All individuals with variants in gene MYOC

40 entries on 1 page. Showing entries 1 - 40.
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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 - - - - - - - - 0 - - ? - 6 1 Ivo F.A.C. Fokkema
00059951 - PubMed: Sheffield 1993 large family, 22 affecteds - - United States - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059952 - - 2 families, 27 affecteds - - - - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059953 - - large family, ? affecteds - - United States - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059954 - - large family, 15 affecteds - - United States - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059955 - - - - - Australia - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059956 - - large family, ? affecteds - - United States - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059957 - - large family, ? affecteds - - United States - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059958 - - 227 patients with familial glaucoma - yes United States - - 0 - - glaucoma - 1 1 Ivo F.A.C. Fokkema
00059959 - - 103 patients with unselected glaucoma - - United States - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059960 - - 380 individials general population - - United States - - 0 - - ? - 1 1 Ivo F.A.C. Fokkema
00059961 - - - - - United States - - 0 - - ? - 1 1 Ivo F.A.C. Fokkema
00059962 - - large family, 20 affecteds, 10 healthy carriers - - France - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059963 - - - - - France - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059964 - - large family, 4 affecteds - - France - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059965 - - large family, 10 affecteds - - France - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00059966 - - affected father and daugther - - Japan - - 0 - - GLC1A - 1 1 Ivo F.A.C. Fokkema
00060060 - - - - - - - - 0 - - ? - 1 1 Ivo F.A.C. Fokkema
00208810 - - - M - Germany - - 0 - - - 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 - - 0 - - ? - 1 1 Mohammed Faruq
00289591 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 87 Mohammed Faruq
00304161 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00363792 G485 PubMed: Huang 2014 - M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363793 G542 PubMed: Huang 2014 - M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363794 G473 PubMed: Huang 2014 - F - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363795 G360 PubMed: Huang 2014 - F - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363796 G127 PubMed: Huang 2014 - F - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363797 G336 PubMed: Huang 2014 - M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363798 G366 PubMed: Huang 2014 - F - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363799 G571 PubMed: Huang 2014 - F - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363800 G346 PubMed: Huang 2014 - M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363801 G719 PubMed: Huang 2014 - M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00363802 G60 PubMed: Huang 2014 - M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00380445 WHP33 PubMed: Sun 2018 - M - China - - 0 - - ? Cataract 6;Primary Open Angle Glaucoma 1A 1 1 LOVD
00380454 WHP49 PubMed: Sun 2018 - M - China - - 0 - - ? - 1 1 LOVD
00382122 74 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - OCA2 anterior segment developmental anomalies including glaucoma; MIM, 137750 or 609887 1 1 LOVD
00384399 14222 PubMed: Wang 2019 - M - China - - 0 - - ? - 1 1 LOVD
00390785 - PubMed: Booij-2011 - - - - - - 0 - - retinal disease - 1 1 LOVD
00408212 99168 PubMed: Fernandez-Martinez 2011 - ? - - - - 0 - - 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 - ? - - - - 0 - - 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
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