CSNBAD2
MCID: NGH010
MIFTS: 45

Night Blindness, Congenital Stationary, Autosomal Dominant 2 (CSNBAD2)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 2

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 2:

Name: Night Blindness, Congenital Stationary, Autosomal Dominant 2 57 72 13 70
Hemeralopia 72 29 70
Csnbad2 57 12 72
Congenital Stationary Night Blindness, Autosomal Dominant 2 29 6
Congenital Stationary Night Blindness Autosomal Dominant 2 12 15
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2 39
Night Blindness, Congenital Stationary, Rambusch Type 57
Rambusch Type Congenital Stationary Night Blindness 12
Congenital Stationary Night Blindness Rambusch Type 72
Hemeralopia Congenital Essential 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant (4p16.3)


HPO:

31
night blindness, congenital stationary, autosomal dominant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110863
OMIM® 57 163500
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
MedGen 41 C1876182
SNOMED-CT via HPO 68 193687000 232061009 263681008
UMLS 70 C0018975 C1876182

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, autosomal dominant 2: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

MalaCards based summary : Night Blindness, Congenital Stationary, Autosomal Dominant 2, also known as hemeralopia, is related to congenital stationary night blindness and night blindness, and has symptoms including photophobia, amaurosis fugax and metamorphopsia. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 2 is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways are Signaling by Wnt and Development Angiotensin activation of ERK. Affiliated tissues include eye, retina and liver, and related phenotypes are congenital stationary night blindness and vision/eye

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal dominant inhertance that has material basis in heterozygous mutation in the PDE6B gene on chromosome 4p16.

More information from OMIM: 163500 PS310500

Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 30.9 RPGRIP1 PDE6B-AS1 PDE6B
2 night blindness 30.3 PDE6H PDE6B-AS1 PDE6B
3 retinitis pigmentosa 28.6 RPGRIP1 PDE6H PDE6B-AS1 PDE6B GNGT2 GNGT1
4 night blindness, congenital stationary, type 1a 11.2
5 enhanced s-cone syndrome 11.0
6 night blindness, congenital stationary, autosomal dominant 3 10.9
7 x-linked congenital stationary night blindness 10.9
8 fundus albipunctatus 10.3
9 yemenite deaf-blind hypopigmentation syndrome 10.1
10 neuroretinitis 10.1
11 retinitis 10.1
12 retinitis pigmentosa 40 10.0 PDE6B-AS1 PDE6B
13 retinal degeneration 10.0
14 night blindness, congenital stationary, type 2a 9.9 PDE6H PDE6B
15 strabismus 9.9
16 cystinuria 9.9
17 oguchi disease 1 9.9
18 wilson disease 9.9
19 retinoschisis 1, x-linked, juvenile 9.9
20 leber congenital amaurosis 5 9.9
21 xerophthalmia 9.9
22 keratoconjunctivitis sicca 9.9
23 liver cirrhosis 9.9
24 eye disease 9.9
25 mechanical strabismus 9.9
26 achromatopsia 9.8 RPGRIP1 PDE6H PDE6B
27 color blindness 9.8 RPGRIP1 PDE6H PDE6B
28 cone-rod dystrophy 6 9.7 RPGRIP1 PDE6H PDE6B
29 achromatopsia 3 9.7 RPGRIP1 PDE6H LRRC70
30 leber plus disease 9.5 RPGRIP1 PDE6H PDE6B-AS1 PDE6B
31 cone dystrophy 9.5 RPGRIP1 PDE6H PDE6B
32 fundus dystrophy 9.3 RPGRIP1 PDE6H PDE6B-AS1 PDE6B GNGT1
33 cone-rod dystrophy 2 9.3 RPGRIP1 PDE6H PDE6B-AS1 PDE6B GNGT2

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:



Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 2

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

31
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 31 HP:0007642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
congenital night blindness
normal fundi

Lab:
mutant rhodopsin or beta subunit of retinal rod cgmp phosphodiesterase

Clinical features from OMIM®:

163500 (Updated 20-May-2021)

UMLS symptoms related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:


photophobia; amaurosis fugax; metamorphopsia; micropsia

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 CETN1 GNB2 GNGT1 GNGT2 PDE6B PDE6H

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Hemeralopia 29
2 Congenital Stationary Night Blindness, Autosomal Dominant 2 29 PDE6B

Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 2

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

40
Eye, Retina, Liver, Brain, Prostate

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

(show top 50) (show all 119)
# Title Authors PMID Year
1
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. 57 6
17044014 2007
2
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 6 57
8075643 1994
3
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. 57
8004102 1994
4
Autosomal dominant stationary night-blindness. A large family rediscovered. 57
1789082 1991
5
Congenital stationary night blindness without ophthalmoscopic or other abnormalities. 57
13057421 1953
6
Efficient measurements for the dynamic range of human lightness perception. 61
33420857 2021
7
Oguchi type I caused by a homozygous missense variation in the SAG gene. 61
30267901 2019
8
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR). 61
30578485 2018
9
Clinical studies on progressive retinal atrophy in 31 dogs. 61
28775752 2017
10
Mizuo-Nakamura Phenomena. 61
27842204 2016
11
[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. 61
26868535 2016
12
Peripheral cone dystrophy: a diagnostic improbability? 61
24705257 2014
13
The RPGRIP1-related retinal phenotype in children. 61
23505306 2013
14
Eye and pregnancy. 61
23837242 2013
15
[Understanding refraction disorders and oculomotor problems during pregnancy]. 61
20451289 2010
16
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. 61
19726938 2009
17
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 61
17962469 2007
18
[Ophthalmological notes. 15. Nyctalopia/hemeralopia]. 61
17601061 2007
19
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. 61
17565677 2007
20
[Nutritional deficiencies associated with bariatric surgery]. 61
17483773 2007
21
[Oguchi disease or stationary congenital night blindness: a case report]. 61
17287664 2007
22
Nyctalopia and hemeralopia: the current usage trend in the literature. 61
17114591 2006
23
[Fundus albipunctatus incidentally discovered in a black African man]. 61
16885819 2006
24
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 61
15790869 2005
25
[A case of a retinitis pigmentosa and asteroid hyalosis]. 61
15499279 2004
26
Canine inherited retinal degenerations: update on molecular genetic research and its clinical application. 61
12400639 2002
27
Benediktos Adamantiades and his forgotten contributions to medicine. 61
12370138 2002
28
[Why should the terms "nyctalopia" and "hemeralopia" be avoided?]. 61
11973667 2002
29
[Why must the terms nyctalopia and hemeralopia be avoided?]. 61
11967741 2002
30
[Gyrate atrophy of the choroid and retina: a case report]. 61
11033500 2000
31
[Ocular manifestations associated with vitamin A deficiency in a rural area of Burkina Faso]. 61
10989789 2000
32
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. 61
10218695 1999
33
Foveal cone dysfunction syndrome. 61
9532531 1998
34
Increased risk of autoimmune hypothyroidism in patients affected by retinitis pigmentosa. 61
8743283 1996
35
Clinical study of a large family with autosomal dominant progressive cone degeneration. 61
8554074 1996
36
[Paraneoplastic retinopathy associated with cutaneous melanoma. An update apropos of a case]. 61
7560778 1995
37
[Sectorial retinitis pigmentosa and acoustic neurinoma]. 61
8286322 1993
38
[Complications of photocoagulation for diabetic retinopathy]. 61
8056122 1993
39
[The Kearns-Sayre syndrome]. 61
8154211 1993
40
Hemeralopia in an older adult. 61
1475752 1992
41
Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. 61
1789083 1991
42
Anandron (RU 23908) in metastatic prostate cancer: preliminary results of a multicentric Italian study. 61
1782640 1991
43
[Mitochondrial myopathy. Encephalopathy with lactic acidosis and cerebral infarction]. 61
2646681 1989
44
The first German textbook of ophthalmology "Augendienst" by G. Bartisch, 1583. 61
3046858 1988
45
Neuro-ophthalmic presentation of cone dysfunction syndromes in the adult. 61
2963026 1987
46
Usher syndrome in four Norwegian counties. 61
3757293 1986
47
[Clinical electroretinography in veterinary medicine. 2. Progressive retinal atrophy and hemeralopia]. 61
3873925 1985
48
Tapetochoroidal degeneration combined with cataract and lentodonesis. 61
4058867 1985
49
[Wolfram's syndrome. Presentation of a case]. 61
6335914 1984
50
[Historical milestones in the treatment of night blindness]. 61
6085992 1984

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 2

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 2:

6 (show top 50) (show all 128)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE6B-AS1 , PDE6B NM_001145292.1(PDE6B):c.-66C>A SNV Pathogenic 13107 rs121918582 GRCh37: 4:647701-647701
GRCh38: 4:653912-653912
2 PDE6B NM_000283.4(PDE6B):c.1107+1G>T SNV Pathogenic 997510 GRCh37: 4:650082-650082
GRCh38: 4:656293-656293
3 PDE6B NM_000283.3(PDE6B):c.1699C>T (p.Gln567Ter) SNV Pathogenic 632445 rs772057239 GRCh37: 4:656007-656007
GRCh38: 4:662218-662218
4 PDE6B NM_000283.3(PDE6B):c.1540del (p.Leu514fs) Deletion Pathogenic 92766 rs398123298 GRCh37: 4:654328-654328
GRCh38: 4:660539-660539
5 PDE6B NM_000283.3(PDE6B):c.2193+1G>A SNV Pathogenic 167440 rs727504075 GRCh37: 4:658734-658734
GRCh38: 4:664945-664945
6 PDE6B NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser) SNV Uncertain significance 906102 GRCh37: 4:656379-656379
GRCh38: 4:662590-662590
7 PDE6B NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser) SNV Uncertain significance 907108 GRCh37: 4:656386-656386
GRCh38: 4:662597-662597
8 PDE6B NM_000283.4(PDE6B):c.1896T>C (p.Phe632=) SNV Uncertain significance 907109 GRCh37: 4:656952-656952
GRCh38: 4:663163-663163
9 PDE6B NM_000283.4(PDE6B):c.*115T>A SNV Uncertain significance 907236 GRCh37: 4:664011-664011
GRCh38: 4:670222-670222
10 PDE6B NM_000283.4(PDE6B):c.*187G>A SNV Uncertain significance 907237 GRCh37: 4:664083-664083
GRCh38: 4:670294-670294
11 PDE6B NM_000283.4(PDE6B):c.*611G>A SNV Uncertain significance 976627 GRCh37: 4:664507-664507
GRCh38: 4:670718-670718
12 PDE6B NC_000004.12:g.670799G>A SNV Uncertain significance 976628 GRCh37: 4:664588-664588
GRCh38: 4:670799-670799
13 PDE6B NM_000283.3(PDE6B):c.1426G>A (p.Glu476Lys) SNV Uncertain significance 349379 rs746783836 GRCh37: 4:652765-652765
GRCh38: 4:658976-658976
14 PDE6B NM_000283.4(PDE6B):c.1920+4G>A SNV Uncertain significance 907110 GRCh37: 4:656980-656980
GRCh38: 4:663191-663191
15 PDE6B NM_000283.3(PDE6B):c.313G>A (p.Glu105Lys) SNV Uncertain significance 92767 rs398123299 GRCh37: 4:619728-619728
GRCh38: 4:625939-625939
16 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.789G>A (p.Thr263=) SNV Uncertain significance 349363 rs138789637 GRCh37: 4:647718-647718
GRCh38: 4:653929-653929
17 PDE6B NM_000283.3(PDE6B):c.387G>T (p.Glu129Asp) SNV Uncertain significance 349293 rs752303143 GRCh37: 4:619802-619802
GRCh38: 4:626013-626013
18 PDE6B NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys) SNV Uncertain significance 903661 GRCh37: 4:619524-619524
GRCh38: 4:625735-625735
19 PDE6B NM_000283.4(PDE6B):c.316C>T (p.Leu106=) SNV Uncertain significance 903746 GRCh37: 4:619731-619731
GRCh38: 4:625942-625942
20 PDE6B NM_000283.4(PDE6B):c.297G>A (p.Gln99=) SNV Uncertain significance 903744 GRCh37: 4:619712-619712
GRCh38: 4:625923-625923
21 PDE6B NM_000283.4(PDE6B):c.*215A>G SNV Uncertain significance 903897 GRCh37: 4:664111-664111
GRCh38: 4:670322-670322
22 PDE6B-AS1 , PDE6B NM_000283.4(PDE6B):c.986T>C (p.Val329Ala) SNV Uncertain significance 905524 GRCh37: 4:648671-648671
GRCh38: 4:654882-654882
23 PDE6B NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly) SNV Uncertain significance 903662 GRCh37: 4:619525-619525
GRCh38: 4:625736-625736
24 PDE6B NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys) SNV Uncertain significance 903663 GRCh37: 4:652798-652798
GRCh38: 4:659009-659009
25 PDE6B NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) SNV Uncertain significance 378339 rs760766981 GRCh37: 4:654368-654368
GRCh38: 4:660579-660579
26 PDE6B NM_000283.4(PDE6B):c.*381C>T SNV Uncertain significance 905779 GRCh37: 4:664277-664277
GRCh38: 4:670488-670488
27 PDE6B NC_000004.12:g.670904G>A SNV Uncertain significance 905841 GRCh37: 4:664693-664693
GRCh38: 4:670904-670904
28 PDE6B-AS1 , PDE6B NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala) SNV Uncertain significance 905966 GRCh37: 4:647716-647716
GRCh38: 4:653927-653927
29 PDE6B NM_000283.4(PDE6B):c.2269-7C>T SNV Uncertain significance 906171 GRCh37: 4:660313-660313
GRCh38: 4:666524-666524
30 PDE6B NM_000283.4(PDE6B):c.1239G>A (p.Gln413=) SNV Uncertain significance 907053 GRCh37: 4:650794-650794
GRCh38: 4:657005-657005
31 PDE6B NM_000283.3(PDE6B):c.*271G>A SNV Uncertain significance 349406 rs552530901 GRCh37: 4:664167-664167
GRCh38: 4:670378-670378
32 PDE6B NM_000283.3(PDE6B):c.2091G>A (p.Glu697=) SNV Uncertain significance 349385 rs886059545 GRCh37: 4:657972-657972
GRCh38: 4:664183-664183
33 PDE6B NM_000283.3(PDE6B):c.2152G>A (p.Asp718Asn) SNV Uncertain significance 287073 rs150639487 GRCh37: 4:658692-658692
GRCh38: 4:664903-664903
34 PDE6B NM_000283.3(PDE6B):c.483C>T (p.Ser161=) SNV Uncertain significance 349309 rs886059526 GRCh37: 4:628480-628480
GRCh38: 4:634691-634691
35 PDE6B NM_000283.3(PDE6B):c.1592G>A (p.Arg531Gln) SNV Uncertain significance 349381 rs144664551 GRCh37: 4:654380-654380
GRCh38: 4:660591-660591
36 PDE6B NM_000283.3(PDE6B):c.117G>T (p.Gly39=) SNV Uncertain significance 349286 rs140538420 GRCh37: 4:619532-619532
GRCh38: 4:625743-625743
37 PDE6B NM_000283.3(PDE6B):c.*390T>C SNV Uncertain significance 349409 rs886059549 GRCh37: 4:664286-664286
GRCh38: 4:670497-670497
38 PDE6B NM_000283.3(PDE6B):c.2073C>T (p.Asp691=) SNV Uncertain significance 349384 rs886059544 GRCh37: 4:657954-657954
GRCh38: 4:664165-664165
39 PDE6B NM_000283.3(PDE6B):c.*561C>T SNV Uncertain significance 349413 rs886059551 GRCh37: 4:664457-664457
GRCh38: 4:670668-670668
40 PDE6B NM_000283.3(PDE6B):c.2129+9G>C SNV Uncertain significance 349387 rs753943492 GRCh37: 4:658019-658019
GRCh38: 4:664230-664230
41 PDE6B NM_000283.3(PDE6B):c.469-5G>A SNV Uncertain significance 349307 rs530695084 GRCh37: 4:628461-628461
GRCh38: 4:634672-634672
42 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.932T>C (p.Ile311Thr) SNV Uncertain significance 349367 rs886059543 GRCh37: 4:648617-648617
GRCh38: 4:654828-654828
43 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.1026C>T (p.Ser342=) SNV Uncertain significance 349369 rs754298712 GRCh37: 4:649762-649762
GRCh38: 4:655973-655973
44 PDE6B NM_000283.3(PDE6B):c.698C>T (p.Thr233Met) SNV Uncertain significance 349313 rs752852029 GRCh37: 4:629745-629745
GRCh38: 4:635956-635956
45 PDE6B NM_000283.3(PDE6B):c.*504A>G SNV Uncertain significance 349411 rs886059550 GRCh37: 4:664400-664400
GRCh38: 4:670611-670611
46 PDE6B NM_000283.3(PDE6B):c.*626T>C SNV Uncertain significance 349415 rs886059553 GRCh37: 4:664522-664522
GRCh38: 4:670733-670733
47 PDE6B NM_000283.3(PDE6B):c.*592A>G SNV Uncertain significance 349414 rs886059552 GRCh37: 4:664488-664488
GRCh38: 4:670699-670699
48 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.853-9T>C SNV Uncertain significance 349365 rs886059542 GRCh37: 4:647860-647860
GRCh38: 4:654071-654071
49 PDE6B NM_000283.3(PDE6B):c.711+12C>T SNV Uncertain significance 349315 rs886059527 GRCh37: 4:629770-629770
GRCh38: 4:635981-635981
50 PDE6B NM_000283.3(PDE6B):c.*309T>A SNV Uncertain significance 349408 rs559243245 GRCh37: 4:664205-664205
GRCh38: 4:670416-670416

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 2:

72
# Symbol AA change Variation ID SNP ID
1 PDE6B p.His258Asn VAR_009289 rs121918582

Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Autosomal Dominant 2.

Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Pathways related to Night Blindness, Congenital Stationary, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 PDE6B GNGT2 GNGT1 GNB2
2
Show member pathways
12.59 GNGT2 GNGT1 GNB2
3
Show member pathways
12.48 GNGT2 GNGT1 GNB2
4
Show member pathways
12.43 GNGT2 GNGT1 GNB2
5
Show member pathways
12.42 GNGT2 GNGT1 GNB2
6
Show member pathways
12.4 GNGT2 GNGT1 GNB2
7
Show member pathways
12.36 GNGT2 GNGT1 GNB2
8
Show member pathways
12.34 GNGT2 GNGT1 GNB2
9
Show member pathways
12.33 GNGT2 GNGT1 GNB2
10
Show member pathways
12.31 GNGT2 GNGT1 GNB2
11
Show member pathways
12.25 GNGT2 GNGT1 GNB2
12 12.21 GNGT2 GNGT1 GNB2
13
Show member pathways
12.21 GNGT2 GNGT1 GNB2
14
Show member pathways
12.19 GNGT2 GNGT1 GNB2
15
Show member pathways
12.17 GNGT2 GNGT1 GNB2
16
Show member pathways
12.16 GNGT2 GNGT1 GNB2
17
Show member pathways
12.14 GNGT2 GNGT1 GNB2
18 12.13 GNGT2 GNGT1 GNB2
19
Show member pathways
12.1 GNGT2 GNGT1 GNB2
20
Show member pathways
12.08 GNGT2 GNGT1 GNB2
21
Show member pathways
12.02 GNGT2 GNGT1 GNB2
22
Show member pathways
11.96 GNGT2 GNGT1 GNB2
23 11.93 GNGT2 GNGT1 GNB2
24 11.91 GNGT2 GNGT1 GNB2
25
Show member pathways
11.89 GNGT2 GNGT1 GNB2
26
Show member pathways
11.86 GNGT2 GNGT1 GNB2
27
Show member pathways
11.82 GNGT2 GNGT1 GNB2
28 11.8 GNGT2 GNGT1 GNB2
29 11.75 GNGT2 GNGT1 GNB2
30
Show member pathways
11.71 GNGT2 GNGT1 GNB2
31
Show member pathways
11.58 GNGT2 GNGT1 GNB2
32 11.49 GNGT2 GNGT1 GNB2
33
Show member pathways
11.39 GNGT2 GNGT1 GNB2
34 11.17 GNGT2 GNGT1 GNB2
35
Show member pathways
11.12 PDE6H PDE6B GNGT2 GNGT1
36
Show member pathways
11.1 GNGT2 GNGT1 GNB2

GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.37 PDE6B GNGT1
2 photoreceptor connecting cilium GO:0032391 9.32 RPGRIP1 CETN1
3 photoreceptor disc membrane GO:0097381 9.26 PDE6B GNGT1
4 photoreceptor outer segment membrane GO:0042622 9.16 PDE6H PDE6B
5 G-protein beta/gamma-subunit complex GO:0031680 8.96 GNGT2 GNGT1
6 heterotrimeric G-protein complex GO:0005834 8.8 GNGT2 GNGT1 GNB2

Biological processes related to Night Blindness, Congenital Stationary, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.33 RPGRIP1 PDE6H PDE6B
2 retina development in camera-type eye GO:0060041 9.32 RPGRIP1 PDE6B
3 phototransduction GO:0007602 9.26 GNGT2 GNGT1
4 eye photoreceptor cell development GO:0042462 8.96 RPGRIP1 GNGT1
5 rhodopsin mediated signaling pathway GO:0016056 8.62 PDE6B GNGT1

Molecular functions related to Night Blindness, Congenital Stationary, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.43 GNGT2 GNGT1 GNB2
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.16 PDE6H PDE6B
3 G-protein beta-subunit binding GO:0031681 8.96 GNGT2 GNGT1
4 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.62 PDE6H PDE6B

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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