All individuals with variants in gene DAG1

101 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Gender     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00183264 ASHG2018-P1192 Lazar ASHG2018 P1192 - F no Brazil - - 0 - - FSHD ..., muscle weakness, proximal tetraparesis, EMG myopathic 1 1 Johan den Dunnen
00205399 - PubMed: Concolino 2007 - - - Italy - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205400 - PubMed: Concolino 2007 - - - Italy - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205401 - PubMed: Gupta 2011 - - - - - - 0 - - ? impaired motility behaviour 1 1 Johan den Dunnen
00205402 - PubMed: Lin 2011 - - - - - - 0 - - ? dystrophy, muscular, severe 1 1 Johan den Dunnen
00205403 - PubMed: Concolino 2007 - - - Italy - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205404 - PubMed: lbraghimov-Beskrovnaya 1993 - - - United States - - 0 - - Healthy/Control - 1 20 Johan den Dunnen
00205405 - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - IBM walks 1 1 Johan den Dunnen
00205406 - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - IBM 48y-lost ability to walk (HP:0006957) 2 1 Johan den Dunnen
00205407 - PubMed: Dincer 2003-Case 2 parents unaffected carriers F - Turkey - - 0 - - LGMD mild dystrophy, calf hypertrophy, Achilles tendon contractures; cognitive impairment; elevated serum creatine phosphokinase (HP:0003236) 20x; walk 3y, still walking >16y 1 1 Johan den Dunnen
00205408 - PubMed: Frost 2010 variant not in parents F - United Kingdom (Great Britain) - - 0 - - MYOP mild myopathy, sever learning difficulties, facial hypotonia, oral-motor dyspraxia, subcortical white matter anomalies; muscle nonspecific abnormal findings, some atrophic fibres/type 1 fibre predominance; small amount fibre regeneration (occasional staining neonatal myosin); elevated serum creatine phosphokinase (HP:0003236) ; still walking >16y 1 1 Johan den Dunnen
00205409 - PubMed: Concolino 2007 - - - Italy - - 0 - - ? bronchopulmonary dysplasia in premature newborns, association 1 17 Johan den Dunnen
00205410 - PubMed: Concolino 2007 - - - Italy - - 0 - - Healthy/Control - 1 13 Johan den Dunnen
00205411 - PubMed: Gotlieb 2005 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205412 - PubMed: Concolino 2007 - - - Italy - - 0 - - Healthy/Control - 1 15 Johan den Dunnen
00205413 - PubMed: Gotlieb 2005 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205414 - PubMed: Concolino 2007 - - - Italy - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00205415 - PubMed: Concolino 2007 - - - Italy - - 0 - - Healthy/Control - 1 21 Johan den Dunnen
00205416 - PubMed: Gotlieb 2005 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205417 - PubMed: Gotlieb 2005 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205418 - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - IBM walks 2 1 Johan den Dunnen
00205419 - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - IBM 35y-lost ability to walk (HP:0006957) 2 1 Johan den Dunnen
00205420 - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - IBM 40y-lost ability to walk (HP:0006957) 2 1 Johan den Dunnen
00205421 - PubMed: Hara 2011 heterozygotes unaffected - - - - - 0 - - MD centrally nucleated fibers; excercise induced disruption skeletal-muscle sarcolemma; reduced forelimb grip strength; no cardiac changes; intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00219508 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219522 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219608 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219751 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - CRS, LGMD - 1 1 Madhuri Hegde
00219779 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219786 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219894 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219917 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219922 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219927 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219931 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220024 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220053 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220067 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220172 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220207 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220278 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220321 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220333 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00220434 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220448 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220504 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220659 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220662 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220689 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220698 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220729 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220841 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220881 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220955 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220963 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221003 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221038 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221042 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221043 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221058 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221215 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221221 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221225 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221227 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221237 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221274 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221297 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221325 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221405 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221466 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221507 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221611 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221627 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221635 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221697 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221786 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221802 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221832 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221856 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221907 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221926 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221929 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221981 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222032 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222036 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222148 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222282 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222408 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222415 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222432 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222456 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222469 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222497 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222527 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222528 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222549 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222660 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00265467 Pat23 PubMed: Özyilmaz 2019 - F - Turkey - - 0 - - LGMD high CK, easy falling, mental retardation 1 1 Johan den Dunnen
00265468 Pat28 PubMed: Özyilmaz 2019 - M - Turkey - - 0 - - LGMD high CK, asympthomatic 1 1 Johan den Dunnen
00293430 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 9 Mohammed Faruq
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