PedAM

Pediatric Disease Annotations & Medicines


	cataract 7

Disease ID	1096
Disease	cataract 7
Definition	Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. [HPO:probinson, pmid:19496508, pmid:9158139]
Synonym	cataract 7, cerulean type cataract, congenital cerulean cataract, congenital, blue dot type 1 cataract, congenital, blue dot type, 1 cataract, congenital, cerulean cataract, congenital, cerulean type 1 cataract, congenital, cerulean type, 1 cataracts, congenital, cerulean cca1 cerulean cataract congenital blue dot cataract congenital blue dot cataract (disorder) ctrct7
Orphanet	ORPHANET:98989
OMIM	OMIM:115660
UMLS	C0344523
SNOMED-CT	SNOMEDCT_US_2016_09_01:204138006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) MAF \| 4094 \| ORPHANET MIP \| 4284 \| ORPHANET CRYBB2 \| 1415 \| CTD_human;ORPHANET CRYGD \| 1421 \| ORPHANET CCA1 \| 878 \| CTD_human;OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:73) 11345 \| GABARAPL2 \| DISEASES 55512 \| SMPD3 \| DISEASES 15 \| AANAT \| DISEASES 51095 \| TRNT1 \| DISEASES 1327 \| COX4I1 \| DISEASES 8500 \| PPFIA1 \| DISEASES 6610 \| SMPD2 \| DISEASES 2201 \| FBN2 \| DISEASES 1459 \| CSNK2A2 \| DISEASES 6598 \| SMARCB1 \| DISEASES 8424 \| BBOX1 \| DISEASES 4811 \| NID1 \| DISEASES 590 \| BCHE \| DISEASES 23710 \| GABARAPL1 \| DISEASES 5925 \| RB1 \| DISEASES 80119 \| PIF1 \| DISEASES 2495 \| FTH1 \| DISEASES 6872 \| TAF1 \| DISEASES 55294 \| FBXW7 \| DISEASES 64422 \| ATG3 \| DISEASES 1409 \| CRYAA \| DISEASES 6010 \| RHO \| DISEASES 2619 \| GAS1 \| DISEASES 1642 \| DDB1 \| DISEASES 3960 \| LGALS4 \| DISEASES 2990 \| GUSB \| DISEASES 8988 \| HSPB3 \| DISEASES 29984 \| RHOD \| DISEASES 9575 \| CLOCK \| DISEASES 2000 \| ELF4 \| DISEASES 26986 \| PABPC1 \| DISEASES 84232 \| MAF1 \| DISEASES 54802 \| TRIT1 \| DISEASES 341416 \| OR6C2 \| DISEASES 3909 \| LAMA3 \| DISEASES 8408 \| ULK1 \| DISEASES 80758 \| PRR7 \| DISEASES 125061 \| AFMID \| DISEASES 441669 \| OR4Q3 \| DISEASES 2185 \| PTK2B \| DISEASES 10013 \| HDAC6 \| DISEASES 2152 \| F3 \| DISEASES 26740 \| OR1J2 \| DISEASES 8541 \| PPFIA3 \| DISEASES 859 \| CAV3 \| DISEASES 875 \| CBS \| DISEASES 10019 \| SH2B3 \| DISEASES 55621 \| TRMT1 \| DISEASES 404552 \| SCGB1D4 \| DISEASES 81050 \| OR5AC2 \| DISEASES 1999 \| ELF3 \| DISEASES 1312 \| COMT \| DISEASES 1660 \| DHX9 \| DISEASES 6446 \| SGK1 \| DISEASES 4881 \| NPR1 \| DISEASES 574414 \| PRR9 \| DISEASES 22823 \| MTF2 \| DISEASES 92714 \| ARRDC1 \| DISEASES 84890 \| ADO \| DISEASES 26147 \| PHF19 \| DISEASES 254786 \| OR6C3 \| DISEASES 5555 \| PRH2 \| DISEASES 7306 \| TYRP1 \| DISEASES 55615 \| PRR5 \| DISEASES 6295 \| SAG \| DISEASES 2313 \| FLI1 \| DISEASES 1408 \| CRY2 \| DISEASES 408 \| ARRB1 \| DISEASES 5554 \| PRH1 \| DISEASES 6949 \| TCOF1 \| DISEASES 285782 \| CAGE1 \| DISEASES 25804 \| LSM4 \| DISEASES 6023 \| RMRP \| DISEASES
Locus	(Waiting for update.)

Disease ID	1096
Disease	cataract 7
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0000572 \| Visual loss HP:0000519 \| Cataracts, lenticular, bilateral
Text Mined Phenotype	(Waiting for update.)

Disease ID	1096
Disease	cataract 7
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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
rs121917735	25064449	4094	MAF	umls:C0344523	BeFree	MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome).	0.120542884	2014	MAF;LOC101928230	16	79599040	C	T,G
rs121917736	25064449	4094	MAF	umls:C0344523	BeFree	MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome).	0.120542884	2014	MAF;LOC101928230	16	79599013	T	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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics