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MCID: INT323
MIFTS: 38

Intraocular Pressure Quantitative Trait Locus

Categories: Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Intraocular Pressure Quantitative Trait Locus

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MalaCards integrated aliases for Intraocular Pressure Quantitative Trait Locus:

Name: Intraocular Pressure Quantitative Trait Locus 58
77 6 41 17 64
Iopqtl 58

Classifications:

MalaCards categories:
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Intraocular Pressure Quantitative Trait Locus

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PubMed Health : 64 About : Vision often worsens with age. In addition to this normal aging effect, people may also develop eye conditions that further impair their eyesight or even lead to blindness. Glaucoma is one of the more common eye diseases.The term "glaucoma" is used to describe a number of different eye conditions, all of which involve damage to the optic nerve. This leads to ever larger gaps in the field of vision, which often remain unnoticed at first. Your field of vision is what you can see when you look straight ahead, without moving your eyes. In advanced stages, your ability to see things sharply (visual acuity) also gets worse.The following information mainly covers the most common form of glaucoma, called primary open-angle glaucoma (POAG). It progresses slowly, and damage to the optic nerve will not cause vision problems for many years. Eye drops and surgery are the most common treatment options.

MalaCards based summary : Intraocular Pressure Quantitative Trait Locus is related to ritscher-schinzel syndrome and glaucoma, normal tension. An important gene associated with Intraocular Pressure Quantitative Trait Locus is ZEB1 (Zinc Finger E-Box Binding Homeobox 1), and among its related pathways/superpathways is Heart Development. Affiliated tissues include Eye, eye and bone, and related phenotypes are homeostasis/metabolism and vision/eye

Wikipedia : 77 Glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss. The most... more...

Description from OMIM: 611522
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Related Diseases for Intraocular Pressure Quantitative Trait Locus

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Diseases related to Intraocular Pressure Quantitative Trait Locus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 10.1 FOXC1 OPTN
2 glaucoma, normal tension 10.1 LOXL1 OPTN
3 phacogenic glaucoma 10.0 LOXL1 OPTN
4 ocular hypertension 10.0 MYOC OPTN
5 acrofrontofacionasal dysostosis 10.0 CYP1B1 OPTN
6 vernal conjunctivitis 10.0 LOXL1 OPTN
7 uveal disease 10.0 LOXL1 OPTN
8 corneal disease 10.0 OPTN ZEB1
9 anterior segment dysgenesis 4 9.9 FOXC1 PITX2
10 coloboma of macula 9.9 CYP1B1 OPTN
11 glaucoma 1, open angle, a 9.8 CYP1B1 MYOC OPTN
12 excessive tearing 9.8 CYP1B1 MYOC OPTN
13 intestinal atresia 9.8 FOXC1 PITX2
14 optic nerve disease 9.8 MYOC OPTN
15 corneal edema 9.8 CYP1B1 MYOC OPTN
16 primary angle-closure glaucoma 9.8 CYP1B1 MYOC OPTN
17 persistent hyperplastic primary vitreous 9.8 FOXC1 PITX2
18 fuchs' endothelial dystrophy 9.8 PITX2 ZEB1
19 low tension glaucoma 9.7 CDKN2B-AS1 MYOC OPTN WDR36
20 axenfeld-rieger syndrome, type 2 9.7 FOXC1 OPTN PITX2
21 early-onset glaucoma 9.6 CYP1B1 MYOC PITX2
22 axenfeld-rieger syndrome, type 3 9.5 CYP1B1 FOXC1 PITX2
23 anterior segment dysgenesis 9.5 CYP1B1 FOXC1 PITX2
24 glaucoma-related pigment dispersion syndrome 9.5 CYP1B1 LOXL1 PITX2
25 peters-plus syndrome 9.5 CYP1B1 FOXC1 PITX2
26 iris disease 9.4 FOXC1 LOXL1 OPTN PITX2
27 hydrophthalmos 9.3 CYP1B1 FOXC1 OPTN PITX2
28 axenfeld-rieger syndrome 9.3 CYP1B1 FOXC1 OPTN PITX2
29 aniridia 1 9.3 CYP1B1 FOXC1 OPTN PITX2
30 glaucoma 3, primary congenital, a 9.1 CYP1B1 FOXC1 MYOC OPTN PITX2
31 glaucoma, primary open angle 9.1 CDKN2B-AS1 CYP1B1 LOXL1 MYOC OPTN WDR36
32 open-angle glaucoma 9.1 CDKN2B-AS1 CYP1B1 LOXL1 MYOC OPTN WDR36
33 primary congenital glaucoma 8.8 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36
34 juvenile glaucoma 8.8 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36
35 adamantinoma of long bones 8.4 CDKN2B-AS1 CYP1B1 FOXC1 MYOC OPTN PITX2

Graphical network of the top 20 diseases related to Intraocular Pressure Quantitative Trait Locus:



Diseases related to Intraocular Pressure Quantitative Trait Locus
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Symptoms & Phenotypes for Intraocular Pressure Quantitative Trait Locus

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Clinical features from OMIM:

611522

MGI Mouse Phenotypes related to Intraocular Pressure Quantitative Trait Locus:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 CYP1B1 FOXC1 LOXL1 OPTN PITX2 WDR36
2 vision/eye MP:0005391 9.02 CYP1B1 FOXC1 MYOC PITX2 ZEB1
Sources

Drugs & Therapeutics for Intraocular Pressure Quantitative Trait Locus

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PubMedHealth treatment related to Intraocular Pressure Quantitative Trait Locus: 64

Lowering high intraocular pressure can help to delay or stop the gradual progression of vision loss. Glaucoma can't be cured, though, because existing damage to the optic nerve can't be reversed. If someone has glaucoma and high intraocular pressure, it is usually treated using eye drops. Depending on the specific product, the eye drops are applied either once or several times a day.Surgery or laser therapy may be considered if the medication doesn't work, stops working after a while, or is not well tolerated.

Search Clinical Trials , NIH Clinical Center for Intraocular Pressure Quantitative Trait Locus

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Genetic Tests for Intraocular Pressure Quantitative Trait Locus

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Anatomical Context for Intraocular Pressure Quantitative Trait Locus

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MalaCards organs/tissues related to Intraocular Pressure Quantitative Trait Locus:

42
Eye, Bone, Thyroid, Breast, Brain, Lung, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Intraocular Pressure Quantitative Trait Locus:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Ganglion Cell Layer Mature Ganglion Cells Affected by disease
Sources

Publications for Intraocular Pressure Quantitative Trait Locus

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Articles related to Intraocular Pressure Quantitative Trait Locus:

(show top 50) (show all 2856)
# Title Authors Year
1
Psychosocial Experiences of Young Adults Diagnosed With Acute Leukemia During Hospitalization for Induction Chemotherapy Treatment. ( 30829935 )
2019
2
Lung fluid biomarkers for acute respiratory distress syndrome: a systematic review and meta-analysis. ( 30755248 )
2019
3
Fracture Resistance of Titanium, Zirconia, and Ceramic-Reinforced Polyetheretherketone Implant Abutments Supporting CAD/CAM Monolithic Lithium Disilicate Ceramic Crowns After Aging. ( 30716141 )
2019
4
Phase transition and hardness evolution of a Ti-5Al-5Mo-1Fe-1Cr alloy subjected to isothermal aging. ( 30223177 )
2019
5
Is early appendectomy in adults diagnosed with acute appendicitis mandatory? A prospective study. ( 30651750 )
2019
6
Polymethoxylated Flavones Target Cancer Stemness and Improve the Antiproliferative Effect of 5-Fluorouracil in a 3D Cell Model of Colorectal Cancer. ( 30717428 )
2019
7
Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia. ( 30747024 )
2019
8
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia. ( 30777047 )
2019
9
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine. ( 30820323 )
2019
10
GC-MS Metabolomics Reveals Distinct Profiles of Low- and High-Grade Bladder Cancer Cultured Cells. ( 30669322 )
2019
11
Moderate to severe gambling problems and traumatic brain injury: A population-based study. ( 30832188 )
2019
12
Traumatic brain injury and hazardous/harmful drinking: Concurrent and single associations with poor mental health and roadway aggression. ( 30611965 )
2019
13
Advanced airway interventions for paediatric cardiac arrest: a systematic review and meta-analysis. ( 30862528 )
2019
14
Femtosecond laser-assisted cataract surgery for the white cataract. ( 29907631 )
2019
15
Are there any solutions for improving the cleft area hygiene in patients with cleft lip and palate? A systematic review. ( 30697916 )
2019
16
Experiences of caregivers of people with dementia in a Korean dementia simulation program. ( 30626192 )
2019
17
Digital depression screening in HIV primary care in South Africa: mood in retroviral + application monitoring [MIR + IAM]. ( 30854218 )
2019
18
Gender differences in loneliness, anger, depression, self-management ability and biomarkers of chronic illness in chronically ill mid-life adults in Appalachia. ( 30683252 )
2019
19
Interplay Between Helicobacter pylori Infection, Interleukin-11, and Leukemia Inhibitory Factor in Gastric Cancer Among Egyptian Patients, by Sabry D, Abdelaleem OO, Hefzy EM, Ibrahim AA, Ahmed TI, Hassan EA, Abdel-Hameed ND, Khalil MAF. J Interferon Cytokine Res 2018;38(11):517-525. DOI: 10.1089/jir.2018.0065. ( 30794008 )
2019
20
Predictors of survival outcome following radical gastrectomy for gastric cancer. ( 30690932 )
2019
21
Headache: an important symptom possibly linked to white matter lesions in thalassaemia. ( 30836423 )
2019
22
Determinants of Hepatitis C Treatment Adherence and Treatment Completion Among Veterans in the Direct Acting Antiviral Era. ( 30903364 )
2019
23
Disparities in uptake of direct-acting antiviral Therapy for Hepatitis C among people who inject drugs in a Canadian setting. ( 30653809 )
2019
24
The successful scale-up of direct-acting antiviral hepatitis C treatments will benefit from concerted investments in implementation science. ( 30623357 )
2019
25
Minute Ventilation During Hypoxia is Augmented with Capsaicin Supplementation in Aged Mice. ( 30904671 )
2019
26
Human cardiac progenitor cell activation and regeneration mechanisms: exploring a novel myocardial ischemia/reperfusion in vitro model. ( 30845956 )
2019
27
Ultra-high-dose methylcobalamin in amyotrophic lateral sclerosis: a long-term phase II/III randomised controlled study. ( 30636701 )
2019
28
FDA Approval Summary: Ivosidenib for relapsed or refractory acute myeloid leukemia with an isocitrate dehydrogenase-1 mutation. ( 30692099 )
2019
29
Treatment patterns and comparative analysis of non-intensive regimens in elderly acute myeloid leukemia patients-a real-world experience from India. ( 30697642 )
2019
30
Procedural Recommendations for Lymphoscintigraphy in the Diagnosis of Peripheral Lymphedema: the Genoa Protocol. ( 30828401 )
2019
31
Chemical composition, in vitro gas production, methane production and fatty acid profile of canola silage (Brassica napus) with four levels of molasses. ( 30820744 )
2019
32
Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy. ( 30778707 )
2019
33
Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report. ( 30627596 )
2019
34
Opioid Use in Pregnant Women and Neonatal Abstinence Syndrome-A Review of the Literature. ( 30781484 )
2019
35
How Patients of Oral Cancer Cope Up with Impact of the Disease? A Qualitative Study in Central India. ( 30820111 )
2019
36
Preliminary study on a novel minimally invasive extra-articular implant for unicompartmental knee osteoarthritis. ( 30852111 )
2019
37
Efficacy and safety of gyejigachulbutang (Gui-Zhi-Jia-Shu-Fu-Tang, Keishikajutsubuto, TJ-18) for knee pain in patients with degenerative knee osteoarthritis: a randomized, placebo-controlled, patient and assessor blinded clinical trial. ( 30782208 )
2019
38
A 3D Printed Porous Titanium Alloy Rod with Diamond Crystal Lattice for Treatment of the Early-Stage Femoral Head Osteonecrosis in Sheep. ( 30911283 )
2019
39
Development of a Transcriptional Amplification System Based on the PEG3 Promoter to Target Androgen Receptor-Positive and -Negative Prostate Cancer Cells. ( 30626088 )
2019
40
Facilitators of healthy life style behaviors in persons with schizophrenia-A qualitative feasibility pilot study. ( 30658242 )
2019
41
Prevalence of extramedullary hematopoiesis, renal cysts, splenic and hepatic lesions, and vertebral hemangiomas among thalassemic patients: a retrospective study from the Myocardial Iron Overload in Thalassemia (MIOT) network. ( 30891614 )
2019
42
Community-level chlamydial serology for assessing trachoma elimination in trachoma-endemic Niger. ( 30689671 )
2019
43
Sensitivity and specificity of computer vision classification of eyelid photographs for programmatic trachoma assessment. ( 30742639 )
2019
44
Various Manifestations Of Trachoma In Internally Displaced Rural Population - A Free Eye Camp Based Survey. ( 30868779 )
2019
45
BACE-1 and γ-Secretase as Therapeutic Targets for Alzheimer's Disease. ( 30893882 )
2019
46
Molecular evidence of field cancerization initiated by diabetes in colon cancer patients. ( 30628165 )
2019
47
Simultaneous Determination of Size and Position of Silver and Gold Nanoparticles in Onion Cells using Laser Ablation-ICP-MS. ( 30864441 )
2019
48
Monolithic capillary microextraction combined with ICP-MS for the determination of TiO2 NPs in environmental water samples. ( 30771944 )
2019
49
Study on four metal organic frameworks as cleanup adsorbents for polycyclic aromatic hydrocarbons determined by GC-MS/MS. ( 30712115 )
2019
50
Characterization and screening of metals, metalloids and biomarkers in crude oil by ICP-MS/OES, and GC-MS techniques after digestion by microwave-induced combustion. ( 30614024 )
2019
Sources

Variations for Intraocular Pressure Quantitative Trait Locus

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ClinVar genetic disease variations for Intraocular Pressure Quantitative Trait Locus:

6 (show top 50) (show all 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOC NM_000261.1(MYOC): c.227G> A (p.Arg76Lys) single nucleotide variant Benign/Likely benign rs2234926 GRCh37 Chromosome 1, 171621525: 171621525
2 MYOC NM_000261.1(MYOC): c.227G> A (p.Arg76Lys) single nucleotide variant Benign/Likely benign rs2234926 GRCh38 Chromosome 1, 171652385: 171652385
3 MYOC NM_000261.1(MYOC): c.855G> T (p.Thr285=) single nucleotide variant Benign/Likely benign rs146606638 GRCh37 Chromosome 1, 171605725: 171605725
4 MYOC NM_000261.1(MYOC): c.855G> T (p.Thr285=) single nucleotide variant Benign/Likely benign rs146606638 GRCh38 Chromosome 1, 171636585: 171636585
5 MYOC NM_000261.1(MYOC): c.823A> T (p.Lys275Ter) single nucleotide variant risk factor rs879255525 GRCh37 Chromosome 1, 171605757: 171605757
6 MYOC NM_000261.1(MYOC): c.823A> T (p.Lys275Ter) single nucleotide variant risk factor rs879255525 GRCh38 Chromosome 1, 171636617: 171636617
7 46;XX;t(X;22)(q13;q13) Translocation Uncertain significance
8 MYOC NM_000261.1(MYOC): c.*241A> G single nucleotide variant Uncertain significance rs186880389 GRCh38 Chromosome 1, 171635684: 171635684
9 MYOC NM_000261.1(MYOC): c.*241A> G single nucleotide variant Uncertain significance rs186880389 GRCh37 Chromosome 1, 171604824: 171604824
10 MYOC NM_000261.1(MYOC): c.*71G> A single nucleotide variant Uncertain significance rs886045564 GRCh38 Chromosome 1, 171635854: 171635854
11 MYOC NM_000261.1(MYOC): c.*71G> A single nucleotide variant Uncertain significance rs886045564 GRCh37 Chromosome 1, 171604994: 171604994
12 MYOC NM_000261.1(MYOC): c.1188G> A (p.Glu396=) single nucleotide variant Likely benign rs61730975 GRCh38 Chromosome 1, 171636252: 171636252
13 MYOC NM_000261.1(MYOC): c.1188G> A (p.Glu396=) single nucleotide variant Likely benign rs61730975 GRCh37 Chromosome 1, 171605392: 171605392
14 MYOC NM_000261.1(MYOC): c.865G> A (p.Asp289Asn) single nucleotide variant Uncertain significance rs767627671 GRCh38 Chromosome 1, 171636575: 171636575
15 MYOC NM_000261.1(MYOC): c.865G> A (p.Asp289Asn) single nucleotide variant Uncertain significance rs767627671 GRCh37 Chromosome 1, 171605715: 171605715
16 MYOC NM_000261.1(MYOC): c.728C> A (p.Thr243Asn) single nucleotide variant Uncertain significance rs781655611 GRCh38 Chromosome 1, 171638599: 171638599
17 MYOC NM_000261.1(MYOC): c.728C> A (p.Thr243Asn) single nucleotide variant Uncertain significance rs781655611 GRCh37 Chromosome 1, 171607739: 171607739
18 MYOC NM_000261.1(MYOC): c.39T> G (p.Pro13=) single nucleotide variant Likely benign rs12082573 GRCh38 Chromosome 1, 171652573: 171652573
19 MYOC NM_000261.1(MYOC): c.39T> G (p.Pro13=) single nucleotide variant Likely benign rs12082573 GRCh37 Chromosome 1, 171621713: 171621713
20 MYOC NM_000261.1(MYOC): c.*182C> A single nucleotide variant Uncertain significance rs886045563 GRCh38 Chromosome 1, 171635743: 171635743
21 MYOC NM_000261.1(MYOC): c.*182C> A single nucleotide variant Uncertain significance rs886045563 GRCh37 Chromosome 1, 171604883: 171604883
22 MYOC NM_000261.1(MYOC): c.1041T> C (p.Tyr347=) single nucleotide variant Benign/Likely benign rs61730974 GRCh38 Chromosome 1, 171636399: 171636399
23 MYOC NM_000261.1(MYOC): c.1041T> C (p.Tyr347=) single nucleotide variant Benign/Likely benign rs61730974 GRCh37 Chromosome 1, 171605539: 171605539
24 MYOC NM_000261.1(MYOC): c.871G> A (p.Val291Ile) single nucleotide variant Uncertain significance rs886045565 GRCh38 Chromosome 1, 171636569: 171636569
25 MYOC NM_000261.1(MYOC): c.871G> A (p.Val291Ile) single nucleotide variant Uncertain significance rs886045565 GRCh37 Chromosome 1, 171605709: 171605709
26 MYOC NM_000261.1(MYOC): c.648G> A (p.Lys216=) single nucleotide variant Uncertain significance rs141584495 GRCh38 Chromosome 1, 171638679: 171638679
27 MYOC NM_000261.1(MYOC): c.648G> A (p.Lys216=) single nucleotide variant Uncertain significance rs141584495 GRCh37 Chromosome 1, 171607819: 171607819
28 MYOC NM_000261.1(MYOC): c.335A> G (p.Glu112Gly) single nucleotide variant Uncertain significance rs886045566 GRCh38 Chromosome 1, 171652277: 171652277
29 MYOC NM_000261.1(MYOC): c.335A> G (p.Glu112Gly) single nucleotide variant Uncertain significance rs886045566 GRCh37 Chromosome 1, 171621417: 171621417
30 MYOC NM_000261.1(MYOC): c.304T> A (p.Leu102Met) single nucleotide variant Uncertain significance rs140017103 GRCh38 Chromosome 1, 171652308: 171652308
31 MYOC NM_000261.1(MYOC): c.304T> A (p.Leu102Met) single nucleotide variant Uncertain significance rs140017103 GRCh37 Chromosome 1, 171621448: 171621448
32 MYOC NM_000261.1(MYOC): c.239C> A (p.Thr80Asn) single nucleotide variant Uncertain significance rs886045567 GRCh38 Chromosome 1, 171652373: 171652373
33 MYOC NM_000261.1(MYOC): c.239C> A (p.Thr80Asn) single nucleotide variant Uncertain significance rs886045567 GRCh37 Chromosome 1, 171621513: 171621513
34 MYOC NM_000261.1(MYOC): c.114G> A (p.Arg38=) single nucleotide variant Uncertain significance rs767644139 GRCh38 Chromosome 1, 171652498: 171652498
35 MYOC NM_000261.1(MYOC): c.114G> A (p.Arg38=) single nucleotide variant Uncertain significance rs767644139 GRCh37 Chromosome 1, 171621638: 171621638
36 MYOC NM_000261.1(MYOC): c.*426C> T single nucleotide variant Uncertain significance rs142425726 GRCh38 Chromosome 1, 171635499: 171635499
37 MYOC NM_000261.1(MYOC): c.*426C> T single nucleotide variant Uncertain significance rs142425726 GRCh37 Chromosome 1, 171604639: 171604639
38 MYOC NM_000261.1(MYOC): c.*331A> G single nucleotide variant Uncertain significance rs548121911 GRCh38 Chromosome 1, 171635594: 171635594
39 MYOC NM_000261.1(MYOC): c.*331A> G single nucleotide variant Uncertain significance rs548121911 GRCh37 Chromosome 1, 171604734: 171604734
40 MYOC NM_000261.1(MYOC): c.*188C> T single nucleotide variant Uncertain significance rs886045562 GRCh38 Chromosome 1, 171635737: 171635737
41 MYOC NM_000261.1(MYOC): c.*188C> T single nucleotide variant Uncertain significance rs886045562 GRCh37 Chromosome 1, 171604877: 171604877
42 MYOC NM_000261.1(MYOC): c.992C> T (p.Ser331Leu) single nucleotide variant Uncertain significance rs775982158 GRCh38 Chromosome 1, 171636448: 171636448
43 MYOC NM_000261.1(MYOC): c.992C> T (p.Ser331Leu) single nucleotide variant Uncertain significance rs775982158 GRCh37 Chromosome 1, 171605588: 171605588
44 MYOC NM_000261.1(MYOC): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs61730976 GRCh38 Chromosome 1, 171636465: 171636465
45 MYOC NM_000261.1(MYOC): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs61730976 GRCh37 Chromosome 1, 171605605: 171605605
46 MYOC NM_000261.1(MYOC): c.568G> T (p.Asp190Tyr) single nucleotide variant Uncertain significance rs201930435 GRCh38 Chromosome 1, 171652044: 171652044
47 MYOC NM_000261.1(MYOC): c.568G> T (p.Asp190Tyr) single nucleotide variant Uncertain significance rs201930435 GRCh37 Chromosome 1, 171621184: 171621184
48 MYOC NM_000261.1(MYOC): c.224A> G (p.Gln75Arg) single nucleotide variant Uncertain significance rs886045568 GRCh38 Chromosome 1, 171652388: 171652388
49 MYOC NM_000261.1(MYOC): c.224A> G (p.Gln75Arg) single nucleotide variant Uncertain significance rs886045568 GRCh37 Chromosome 1, 171621528: 171621528
50 MYOC NM_000261.1(MYOC): c.477A> G (p.Leu159=) single nucleotide variant Likely benign rs61730977 GRCh38 Chromosome 1, 171652135: 171652135

Copy number variations for Intraocular Pressure Quantitative Trait Locus from CNVD:

7 (show all 14)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38426 10 102495457 102579688 Copy number PAX2 Glaucoma
2 61504 12 1 3100000 Copy number TULP3 Glaucoma
3 69805 12 56300000 66000000 Copy number 12orf56 Glaucoma
4 69807 12 56300000 66000000 Copy number RASSF3 Glaucoma
5 69808 12 56300000 66000000 Copy number TBK1 Glaucoma
6 69809 12 56300000 66000000 Copy number XPOT Glaucoma
7 69812 12 56300000 66000000 Duplication Glaucoma
8 88183 14 87469110 87529660 Deletion GALC Glaucoma
9 101484 16 3862993 3941884 Deletion Glaucoma
10 154919 20 5000000 17800000 Copy number PAK7 Glaucoma
11 192610 5 115200000 121500000 Copy number DMXL1 Glaucoma
12 192611 5 115200000 121500000 Copy number DTWD2 Glaucoma
13 203721 6 1 7100000 Copy number FOXC1 Glaucoma
14 203722 4 111758028 111782566 Copy number PITX2 Glaucoma
Sources

Expression for Intraocular Pressure Quantitative Trait Locus

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Search GEO for disease gene expression data for Intraocular Pressure Quantitative Trait Locus.
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Pathways for Intraocular Pressure Quantitative Trait Locus

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Pathways related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Heart Development 1
10.29 FOXC1 PITX2
Sources

GO Terms for Intraocular Pressure Quantitative Trait Locus

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Biological processes related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 8.96 FOXC1 PITX2
2 collagen fibril organization GO:0030199 8.62 CYP1B1 FOXC1

Molecular functions related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.13 FOXC1 PITX2 ZEB1
2 transcription coactivator activity GO:0003713 8.62 FOXC1 ZEB1
Sources

Sources for Intraocular Pressure Quantitative Trait Locus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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