Jeune Thoracic Dystrophy(Asphyxiating thoracic dystrophy) Explore Disorder's Alias
An Unknown mode(s) within the Bone disorders category
Candidate Gene Information
An Unknown mode(s) within the Bone disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | DYNC2H1/79659 | dynein cytoplasmic 2 heavy chain 1 | 11q22.3 | Chr11, NC_000011.10 (103109426..103479863) |
370438 nt | 90 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | IFT80/57560 | intraflagellar transport 80 | 3q25.33 | Chr3, NC_000003.12 (160256986..160399225, complement) |
142240 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TTC21B/79809 | tetratricopeptide repeat domain 21B | 2q24.3 | Chr2, NC_000002.12 (165873362..165953776, complement) |
80415 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | WDR19/57728 | WD repeat domain 19 | 4p14 | Chr4, NC_000004.12 (39182529..39285810) |
103282 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | LBR/3930 | lamin B receptor | 1q42.12 | Chr1, NC_000001.11 (225401502..225428821, complement) |
27320 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | KIAA0753/9851 | KIAA0753 | 17p13.1 | Chr17, NC_000017.11 (6578147..6640711, complement) |
62565 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | WDR35/57539 | WD repeat domain 35 | 2p24.1 | Chr2, NC_000002.12 (19910263..19990105, complement) |
79843 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | TRAF3IP1/26146 | TRAF3 interacting protein 1 | 2q37.3 | Chr2, NC_000002.12 (238320518..238400900) |
80383 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | INTU/27152 | inturned planar cell polarity protein | 4q28.1 | Chr4, NC_000004.12 (127632957..127726737) |
93781 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | NEK1/4750 | NIMA related kinase 1 | 4q33 | Chr4, NC_000004.12 (169392809..169612583, complement) |
219775 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | EVC2/132884 | EvC ciliary complex subunit 2 | 4p16.2 | Chr4, NC_000004.12 (5529011..5709548, complement) |
180538 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | DYNC2I1/55112 | dynein 2 intermediate chain 1 | 7q36.3 | Chr7, NC_000007.14 (158839245..158958698) |
119454 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | DYNC2I2/89891 | dynein 2 intermediate chain 2 | 9q34.11 | Chr9, NC_000009.12 (128633653..128684460, complement) |
50808 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | IFT74/80173 | intraflagellar transport 74 | 9p21.2 | Chr9, NC_000009.12 (26947110..27066134) |
119025 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | IFT88/8100 | intraflagellar transport 88 | 13q12.11 | Chr13, NC_000013.11 (20567157..20691444) |
124288 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | IFT43/112752 | intraflagellar transport 43 | 14q24.3 | Chr14, NC_000014.9 (75985763..76084073) |
98311 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | FUZ/80199 | fuzzy planar cell polarity protein | 19q13.33 | Chr19, NC_000019.10 (49806866..49813553, complement) |
6688 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | KIAA0586/9786 | KIAA0586 | 14q23.1 | Chr14, NC_000014.9 (58427400..58562090) |
134691 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | B9D1/27077 | B9 domain containing 1 | 17p11.2 | Chr17, NC_000017.11 (19334695..19377913, complement) |
43219 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | FLVCR1/28982 | FLVCR choline and heme transporter 1 | 1q32.3 | Chr1, NC_000001.11 (212858275..212899363) |
41089 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | SLTM/79811 | SAFB like transcription modulator | 15q22.1 | Chr15, NC_000015.10 (58879050..58933679, complement) |
54630 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | GRK2/156 | G protein-coupled receptor kinase 2 | 11q13.2 | Chr11, NC_000011.10 (67266473..67286556) |
20084 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | RAB34/83871 | RAB34, member RAS oncogene family | 17q11.2 | Chr17, NC_000017.11 (28714281..28718428, complement) |
4148 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||