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encyclopedia of Rare Disease Annotation for Precision Medicine

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	fundus albipunctatus

Disease ID	372
Disease	fundus albipunctatus
Synonym	albipunctate retinal dystrophy lauber's disease pigment retina dystrophy pigmentary retinal dystrophy pigmentary retinal dystrophy (disorder) retinal dystrophy, albipunctate retinal pigmentary dystrophy
Orphanet	ORPHANET:227796
OMIM	OMIM:136880
DOID	DOID:11105
ICD10	ICD10CM:H35.52
UMLS	C0311338
SNOMED-CT	SNOMEDCT_US_2016_09_01:68222009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0311338 \| pigmentary retinal dystrophy \| 2 C0017601 \| glaucoma \| 1 C0017605 \| angle-closure glaucoma \| 1 C0730290 \| cone dystrophy \| 1 C0456909 \| blindness \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 5961 \| PRPH2 \| CTD_human;ORPHANET 6010 \| RHO \| CTD_human;ORPHANET 6017 \| RLBP1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 5959 \| RDH5 \| CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 5959 \| RDH5 \| CIPHER;CTD_human 5961 \| PRPH2 \| CTD_human 6010 \| RHO \| CTD_human 6017 \| RLBP1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:13) 778 \| CACNA1F \| 3.246 \| DISEASES 23418 \| CRB1 \| 3.181 \| DISEASES 285440 \| CYP4V2 \| 2.392 \| DISEASES 6011 \| GRK1 \| 3.722 \| DISEASES 3778 \| KCNMA1 \| 1.896 \| DISEASES 9227 \| LRAT \| 4.083 \| DISEASES 10724 \| MGEA5 \| 1.141 \| DISEASES 60506 \| NYX \| 2.689 \| DISEASES 5158 \| PDE6B \| 1.87 \| DISEASES 5322 \| PLA2G5 \| 3.506 \| DISEASES 51109 \| RDH11 \| 2.332 \| DISEASES 6247 \| RS1 \| 2.412 \| DISEASES 6295 \| SAG \| 2.546 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) RDH5 \| 12q13.2 RLBP1 \| 15q26.1 PRPH2 \| 6p21.1

Disease ID	372
Disease	fundus albipunctatus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000501 \| Glaucoma \| 1 HP:0000618 \| Blindness \| 1 HP:0012152 \| Retinoschisis involving the fovea \| 1

Disease ID	372
Disease	fundus albipunctatus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0730290 \| cone dystrophy C0028077 \| night blindness
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0730290 \| cone dystrophy \| 1

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

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

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853290	NA	6017	RLBP1	umls:C0311338	CLINVAR	NA	0.480542884	NA	RLBP1	15	89215133	C	T,G
rs369588426	15007239	5959	RDH5	umls:C0311338	BeFree	A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.	0.37497291	2004	BLOC1S1;RDH5;BLOC1S1-RDH5	12	55719191	G	A
rs62638187	11053295	5959	RDH5	umls:C0311338	UNIPROT	A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.	0.37497291	2000	RDH5;BLOC1S1-RDH5	12	55721772	G	A,C,T
rs62638191	10369264	5959	RDH5	umls:C0311338	UNIPROT	Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.	0.37497291	1999	RDH5;BLOC1S1-RDH5	12	55724028	G	A,C,T

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	372
Disease	fundus albipunctatus
Case	(Waiting for update.)

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