CSNB1H
MCID: NGH024
MIFTS: 39

Night Blindness, Congenital Stationary, Type 1h (CSNB1H)

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

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1h

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1h:

Name: Night Blindness, Congenital Stationary, Type 1h 56 29 6
Csnb1h 56 12 73
Congenital Stationary Night Blindness 1h 12 15
Congenital Stationary Night Blindness Type 1h 12
Night Blindness, Congenital Stationary, 1h 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
stable visual parameters over long follow-up


HPO:

31
night blindness, congenital stationary, type 1h:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110866
OMIM 56 617024
OMIM Phenotypic Series 56 PS310500
MeSH 43 D009755

Summaries for Night Blindness, Congenital Stationary, Type 1h

OMIM : 56 Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). (617024)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1h, also known as csnb1h, is related to mental retardation, autosomal dominant 42 and progressive familial heart block, type ib. An important gene associated with Night Blindness, Congenital Stationary, Type 1h is GNB3 (G Protein Subunit Beta 3), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. Related phenotypes are hypermetropia and photophobia

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 73 Night blindness, congenital stationary, 1H: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive.

Related Diseases for Night Blindness, Congenital Stationary, Type 1h

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, Type 1h via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal dominant 42 10.3 GNB4 GNB2 GNB1
2 progressive familial heart block, type ib 10.3 GNB5 GNB2
3 amphetamine abuse 9.8 DRD5 DRD4
4 long qt syndrome 1 9.8 KCNJ6 KCNJ5 KCNJ3
5 ventricular fibrillation, paroxysmal familial, 1 9.8 KNG1 KCNJ5
6 polysubstance abuse 9.7 DRD3 DRD2
7 early-onset schizophrenia 9.7 DRD2 DRD1
8 tardive dyskinesia 9.7 DRD3 DRD2
9 cyclothymic disorder 9.4 DRD4 DRD2
10 focal dystonia 9.4 DRD5 DRD2 DRD1
11 neuroleptic malignant syndrome 9.4 DRD3 DRD2 DRD1
12 cocaine abuse 9.4 DRD3 DRD2 DRD1
13 kleptomania 9.4 DRD4 DRD3 DRD2
14 cocaine dependence 9.3 DRD3 DRD2 DRD1
15 trichotillomania 9.3 DRD4 DRD3 DRD2
16 drug dependence 9.3 DRD3 DRD2 DRD1
17 sexual disorder 9.3 DRD4 DRD3 DRD2
18 conduct disorder 9.3 DRD5 DRD4 DRD2
19 heroin dependence 9.3 DRD4 DRD2 DRD1
20 personality disorder 9.3 DRD4 DRD3 DRD2
21 alcohol use disorder 9.2 DRD3 DRD2 DRD1
22 schizoaffective disorder 9.2 DRD4 DRD3 DRD2
23 cannabis abuse 9.2 DRD4 DRD2
24 bruxism 9.1 DRD5 DRD3 DRD2 DRD1
25 opiate dependence 9.0 DRD4 DRD3 DRD2 DRD1
26 bipolar i disorder 9.0 DRD4 DRD3 DRD2 DRD1
27 mental depression 9.0 DRD4 DRD3 DRD2 DRD1
28 obsessive-compulsive disorder 8.9 DRD4 DRD3 DRD2 DRD1
29 mood disorder 8.8 GNB3 DRD4 DRD3 DRD2 DRD1
30 major depressive disorder 8.8 GNB3 DRD4 DRD3 DRD2 DRD1
31 oculogyric crisis 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
32 drug psychosis 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
33 drug-induced mental disorder 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
34 chronic tic disorder 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
35 tic disorder 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
36 substance-induced psychosis 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
37 delusional disorder 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
38 schizophreniform disorder 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
39 opioid abuse 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
40 lingual-facial-buccal dyskinesia 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
41 impulse control disorder 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
42 pathological gambling 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
43 choreatic disease 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
44 gastroparesis 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
45 migraine without aura 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
46 movement disease 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
47 substance abuse 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
48 substance dependence 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
49 gilles de la tourette syndrome 8.7 DRD5 DRD4 DRD3 DRD2 DRD1
50 tobacco addiction 8.7 DRD5 DRD4 DRD3 DRD2 DRD1

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Type 1h:



Diseases related to Night Blindness, Congenital Stationary, Type 1h

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1h

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1h:

31
# Description HPO Frequency HPO Source Accession
1 hypermetropia 31 occasional (7.5%) HP:0000540
2 photophobia 31 HP:0000613
3 nyctalopia 31 HP:0000662
4 mild myopia 31 HP:0025573

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hyperopia (in some patients)
night blindness (childhood onset)
photophobia (in older patients)
color vision deficits (in older patients)
mild myopia (in 1 patient)
more

Clinical features from OMIM:

617024

GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.11 PLCB2
2 Decreased viability GR00221-A-4 10.11 PLCB2
3 Decreased viability GR00249-S 10.11 GNB5
4 Decreased viability GR00301-A 10.11 PLCB2
5 Decreased viability GR00381-A-1 10.11 KCNJ3 KCNJ5
6 Decreased viability GR00381-A-3 10.11 KCNJ5
7 Decreased viability GR00386-A-1 10.11 DRD1 GNB1 GNB3 GNB4 RGS6
8 Decreased viability GR00402-S-2 10.11 GNB4 GNB5 KCNJ3 KCNJ5 RGS6 SUCLG2
9 shRNA abundance <= 50% GR00343-S 9.17 DRD1 DRD2 DRD4 GNB3 KCNJ5 KCNJ6
10 Increased the percentage of infected cells GR00402-S-1 8.65 GNB2

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Type 1h:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 DRD1 DRD2 DRD3 DRD4 DRD5 GNB1
2 cardiovascular system MP:0005385 9.36 DRD1 DRD2 DRD3 DRD5 GNB1 GNB2

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1h

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1h

Genetic Tests for Night Blindness, Congenital Stationary, Type 1h

Genetic tests related to Night Blindness, Congenital Stationary, Type 1h:

# Genetic test Affiliating Genes
1 Night Blindness, Congenital Stationary, Type 1h 29 GNB3

Anatomical Context for Night Blindness, Congenital Stationary, Type 1h

Publications for Night Blindness, Congenital Stationary, Type 1h

Articles related to Night Blindness, Congenital Stationary, Type 1h:

# Title Authors PMID Year
1
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. 6 56
27063057 2016

Variations for Night Blindness, Congenital Stationary, Type 1h

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1h:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNB3 NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)SNV Pathogenic 242984 rs879253773 12:6956056-6956056 12:6846892-6846892
2 GNB3 NM_002075.4(GNB3):c.170_172del (p.Lys57del)deletion Pathogenic 242985 rs879253774 12:6952206-6952208 12:6843042-6843044
3 GNB3 NM_002075.4(GNB3):c.200C>T (p.Ser67Phe)SNV Pathogenic 242986 rs140263599 12:6952237-6952237 12:6843073-6843073

Expression for Night Blindness, Congenital Stationary, Type 1h

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1h.

Pathways for Night Blindness, Congenital Stationary, Type 1h

Pathways related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.23 RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
2
Show member pathways
13.64 RGS6 KNG1 GNB5 GNB4 GNB3 GNB2
3
Show member pathways
13.27 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
4
Show member pathways
13.21 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
5
Show member pathways
13.16 PLCB2 KCNJ3 GNB5 GNB4 GNB3 GNB2
6
Show member pathways
13.1 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
7
Show member pathways
13.09 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
8
Show member pathways
13.09 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
9
Show member pathways
13.08 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
10
Show member pathways
13.05 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
11
Show member pathways
13 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
12
Show member pathways
12.98 GNB5 GNB4 GNB3 GNB2 GNB1
13
Show member pathways
12.98 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
14
Show member pathways
12.96 GNB5 GNB4 GNB3 GNB2 GNB1
15
Show member pathways
12.95 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
16
Show member pathways
12.94 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
17
Show member pathways
12.93 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
18 12.93 PLCB2 KNG1 GNB5 GNB4 GNB3 GNB2
19
Show member pathways
12.92 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
20
Show member pathways
12.9 GNB5 GNB4 GNB3 GNB2 GNB1
21
Show member pathways
12.84 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
22
Show member pathways
12.76 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
23
Show member pathways
12.72 GNB5 GNB4 GNB3 GNB2 GNB1 DRD5
24
Show member pathways
12.68 GNB5 GNB4 GNB3 GNB2 GNB1
25
Show member pathways
12.68 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
26
Show member pathways
12.67 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
27
Show member pathways
12.65 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
28
Show member pathways
12.65 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
29
Show member pathways
12.57 RGS6 KCNJ5 KCNJ3 GNB5 GNB4 GNB3
30
Show member pathways
12.55 GNB5 GNB4 GNB3 GNB2 GNB1
31 12.54 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
32
Show member pathways
12.53 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
33
Show member pathways
12.51 GNB5 GNB4 GNB3 GNB2 GNB1
34
Show member pathways
12.51 TUBB4A GNB5 GNB4 GNB3 GNB2 GNB1
35
Show member pathways
12.5 PLCB2 KCNJ6 KCNJ5 KCNJ3
36
Show member pathways
12.48 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
37
Show member pathways
12.47 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
38
Show member pathways
12.47 TUBB4A RGS6 GNB5 GNB4 GNB3 GNB2
39
Show member pathways
12.47 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
40
Show member pathways
12.45 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
41
Show member pathways
12.42 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
42
Show member pathways
12.39 GNB5 GNB4 GNB3 GNB2 GNB1
43
Show member pathways
12.36 GNB5 GNB4 GNB3 GNB2 GNB1
45
Show member pathways
12.31 GNB5 GNB4 GNB3 GNB2 GNB1
46 12.29 GNB5 GNB4 GNB3 GNB2 GNB1
47
Show member pathways
12.27 GNB5 GNB4 GNB3 GNB2 GNB1
48
Show member pathways
12.26 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
49
Show member pathways
12.24 KCNJ6 KCNJ5 KCNJ3 GNB3 GNB2 GNB1
50 12.18 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1

GO Terms for Night Blindness, Congenital Stationary, Type 1h

Cellular components related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.03 SUCLG2 RGS6 KNG1 KCNJ6 KCNJ5 KCNJ3
2 dendrite GO:0030425 9.8 GNB3 GNB1 DRD4 DRD2 DRD1
3 cell body GO:0044297 9.65 GNB3 GNB2 GNB1
4 voltage-gated potassium channel complex GO:0008076 9.63 KCNJ6 KCNJ5 KCNJ3
5 GABA-ergic synapse GO:0098982 9.61 DRD3 DRD2 DRD1
6 cell GO:0005623 9.61 PLCB2 KNG1 GNB3 GNB1 DRD5 DRD4
7 integral component of presynaptic membrane GO:0099056 9.54 KCNJ3 DRD2 DRD1
8 9+0 non-motile cilium GO:0097731 9.51 DRD5 DRD1
9 ciliary membrane GO:0060170 9.5 DRD5 DRD2 DRD1
10 dopaminergic synapse GO:0098691 9.49 DRD3 DRD2
11 non-motile cilium GO:0097730 9.43 DRD5 DRD2 DRD1
12 heterotrimeric G-protein complex GO:0005834 9.02 GNB5 GNB4 GNB3 GNB2 GNB1

Biological processes related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.29 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
2 cell-cell signaling GO:0007267 9.98 DRD5 DRD3 DRD2 DRD1
3 protein folding GO:0006457 9.97 GNB5 GNB4 GNB3 GNB2 GNB1
4 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.9 DRD5 DRD3 DRD2 DRD1
5 cellular calcium ion homeostasis GO:0006874 9.88 DRD5 DRD4 DRD3
6 locomotory behavior GO:0007626 9.87 DRD3 DRD2 DRD1
7 response to cocaine GO:0042220 9.86 DRD5 DRD3 DRD2 DRD1
8 visual learning GO:0008542 9.83 DRD3 DRD2 DRD1
9 potassium ion import across plasma membrane GO:1990573 9.83 KCNJ6 KCNJ5 KCNJ3
10 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway GO:0051482 9.82 DRD3 DRD2 DRD1
11 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.81 DRD5 DRD3 DRD2 DRD1
12 associative learning GO:0008306 9.8 DRD5 DRD2 DRD1
13 negative regulation of blood pressure GO:0045776 9.8 DRD5 DRD3 DRD2
14 negative regulation of protein secretion GO:0050709 9.79 DRD4 DRD3 DRD2
15 arachidonic acid secretion GO:0050482 9.78 DRD4 DRD3 DRD2
16 prepulse inhibition GO:0060134 9.77 DRD3 DRD2 DRD1
17 G protein-coupled receptor signaling pathway GO:0007186 9.77 RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
18 behavioral response to ethanol GO:0048149 9.76 DRD4 DRD3 DRD2
19 behavioral response to cocaine GO:0048148 9.76 DRD4 DRD3 DRD2 DRD1
20 adenylate cyclase-inhibiting dopamine receptor signaling pathway GO:0007195 9.74 DRD4 DRD3 DRD2
21 negative regulation of voltage-gated calcium channel activity GO:1901386 9.73 GNB5 DRD4 DRD3 DRD2
22 vasodilation GO:0042311 9.72 KNG1 DRD1
23 transmission of nerve impulse GO:0019226 9.71 DRD5 DRD1
24 negative regulation of cytosolic calcium ion concentration GO:0051481 9.71 DRD3 DRD2
25 long-term synaptic depression GO:0060292 9.71 DRD5 DRD1
26 negative regulation of synaptic transmission, glutamatergic GO:0051967 9.71 DRD3 DRD2
27 cellular response to catecholamine stimulus GO:0071870 9.71 GNB1 DRD5 DRD1
28 dopamine metabolic process GO:0042417 9.71 DRD4 DRD3 DRD2 DRD1
29 positive regulation of renal sodium excretion GO:0035815 9.7 DRD3 DRD2
30 grooming behavior GO:0007625 9.7 DRD2 DRD1
31 G protein-coupled receptor internalization GO:0002031 9.7 DRD3 DRD2
32 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.7 DRD3 DRD2 DRD1
33 striatum development GO:0021756 9.69 DRD2 DRD1
34 regulation of postsynaptic neurotransmitter receptor internalization GO:0099149 9.69 DRD4 DRD3
35 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.69 KCNJ5 KCNJ3
36 regulation of potassium ion transport GO:0043266 9.68 DRD3 DRD2
37 regulation of dopamine metabolic process GO:0042053 9.68 DRD4 DRD1
38 peristalsis GO:0030432 9.68 DRD2 DRD1
39 mating behavior GO:0007617 9.67 DRD5 DRD1
40 cerebral cortex GABAergic interneuron migration GO:0021853 9.67 DRD2 DRD1
41 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.67 KCNJ5 KCNJ3
42 regulation of locomotion involved in locomotory behavior GO:0090325 9.67 GNB3 DRD3 DRD2
43 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.67 DRD5 DRD3 DRD2 DRD1
44 regulation of neurotransmitter uptake GO:0051580 9.66 DRD3 DRD2
45 negative regulation of dopamine receptor signaling pathway GO:0060160 9.65 DRD3 DRD2
46 response to histamine GO:0034776 9.65 DRD4 DRD3 DRD2
47 response to amphetamine GO:0001975 9.65 DRD5 DRD4 DRD3 DRD2 DRD1
48 ventricular cardiac muscle cell membrane repolarization GO:0099625 9.64 KCNJ5 KCNJ3
49 positive regulation of dopamine uptake involved in synaptic transmission GO:0051586 9.64 DRD4 DRD2
50 acid secretion GO:0046717 9.63 DRD3 DRD2

Molecular functions related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 TUBB4A SUCLG2 RGS6 PLCB2 KNG1 KCNJ6
2 protein-containing complex binding GO:0044877 9.92 SUCLG2 GNB4 GNB2 GNB1 DRD2
3 GTPase activity GO:0003924 9.88 TUBB4A RGS6 GNB5 GNB3 GNB2 GNB1
4 drug binding GO:0008144 9.71 DRD4 DRD3 DRD2
5 GTPase binding GO:0051020 9.65 GNB3 GNB2 GNB1
6 inward rectifier potassium channel activity GO:0005242 9.61 KCNJ6 KCNJ5 KCNJ3
7 adrenergic receptor activity GO:0004935 9.56 DRD5 DRD3 DRD2 DRD1
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNJ5 KCNJ3
9 dopamine binding GO:0035240 9.55 DRD5 DRD4 DRD3 DRD2 DRD1
10 dopamine neurotransmitter receptor activity, coupled via Gi/Go GO:0001591 9.54 DRD4 DRD3 DRD2
11 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.51 KCNJ5 KCNJ3
12 G-protein activated inward rectifier potassium channel activity GO:0015467 9.5 KCNJ6 KCNJ5 KCNJ3
13 dopamine neurotransmitter receptor activity, coupled via Gs GO:0001588 9.46 DRD5 DRD1
14 G-protein gamma-subunit binding GO:0031682 9.35 GNB5 GNB4 GNB3 GNB2 GNB1
15 dopamine neurotransmitter receptor activity GO:0004952 9.02 DRD5 DRD4 DRD3 DRD2 DRD1

Sources for Night Blindness, Congenital Stationary, Type 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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