All individuals with variants in gene CBS

742 entries on 8 pages. Showing entries 1 - 100.
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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     
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00046568 - PubMed: Sponholz 2016, Journal: Sponholz 2016 group of German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 4 168 Klaus Huse
00046569 - PubMed: Sponholz 2016, Journal: Sponholz 2016 group of Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 4 237 Klaus Huse
00047820 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group of 307 individuals - - - - - 0 - - Healthy/Control - 4 307 Klaus Huse
00047822 - PubMed: Sponholz 2016, Journal: Sponholz 2016 German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 2 20 Klaus Huse
00047823 - PubMed: Sponholz 2016, Journal: Sponholz 2016 German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 2 4 Klaus Huse
00047824 - PubMed: Sponholz 2016, Journal: Sponholz 2016 German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 1 88 Klaus Huse
00047825 - PubMed: Sponholz 2016, Journal: Sponholz 2016 German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 2 36 Klaus Huse
00047826 - PubMed: Sponholz 2016, Journal: Sponholz 2016 German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 2 14 Klaus Huse
00047827 - PubMed: Sponholz 2016, Journal: Sponholz 2016 German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 1 3 Klaus Huse
00047828 - PubMed: Sponholz 2016, Journal: Sponholz 2016 German disease cases - - Germany European - 0 - - sepsis severe sepsis/septic shock 2 3 Klaus Huse
00047829 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 2 13 Klaus Huse
00047830 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 2 3 Klaus Huse
00047831 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 2 2 Klaus Huse
00047832 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 1 147 Klaus Huse
00047833 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 2 46 Klaus Huse
00047834 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 2 22 Klaus Huse
00047835 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 1 1 Klaus Huse
00047836 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 2 2 Klaus Huse
00047837 - PubMed: Sponholz 2016, Journal: Sponholz 2016 Greek disease cases - - Greece European - 0 - - sepsis severe sepsis/septic shock 1 1 Klaus Huse
00047838 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 1 3 Klaus Huse
00047839 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 2 57 Klaus Huse
00047840 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 2 7 Klaus Huse
00047841 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 2 1 Klaus Huse
00047842 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 1 262 Klaus Huse
00047843 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 2 45 Klaus Huse
00047844 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 2 25 Klaus Huse
00047845 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 1 3 Klaus Huse
00047846 - PubMed: Sponholz 2016, Journal: Sponholz 2016 control group - - - European - 0 - - Healthy/Control - 2 2 Klaus Huse
00081044 - Trujillano et al., submitted unaffected parents - - - - - 0 - - CBSD Thrombosis, hyperhomocysteinemic (OMIM:236200) 1 1 Daniel Trujillano
00181014 - - - - - - - - - - - CBSD - 2 1 Belen Perez
00210166 - - - M - Germany - - 0 - - - HP:0004904 (Maturity-onset diabetes of the young) 1 1 Andreas Laner
00226126 - - - M - - - - 0 - - ? Dystonia (HP:0001332); Paroxysmal dyskinesia (HP:0007166) 2 1 IMGAG
00261361 controls PubMed: Kraus 1998 screened 15 controls - - - Europe - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00261363 - PubMed: Chen 1999 - - - Japan - - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261364 PatWC/TC/MC PubMed: de Franchis 1994 - - - Ireland Irish - 0 - pyridoxine responsive CBSD mild; no eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261365 Pat005 PubMed: Gallagher 1998 - - - Ireland Irish - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261366 Pat245/248 (sibs) PubMed: Gallagher 1998 - - - Ireland Irish - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261367 GT (2241) PubMed: de Franchis 1999, PubMed: Kraus 1999 - - - Italy - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 3 1 Johan den Dunnen
00261368 Pat676 PubMed: Kozich 1993 - F - Ireland;Germany activity 0-0.20 - 0 - pyridoxine responsive CBSD mild; ectopia lentis; skeletal involvement; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261369 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261370 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD moderate 1 1 Johan den Dunnen
00261371 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261372 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261373 - CBS mutation database, Sebastio - - - Italy - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 2 1 Johan den Dunnen
00261374 - CBS mutation database, Sebastio - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261375 - PubMed: Chen 1999 - - - Japan - - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261376 - CBS mutation database, Shih - - - Norway;Ireland;Germany - - 0 - not pyridoxine responsive CBSD no eye anomaly; no skeletal involvement; vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261377 F13L64 PubMed: Kraus 1999, V Shih - - - Norway;Ireland;Germany - - 0 - - CBSD asymptomatic 2 1 Johan den Dunnen
00261378 R600 PubMed: Kraus 1999, V Shih - - - China - - 0 - not pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261379 SGo PubMed: Kraus 1999, R Gordon - - - Portugal - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261380 Pat1 (LG) PubMed: Sebastio 1995 - - - Italy - - 0 - partially pyridoxine responsive CBSD severe; ectopia lentis; osteoporosis; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261381 P977 PubMed: Coude 1998 - - - France - - 0 - not pyridoxine responsive CBSD eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261382 Pat3 (L264) PubMed: Shih 1995 - - - Italy - - 0 - pyridoxine responsive CBSD asymptomatic 2 1 Johan den Dunnen
00261383 Pat5 (L265) PubMed: Shih 1995 - - - England - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261384 Pat1 PubMed: Gordon 1997 - - - England;Wales - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 2 1 Johan den Dunnen
00261385 Pat3 PubMed: Dawson 1997 - - - Australia - - 0 - partially pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 2 1 Johan den Dunnen
00261386 TS PubMed: Kraus 1999, T Ohura newborn screening - - Japan - - 0 - not pyridoxine responsive CBSD asymptomatic 2 1 Johan den Dunnen
00261387 - PubMed: Kraus 1999, V Shih - - - - Irish/Italian, Scandinavian - 0 - not pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261388 - CBS mutation database, Shih - - - United States African American - 0 - not pyridoxine responsive CBSD no eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261389 MK66 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - partially pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261390 MC62/JC07 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD mild; no eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261391 AP67 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261392 Pat1 PubMed: Kluijtmans 1995 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261393 Pat2 PubMed: Gordon 1997 - - - South Africa - - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261394 GM01374 PubMed: Kruger 1995 patient - - - - - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261395 Pat428 PubMed: Kozich 1997 - - - Slovakia (Slovak Republic) - - 0 - not pyridoxine responsive CBSD moderate 1 1 Johan den Dunnen
00261396 AdZ46 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261397 S PubMed: Kraus 1999, L Kluijtmans - - - Spain - - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; no skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261398 MGL199 (DM) PubMed: Kraus 1999, V Shih - - - Canada France;United Kingdom (Great Britain) - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261399 GM01559 PubMed: Kruger 1995 father patient M - - - - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261400 - CBS mutation database, Shih - - - Puerto Rico - - 0 - not pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261401 PatWC/TC/MC PubMed: de Franchis 1994 - - - Ireland Irish - 0 - pyridoxine responsive CBSD mild; no eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261402 Pat2 (ON) PubMed: Sebastio 1995 - - - Italy - - 0 - not pyridoxine responsive CBSD moderate; ectopia lentis; osteoporosis; no vascular anomaly; no skeletal involvement, epilepsy 1 1 Johan den Dunnen
00261403 - PubMed: Chen 1999 - - - Japan - - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261404 F542 PubMed: Kraus 1999, V Shih - - - Italy - - 0 - not pyridoxine responsive CBSD mild; no eye anomaly; no skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261405 R510 (1281) PubMed: Kraus 1999, V Shih - - - - Ir, Fr/Engl, Fr - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 2 1 Johan den Dunnen
00261406 PatN2 PubMed: Kim 1997 - F - Norway - - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261407 PatN1 PubMed: Kim 1997 - M - Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261408 PatN9 PubMed: Kim 1997 - M - Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261409 PatN8 PubMed: Kim 1997 - F - Norway - - 0 - pyridoxine responsive CBSD eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261410 PatN4a PubMed: Kim 1997 - M - Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261411 Pat2 PubMed: Shih 1995 - - - Poland - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261412 Pat1 (L188) PubMed: Shih 1995 - - - Germany;Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261413 - CBS mutation database, Shih - - - - Jewish - 0 - pyridoxine responsive CBSD asymptomatic 1 1 Johan den Dunnen
00261414 Pat4 PubMed: Shih 1995 - - - - Ashkenazi Jewish - 0 - pyridoxine responsive CBSD eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 2 1 Johan den Dunnen
00261415 not in paper PubMed: Kozich and Kraus 1992 - - - Italy;France - - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261416 - CBS mutation database, Sebastio - - - Italy - - 0 - - CBSD see paper; … 1 1 Johan den Dunnen
00261417 Fam1PatHG PubMed: Sperandeo 1996 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261418 Pat3a (SS) PubMed: Sebastio 1995 family, 3 affected - - Italy - - 0 - pyridoxine responsive CBSD mild; ectopia lentis; osteoporosis; no vascular anomaly; no intellectual diability 2 1 Johan den Dunnen
00261419 Pat4a (ML) PubMed: Sebastio 1995 family, 2 affected - - Italy - - 0 - pyridoxine responsive CBSD mild; ectopia lentis; osteoporosis; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261420 Fam1Pat1/2/3 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 2 1 Johan den Dunnen
00261421 - CBS mutation database, Kluijtmans - - - Netherlands - - 0 - pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261422 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261423 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261424 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability 1 1 Johan den Dunnen
00261425 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261426 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261427 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability 1 1 Johan den Dunnen
00261428 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - partially pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability 1 1 Johan den Dunnen
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