All individuals with variants in gene HMCN1

67 entries on 1 page. Showing entries 1 - 67.
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00001173 - PubMed: Zafeiriou 2000 twin of 11508549-Pat.4 - ? Greece - - - - - GA1 mild pyramidal tract signs; MRI: high-signal alterations in periventricular white matter and centrum semiovale 1 1 Katrin Hinderhofer
00016860 ID44 - NF1 patient F ? (Germany) - ? - - - NF1 - 1 1 Denise Emmerich
00143915 - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00289613 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 236 Mohammed Faruq
00289614 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 16 Mohammed Faruq
00289615 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 19 Mohammed Faruq
00289616 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 14 Mohammed Faruq
00289618 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289620 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 19 Mohammed Faruq
00289621 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 156 Mohammed Faruq
00289622 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 12 Mohammed Faruq
00289623 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 50 Mohammed Faruq
00304168 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00304169 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00308686 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00334454 RP-009 PubMed: Huang 2017 patient - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00334455 RP-056 PubMed: Huang 2017 patient - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00358962 Case71192 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358966 Case30421 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00362005 Pat8AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
00362650 - PubMed: Fuse 2006 - - - Japan Japanese - - - - retinal disease - 1 1 Julia Lopez
00362651 - PubMed: Fuse 2006 - - - Japan Japanese - - - - retinal disease - 1 1 Julia Lopez
00362652 - PubMed: Fuse 2006 - - - Japan Japanese - - - - retinal disease - 1 1 Julia Lopez
00372638 RP305 PubMed: Xu 2014 patient M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372660 RP275 PubMed: Xu 2014 patient F - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372742 RP274 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372749 RP376 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00373338 Fam2 PubMed: Pras 2015 3-generation family, 6 affected (3F, 3M), 2 presymptomatic F;M - Tunisia - - - - - retinal disease see paper; ... 1 6 Johan den Dunnen
00373506 RH2 PubMed: Liu 2015 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00375413 RP#005 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375434 RP#029 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 2 1 LOVD
00382807 - PubMed: Song-2011 - F - - - - - - - retinal disease - 1 1 LOVD
00390033 G1526 PubMed: Liu 2020 - ? - China - - - - - retinal disease - 1 1 LOVD
00414745 II:5 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation M - United States - - - - - retinal disease - 1 1 LOVD
00414746 II:7 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414747 II:9 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414748 II:11 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation M - United States - - - - - retinal disease - 1 1 LOVD
00414749 II:12 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414750 III:3 PubMed: Schultz 2003 proband; family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414751 III:11 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414752 III:12 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation M - United States - - - - - retinal disease - 1 1 LOVD
00414753 III:13 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation M - United States - - - - - retinal disease - 1 1 LOVD
00414754 III:14 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation M - United States - - - - - retinal disease - 1 1 LOVD
00414755 III:17 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414756 III:20 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414757 III:22 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414758 III:23 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation M - United States - - - - - retinal disease - 1 1 LOVD
00414759 IV:1 PubMed: Schultz 2003 family ARMD1; one individual (V:18) is affected but does not carry the mutation, four individuals unaffected do have the mutation F - United States - - - - - retinal disease - 1 1 LOVD
00414762 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414763 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414764 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414765 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414766 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414767 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414768 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414769 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414770 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414771 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414772 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414773 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414774 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414775 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414776 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00414777 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00447560 MDS-297 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00450863 067326 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
00451241 072766 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - macular dystrophy - 1 1 Johan den Dunnen
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