEASES 2199 \| FBLN2 \| 2.279 \| DISEASES 2254 \| FGF9 \| 1.793 \| DISEASES 2996 \| GYPE \| 1.546 \| DISEASES 8350 \| HIST1H3A \| 2.46 \| DISEASES 8352 \| HIST1H3C \| 2.247 \| DISEASES 8351 \| HIST1H3D \| 2.46 \| DISEASES 8353 \| HIST1H3E \| 2.252 \| DISEASES 8968 \| HIST1H3F \| 2.46 \| DISEASES 8355 \| HIST1H3G \| 2.46 \| DISEASES 8357 \| HIST1H3H \| 2.46 \| DISEASES 8354 \| HIST1H3I \| 2.46 \| DISEASES 8356 \| HIST1H3J \| 2.25 \| DISEASES 8359 \| HIST1H4A \| 1.063 \| DISEASES 8366 \| HIST1H4B \| 1.063 \| DISEASES 8364 \| HIST1H4C \| 1.063 \| DISEASES 8360 \| HIST1H4D \| 1.062 \| DISEASES 8367 \| HIST1H4E \| 1.063 \| DISEASES 8361 \| HIST1H4F \| 1.063 \| DISEASES 8294 \| HIST1H4I \| 1.063 \| DISEASES 8363 \| HIST1H4J \| 1.063 \| DISEASES 8362 \| HIST1H4K \| 1.063 \| DISEASES 8368 \| HIST1H4L \| 1.063 \| DISEASES 8370 \| HIST2H4A \| 1.063 \| DISEASES 554313 \| HIST2H4B \| 1.063 \| DISEASES 121504 \| HIST4H4 \| 1.063 \| DISEASES 3309 \| HSPA5 \| 1.683 \| DISEASES 3397 \| ID1 \| 1.104 \| DISEASES 10581 \| IFITM2 \| 1.688 \| DISEASES 100423062 \| IGLL5 \| 1.598 \| DISEASES 3612 \| IMPA1 \| 2.304 \| DISEASES 9358 \| ITGBL1 \| 3.389 \| DISEASES 284359 \| IZUMO1 \| 2.226 \| DISEASES 163782 \| KANK4 \| 3.558 \| DISEASES 3855 \| KRT7 \| 1.006 \| DISEASES 3980 \| LIG3 \| 1.209 \| DISEASES 101978719 \| LINC00970 \| 4.44 \| DISEASES 28985 \| MCTS1 \| 3.438 \| DISEASES 79661 \| NEIL1 \| 2.202 \| DISEASES 4780 \| NFE2L2 \| 2.053 \| DISEASES 4926 \| NUMA1 \| 1.081 \| DISEASES 11315 \| PARK7 \| 1.654 \| DISEASES 10846 \| PDE10A \| 1.674 \| DISEASES 11168 \| PSIP1 \| 1.66 \| DISEASES 5793 \| PTPRG \| 3.803 \| DISEASES 6222 \| RPS18 \| 2.379 \| DISEASES 6232 \| RPS27 \| 2.651 \| DISEASES 6235 \| RPS29 \| 2.933 \| DISEASES 374897 \| SBSN \| 3.292 \| DISEASES 64078 \| SLC28A3 \| 2.165 \| DISEASES 83959 \| SLC4A11 \| 6.468 \| DISEASES 6925 \| TCF4 \| 4.802 \| DISEASES 7045 \| TGFBI \| 3.316 \| DISEASES 30813 \| VSX1 \| 3.117 \| DISEASES 6935 \| ZEB1 \| 4.389 \| DISEASES 84627 \| ZNF469 \| 2.414 \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) TCF4 \| 18q21.2 SLC4A11 \| 20p13 ZEB1 \| 10p11.22 AGBL1 \| 15q25.3 COL8A2 \| 1p34.3

Disease ID	843
Disease	fuchs endothelial corneal dystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000969 \| Dropsy \| 4 HP:0000572 \| Visual loss \| 1 HP:0000518 \| Cataract \| 1 HP:0012038 \| Corneal endothelial guttata \| 1 HP:0000505 \| Poor vision \| 1

Disease ID	843
Disease	fuchs endothelial corneal dystrophy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0155111 \| bullous keratopathy \| 1

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

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10490775	20825314	5793	PTPRG	umls:C0016781	GAD	[Genetic variation in TCF4 contributes to the development of FCD. (Funded by the National Eye Institute and others.)]	0.002909916	2010	PTPRG	3	62051050	C	T
rs17089887	25342617	6934	TCF7L2	umls:C0016781	BeFree	Genetic association of TCF4 intronic polymorphisms, CTG18.1 and rs17089887, with Fuchs' endothelial corneal dystrophy in an Indian population.	0.005157396	2015	TCF4	18	55541025	T	C
rs613872	20825314	6925	TCF4	umls:C0016781	GAD	[Genetic variation in TCF4 contributes to the development of FCD. (Funded by the National Eye Institute and others.)]	0.007795869	2010	TCF4	18	55543071	G	T
rs613872	22146553	6925	TCF4	umls:C0016781	BeFree	To identify early features of Fuchs endothelial dystrophy (FED) in carriers of the rs613872(G) transcription factor 4 gene (TCF4) aged 20 to 21 years.	0.007795869	2012	TCF4	18	55543071	G	T
rs613872	21533127	6934	TCF7L2	umls:C0016781	BeFree	In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies.	0.005157396	2011	TCF4	18	55543071	G	T
rs80358191	22956607	1296	COL8A2	umls:C0016781	BeFree	The present study used a transgenic Col8a2(Q455K/Q455K) knock-in mouse model of early-onset FECD to identify the endothelial expression profile of specific cellular stress response-related targets, which may be relevant to late-onset FECD.	0.006167218	2012	COL8A2	1	36098318	G	T
rs80358192	16303941	1296	COL8A2	umls:C0016781	BeFree	In the L450W mutant, Descemet's membrane was several times thicker than normal and traversed by refractile strands and blebs that stained intensely for COL8A2, a feature also observed in late-onset FCD.	0.006167218	2005	COL8A2	1	36098332	A	G,C
rs80358192	17471329	1296	COL8A2	umls:C0016781	BeFree	Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.	0.006167218	2006	COL8A2	1	36098332	A	G,C

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	843
Disease	fuchs endothelial corneal dystrophy
Case	(Waiting for update.)

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