All individuals with variants in gene NOG

61 entries on 1 page. Showing entries 1 - 61.
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VIP     
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Treatment     
Disease     
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Variants     
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00229480 A-C Cohort PubMed: Moffet 2009 - - - - - - - - - ? - 1 1 LOVD
00229481 - - - - - - - - - - - ? - 1 1 LOVD
00229482 A-C Cohort PubMed: Moffet 2009 - - - - - - - - - ? - 1 1 LOVD
00229483 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229484 case_003 PubMed: Takahashi 2001 - - - - - - - - - SYNS1 multiple synostoses syndrome 1 1 LOVD
00229485 Fam 1 (P35A) PubMed: Lehmann 2007 - - - Germany - - - - - BDB2 brachydactyly type B2 1 1 LOVD
00229486 Patient_001 PubMed: Hirshoren 2008 - F - - Jewish-Ashkenazi - - - - Stapes ankylosis with broad thumb and toes stapes ankylosis, broad thumbs, and toes 1 1 LOVD
00229487 Fam 2 (P35S) PubMed: Lehmann 2007 - - - Turkey - - - - - BDB2 brachydactyly type B2 1 1 LOVD
00229488 Fam 3 (P35S) PubMed: Lehmann 2007 - - - Denmark - - - - - BDB2 brachydactyly type B2 1 1 LOVD
00229489 (Fam1) II:1 PubMed: Mangino 2002 Father of III:1 M - Italy - - - - - SYM proximal symphalangism, thoraco-lumbar scoliosis 1 1 LOVD
00229490 (Fam1) III:1 PubMed: Mangino 2002 Sun of II:1 M - Italy - - - - - SYM proximal symphalangism 1 1 LOVD
00229491 patient_007 PubMed: Gong 1999 - - - - - - - - - SYM proximal symphalangism 1 1 LOVD
00229492 family_K2 PubMed: Dixon 2001 - - - - - - - - - TCC tarsal-carpal coalition syndrome 1 1 LOVD
00229493 Fam 4 (A36P) PubMed: Lehmann 2007 - - - Iran - - - - - BDB2 brachydactyly type B2 1 1 LOVD
00229494 propositus PubMed: Debeer 2004 - M - - - - - - - TCC tarsal-carpal coalition syndrome 1 1 LOVD
00229495 Patient_001 PubMed: Debeer 2005 - - - - - - - - - SYNS1 multiple synostoses syndrome 2 1 LOVD
00229496 patient_002 PubMed: Debeer 2005 - - - - - - - - - SYNS1 multiple synostoses syndrome 2 1 LOVD
00229497 family_B PubMed: Oxley 2008 - - - - - - - - - SYNS1 multiple synostoses syndrome 1 1 LOVD
00229498 family_A PubMed: Hilhorst-Hofstee 1997, PubMed: Weekamp 2005 - - - - - - - - - Stapes ankylosis with broad thumb and toes stapes ankylosis, broad thumbs, and toes 1 1 LOVD
00229499 Fam 5 (E48K) PubMed: Lehmann 2007 - - - United Kingdom (Great Britain) - - - - - BDB2 brachydactyly type B2 1 1 LOVD
00229500 Patient_001 PubMed: Kosaki 2004 - F - Japan Japanese - - - - SYM proximal symphalangism 1 1 LOVD
00229501 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229502 family_G {PMID10069712 :Milunsky 1999}, PubMed: Brown 2002 - - - - - - - - - Stapes ankylosis with broad thumb and toes stapes ankylosis, broad thumbs, and toes 1 1 LOVD
00229503 family_16 PubMed: Brown 2002 - - - - - - - - - Stapes ankylosis with broad thumb and toes stapes ankylosis, broad thumbs, and toes 1 1 LOVD
00229504 case_002 PubMed: Takahashi 2001 - - - - - - - - - SYM proximal symphalangism 1 1 LOVD
00229505 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229506 Fam R167G PubMed: Lehmann 2007 - - - - North america - - - - BDB2 brachydactyly type B2 1 1 LOVD
00229507 case_001 PubMed: Takahashi 2001 - - - - - - - - - SYM proximal symphalangism 1 1 LOVD
00229508 Fam P187S PubMed: Lehmann 2007 - - - - - - - - - BDB2 brachydactyly type B2 1 1 LOVD
00229509 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229510 family_C PubMed: Weekamp 2005 - - - - - - - - - Stapes ankylosis with broad thumb and toes stapes ankylosis, broad thumbs, and toes 1 1 LOVD
00229511 family_005 PubMed: Ensink 1999, PubMed: Cremers 1985, PubMed: Gong 1999 - - - - - - - - - SYM proximal symphalangism 1 1 LOVD
00229512 family_A PubMed: Oxley 2008 - - - - - - - - - SYNS1 multiple synostoses syndrome 1 1 LOVD
00229513 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229514 family_B PubMed: Weekamp 2005 - - - - - - - - - Stapes ankylosis with broad thumb and toes stapes ankylosis, broad thumbs, and toes 1 1 LOVD
00229515 family_K1 PubMed: Drawbert 1985, PubMed: Dixon 2001 - - - - - - - - - TCC tarsal-carpal coalition syndrome 1 1 LOVD
00229516 patient_R02-360 PubMed: Dawson 2006 - - - - - - - - - SYNS1 multiple synostoses syndrome 1 1 LOVD
00229517 Case1 PubMed: van den Ende 2005 Analysis of the family showed that five members (cases 1 to 5) were heterozygous carriers of the missense mutation in the NOG gene while the mutation was not present in two other family members (brother of case 4 and his daughter). - - Belgium - - - - - SYNS1 multiple synostoses syndrome 1 5 LOVD
00229518 Patient_001 PubMed: Emery 2009 - F - - - - - - - SYM proximal symphalangism 1 1 LOVD
00229519 family_002 PubMed: Krakow 1998, PubMed: Gong 1999 - - - - - - - - - SYNS1 multiple synostoses syndrome 1 1 LOVD
00229520 family_006 PubMed: Gong 1999 - - - - - - - - - SYM proximal symphalangism 1 1 LOVD
00229521 family_004 PubMed: Ensink 1999, PubMed: Gong 1999 - - - - - - - - - SYM proximal symphalangism 2 1 LOVD
00229522 family_001 PubMed: Polymeropoulos 1995, PubMed: Gong 1999 - - - - - - - - - SYM - 1 1 LOVD
00229523 family_K3 PubMed: Dixon 2001 - - - - - - - - - TCC proximal symphalangism 1 1 LOVD
00229524 family_003 PubMed: Gong 1999 - - - - - - - - - SYM proximal symphalangism 1 1 LOVD
00229525 (FamD) Patient_001 PubMed: Rudnik-Schöneborn 2010 Sun of Patient_002 M - Germany German - - - - SYNS1 multiple synostoses syndrome 1 1 LOVD
00229526 (FamD) Patient_002 PubMed: Rudnik-Schöneborn 2010 Father of Patient_001 M - Germany German - - - - SYNS1 multiple synostoses syndrome 1 1 LOVD
00229527 - - - - - - - - - - - ? - 1 1 LOVD
00229528 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229529 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229530 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229531 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229532 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229533 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229534 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00229535 - - - - - - - - - - - Healthy/Control - 1 1 LOVD
00295960 proband (Ⅲ-3) Journal: Pan 2020 - F no China - 06y - - - SYNS1 proximal symphalangism (HP:0100264), conductive hearing loss (HP:0000405), cutaneous syndactyly of toes (HP:0010621), clinodactyly of the 5th finger (HP:0004209), strabismus (HP:0000486), hyperopia (HP:0000540), amblyopia (HP:0000646) 1 2 Zhaoyu Pan
00295962 proband’s father (Ⅱ-4) Journal: Pan 2020 - M no China - - - - - SYNS1 proximal symphalangism (HP:0100264), conductive hearing loss (HP:0000405), cutaneous syndactyly of toes (HP:0010621), Short halluces (HP:0010109) 1 1 Zhaoyu Pan
00359582 - - - - no Tunisia - - - - - BDB2 Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843), Aplasia/Hypoplasia of the nails (HP:0008386), distal symphalangism (HP:0100263), Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185) 1 1 Yasmina Elaribi
00419621 8135 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00448203 Pat65 PubMed: Poli 2024 - M - Chile - - - - - ? conductive hearing impairment; strabismus; hypermetropia; cutaneous finger syndactyly; cryptorchidism; dysmorphic facial features. affected father 1 1 Johan den Dunnen
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