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	congenital stationary night blindness

Disease ID	822
Disease	congenital stationary night blindness
Definition	A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [HPO:probinson]
Synonym	congenital night blindness congenital stationary night blindness (disorder) csnb - congenital stationary night blindness night blindness since birth night blindness, congenital stationary static congenital hemeralopia
Orphanet	ORPHANET:215
DOID	DOID:0050534 DOID:8498
ICD10	ICD10CM:H53.63
UMLS	C0339535
SNOMED-CT	SNOMEDCT_US_2016_09_01:232061009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0035334 \| retinitis pigmentosa \| 1 C0035333 \| retinitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 6295 \| SAG \| CTD_human;ORPHANET;UniProtKB-KW 93589 \| CACNA2D4 \| ORPHANET 6011 \| GRK1 \| ORPHANET;UniProtKB-KW 5158 \| PDE6B \| CTD_human;ORPHANET;UniProtKB-KW 9187 \| SLC24A1 \| ORPHANET;UniProtKB-KW 6010 \| RHO \| CTD_human;ORPHANET;UniProtKB-KW 60506 \| NYX \| ORPHANET;UniProtKB-KW 778 \| CACNA1F \| ORPHANET;UniProtKB-KW 2916 \| GRM6 \| ORPHANET;UniProtKB-KW 4308 \| TRPM1 \| ORPHANET;UniProtKB-KW 57010 \| CABP4 \| ORPHANET 2779 \| GNAT1 \| ORPHANET;UniProtKB-KW 345193 \| LRIT3 \| ORPHANET;UniProtKB-KW 440435 \| GPR179 \| ORPHANET;UniProtKB-KW 2784 \| GNB3 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 23746 \| AIPL1 \| 3.257 \| DISEASES 369 \| ARAF \| 1.761 \| DISEASES 7439 \| BEST1 \| 1.034 \| DISEASES 656 \| BMP8B \| 2.078 \| DISEASES 57010 \| CABP4 \| 5.968 \| DISEASES 778 \| CACNA1F \| 7.536 \| DISEASES 779 \| CACNA1S \| 1.65 \| DISEASES 93589 \| CACNA2D4 \| 3.532 \| DISEASES 27101 \| CACYBP \| 2.173 \| DISEASES 857 \| CAV1 \| 1.111 \| DISEASES 1038 \| CDR1 \| 1.299 \| DISEASES 80184 \| CEP290 \| 1.447 \| DISEASES 1139 \| CHRNA7 \| 2.426 \| DISEASES 1259 \| CNGA1 \| 2.625 \| DISEASES 23418 \| CRB1 \| 2.833 \| DISEASES 9946 \| CRYZL1 \| 3.32 \| DISEASES 1798 \| DPAGT1 \| 1.299 \| DISEASES 346007 \| EYS \| 1.977 \| DISEASES 440435 \| GPR179 \| 6.093 \| DISEASES 2857 \| GPR34 \| 3.139 \| DISEASES 2897 \| GRIK1 \| 1.707 \| DISEASES 6011 \| GRK1 \| 4.129 \| DISEASES 2996 \| GYPE \| 1.34 \| DISEASES 3347 \| HTN3 \| 1.414 \| DISEASES 9742 \| IFT140 \| 2.471 \| DISEASES 9735 \| KNTC1 \| 1.68 \| DISEASES 167691 \| LCA5 \| 2.365 \| DISEASES 345193 \| LRIT3 \| 5.862 \| DISEASES 4129 \| MAOB \| 1.33 \| DISEASES 54893 \| MTMR10 \| 3.311 \| DISEASES 4604 \| MYBPC1 \| 2.763 \| DISEASES 4857 \| NOVA1 \| 2.291 \| DISEASES 60506 \| NYX \| 7.756 \| DISEASES 4948 \| OCA2 \| 1.192 \| DISEASES 94233 \| OPN4 \| 1.515 \| DISEASES 5015 \| OTX2 \| 1.391 \| DISEASES 5158 \| PDE6B \| 4.104 \| DISEASES 5146 \| PDE6C \| 2.204 \| DISEASES 5504 \| PPP1R2 \| 3.206 \| DISEASES 639 \| PRDM1 \| 1.05 \| DISEASES 56978 \| PRDM8 \| 3.285 \| DISEASES 4007 \| PRICKLE3 \| 3.868 \| DISEASES 5578 \| PRKCA \| 1.298 \| DISEASES 5592 \| PRKG1 \| 1.271 \| DISEASES 25898 \| RCHY1 \| 1.86 \| DISEASES 8786 \| RGS11 \| 3.593 \| DISEASES 6000 \| RGS7 \| 2.582 \| DISEASES 6103 \| RPGR \| 3.061 \| DISEASES 57096 \| RPGRIP1 \| 2.666 \| DISEASES 6295 \| SAG \| 2.917 \| DISEASES 221935 \| SDK1 \| 2.845 \| DISEASES 54549 \| SDK2 \| 3.649 \| DISEASES 6658 \| SOX3 \| 1.724 \| DISEASES 64220 \| STRA6 \| 2.004 \| DISEASES 8801 \| SUCLG2 \| 1.49 \| DISEASES 8867 \| SYNJ1 \| 2.25 \| DISEASES 4943 \| TBC1D25 \| 2.608 \| DISEASES 4308 \| TRPM1 \| 6.819 \| DISEASES 80036 \| TRPM3 \| 1.89 \| DISEASES 254173 \| TTLL10 \| 1.78 \| DISEASES 7317 \| UBA1 \| 1.899 \| DISEASES 10163 \| WASF2 \| 1.048 \| DISEASES 10810 \| WASF3 \| 1.678 \| DISEASES 347344 \| ZNF81 \| 2.984 \| DISEASES
Locus	Symbol \| Locus(Total Locus:14) PDE6B \| 4p16.3 SAG \| 2q37.1 SLC24A1 \| 15q22.31 RHO \| 3q22.1 GRK1 \| 13q34 TRPM1 \| 15q13.3 GRM6 \| 5q35.3 CABP4 \| 11q13.2 NYX \| Xp11.4 LRIT3 \| 4q25 GPR179 \| 17q12 CACNA1F \| Xp11.23 GNAT1 \| 3p21.31 CACNA2D4 \| 12p13.33

Disease ID	822
Disease	congenital stationary night blindness
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0000639 \| Nystagmus HP:0001098 \| Abnormality of the fundus HP:0000479 \| Abnormality of the retina HP:0000486 \| Strabismus HP:0007766 \| Optic disc hypoplasia HP:0008002 \| Abnormality of macular pigmentation HP:0011003 \| Severe Myopia HP:0007663 \| Reduced visual acuity HP:0000662 \| Nyctalopia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0000510 \| Retinitis pigmentosa \| 1 HP:0030502 \| Retinoschisis \| 1

Disease ID	822
Disease	congenital stationary 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:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893790	23579341	6010	RHO	umls:C0339535	BeFree	Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.	0.241900093	2013	RHO	3	129529002	G	A
rs104893796	9888392	6010	RHO	umls:C0339535	BeFree	A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.	0.241900093	1999	RHO	3	129529014	C	T
rs121918582	17044014	5158	PDE6B	umls:C0339535	BeFree	Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.	0.240542884	2007	PDE6B;LOC101928521	4	653912	C	A
rs122456136	15807819	778	CACNA1F	umls:C0339535	BeFree	To describe the phenotype in a New Zealand family with an unusual severe X-linked retinal disorder with a novel I745T mutation in CACNA1F, the gene responsible for incomplete congenital stationary night blindness (CSNB2).	0.126243163	2005	CACNA1F	X	49222576	A	G
rs201654095	22194652	778	CACNA1F	umls:C0339535	BeFree	A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.	0.126243163	2011	CACNA1F	X	49224864	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007766	Optic disc hypoplasia	MP:0008259	abnormal optic disc morphology	any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
HP:0008002	Abnormality of macular pigmentation	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0007663	Reduced visual acuity	MP:0006149	decreased visual acuity	loss of visual acuity or ability to distinguish small details

Mapped by homologous gene(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011003	Severe Myopia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0007663	Reduced visual acuity	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0008002	Abnormality of macular pigmentation	MP:0013203	abnormal primary cilium morphology	any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors
HP:0007766	Optic disc hypoplasia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000486	Strabismus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000662	Nyctalopia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000639	Nystagmus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l

Disease ID	822
Disease	congenital stationary night blindness
Case	(Waiting for update.)

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