All individuals with variants in gene LRP5

189 entries on 2 pages. Showing entries 1 - 100.
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Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00100088 PKRD141;61141 PubMed: Li 2017 - F yes Pakistan Pakistani - 0 - - RD - 1 1 James Hejtmancik
00107585 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 2 Johan den Dunnen
00107586 - - - - - United States - - 0 - - hyperostosis, endosteal (Worth disease) autosomal dominant osteosclerosis 1 1 Johan den Dunnen
00107587 - - - - - United States - - 0 - - hyperostosis, endosteal (Worth disease) autosomal dominant osteosclerosis 1 1 Johan den Dunnen
00107588 - - - - - Italy Sardinia - 0 - - Van Buchem disease type 2 van Buchem disease, type 2 1 5 Johan den Dunnen
00107589 - - - - - France - - 0 - - OPTA-1 osteopetrosis, autosomal dominant, type 1 1 2 Johan den Dunnen
00107590 - - - - - United States - - 0 - - BMND bone mineral density, high bone mass 1 1 Johan den Dunnen
00107591 - - - - - United Kingdom (Great Britain) - - 0 - - BMND bone mineral density, high bone mass 1 1 Johan den Dunnen
00107592 - - - - - Denmark - - 0 - - OPTA-1 osteopetrosis, autosomal dominant, type 1 1 1 Johan den Dunnen
00107593 - - - - - Denmark - - 0 - - OPTA-1 osteopetrosis, autosomal dominant, type 1 1 1 Johan den Dunnen
00107594 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107595 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 6 Johan den Dunnen
00107596 - - - - - United States - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 6 Johan den Dunnen
00107597 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive 2 2 Johan den Dunnen
00107598 - - - - yes - - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) 2 3 Johan den Dunnen
00107599 - - - - - - - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) 2 2 Johan den Dunnen
00107600 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107601 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) 1 1 Johan den Dunnen
00107602 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) 1 1 Johan den Dunnen
00107603 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) 1 1 Johan den Dunnen
00107604 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) 1 1 Johan den Dunnen
00107605 - - heterozygous parent - - Japan - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive 2 1 Johan den Dunnen
00107606 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107607 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107608 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107609 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107610 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107611 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107612 - - - - yes - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Johan den Dunnen
00107613 - - - - - Argentina - - 0 - - BMND bone mineral density, high bone mass 1 1 Johan den Dunnen
00107614 - - - - no - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 1 1 Johan den Dunnen
00107615 - - - - - - - - 0 - - BMND bone mineral density, high bone mass 1 1 Johan den Dunnen
00107616 - - - - - - - - 0 - - ? high bone mass 1 1 Johan den Dunnen
00107617 - - - - - Belgium - - 0 - - BMND bone mineral density, high bone mass 1 1 Johan den Dunnen
00107618 - - - F - Japan - - 0 - - BMND bone mineral density 7 1 Johan den Dunnen
00107619 - - - - - - - - 0 - - BMND bone mineral density 4 1 Johan den Dunnen
00107620 - - - F - - - - 0 - - BMND bone mineral density 4 1 Johan den Dunnen
00107621 - - - M - - - - 0 - - BMND bone mineral density 4 1 Johan den Dunnen
00107622 - - - - - Japan - - 0 - - Healthy/Control - 2 1 Johan den Dunnen
00107623 - - - - - Japan - - 0 - - Healthy/Control - 2 2 Johan den Dunnen
00107624 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107625 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107626 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107627 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107628 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107629 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107630 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107631 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107632 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107633 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107634 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107635 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107636 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107637 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107638 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107639 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107640 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107641 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107642 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107643 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107644 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 1 Johan den Dunnen
00107645 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 1 Johan den Dunnen
00107646 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 1 Johan den Dunnen
00107647 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 1 Johan den Dunnen
00107648 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107649 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107650 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107651 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107652 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107653 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107654 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107655 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107656 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107657 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107658 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107659 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107660 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107661 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00107662 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 1 Frans Cremers
00107663 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 1 Frans Cremers
00107664 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive 2 1 Frans Cremers
00107665 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy 1 1 Frans Cremers
00107666 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107667 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 1 1 Frans Cremers
00107668 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107669 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107670 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107671 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107672 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107673 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107674 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107675 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107676 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 1 1 Frans Cremers
00107677 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107678 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107679 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 1 1 Frans Cremers
00107680 16252235-PatOP610 PubMed: Ai 2005 - F - United States - - 0 - - OPPG osteoporosis-pseudoglioma syndrome, congenital pseudoglioma, fractures (6y), no mental retardation 2 1 Frans Cremers
00107681 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive 2 1 Frans Cremers
00107682 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 2 1 Frans Cremers
00107683 - - - - - - - - 0 - - OPPG osteoporosis-pseudoglioma syndrome 1 1 Frans Cremers
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