All individuals with variants in gene NOTCH2NLC

132 entries on 2 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     
00240393 Family 1 PubMed: Tian 2019, Journal: Tian 2019 5-generation family, 12 affected (1F, 11M), unaffected non-carrier parents F;M no China - - - - - NIID see paper; ... 1 12 Johan den Dunnen
00240394 Family 2 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, 3 affected sibs (2F, M) F;M no China - - - - - NIID see paper; ... 1 3 Johan den Dunnen
00240395 Family 3 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected mother/daughter/son (2F, M) F;M no China - - - - - NIID see paper; ... 1 3 Johan den Dunnen
00240396 Family 4 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, 2 affected sisters F no China - - - - - NIID see paper; ... 1 2 Johan den Dunnen
00240397 Family 5 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, 3 affected brothers M no China - - - - - PARK see paper; ... 1 3 Johan den Dunnen
00240398 Family 6 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected father/2 brothers M no China - - - - - PARK see paper; ... 1 3 Johan den Dunnen
00240399 Family 7 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected father/daughter/son (F, 2M) F;M no China - - - - - PARK - 1 3 Johan den Dunnen
00240400 Family 8 PubMed: Tian 2019, Journal: Tian 2019 3-generation family, 7 affected (4F, 3M) F;M no China - - - - - ? see paper; ... 1 7 Johan den Dunnen
00240401 Family 9 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected mother/daughter/2 sons (2F, 2M) F;M no China - - - - - ? see paper; ... 1 4 Johan den Dunnen
00301413 Fam1Pat1 PubMed: Sone 2019 3-generation family, 10 affected (3F, 7M) M no Japan - - - - - NIID see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness 2 10 Johan den Dunnen
00301414 Fam1Pat8 PubMed: Sone 2019 - M - Japan - - - - - NIID see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness 2 1 Johan den Dunnen
00301415 Fam2Pat2 PubMed: Sone 2019 3-generation family, 7 affected (4F, 3M) F - Japan - - - - - NIID see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness 2 7 Johan den Dunnen
00301416 Fam3Pat1 PubMed: Sone 2019 3-generation family, 2 affected (2F) F - Japan - - - - - NIID see paper; ..., neuropathy (weakness), dementia 2 2 Johan den Dunnen
00301417 Fam4Pat2 PubMed: Sone 2019 2-generation family, 4 affected sisters (4F) F - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 2 4 Johan den Dunnen
00301418 Fam7Pat1 PubMed: Sone 2019 2-generation family, 2 affected (F, M) F - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 2 2 Johan den Dunnen
00301419 Fam8Pat1 PubMed: Sone 2019 2-generation family, 2 affected sisters (2F) F - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 2 2 Johan den Dunnen
00301420 Fam9Pat1 PubMed: Sone 2019 2-generation family, 2 affected (F, M) M - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 2 2 Johan den Dunnen
00301421 FamDPat2 PubMed: Sone 2019 3-generation family, 4 affected (2F, 2M) M - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 1 4 Johan den Dunnen
00301422 3619 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 2 1 Johan den Dunnen
00301423 3624 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 2 1 Johan den Dunnen
00301424 3692 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID see paper; ..., neuropathy (weakness), dementia 2 1 Johan den Dunnen
00301425 Fam10 PubMed: Sone 2019 3-generation family, 2 affected (F, M) - - Japan - - - - - NIID see paper; ..., dementia, leukoencephalopathy 2 4 Johan den Dunnen
00301426 3614 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301427 3615 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301428 3616 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301429 3618 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301430 3623 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301431 3625 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301432 3626 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301433 3627 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301434 3628 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301435 3630 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301436 3636 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301437 3639 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301438 3644 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301439 3645 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301440 3646 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301441 3647 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301442 3648 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301443 3650 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301444 3652 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301445 3653 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301446 3654 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301447 3658 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301448 3661 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301449 3662 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301450 3663 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301451 3665 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301452 3667 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301453 3668 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301454 3672 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301455 3673 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301456 3676 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301457 3677 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301458 3683 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301459 3687 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301460 S81 PubMed: Sone 2019 sporadic case - - Japan - - - - - NIID - 2 1 Johan den Dunnen
00301462 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 2 1 Johan den Dunnen
00301463 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301464 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 4 1 Johan den Dunnen
00301465 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301466 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301467 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301468 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301469 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301470 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301471 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301472 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301473 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301474 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301475 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301476 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301477 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301478 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301479 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301480 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301481 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301482 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301483 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301484 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301485 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301486 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301487 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301488 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301489 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301490 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301491 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301492 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301493 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301494 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301495 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301496 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301497 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301498 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301499 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301500 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301501 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301502 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301503 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00301504 control PubMed: Ishihura 2019 analysis 182 controls - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
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