GLC1A
MCID: GLC041
MIFTS: 34

Glaucoma 1, Open Angle, a (GLC1A)

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

Aliases & Classifications for Glaucoma 1, Open Angle, a

MalaCards integrated aliases for Glaucoma 1, Open Angle, a:

Name: Glaucoma 1, Open Angle, a 57 20 72 29 6 70
Glc1a 57 20 72 54
Joag1 57 20 72
Glaucoma 1a, Primary Open Angle 57 13
Glaucoma, Primary Open Angle, Juvenile-Onset, 1; Joag1 57
Glaucoma, Primary Open Angle, Juvenile-Onset, 1 57
Primary Open Angle Glaucoma Juvenile Onset 1 20
Juvenile-Onset Primary Open Angle Glaucoma 1 72
Primary Open Angle Glaucoma 1a 72
Glaucoma Hereditary, Juvenile 20
Glaucoma, Open Angle, Type 1a 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
glaucoma 1, open angle, a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 137750
MeSH 44 D005902
MedGen 41 C1842028
SNOMED-CT via HPO 68 23986001 263681008 57190000
UMLS 70 C1842028

Summaries for Glaucoma 1, Open Angle, a

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98977 Definition A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. Epidemiology The disorder is estimated to occur in 0,32/100 000 individuals before the age of 20 years. Clinical description Juvenile glaucoma (JG) typically presents between the ages of 5 to 18 years, but it can appear later. Patients are initially asymptomatic and are often discovered incidentally on a routine examination. JG is generally bilateral; there can be a marked asymmetry between the two eyes. The intraocular pressure increases progressively leading to optic nerve excavation and eventually, substantial visual impairment and field loss. Etiology JG is caused by impaired outflow of aqueous humor through the trabecular meshwork and into the Schlemm canal. Mutation in MYOC (1q23-q24) genes have been found in patients with JG. MYOC gene codes for the glycoprotein myocilin that is found in the trabecular meshwork and ocular tissue and mutations are disease-causing. Diagnostic methods The diagnosis is suspected with the presence of clinical features such as increased intraocular pressure and optic nerve excavation. On gonioscopy the angle appears normal. Typical features of primary congenital glaucoma such as corneal edema and Haab's striae are not present. The refraction test reveals myopia. Typical glaucomatous field defects can be documented. Optic nerve head shows glaucomatous optic neuropathy. Differential diagnosis Differential diagnoses include other forms of open angle glaucoma that can occur at any age, late recognized congenital glaucoma, steroid induced glaucoma, traumatic glaucoma and inflammatory glaucoma. Genetic counseling Transmission is autosomal dominant with high penetrance. Genetic testing can be used to identify family members at risk of developing JG. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring. Management and treatment Medical therapy (carbonic anhydrase inhibitors, beta blockers, prostaglandin analogues) is often useful in the treatment of JG. When the condition becomes unresponsive to medications, angle surgery (goniotomy, trabeculotomy), filtration surgery (trabeculectomy), LASER treatment (angle laser surgery or cyclodiode laser therapy) and/or aqueous shunt devices can be considered. Prognosis Prognosis is good in patients diagnosed and treated early. Without treatment, the evolution towards blindness is possible.

MalaCards based summary : Glaucoma 1, Open Angle, a, also known as glc1a, is related to open-angle glaucoma and intraocular pressure quantitative trait locus. An important gene associated with Glaucoma 1, Open Angle, a is MYOC (Myocilin). Affiliated tissues include eye and brain, and related phenotypes are myopia and glaucoma

UniProtKB/Swiss-Prot : 72 Glaucoma 1, open angle, A: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.

More information from OMIM: 137750

Related Diseases for Glaucoma 1, Open Angle, a

Diseases in the Open-Angle Glaucoma family:

Glaucoma 1, Open Angle, a Glaucoma, Primary Open Angle
Glaucoma 1, Open Angle, P Glaucoma 1, Primary Open Angle, C
Glaucoma 1, Open Angle, D Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, B Glaucoma 1, Open Angle, J
Glaucoma 1, Open Angle, K Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, G Glaucoma 1, Open Angle, M
Glaucoma 1, Open Angle, N Glaucoma 1, Open Angle, H
Glaucoma 1, Open Angle, O

Diseases related to Glaucoma 1, Open Angle, a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 open-angle glaucoma 30.1 OPTN MYOC CYP1B1
2 intraocular pressure quantitative trait locus 30.1 OPTN MYOC CYP1B1
3 glaucoma, primary open angle 30.0 OPTN MYOC CYP1B1
4 ocular hypertension 30.0 OPTN MYOC
5 optic nerve disease 29.8 OPTN MYOC
6 juvenile glaucoma 29.7 OPTN MYOC CYP1B1
7 glaucoma 1, open angle, d 29.3 OPTN MYOC CYP1B1
8 glaucoma, hereditary juvenile type 1b 11.2
9 yemenite deaf-blind hypopigmentation syndrome 10.0
10 phacogenic glaucoma 9.9 OPTN MYOC
11 3-methylglutaconic aciduria, type iii 9.9
12 glaucoma, primary closed-angle 9.9
13 neuropathy 9.9
14 cranial nerve disease 9.9 OPTN MYOC
15 traumatic glaucoma 9.8 MYOC CYP1B1
16 early-onset glaucoma 9.8 MYOC CYP1B1
17 excessive tearing 9.8 MYOC CYP1B1
18 microphthalmia, isolated 2 9.8 MYOC CYP1B1
19 hydrophthalmos 9.7 MYOC CYP1B1
20 steroid-induced glaucoma 9.7 MYOC CYP1B1
21 megalocornea 9.7 MYOC CYP1B1
22 corneal edema 9.7 MYOC CYP1B1
23 iris disease 9.7 MYOC CYP1B1
24 axenfeld-rieger syndrome 9.7 MYOC CYP1B1
25 aniridia 1 9.7 MYOC CYP1B1
26 keratitis, hereditary 9.6 MYOC CYP1B1
27 anterior segment dysgenesis 9.6 MYOC CYP1B1
28 retinal disease 9.6 OPTN MYOC
29 peters-plus syndrome 9.5 MYOC CYP1B1
30 acute closed-angle glaucoma 9.5 OPTN MYOC CYP1B1
31 glaucoma-related pigment dispersion syndrome 9.5 OPTN MYOC CYP1B1
32 primary congenital glaucoma 9.5 OPTN MYOC CYP1B1
33 primary angle-closure glaucoma 9.5 OPTN MYOC CYP1B1
34 glaucoma, normal tension 9.5 OPTN MYOC CYP1B1
35 glaucoma 3, primary congenital, a 9.5 OPTN MYOC CYP1B1
36 eye disease 9.4 OPTN MYOC CYP1B1

Graphical network of the top 20 diseases related to Glaucoma 1, Open Angle, a:



Diseases related to Glaucoma 1, Open Angle, a

Symptoms & Phenotypes for Glaucoma 1, Open Angle, a

Human phenotypes related to Glaucoma 1, Open Angle, a:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 glaucoma 31 HP:0000501
3 abnormal iris vasculature 31 HP:0007905

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
myopia
glaucoma, open-angle

Clinical features from OMIM®:

137750 (Updated 20-May-2021)

Drugs & Therapeutics for Glaucoma 1, Open Angle, a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Ganglion Cell and Retinal Nerve Fiber Layer Thickness in Primary Open Angle Glaucoma and Normal Tension Glaucoma With Spectral Domain OCT Completed NCT01612416

Search NIH Clinical Center for Glaucoma 1, Open Angle, a

Genetic Tests for Glaucoma 1, Open Angle, a

Genetic tests related to Glaucoma 1, Open Angle, a:

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, a 29 MYOC

Anatomical Context for Glaucoma 1, Open Angle, a

MalaCards organs/tissues related to Glaucoma 1, Open Angle, a:

40
Eye, Brain

Publications for Glaucoma 1, Open Angle, a

Articles related to Glaucoma 1, Open Angle, a:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) 6 57 54 61
9535666 1998
2
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. 61 57 6
11535458 2001
3
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. 57 6
17499207 2007
4
Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 57 6
15025728 2004
5
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. 57 6
8513321 1993
6
HEREDITARY GLAUCOMA OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILY. 6 57
14193667 1964
7
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. 6 54 61
9754180 1998
8
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. 54 6 61
9556305 1998
9
Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. 61 54 57
8684791 1996
10
A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. 54 61 57
7762566 1995
11
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 61 6
11004290 2000
12
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. 61 6
9328473 1997
13
Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. 6 54
9361308 1997
14
Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy. 61 57
9222961 1997
15
Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25. 57 61
9119372 1997
16
Identification of a gene that causes primary open angle glaucoma. 61 57
9005853 1997
17
Primary open-angle glaucoma. 57
19279343 2009
18
Myocilin variants in Indian patients with open-angle glaucoma. 57
17562996 2007
19
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. 57
17317787 2007
20
The optic nerve head in myocilin glaucoma. 57
17197538 2007
21
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. 6
17210859 2007
22
Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. 57
16954374 2006
23
Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. 6
16401791 2006
24
Evidence for a novel glaucoma locus at chromosome 3p21-22. 57
15906098 2005
25
Myocilin gene implicated in primary congenital glaucoma. 6
15733270 2005
26
Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice. 57
15623777 2005
27
Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. 57
15456875 2004
28
A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. 57
15108121 2004
29
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. 6
12522550 2003
30
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 57
11774072 2002
31
Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. 57
11709019 2001
32
The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma. 6
11292420 2001
33
Genetic screening in a large family with juvenile onset primary open angle glaucoma. 6
10873982 2000
34
Novel mutation in the MYOC gene in primary open glaucoma patients. 6
10819638 2000
35
Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. 57
10330365 1999
36
Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. 6
9697688 1998
37
The search for glaucoma genes--implications for pathogenesis and disease detection. 57
9535674 1998
38
Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. 6
9345106 1997
39
Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. 57
8637692 1996
40
Number of people with glaucoma worldwide. 57
8695555 1996
41
The distinction between juvenile and adult-onset primary open-angle glaucoma. 57
8554064 1996
42
Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. 57
9098278 1995
43
Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. 57
7649543 1995
44
[Linkage between juvenile glaucoma and chromosome 1q in 2 French families]. 57
7987708 1994
45
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. 57
8088822 1994
46
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq. 57
8279471 1994
47
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. 57
8479711 1993
48
Juvenile glaucoma, race, and refraction. 57
2909022 1989
49
Autosomal dominant juvenile onset glaucoma affecting six generations in an Edinburgh family. 6
3756132 1986
50
Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. 6
6770678 1980

Variations for Glaucoma 1, Open Angle, a

ClinVar genetic disease variations for Glaucoma 1, Open Angle, a:

6 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYOC NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser) SNV Pathogenic 7950 rs74315331 GRCh37: 1:171605150-171605150
GRCh38: 1:171636010-171636010
2 MYOC NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys) SNV Pathogenic 7951 rs74315332 GRCh37: 1:171605140-171605140
GRCh38: 1:171636000-171636000
3 MYOC NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg) SNV Pathogenic 7952 rs74315334 GRCh37: 1:171605481-171605481
GRCh38: 1:171636341-171636341
4 MYOC NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg) SNV Pathogenic 7953 rs74315335 GRCh37: 1:171605570-171605570
GRCh38: 1:171636430-171636430
5 MYOC NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu) SNV Pathogenic 7954 rs74315336 GRCh37: 1:171605313-171605313
GRCh38: 1:171636173-171636173
6 MYOC NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) SNV Pathogenic 7956 rs74315338 GRCh37: 1:171605283-171605283
GRCh38: 1:171636143-171636143
7 MYOC NM_000261.2(MYOC):c.144G>T (p.Gln48His) SNV Pathogenic 7958 rs74315339 GRCh37: 1:171621608-171621608
GRCh38: 1:171652468-171652468
8 MYOC NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr) SNV Pathogenic 7959 rs74315340 GRCh37: 1:171605846-171605846
GRCh38: 1:171636706-171636706
9 MYOC NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) SNV Pathogenic 7960 rs74315341 GRCh37: 1:171605826-171605826
GRCh38: 1:171636686-171636686
10 MYOC NM_000261.2(MYOC):c.1138G>C (p.Asp380His) SNV Pathogenic 7961 rs121909194 GRCh37: 1:171605442-171605442
GRCh38: 1:171636302-171636302
11 MYOC NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn) SNV Pathogenic 30205 rs74315331 GRCh37: 1:171605150-171605150
GRCh38: 1:171636010-171636010
12 MYOC NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) SNV Pathogenic 7946 rs74315328 GRCh37: 1:171605271-171605271
GRCh38: 1:171636131-171636131
13 MYOC NM_000261.2(MYOC):c.1091G>T (p.Gly364Val) SNV Pathogenic 7947 rs121909193 GRCh37: 1:171605489-171605489
GRCh38: 1:171636349-171636349
14 MYOC NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) SNV Pathogenic 7948 rs74315330 GRCh37: 1:171605471-171605471
GRCh38: 1:171636331-171636331
15 MYOC NM_000261.2(MYOC):c.1357del (p.Tyr453fs) Deletion Pathogenic 1028647 GRCh37: 1:171605223-171605223
GRCh38: 1:171636083-171636083
16 MYOC NM_000261.2(MYOC):c.439C>T (p.Arg147Ter) SNV Pathogenic 1029746 GRCh37: 1:171621313-171621313
GRCh38: 1:171652173-171652173
17 MYOC NM_000261.2(MYOC):c.271C>T (p.Arg91Ter) SNV Pathogenic 1032275 GRCh37: 1:171621481-171621481
GRCh38: 1:171652341-171652341
18 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Pathogenic/Likely pathogenic 7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
19 MYOC NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) SNV Conflicting interpretations of pathogenicity 7955 rs74315337 GRCh37: 1:171621616-171621616
GRCh38: 1:171652476-171652476
20 MYOC NM_000261.2(MYOC):c.612G>A (p.Thr204=) SNV Uncertain significance 876021 GRCh37: 1:171607855-171607855
GRCh38: 1:171638715-171638715
21 MYOC NM_000261.2(MYOC):c.611C>T (p.Thr204Met) SNV Uncertain significance 876022 GRCh37: 1:171607856-171607856
GRCh38: 1:171638716-171638716
22 MYOC NM_000261.2(MYOC):c.1053C>T (p.Thr351=) SNV Uncertain significance 875956 GRCh37: 1:171605527-171605527
GRCh38: 1:171636387-171636387
23 MYOC NM_000261.2(MYOC):c.878C>A (p.Thr293Lys) SNV Uncertain significance 876939 GRCh37: 1:171605702-171605702
GRCh38: 1:171636562-171636562
24 MYOC NM_000261.2(MYOC):c.600A>G (p.Arg200=) SNV Uncertain significance 876999 GRCh37: 1:171621152-171621152
GRCh38: 1:171652012-171652012
25 MYOC NM_000261.2(MYOC):c.573T>A (p.Thr191=) SNV Uncertain significance 877000 GRCh37: 1:171621179-171621179
GRCh38: 1:171652039-171652039
26 MYOC NM_000261.2(MYOC):c.31T>C (p.Phe11Leu) SNV Uncertain significance 877041 GRCh37: 1:171621721-171621721
GRCh38: 1:171652581-171652581
27 MYOC NM_000261.2(MYOC):c.*71G>A SNV Uncertain significance 293707 rs886045564 GRCh37: 1:171604994-171604994
GRCh38: 1:171635854-171635854
28 MYOC NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys) SNV Uncertain significance 625855 rs1033533679 GRCh37: 1:171605427-171605427
GRCh38: 1:171636287-171636287
29 MYOC NM_000261.2(MYOC):c.*273G>A SNV Uncertain significance 874097 GRCh37: 1:171604792-171604792
GRCh38: 1:171635652-171635652
30 MYOC NM_000261.2(MYOC):c.473G>A (p.Arg158Gln) SNV Uncertain significance 874204 GRCh37: 1:171621279-171621279
GRCh38: 1:171652139-171652139
31 MYOC NM_000261.2(MYOC):c.369C>T (p.Thr123=) SNV Uncertain significance 874205 GRCh37: 1:171621383-171621383
GRCh38: 1:171652243-171652243
32 MYOC NM_000261.2(MYOC):c.1345G>A (p.Val449Ile) SNV Uncertain significance 875033 GRCh37: 1:171605235-171605235
GRCh38: 1:171636095-171636095
33 MYOC NM_000261.2(MYOC):c.801T>C (p.Tyr267=) SNV Uncertain significance 875083 GRCh37: 1:171605779-171605779
GRCh38: 1:171636639-171636639
34 MYOC NM_000261.2(MYOC):c.652G>A (p.Glu218Lys) SNV Uncertain significance 875084 GRCh37: 1:171607815-171607815
GRCh38: 1:171638675-171638675
35 MYOC NM_000261.2(MYOC):c.1272G>C (p.Gln424His) SNV Uncertain significance 875954 GRCh37: 1:171605308-171605308
GRCh38: 1:171636168-171636168
36 MYOC NM_000261.2(MYOC):c.*188C>T SNV Uncertain significance 293705 rs886045562 GRCh37: 1:171604877-171604877
GRCh38: 1:171635737-171635737
37 MYOC NM_000261.2(MYOC):c.728C>A (p.Thr243Asn) SNV Uncertain significance 293714 rs781655611 GRCh37: 1:171607739-171607739
GRCh38: 1:171638599-171638599
38 MYOC NM_000261.2(MYOC):c.865G>A (p.Asp289Asn) SNV Uncertain significance 293713 rs767627671 GRCh37: 1:171605715-171605715
GRCh38: 1:171636575-171636575
39 MYOC NM_000261.2(MYOC):c.*331A>G SNV Uncertain significance 293703 rs548121911 GRCh37: 1:171604734-171604734
GRCh38: 1:171635594-171635594
40 MYOC NM_000261.2(MYOC):c.*426C>T SNV Uncertain significance 293702 rs142425726 GRCh37: 1:171604639-171604639
GRCh38: 1:171635499-171635499
41 MYOC NM_000261.2(MYOC):c.648G>A (p.Lys216=) SNV Uncertain significance 293715 rs141584495 GRCh37: 1:171607819-171607819
GRCh38: 1:171638679-171638679
42 MYOC NM_000261.2(MYOC):c.*182C>A SNV Uncertain significance 293706 rs886045563 GRCh37: 1:171604883-171604883
GRCh38: 1:171635743-171635743
43 MYOC NM_000261.2(MYOC):c.440G>A (p.Arg147Gln) SNV Uncertain significance 293718 rs114283307 GRCh37: 1:171621312-171621312
GRCh38: 1:171652172-171652172
44 MYOC NM_000261.2(MYOC):c.114G>A (p.Arg38=) SNV Uncertain significance 293723 rs767644139 GRCh37: 1:171621638-171621638
GRCh38: 1:171652498-171652498
45 MYOC NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr) SNV Uncertain significance 293716 rs201930435 GRCh37: 1:171621184-171621184
GRCh38: 1:171652044-171652044
46 MYOC NM_000261.2(MYOC):c.871G>A (p.Val291Ile) SNV Uncertain significance 293712 rs886045565 GRCh37: 1:171605709-171605709
GRCh38: 1:171636569-171636569
47 MYOC NM_000261.2(MYOC):c.224A>G (p.Gln75Arg) SNV Uncertain significance 293722 rs886045568 GRCh37: 1:171621528-171621528
GRCh38: 1:171652388-171652388
48 MYOC NM_000261.2(MYOC):c.239C>A (p.Thr80Asn) SNV Uncertain significance 293721 rs886045567 GRCh37: 1:171621513-171621513
GRCh38: 1:171652373-171652373
49 MYOC NM_000261.2(MYOC):c.*241A>G SNV Uncertain significance 293704 rs186880389 GRCh37: 1:171604824-171604824
GRCh38: 1:171635684-171635684
50 MYOC NM_000261.2(MYOC):c.304T>A (p.Leu102Met) SNV Uncertain significance 293720 rs140017103 GRCh37: 1:171621448-171621448
GRCh38: 1:171652308-171652308

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 1, Open Angle, a:

72 (show top 50) (show all 58)
# Symbol AA change Variation ID SNP ID
1 CYP1B1 p.Arg368His VAR_016034 rs79204362
2 MYOC p.Gly246Arg VAR_005468
3 MYOC p.Gln337Arg VAR_005469 rs74315335
4 MYOC p.Gly364Val VAR_005470 rs121909193
5 MYOC p.Gly367Arg VAR_005471 rs74315334
6 MYOC p.Pro370Leu VAR_005472 rs74315330
7 MYOC p.Val426Phe VAR_005473
8 MYOC p.Tyr437His VAR_005474 rs74315328
9 MYOC p.Ile477Ser VAR_005475 rs74315331
10 MYOC p.Asn480Lys VAR_005476 rs74315332
11 MYOC p.Ile499Phe VAR_005477
12 MYOC p.Val53Ala VAR_008969 rs200208925
13 MYOC p.Cys433Arg VAR_008970 rs74315338
14 MYOC p.Arg82Cys VAR_009671 rs764005392
15 MYOC p.Trp286Arg VAR_009675 rs135132895
16 MYOC p.Thr293Lys VAR_009676 rs139122673
17 MYOC p.Pro361Ser VAR_009680 rs134403993
18 MYOC p.Thr377Met VAR_009681 rs566289099
19 MYOC p.Asp380Ala VAR_009682
20 MYOC p.Asp380Gly VAR_009683
21 MYOC p.Ser393Arg VAR_009684 rs998968146
22 MYOC p.Arg422His VAR_009688 rs201573718
23 MYOC p.Lys423Glu VAR_009689 rs74315336
24 MYOC p.Ala445Val VAR_009691 rs140967767
25 MYOC p.Ile465Met VAR_009692
26 MYOC p.Arg470Cys VAR_009693 rs771122834
27 MYOC p.Ile477Asn VAR_009695 rs74315331
28 MYOC p.Pro481Leu VAR_009696
29 MYOC p.Pro481Thr VAR_009697
30 MYOC p.Ser502Pro VAR_009700
31 MYOC p.Cys25Arg VAR_054271 rs755246983
32 MYOC p.Gln48His VAR_054272 rs74315339
33 MYOC p.Arg126Trp VAR_054277 rs200120115
34 MYOC p.Arg158Gln VAR_054278 rs199746824
35 MYOC p.Cys245Tyr VAR_054281 rs74315340
36 MYOC p.Val251Ala VAR_054282
37 MYOC p.Gly252Arg VAR_054283 rs74315341
38 MYOC p.Glu261Lys VAR_054284 rs982896610
39 MYOC p.Pro274Arg VAR_054286
40 MYOC p.Glu323Lys VAR_054288
41 MYOC p.Gln337Glu VAR_054289
42 MYOC p.Ser341Pro VAR_054290
43 MYOC p.Arg342Lys VAR_054291
44 MYOC p.Ile345Met VAR_054292
45 MYOC p.Ile360Asn VAR_054293
46 MYOC p.Ala363Thr VAR_054294
47 MYOC p.Phe369Leu VAR_054295
48 MYOC p.Thr377Lys VAR_054296
49 MYOC p.Asp380His VAR_054297 rs121909194
50 MYOC p.Asp380Asn VAR_054298

Expression for Glaucoma 1, Open Angle, a

Search GEO for disease gene expression data for Glaucoma 1, Open Angle, a.

Pathways for Glaucoma 1, Open Angle, a

GO Terms for Glaucoma 1, Open Angle, a

Sources for Glaucoma 1, Open Angle, a

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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