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	fleck corneal dystrophy

Disease ID	1260
Disease	fleck corneal dystrophy
Definition	Fleck corneal dystrophy, also known as Francois-Neetens speckled corneal dystrophy, is a rare form of corneal dystrophy. It is caused by mutations in PIKFYVE gene. Small opacities, some of which resemble flecks, are scattered in the stroma of the patients. Other opacities look more like snowflakes or clouds. The disease is non-progressive and in most cases asymptomatic, with mild photophobia reported by some patients. In a single case report, a corneal transplantation was performed for concurrent keratoconus, and at 10 years follow-up there was still no evidence of the inclusions in the stroma.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/fleck corneal dystrophy
Synonym	cfd corneal dystrophy, fleck corneal dystrophy, francois-neetens speckled or flecked fcd fleck corneal dystrophy (disorder)
Orphanet	ORPHANET:98970
OMIM	OMIM:121850 OMIM:134350
DOID	DOID:0060448
UMLS	C1562113
SNOMED-CT	SNOMEDCT_US_2016_09_01:417183007
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 200576 \| PIKFYVE \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:61) 4363 \| ABCC1 \| 1.228 \| DISEASES 65057 \| ACD \| 2.356 \| DISEASES 375790 \| AGRN \| 1.643 \| DISEASES 64400 \| AKTIP \| 1.709 \| DISEASES 63827 \| BCAN \| 2.503 \| DISEASES 282991 \| BLOC1S2 \| 1.265 \| DISEASES 4345 \| CD200 \| 1.591 \| DISEASES 961 \| CD47 \| 1.445 \| DISEASES 1028 \| CDKN1C \| 1.208 \| DISEASES 1267 \| CNP \| 2.342 \| DISEASES 1312 \| COMT \| 1.587 \| DISEASES 1523 \| CUX1 \| 1.876 \| DISEASES 1641 \| DCX \| 1.215 \| DISEASES 9681 \| DEPDC5 \| 2.565 \| DISEASES 2115 \| ETV1 \| 1.754 \| DISEASES 2199 \| FBLN2 \| 2.628 \| DISEASES 2290 \| FOXG1 \| 1.592 \| DISEASES 2673 \| GFPT1 \| 1.366 \| DISEASES 2900 \| GRIK4 \| 2.39 \| DISEASES 54363 \| HAO1 \| 2.226 \| DISEASES 11255 \| HRH3 \| 2 \| DISEASES 3347 \| HTN3 \| 1.88 \| DISEASES 9118 \| INA \| 2.345 \| DISEASES 3712 \| IVD \| 1.267 \| DISEASES 10656 \| KHDRBS3 \| 4.07 \| DISEASES 4133 \| MAP2 \| 2.16 \| DISEASES 4534 \| MTM1 \| 1.545 \| DISEASES 8898 \| MTMR2 \| 2.221 \| DISEASES 2475 \| MTOR \| 2.262 \| DISEASES 10763 \| NES \| 2.52 \| DISEASES 4916 \| NTRK3 \| 1.337 \| DISEASES 10215 \| OLIG2 \| 1.462 \| DISEASES 26740 \| OR1J2 \| 4.091 \| DISEASES 5027 \| P2RX7 \| 1.24 \| DISEASES 5069 \| PAPPA \| 1.04 \| DISEASES 11315 \| PARK7 \| 1 \| DISEASES 5333 \| PLCD1 \| 2.769 \| DISEASES 5793 \| PTPRG \| 3.562 \| DISEASES 2889 \| RAPGEF1 \| 1.8 \| DISEASES 6218 \| RPS17 \| 2.603 \| DISEASES 6275 \| S100A4 \| 1.052 \| DISEASES 6390 \| SDHB \| 1.029 \| DISEASES 6391 \| SDHC \| 1.203 \| DISEASES 6392 \| SDHD \| 1.093 \| DISEASES 27244 \| SESN1 \| 2.839 \| DISEASES 140885 \| SIRPA \| 1.749 \| DISEASES 57468 \| SLC12A5 \| 1.962 \| DISEASES 23583 \| SMUG1 \| 1.269 \| DISEASES 6658 \| SOX3 \| 2.101 \| DISEASES 6708 \| SPTA1 \| 2.348 \| DISEASES 6736 \| SRY \| 1.583 \| DISEASES 9900 \| SV2A \| 1.852 \| DISEASES 6892 \| TAPBP \| 1.888 \| DISEASES 6904 \| TBCD \| 2.899 \| DISEASES 10716 \| TBR1 \| 2.52 \| DISEASES 6925 \| TCF4 \| 1.527 \| DISEASES 26136 \| TES \| 1.669 \| DISEASES 7045 \| TGFBI \| 1.407 \| DISEASES 7223 \| TRPC4 \| 2.478 \| DISEASES 10381 \| TUBB3 \| 1.415 \| DISEASES 53349 \| ZFYVE1 \| 2.995 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PIKFYVE \| 2q34

Disease ID	1260
Disease	fleck corneal dystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1260
Disease	fleck corneal dystrophy
Manually Symptom	(Waiting for update.)
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:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918336	NA	200576	PIKFYVE	umls:C1562113	CLINVAR	NA	0.480814326	NA	PIKFYVE	2	208326119	A	G
rs121918337	NA	200576	PIKFYVE	umls:C1562113	CLINVAR	NA	0.480814326	NA	PIKFYVE	2	208325773	C	T
rs387907335	NA	200576	PIKFYVE	umls:C1562113	CLINVAR	NA	0.480814326	NA	PIKFYVE	2	208335330	AGTA	-

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	1260
Disease	fleck corneal dystrophy
Case	(Waiting for update.)

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