All individuals with variants in gene MYOC

46 entries on 1 page. Showing entries 1 - 46.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00059950 - - - - - - - - - - - ? - 6 1 Ivo F.A.C. Fokkema
00059951 - PubMed: Sheffield 1993 large family, 22 affecteds - - United States - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059952 - - 2 families, 27 affecteds - - - - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059953 - - large family, ? affecteds - - United States - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059954 - - large family, 15 affecteds - - United States - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059955 - - - - - Australia - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059956 - - large family, ? affecteds - - United States - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059957 - - large family, ? affecteds - - United States - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059958 - - 227 patients with familial glaucoma - yes United States - - - - - glaucoma - 1 1 Ivo F.A.C. Fokkema
00059959 - - 103 patients with unselected glaucoma - - United States - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059960 - - 380 individials general population - - United States - - - - - ? - 1 1 Ivo F.A.C. Fokkema
00059961 - - - - - United States - - - - - ? - 1 1 Ivo F.A.C. Fokkema
00059962 - - large family, 20 affecteds, 10 healthy carriers - - France - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059963 - - - - - France - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059964 - - large family, 4 affecteds - - France - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059965 - - large family, 10 affecteds - - France - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059966 - - affected father and daugther - - Japan - - - - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00060060 - - - - - - - - - - - ? - 1 1 Ivo F.A.C. Fokkema
00208810 - - - M - Germany - - - - - - HP:0002373 (Febrile seizures); HP:0012638 (Abnormality of nervous system physiology) 1 1 Andreas Laner
00289590 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289591 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 87 Mohammed Faruq
00304161 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00363792 G485 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363793 G542 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363794 G473 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363795 G360 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363796 G127 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363797 G336 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363798 G366 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363799 G571 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363800 G346 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363801 G719 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... 1 1 LOVD
00363802 G60 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... 1 1 LOVD
00382122 74 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - OCA2 anterior segment developmental anomalies including glaucoma; MIM, 137750 or 609887 1 1 LOVD
00384399 14222 PubMed: Wang 2019 - M - China - - - - - ? - 1 1 LOVD
00390785 - PubMed: Booij-2011 - - - - - - - - - retinal disease - 1 1 LOVD
00408212 99168 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - retinal disease maximal intraocular pressure (mm Hg) right/left eye: 38/38; grade of optic disk atrophy according to Jonas ano data Papastathopoulos (normal 0, moderate cupping I, notching of the neuroretinal rim II/III, temporal neuroretinal rim loss IV, complete atrophy V): I/I; optic disk area (mm2) right/left eye: 1 1 LOVD
00408220 10033 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - retinal disease maximal intraocular pressure (mm Hg) right/left eye: no data; grade of optic disk atrophy according to Jonas ano data Papastathopoulos (normal 0, moderate cupping I, notching of the neuroretinal rim II/III, temporal neuroretinal rim loss IV, complete atrophy V): no data; optic disk area (mm2) right/left eye: 1 1 LOVD
00414366 WHP33 PubMed: Sun 2018 - M - China - - - - - ? Cataract 6;Primary Open Angle Glaucoma 1A 1 1 LOVD
00414382 WHP49 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00434077 Pat35 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral nuclear cataract 1 1 Johan den Dunnen
00434211 Fam25PatI PubMed: Jackson 2020 family M - United Kingdom (Great Britain) white - - - - ? open angle glaucoma 1 2 Johan den Dunnen
00434225 Fam25PatII PubMed: Jackson 2020 sib M - United Kingdom (Great Britain) white - - - - ? open angle glaucoma 1 1 Johan den Dunnen
00447557 LHON-1213 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00469133 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469134 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.