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encyclopedia of Rare Disease Annotation for Precision Medicine

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	colorblindness, tritan

Disease ID	1784
Disease	colorblindness, tritan
Synonym	blue color blindness blue colorblindness blue yellow color blindness blue-yellow dyschromatopsia color blindness, blue colorblindness, tritanopic dyschromatopsia, blue-yellow tritan defect tritan defect (disorder) tritanomaly tritanopia tritanopia (disorder)
Orphanet	ORPHANET:88629
OMIM	OMIM:190900
DOID	DOID:11661
ICD10	ICD10CM:H53.55
UMLS	C1412770
SNOMED-CT	SNOMEDCT_US_2016_09_01:51886007;SNOMEDCT_US_2016_09_01:85049009
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 611 \| OPN1SW \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 611 \| OPN1SW \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:8) 199 \| AIF1 \| 2.578 \| DISEASES 655 \| BMP7 \| 2.66 \| DISEASES 656 \| BMP8B \| 4.022 \| DISEASES 4538 \| MT-ND4 \| 2.56 \| DISEASES 8481 \| OFD1 \| 3.946 \| DISEASES 8654 \| PDE5A \| 2.249 \| DISEASES 6622 \| SNCA \| 1.621 \| DISEASES 6651 \| SON \| 4.509 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1784
Disease	colorblindness, tritan
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0008275 \| Abnormal cone-mediated electroretinogram HP:0000552 \| Dyschromatopsia, blue-yellow
Text Mined Phenotype	(Waiting for update.)

Disease ID	1784
Disease	colorblindness, tritan
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:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894031	1531728	611	OPN1SW	umls:C0155017	UNIPROT	Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.	0.482638474	1992	OPN1SW	7	128775556	C	T
rs104894031	NA	611	OPN1SW	umls:C0155017	CLINVAR	NA	0.482638474	NA	OPN1SW	7	128775556	C	T
rs104894032	NA	611	OPN1SW	umls:C0155017	CLINVAR	NA	0.482638474	NA	OPN1SW	7	128774545	A	G,C
rs104894033	NA	611	OPN1SW	umls:C0155017	CLINVAR	NA	0.482638474	NA	OPN1SW;CALU	7	128773786	G	A

GWASdb Annotation(Total Genotypes:1)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
7	128415195	rs1799922	NM_001708,OPN1SW	ENST00000249389,ENSG00000128617	TFP.BCL3	TFP.FOSL2	MCV-10	NA	NA	NA	Cbf1-primary,1.419	Cutl1_3494,1.684	Hmbox1_2674,7.402	Tcf2_0913,1.7699	v-ErbA,2.0131	NA	NA	NA	NA	NA	NA	0.998	0.438	0.817	GE2	G	NA	NA	NA	NA	NA	NA	NA	NA	CodingTranscript	SYNONYMOUS	489

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:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000552	Tritanomaly	MP:0014059	abnormal photoreceptor connecting cilium morphology	any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0008275	Abnormal light-adapted electroretinogram	MP:0008587	short photoreceptor outer segment	decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin

Disease ID	1784
Disease	colorblindness, tritan
Case	(Waiting for update.)

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