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	cone dystrophy

Disease ID	1303
Disease	cone dystrophy
Definition	A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. - Wikipedia Reference: https://en.wikipedia.org/wiki/cone dystrophy
Synonym	cone dystrophy (disorder) dystrophy cone
Orphanet	ORPHANET:1871
DOID	DOID:0050795
UMLS	C0730290
SNOMED-CT	SNOMEDCT_US_2016_09_01:312917007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0175702 \| williams syndrome \| 1 C0007758 \| cerebellar ataxia \| 1 C0028738 \| nystagmus \| 1 C0027092 \| myopia \| 1 C0311338 \| fundus albipunctatus \| 1 C0752120 \| spinocerebellar ataxia type 1 \| 1 C0038379 \| strabismus \| 1 C0456909 \| blindness \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5959 \| RDH5 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:76) 24 \| ABCA4 \| 3.744 \| DISEASES 23746 \| AIPL1 \| 4.057 \| DISEASES 229 \| ALDOB \| 1.294 \| DISEASES 60489 \| APOBEC3G \| 2.628 \| DISEASES 408 \| ARRB1 \| 1.325 \| DISEASES 6314 \| ATXN7 \| 1.237 \| DISEASES 79738 \| BBS10 \| 3.067 \| DISEASES 617 \| BCS1L \| 1.104 \| DISEASES 7439 \| BEST1 \| 2.113 \| DISEASES 388939 \| C2orf71 \| 2.734 \| DISEASES 778 \| CACNA1F \| 2.428 \| DISEASES 93589 \| CACNA2D4 \| 2.695 \| DISEASES 801 \| CALM1 \| 1.622 \| DISEASES 92211 \| CDHR1 \| 3.603 \| DISEASES 80184 \| CEP290 \| 3.041 \| DISEASES 375298 \| CERKL \| 4.16 \| DISEASES 1121 \| CHM \| 1.416 \| DISEASES 1259 \| CNGA1 \| 2.701 \| DISEASES 57511 \| COG6 \| 2.546 \| DISEASES 23418 \| CRB1 \| 4.256 \| DISEASES 285440 \| CYP4V2 \| 2.532 \| DISEASES 6785 \| ELOVL4 \| 2.851 \| DISEASES 23265 \| EXOC7 \| 2.684 \| DISEASES 346007 \| EYS \| 3.01 \| DISEASES 84140 \| FAM161A \| 2.666 \| DISEASES 2296 \| FOXC1 \| 1.252 \| DISEASES 2524 \| FUT2 \| 1.089 \| DISEASES 6011 \| GRK1 \| 2.949 \| DISEASES 3166 \| HMX1 \| 1.379 \| DISEASES 3561 \| IL2RG \| 1.101 \| DISEASES 387755 \| INSC \| 1.982 \| DISEASES 3745 \| KCNB1 \| 2.656 \| DISEASES 169522 \| KCNV2 \| 6.619 \| DISEASES 9735 \| KNTC1 \| 1.38 \| DISEASES 3920 \| LAMP2 \| 1.056 \| DISEASES 167691 \| LCA5 \| 4.378 \| DISEASES 9227 \| LRAT \| 3.31 \| DISEASES 219541 \| MED19 \| 2.144 \| DISEASES 83552 \| MFRP \| 3.321 \| DISEASES 54903 \| MKS1 \| 2.452 \| DISEASES 4541 \| MT-ND6 \| 1.272 \| DISEASES 4647 \| MYO7A \| 1.338 \| DISEASES 4901 \| NRL \| 1.649 \| DISEASES 51559 \| NT5DC3 \| 3.199 \| DISEASES 60506 \| NYX \| 2.829 \| DISEASES 5956 \| OPN1LW \| 4.811 \| DISEASES 2652 \| OPN1MW \| 4.646 \| DISEASES 94233 \| OPN4 \| 1.68 \| DISEASES 65217 \| PCDH15 \| 1.743 \| DISEASES 5158 \| PDE6B \| 2.053 \| DISEASES 5146 \| PDE6C \| 3.282 \| DISEASES 9600 \| PITPNM1 \| 3.063 \| DISEASES 282809 \| POC1B \| 3.36 \| DISEASES 26121 \| PRPF31 \| 2.901 \| DISEASES 2185 \| PTK2B \| 2.214 \| DISEASES 5649 \| RELN \| 1.043 \| DISEASES 5995 \| RGR \| 3.104 \| DISEASES 388531 \| RGS9BP \| 4.266 \| DISEASES 22999 \| RIMS1 \| 2.538 \| DISEASES 6015 \| RING1 \| 1.824 \| DISEASES 55819 \| RNF130 \| 2.741 \| DISEASES 94137 \| RP1L1 \| 2.601 \| DISEASES 6103 \| RPGR \| 4.854 \| DISEASES 57096 \| RPGRIP1 \| 4.259 \| DISEASES 6295 \| SAG \| 1.728 \| DISEASES 10806 \| SDCCAG8 \| 2.275 \| DISEASES 51150 \| SDF4 \| 1.244 \| DISEASES 8671 \| SLC4A4 \| 1.366 \| DISEASES 55812 \| SPATA7 \| 2.986 \| DISEASES 22954 \| TRIM32 \| 1.951 \| DISEASES 4308 \| TRPM1 \| 1.822 \| DISEASES 7106 \| TSPAN4 \| 1.961 \| DISEASES 123016 \| TTC8 \| 3.236 \| DISEASES 254173 \| TTLL10 \| 3.462 \| DISEASES 7436 \| VLDLR \| 1.315 \| DISEASES 9278 \| ZBTB22 \| 1.509 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1303
Disease	cone dystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0000572 \| Visual loss \| 3 HP:0000662 \| Poor night vision \| 2 HP:0010815 \| Sebaceous naevus \| 1 HP:0030490 \| Exudative vitreoretinopathy \| 1 HP:0000529 \| Slowly progressive visual loss \| 1 HP:0000639 \| Nystagmus \| 1 HP:0001250 \| Seizures \| 1 HP:0000486 \| Squint eyes \| 1 HP:0000726 \| Dementia \| 1 HP:0007773 \| Vitreoretinopathy \| 1 HP:0000969 \| Dropsy \| 1 HP:0000545 \| Near sightedness \| 1 HP:0000618 \| Blindness \| 1 HP:0003764 \| Naevus \| 1 HP:0030642 \| Fundus albipunctatus \| 1 HP:0040049 \| Macular edema \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0001251 \| Ataxia \| 1 HP:0007401 \| Macular atrophy \| 1 HP:0007663 \| Central visual loss \| 1

Disease ID	1303
Disease	cone dystrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0311338 \| fundus albipunctatus
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0311338 \| fundus albipunctatus \| 1

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

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs149648640	21911584	169522	KCNV2	umls:C0730290	BeFree	Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.	0.002985861	2011	KCNV2	9	2729470	G	A,T
rs61755766	9052636	5630	PRPH	umls:C0730290	BeFree	Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.	0.000271442	1997	PRPH2	6	42722255	G	A
rs61755766	9052636	5961	PRPH2	umls:C0730290	BeFree	Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.	0.000271442	1997	PRPH2	6	42722255	G	A

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	1303
Disease	cone dystrophy
Case	(Waiting for update.)

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