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	night blindness

Disease ID	1382
Disease	night blindness
Definition	Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)
Synonym	blindness night blindness, night difficulty seeing at night loss night vision night blindness (disorder) night blindness [disease/finding] night blindness nos night blindness nos (disorder) night blindness, nos night blindness, unspecified night vision loss night-blindness nyctalopia poor night vision unspecified night blindness unspecified night blindness (disorder) vision loss night
DOID	DOID:8499
ICD10	ICD10CM:H53.60
UMLS	C0028077
MeSH	D009755
SNOMED-CT	SNOMEDCT_US_2016_09_01:65194006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0028738 \| nystagmus \| 2 C0035304 \| retinal degeneration \| 2 C0162429 \| malnourished \| 1 C0456909 \| vision loss \| 1 C0035309 \| retinopathy \| 1 C0002418 \| amblyopia \| 1 C0043349 \| xerophthalmia \| 1 C0035333 \| retinitis \| 1 C0035334 \| retinitis pigmentosa \| 1 C0036454 \| visual field loss \| 1 C0730290 \| cone dystrophy \| 1 C0029128 \| optic disc drusen \| 1 C0036992 \| short bowel syndrome \| 1 C0001175 \| acquired immunodeficiency syndrome \| 1 C0029001 \| onchocerciasis \| 1 C0311338 \| fundus albipunctatus \| 1 C0870082 \| hyperkeratosis \| 1 C0035334 \| pigmentary retinopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 6295 \| SAG \| UniProtKB-KW 6011 \| GRK1 \| UniProtKB-KW 4901 \| NRL \| CTD_human 5158 \| PDE6B \| UniProtKB-KW 9187 \| SLC24A1 \| UniProtKB-KW 6010 \| RHO \| UniProtKB-KW 60506 \| NYX \| UniProtKB-KW 778 \| CACNA1F \| UniProtKB-KW 2916 \| GRM6 \| UniProtKB-KW 4308 \| TRPM1 \| UniProtKB-KW 2779 \| GNAT1 \| UniProtKB-KW 345193 \| LRIT3 \| UniProtKB-KW 440435 \| GPR179 \| UniProtKB-KW 2784 \| GNB3 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:110) 24 \| ABCA4 \| 3.287 \| DISEASES 60509 \| AGBL5 \| 2.865 \| DISEASES 23746 \| AIPL1 \| 2.898 \| DISEASES 369 \| ARAF \| 1.402 \| DISEASES 340075 \| ARSI \| 2.09 \| DISEASES 6314 \| ATXN7 \| 1.67 \| DISEASES 656 \| BMP8B \| 1.719 \| DISEASES 388939 \| C2orf71 \| 2.299 \| DISEASES 57010 \| CABP4 \| 5.722 \| DISEASES 778 \| CACNA1F \| 7.245 \| DISEASES 779 \| CACNA1S \| 1.292 \| DISEASES 55799 \| CACNA2D3 \| 2.326 \| DISEASES 93589 \| CACNA2D4 \| 4.153 \| DISEASES 27101 \| CACYBP \| 1.815 \| DISEASES 801 \| CALM1 \| 1.188 \| DISEASES 285331 \| CCDC66 \| 3.036 \| DISEASES 92211 \| CDHR1 \| 2.211 \| DISEASES 80184 \| CEP290 \| 1.089 \| DISEASES 375298 \| CERKL \| 2.148 \| DISEASES 1121 \| CHM \| 3.204 \| DISEASES 1139 \| CHRNA7 \| 2.068 \| DISEASES 1184 \| CLCN5 \| 1.749 \| DISEASES 1201 \| CLN3 \| 1.221 \| DISEASES 7401 \| CLRN1 \| 1.992 \| DISEASES 1259 \| CNGA1 \| 3.783 \| DISEASES 1382 \| CRABP2 \| 1.168 \| DISEASES 23418 \| CRB1 \| 3.416 \| DISEASES 9946 \| CRYZL1 \| 2.961 \| DISEASES 10106 \| CTDSP2 \| 2.079 \| DISEASES 285440 \| CYP4V2 \| 4.033 \| DISEASES 1756 \| DMD \| 1.121 \| DISEASES 1805 \| DPT \| 1.319 \| DISEASES 346007 \| EYS \| 3.555 \| DISEASES 84140 \| FAM161A \| 2.231 \| DISEASES 9846 \| GAB2 \| 1.067 \| DISEASES 2773 \| GNAI3 \| 2.15 \| DISEASES 57512 \| GPR158 \| 3.069 \| DISEASES 440435 \| GPR179 \| 5.967 \| DISEASES 2857 \| GPR34 \| 2.78 \| DISEASES 2897 \| GRIK1 \| 1.348 \| DISEASES 6011 \| GRK1 \| 5.22 \| DISEASES 2869 \| GRK5 \| 1.766 \| DISEASES 2913 \| GRM3 \| 1.179 \| DISEASES 3109 \| HLA-DMB \| 1.142 \| DISEASES 3347 \| HTN3 \| 1.056 \| DISEASES 9742 \| IFT140 \| 2.112 \| DISEASES 3614 \| IMPDH1 \| 1.482 \| DISEASES 9735 \| KNTC1 \| 1.321 \| DISEASES 167691 \| LCA5 \| 3.009 \| DISEASES 3996 \| LLGL1 \| 1.073 \| DISEASES 9227 \| LRAT \| 2.007 \| DISEASES 345193 \| LRIT3 \| 5.503 \| DISEASES 83552 \| MFRP \| 2.341 \| DISEASES 8972 \| MGAM \| 1.02 \| DISEASES 54893 \| MTMR10 \| 2.953 \| DISEASES 4604 \| MYBPC1 \| 2.405 \| DISEASES 4647 \| MYO7A \| 2.451 \| DISEASES 4857 \| NOVA1 \| 1.932 \| DISEASES 4901 \| NRL \| 3.365 \| DISEASES 4905 \| NSF \| 1.438 \| DISEASES 60506 \| NYX \| 7.398 \| DISEASES 4952 \| OCRL \| 1.012 \| DISEASES 8481 \| OFD1 \| 1.554 \| DISEASES 118427 \| OLFM3 \| 2.824 \| DISEASES 94233 \| OPN4 \| 1.156 \| DISEASES 5015 \| OTX2 \| 1.032 \| DISEASES 11240 \| PADI2 \| 1.277 \| DISEASES 5158 \| PDE6B \| 4.344 \| DISEASES 5146 \| PDE6C \| 1.845 \| DISEASES 5148 \| PDE6G \| 2.491 \| DISEASES 5322 \| PLA2G5 \| 2.298 \| DISEASES 282809 \| POC1B \| 2.925 \| DISEASES 5504 \| PPP1R2 \| 2.847 \| DISEASES 56978 \| PRDM8 \| 2.926 \| DISEASES 4007 \| PRICKLE3 \| 3.509 \| DISEASES 26121 \| PRPF31 \| 3.378 \| DISEASES 5950 \| RBP4 \| 1.805 \| DISEASES 25898 \| RCHY1 \| 1.501 \| DISEASES 8786 \| RGS11 \| 4.5 \| DISEASES 6000 \| RGS7 \| 3.913 \| DISEASES 388531 \| RGS9BP \| 2.918 \| DISEASES 22999 \| RIMS1 \| 2.014 \| DISEASES 6015 \| RING1 \| 1.389 \| DISEASES 6103 \| RPGR \| 4.22 \| DISEASES 57096 \| RPGRIP1 \| 2.307 \| DISEASES 6247 \| RS1 \| 2.373 \| DISEASES 6295 \| SAG \| 5.309 \| DISEASES 221935 \| SDK1 \| 2.486 \| DISEASES 54549 \| SDK2 \| 3.29 \| DISEASES 6512 \| SLC1A7 \| 1.912 \| DISEASES 10166 \| SLC25A15 \| 1.478 \| DISEASES 29957 \| SLC25A24 \| 3.117 \| DISEASES 9498 \| SLC4A8 \| 1.258 \| DISEASES 6658 \| SOX3 \| 1.366 \| DISEASES 8406 \| SRPX \| 2.533 \| DISEASES 6491 \| STIL \| 2.58 \| DISEASES 64220 \| STRA6 \| 1.645 \| DISEASES 8802 \| SUCLG1 \| 1.766 \| DISEASES 8801 \| SUCLG2 \| 1.131 \| DISEASES 51684 \| SUFU \| 2.008 \| DISEASES 8867 \| SYNJ1 \| 1.891 \| DISEASES 4943 \| TBC1D25 \| 2.249 \| DISEASES 10716 \| TBR1 \| 1.785 \| DISEASES 4308 \| TRPM1 \| 6.686 \| DISEASES 80036 \| TRPM3 \| 1.532 \| DISEASES 254173 \| TTLL10 \| 1.421 \| DISEASES 7317 \| UBA1 \| 1.54 \| DISEASES 10810 \| WASF3 \| 1.32 \| DISEASES 7694 \| ZNF135 \| 1.588 \| DISEASES 347344 \| ZNF81 \| 2.625 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1382
Disease	night blindness
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:21) HP:0000572 \| Visual loss \| 3 HP:0000529 \| Slowly progressive visual loss \| 3 HP:0000510 \| Retinitis pigmentosa \| 3 HP:0000639 \| Nystagmus \| 3 HP:0000546 \| Retinal degeneration \| 2 HP:0000580 \| Pigmentary retinopathy \| 1 HP:0000505 \| Poor vision \| 1 HP:0000646 \| Wandering eyes \| 1 HP:0007994 \| Loss of peripheral vision \| 1 HP:0012804 \| Corneal ulceration \| 1 HP:0000962 \| Hyperkeratosis \| 1 HP:0001097 \| Keratoconjunctivitis sicca \| 1 HP:0007502 \| Hyperkeratosis follicularis \| 1 HP:0011003 \| High myopia \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0012426 \| Optic disc drusen \| 1 HP:0001133 \| Depressed visual field \| 1 HP:0030642 \| Fundus albipunctatus \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0001061 \| Acne \| 1 HP:0030502 \| Retinoschisis \| 1

Disease ID	1382
Disease	night blindness
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:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893790	12590587	6010	RHO	umls:C0028077	BeFree	In an examination of the effect of three rhodopsin night blindness mutations on the rate of association of 11-cis-retinal with opsin, one of the mutations (G90D) was found to slow the rate of reaction by more than 80-fold.	0.006991475	2003	RHO	3	129529002	G	A
rs104893790	7846071	6010	RHO	umls:C0028077	BeFree	In vitro evidence had suggested that transducin is activated by the Gly90Asp mutation in the absence of both the retinal chromophore and light, termed constitutive activity. The apparent preservation of functioning rods despite extensive and lifelong night-blindness in this kindred is inconsistent with one current hypothesis that chronic rod activation from constitutively active mutant rhodopsin necessarily contributes significantly to photoreceptor demise in human retinal dystrophies.	0.006991475	1995	RHO	3	129529002	G	A
rs104893796	12590588	6010	RHO	umls:C0028077	BeFree	The T94I mutant pigment (with a bound 11-cis-retinal chromophore), like the other known rhodopsin night blindness mutants, is not active in the dark and has wild-type activity upon exposure to light.	0.006991475	2003	RHO	3	129529014	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	1382
Disease	night blindness
Case	(Waiting for update.)

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