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GLC1F
MCID: GLC078
MIFTS: 31

Glaucoma 1, Open Angle, F (GLC1F)

Categories: Eye diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Glaucoma 1, Open Angle, F

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

Name: Glaucoma 1, Open Angle, F 57 75 29 13 6 73
Glc1f 57 75
Glaucoma, Primary Open Angle, Adult-Onset 57
Adult-Onset Primary Open Angle Glaucoma 75
Primary Open Angle Glaucoma 1f 75
Glaucoma, Primary Open Angle 73
Poag 75

Characteristics:

HPO:

32
glaucoma 1, open angle, f:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 603383
MedGen 42 C1863926
MeSH 44 D005902
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Summaries for Glaucoma 1, Open Angle, F

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UniProtKB/Swiss-Prot : 75 Glaucoma 1, open angle, F: 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.

MalaCards based summary : Glaucoma 1, Open Angle, F, also known as glc1f, is related to glaucoma, primary open angle and glaucoma 1, open angle, d. An important gene associated with Glaucoma 1, Open Angle, F is ASB10 (Ankyrin Repeat And SOCS Box Containing 10). Affiliated tissues include eye and bone, and related phenotypes are increased intraocular pressure and open angle glaucoma

Description from OMIM: 603383
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Related Diseases for Glaucoma 1, Open Angle, F

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Diseases in the Glaucoma 1, Open Angle, D family:

Glaucoma 1, Primary Open Angle, C Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, B Glaucoma 1, Open Angle, G

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 glaucoma, primary open angle 12.2
2 glaucoma 1, open angle, d 11.8
3 glaucoma 3, primary congenital, a 11.6
4 glaucoma 1, open angle, p 11.3
5 glaucoma 1, open angle, a 11.2
6 glaucoma 1, open angle, g 11.2
7 glaucoma 1, open angle, o 11.2
8 adamantinoma of long bones 11.0
9 open-angle glaucoma 10.7
10 juvenile glaucoma 10.1
11 exfoliation syndrome 10.0
12 ocular hypertension 10.0

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



Diseases related to Glaucoma 1, Open Angle, F
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Symptoms & Phenotypes for Glaucoma 1, Open Angle, F

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Clinical features from OMIM:

603383

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

32
# Description HPO Frequency HPO Source Accession
1 increased intraocular pressure 32 HP:0007906
2 open angle glaucoma 32 HP:0012108
3 increased cup-to-disc ratio 32 HP:0012796
4 glaucomatous visual field defect 32 HP:0007854
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Drugs & Therapeutics for Glaucoma 1, Open Angle, F

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Search Clinical Trials , NIH Clinical Center for Glaucoma 1, Open Angle, F

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Genetic Tests for Glaucoma 1, Open Angle, F

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

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, F 29 ASB10
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Anatomical Context for Glaucoma 1, Open Angle, F

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

41
Eye, Bone
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Publications for Glaucoma 1, Open Angle, F

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Articles related to Glaucoma 1, Open Angle, F:

(show all 15)
# Title Authors Year
1
Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population. ( 23206929 )
2013
2
Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma. ( 22222511 )
2012
3
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. ( 17563717 )
2007
4
A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region. ( 17210857 )
2007
5
Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family. ( 16374045 )
2006
6
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. ( 15677485 )
2005
7
Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. ( 15823921 )
2005
8
Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. ( 12912697 )
2003
9
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. ( 11834836 )
2002
10
The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma. ( 10974305 )
2000
11
GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. ( 10037570 )
1999
12
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. ( 9497264 )
1998
13
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. ( 9012402 )
1997
14
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. ( 8812425 )
1996
15
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. ( 9004141 )
1996
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Variations for Glaucoma 1, Open Angle, F

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

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASB10 NM_080871.3(ASB10): c.574G> C (p.Val192Leu) single nucleotide variant Pathogenic rs104886474 GRCh37 Chromosome 7, 150878511: 150878511
2 ASB10 NM_080871.3(ASB10): c.574G> C (p.Val192Leu) single nucleotide variant Pathogenic rs104886474 GRCh38 Chromosome 7, 151181424: 151181424
3 ASB10 NM_080871.3(ASB10): c.765C> T (p.Thr255=) single nucleotide variant Pathogenic rs104886478 GRCh37 Chromosome 7, 150878320: 150878320
4 ASB10 NM_080871.3(ASB10): c.765C> T (p.Thr255=) single nucleotide variant Pathogenic rs104886478 GRCh38 Chromosome 7, 151181233: 151181233
5 ASB10 NM_080871.3(ASB10): c.519C> A (p.Cys173Ter) single nucleotide variant Pathogenic rs151344606 GRCh37 Chromosome 7, 150883499: 150883499
6 ASB10 NM_080871.3(ASB10): c.519C> A (p.Cys173Ter) single nucleotide variant Pathogenic rs151344606 GRCh38 Chromosome 7, 151186412: 151186412
7 ASB10 NM_001142459.1(ASB10): c.215G> A (p.Arg72His) single nucleotide variant Pathogenic rs104886488 GRCh37 Chromosome 7, 150884003: 150884003
8 ASB10 NM_001142459.1(ASB10): c.215G> A (p.Arg72His) single nucleotide variant Pathogenic rs104886488 GRCh38 Chromosome 7, 151186916: 151186916
9 ASB10 NM_001142459.1(ASB10): c.224C> A (p.Ala75Glu) single nucleotide variant not provided rs104886489 GRCh37 Chromosome 7, 150883994: 150883994
10 ASB10 NM_001142459.1(ASB10): c.224C> A (p.Ala75Glu) single nucleotide variant not provided rs104886489 GRCh38 Chromosome 7, 151186907: 151186907
11 ASB10 NM_001142459.1(ASB10): c.271G> T (p.Asp91Tyr) single nucleotide variant not provided rs104886490 GRCh37 Chromosome 7, 150883947: 150883947
12 ASB10 NM_001142459.1(ASB10): c.271G> T (p.Asp91Tyr) single nucleotide variant not provided rs104886490 GRCh38 Chromosome 7, 151186860: 151186860
13 ASB10 NM_080871.3(ASB10): c.1001T> C (p.Val334Ala) single nucleotide variant not provided rs104886483 GRCh37 Chromosome 7, 150878084: 150878084
14 ASB10 NM_080871.3(ASB10): c.1001T> C (p.Val334Ala) single nucleotide variant not provided rs104886483 GRCh38 Chromosome 7, 151180997: 151180997
15 ASB10 NM_080871.3(ASB10): c.1033C> T (p.Arg345Cys) single nucleotide variant not provided rs104886484 GRCh37 Chromosome 7, 150878052: 150878052
16 ASB10 NM_080871.3(ASB10): c.1033C> T (p.Arg345Cys) single nucleotide variant not provided rs104886484 GRCh38 Chromosome 7, 151180965: 151180965
17 ASB10 NM_080871.3(ASB10): c.1051C> T (p.Leu351Phe) single nucleotide variant not provided rs104886485 GRCh37 Chromosome 7, 150878034: 150878034
18 ASB10 NM_080871.3(ASB10): c.1051C> T (p.Leu351Phe) single nucleotide variant not provided rs104886485 GRCh38 Chromosome 7, 151180947: 151180947
19 ASB10 NM_080871.3(ASB10): c.115C> T (p.Arg39Trp) single nucleotide variant not provided rs104886466 GRCh37 Chromosome 7, 150884695: 150884695
20 ASB10 NM_080871.3(ASB10): c.115C> T (p.Arg39Trp) single nucleotide variant not provided rs104886466 GRCh38 Chromosome 7, 151187608: 151187608
21 ASB10 NM_080871.3(ASB10): c.116G> A (p.Arg39Gln) single nucleotide variant not provided rs104886467 GRCh37 Chromosome 7, 150884694: 150884694
22 ASB10 NM_080871.3(ASB10): c.116G> A (p.Arg39Gln) single nucleotide variant not provided rs104886467 GRCh38 Chromosome 7, 151187607: 151187607
23 ASB10 NM_080871.3(ASB10): c.1227G> A (p.Ser409=) single nucleotide variant not provided rs104886486 GRCh37 Chromosome 7, 150873331: 150873331
24 ASB10 NM_080871.3(ASB10): c.1227G> A (p.Ser409=) single nucleotide variant not provided rs104886486 GRCh38 Chromosome 7, 151176244: 151176244
25 ASB10 NM_080871.3(ASB10): c.1273A> G (p.Ser425Gly) single nucleotide variant not provided rs104886487 GRCh37 Chromosome 7, 150873285: 150873285
26 ASB10 NM_080871.3(ASB10): c.1273A> G (p.Ser425Gly) single nucleotide variant not provided rs104886487 GRCh38 Chromosome 7, 151176198: 151176198
27 ASB10 NM_080871.3(ASB10): c.176T> C (p.Leu59Pro) single nucleotide variant not provided rs104886468 GRCh37 Chromosome 7, 150884634: 150884634
28 ASB10 NM_080871.3(ASB10): c.176T> C (p.Leu59Pro) single nucleotide variant not provided rs104886468 GRCh38 Chromosome 7, 151187547: 151187547
29 ASB10 NM_080871.3(ASB10): c.204G> T (p.Pro68=) single nucleotide variant not provided rs104886469 GRCh37 Chromosome 7, 150884606: 150884606
30 ASB10 NM_080871.3(ASB10): c.204G> T (p.Pro68=) single nucleotide variant not provided rs104886469 GRCh38 Chromosome 7, 151187519: 151187519
31 ASB10 NM_080871.3(ASB10): c.425C> T (p.Ala142Val) single nucleotide variant not provided rs77615410 GRCh37 Chromosome 7, 150883593: 150883593
32 ASB10 NM_080871.3(ASB10): c.425C> T (p.Ala142Val) single nucleotide variant not provided rs77615410 GRCh38 Chromosome 7, 151186506: 151186506
33 ASB10 NM_080871.3(ASB10): c.442T> A (p.Cys148Ser) single nucleotide variant not provided rs104886470 GRCh37 Chromosome 7, 150883576: 150883576
34 ASB10 NM_080871.3(ASB10): c.442T> A (p.Cys148Ser) single nucleotide variant not provided rs104886470 GRCh38 Chromosome 7, 151186489: 151186489
35 ASB10 NM_080871.3(ASB10): c.471C> T (p.Ala157=) single nucleotide variant not provided rs104886471 GRCh37 Chromosome 7, 150883547: 150883547
36 ASB10 NM_080871.3(ASB10): c.471C> T (p.Ala157=) single nucleotide variant not provided rs104886471 GRCh38 Chromosome 7, 151186460: 151186460
37 ASB10 NM_080871.3(ASB10): c.479A> C (p.Asn160Thr) single nucleotide variant not provided rs104886472 GRCh37 Chromosome 7, 150883539: 150883539
38 ASB10 NM_080871.3(ASB10): c.479A> C (p.Asn160Thr) single nucleotide variant not provided rs104886472 GRCh38 Chromosome 7, 151186452: 151186452
39 ASB10 NM_080871.3(ASB10): c.520C> T (p.Arg174Trp) single nucleotide variant not provided rs104886473 GRCh37 Chromosome 7, 150883498: 150883498
40 ASB10 NM_080871.3(ASB10): c.520C> T (p.Arg174Trp) single nucleotide variant not provided rs104886473 GRCh38 Chromosome 7, 151186411: 151186411
41 ASB10 NM_080871.3(ASB10): c.55C> T (p.Pro19Ser) single nucleotide variant not provided rs104886462 GRCh37 Chromosome 7, 150884755: 150884755
42 ASB10 NM_080871.3(ASB10): c.55C> T (p.Pro19Ser) single nucleotide variant not provided rs104886462 GRCh38 Chromosome 7, 151187668: 151187668
43 ASB10 NM_080871.3(ASB10): c.56C> G (p.Pro19Arg) single nucleotide variant not provided rs104886463 GRCh37 Chromosome 7, 150884754: 150884754
44 ASB10 NM_080871.3(ASB10): c.56C> G (p.Pro19Arg) single nucleotide variant not provided rs104886463 GRCh38 Chromosome 7, 151187667: 151187667
45 ASB10 NM_080871.3(ASB10): c.60C> T (p.Ser20=) single nucleotide variant not provided rs104886464 GRCh37 Chromosome 7, 150884750: 150884750
46 ASB10 NM_080871.3(ASB10): c.60C> T (p.Ser20=) single nucleotide variant not provided rs104886464 GRCh38 Chromosome 7, 151187663: 151187663
47 ASB10 NM_080871.3(ASB10): c.686G> A (p.Arg229His) single nucleotide variant not provided rs104886476 GRCh37 Chromosome 7, 150878399: 150878399
48 ASB10 NM_080871.3(ASB10): c.686G> A (p.Arg229His) single nucleotide variant not provided rs104886476 GRCh38 Chromosome 7, 151181312: 151181312
49 ASB10 NM_080871.3(ASB10): c.692C> A (p.Ala231Asp) single nucleotide variant not provided rs104886477 GRCh37 Chromosome 7, 150878393: 150878393
50 ASB10 NM_080871.3(ASB10): c.692C> A (p.Ala231Asp) single nucleotide variant not provided rs104886477 GRCh38 Chromosome 7, 151181306: 151181306
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Expression for Glaucoma 1, Open Angle, F

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

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GO Terms for Glaucoma 1, Open Angle, F

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Sources for Glaucoma 1, Open Angle, F

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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