eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	bietti crystalline corneoretinal dystrophy

Disease ID	1627
Disease	bietti crystalline corneoretinal dystrophy
Synonym	bietti crystalline dystrophy bietti crystalline retinopathy bietti tapetoretinal degeneration with marginal corneal dystrophy bietti's crystalline corneoretinal dystrophy bietti's crystalline dystrophy bietti's crystalline retinopathy bietti's crystalline retinopathy (disorder)
Orphanet	ORPHANET:41751
OMIM	OMIM:210370
DOID	DOID:0050664
UMLS	C1859486
SNOMED-CT	SNOMEDCT_US_2016_09_01:312927001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0271051 \| macular edema \| 1 C0024440 \| cystoid macular edema \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 285440 \| CYP4V2 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:1) 285440 \| CYP4V2 \| 7.185 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1627
Disease	bietti crystalline corneoretinal dystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0040049 \| Macular edema \| 1 HP:0000969 \| Dropsy \| 1 HP:0011505 \| Cystoid macular edema \| 1

Disease ID	1627
Disease	bietti crystalline corneoretinal 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:38)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1055138	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2;FLJ38576	4	186191887	C	G
rs119103282	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2;FLJ38576	4	186191953	T	A,C
rs119103283	22605929	285440	CYP4V2	umls:C1859486	BeFree	The CYP4V2 p.I111T (c.332T>C) mutant allele may be especially prevalent among patients with BCD in Lebanon, resulting from a single founder.	0.484885954	2012	CYP4V2	4	186196007	T	C,G
rs119103283	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186196007	T	C,G
rs119103283	23538635	285440	CYP4V2	umls:C1859486	BeFree	Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.	0.484885954	2014	CYP4V2	4	186196007	T	C,G
rs119103284	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186210586	G	A
rs119103285	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2;FLJ38576	4	186192004	G	A
rs138444697	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186208972	C	T
rs144109267	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186209260	A	G
rs146494374	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186210508	C	A,T
rs149684063	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186196042	A	G
rs149684063	15042513	285440	CYP4V2	umls:C1859486	UNIPROT	Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.	0.484885954	2004	CYP4V2	4	186196042	A	G
rs199476182	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186194613	G	A
rs199476183	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186208863	A	G
rs199476184	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186209087	TGACAGCAGGTTACAG	-
rs199476185	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186194522	G	T
rs199476186	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186194538	C	T
rs199476187	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186194568	G	A
rs199476188	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186196010	T	G
rs199476189	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186196075	G	T
rs199476190	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186197044	T	G
rs199476191	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186197583	T	C
rs199476192	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186199041	-	A
rs199476193	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186199043	A	G
rs199476194	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186201313	C	T
rs199476195	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186201326	A	T
rs199476196	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186201329	C	T
rs199476197	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186205204	A	C
rs199476198	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186205232	G	A
rs199476199	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186205233	T	C
rs199476200	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186208931	A	C,G
rs199476201	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186208943	G	A
rs199476202	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186208961	C	T
rs199476203	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186208973	G	A,T
rs199476204	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186209215	C	T
rs199476205	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186210589	C	T
rs207482233	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	CYP4V2	4	186201149	TCATACAGGTCATCGCT	GC
rs797045181	NA	285440	CYP4V2	umls:C1859486	CLINVAR	NA	0.484885954	NA	KLKB1;CYP4V2	4	186209263	A	G

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	1627
Disease	bietti crystalline corneoretinal dystrophy
Case	(Waiting for update.)