PedAM

Pediatric Disease Annotations & Medicines


	color vision deficiency

Disease ID	1587
Disease	color vision deficiency
Definition	Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.
Synonym	color blindness, nos color vision defect color vision defects color vision defects [disease/finding] color vision deficiency (disorder) color vision deficiency (disorder) [ambiguous] color vision deficiency [dup] (disorder) color vision deficiency, nos colour blindness, nos colour vision deficiency colour vision deficiency (disorder) colour vision deficiency, nos defect, color vision defects, color vision vision defect, color vision defects, color
DOID	DOID:11662 DOID:13399
UMLS	C0009398
MeSH	D003117
SNOMED-CT	SNOMEDCT_US_2016_09_01:367469000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0034951 \| refractive error \| 1 C0034951 \| refractive errors \| 1 C0017601 \| glaucoma \| 1 C0149931 \| migraine \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) GNAT2 \| 2780 \| CTD_human ATF6 \| 22926 \| CTD_human PDE6H \| 5149 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1587
Disease	color vision deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002076 \| Migraine headaches \| 1 HP:0000501 \| Glaucoma \| 1

Disease ID	1587
Disease	color vision deficiency
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:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894031	23022137	611	OPN1SW	umls:C0009398	BeFree	Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency.	0.002995792	2012	OPN1SW	7	128775556	C	T
rs104894032	23022137	611	OPN1SW	umls:C0009398	BeFree	Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency.	0.002995792	2012	OPN1SW	7	128774545	A	G,C
rs104894033	23022137	611	OPN1SW	umls:C0009398	BeFree	Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency.	0.002995792	2012	OPN1SW;CALU	7	128773786	G	A
rs377490003	23022137	611	OPN1SW	umls:C0009398	BeFree	Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency.	0.002995792	2012	OPN1SW	7	128775624	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.)

Chemical(Total Drugs:17)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0009398	carbamazepine	D002220	298-46-4	color vision defects	MESH:D003117	marker/mechanism	10343150
C0009398	chloroquine	D002738	1954/5/7	color vision defects	MESH:D003117	marker/mechanism	10485553
C0009398	ciprofloxacin	D002939	85721-33-1	color vision defects	MESH:D003117	marker/mechanism	17300586
C0009398	digoxin	D004077	20830-75-5	color vision defects	MESH:D003117	marker/mechanism	12386084
C0009398	ethambutol	D004977	74-55-5	color vision defects	MESH:D003117	marker/mechanism	1178150
C0009398	folic acid	D005492	59-30-3	color vision defects	MESH:D003117	therapeutic	15937433
C0009398	linezolid	D000069349	-	color vision defects	MESH:D003117	marker/mechanism	24088636
C0009398	meprobamate	D008620	57-53-4	color vision defects	MESH:D003117	marker/mechanism	3489028
C0009398	methotrexate	D008727	1959/5/2	color vision defects	MESH:D003117	marker/mechanism	15937433
C0009398	minoxidil	D008914	38304-91-5	color vision defects	MESH:D003117	marker/mechanism	2256586
C0009398	peginterferon alfa-2b	C417083	-	color vision defects	MESH:D003117	marker/mechanism	15316341
C0009398	phenytoin	D010672	57-41-0	color vision defects	MESH:D003117	marker/mechanism	10343150
C0009398	ribavirin	D012254	36791-04-5	color vision defects	MESH:D003117	marker/mechanism	15316341
C0009398	tranexamic acid	D014148	1197-18-8	color vision defects	MESH:D003117	marker/mechanism	17122592
C0009398	tridihexethyl	C005386	60-49-1	color vision defects	MESH:D003117	marker/mechanism	3489028
C0009398	valproic acid	D014635	99-66-1	color vision defects	MESH:D003117	marker/mechanism	15939631
C0009398	vigabatrin	D020888	60643-86-9	color vision defects	MESH:D003117	marker/mechanism	10811079

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

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

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