Asphyxiating Thoracic Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MedlinePlus Genetics: ⁴² Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.

MalaCards based summary: Asphyxiating Thoracic Dystrophy, also known as jeune thoracic dystrophy, is related to short-rib thoracic dysplasia 1 with or without polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly, and has symptoms including icterus An important gene associated with Asphyxiating Thoracic Dystrophy is IFT80 (Intraflagellar Transport 80), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone, pancreas and kidney, and related phenotypes are growth/size/body region and limbs/digits/tail

Disease Ontology: ¹¹ A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

Wikipedia: ⁷⁵ Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth... more...

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Related Diseases for Asphyxiating Thoracic Dystrophy

Diseases related to Asphyxiating Thoracic Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 219)

#	Related Disease	Score	Top Affiliating Genes
1	short-rib thoracic dysplasia 1 with or without polydactyly	33.8	WDR35 WDR19 TTC21B-AS1 TTC21B TRIM59-IFT80 TRAF3IP1
2	short-rib thoracic dysplasia 3 with or without polydactyly	33.8	WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
3	short-rib thoracic dysplasia 4 with or without polydactyly	33.7	WDR35 WDR19 TTC21B-AS1 TTC21B IFT140 DYNC2I1
4	short-rib thoracic dysplasia 5 with or without polydactyly	33.7	WDR35 WDR19 TTC21B IFT140
5	short-rib thoracic dysplasia 2 with or without polydactyly	33.6	TRIM59-IFT80 IFT80
6	joubert syndrome with jeune asphyxiating thoracic dystrophy	33.3	LOC105371046 KIAA0586 IFT140
7	short-rib thoracic dysplasia 7 with or without polydactyly	33.1	WDR35 WDR19 TTC21B IFT140 DYNC2I1
8	short-rib thoracic dysplasia 6 with or without polydactyly	33.1	WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 KIAA0586
9	short-rib thoracic dysplasia 11 with or without polydactyly	33.0	SPTAN1 DYNC2I2 DYNC2I1 DYNC2H1
10	short-rib thoracic dysplasia 9 with or without polydactyly	33.0	WDR35 WDR19 TTC21B LOC105371046 IFT140 EVC2
11	short-rib thoracic dysplasia 8 with or without polydactyly	33.0	DYNC2I2 DYNC2I1 DYNC2H1
12	short-rib thoracic dysplasia 10 with or without polydactyly	32.9	LBR DYNC2H1
13	short-rib thoracic dysplasia 12	32.7	WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 KIAA0586
14	osteochondrodysplasia	31.8	WDR35 WDR19 TTC21B LBR IFT80 EVC2
15	polydactyly	31.8	WDR35 WDR19 TTC21B KIAA0586 IFT81 IFT80
16	joubert syndrome 1	31.4	WDR35 WDR19 TTC21B TRAF3IP1 SPTAN1 KIAA0753
17	ellis-van creveld syndrome	31.3	WDR35 WDR19 TTC21B TRAF3IP1 KIAA0753 KIAA0586
18	cystic kidney disease	31.1	WDR19 TTC21B IFT80 IFT140
19	short rib-polydactyly syndrome	31.1	WDR35 IFT81 DYNC2H1
20	leber plus disease	31.0	WDR19 TTC21B KIAA0586 IFT80 IFT140
21	cranioectodermal dysplasia	30.9	WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
22	bardet-biedl syndrome	30.9	WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80
23	nephronophthisis	30.9	WDR35 WDR19 TTC21B-AS1 TTC21B TRAF3IP1 LOC105371046
24	fundus dystrophy	30.9	WDR35 WDR19 TTC21B-AS1 TTC21B TRAF3IP1 LOC105371046
25	meckel syndrome, type 1	30.9	WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT80
26	polycystic kidney disease	30.9	WDR19 TTC21B IFT80 IFT140
27	retinitis pigmentosa	30.8	WDR35 WDR19 TTC21B TRAF3IP1 LOC105371046 KIAA0586
28	cone-rod dystrophy 2	30.8	WDR35 WDR19 TRAF3IP1 LOC105371046 KIAA0753 KIAA0586
29	situs inversus	30.8	WDR19 TTC21B IFT80 IFT140 DYNC2H1
30	chromosome 2q35 duplication syndrome	30.8	WDR35 WDR19 IFT140 EVC2
31	infantile nephronophthisis	30.8	TTC21B-AS1 TTC21B
32	retinal degeneration	30.7	TTC21B IFT81 DYNC2I1 DYNC2H1
33	retinitis pigmentosa 80	30.5	LOC105371046 IFT140
34	nephronophthisis 2	30.3	TTC21B-AS1 TTC21B
35	benallegue lacete syndrome	11.7
36	short-rib thoracic dysplasia 14 with polydactyly	11.5
37	short-rib thoracic dysplasia 18 with polydactyly	11.5
38	short-rib thoracic dysplasia 19 with or without polydactyly	11.5
39	short-rib thoracic dysplasia 17 with or without polydactyly	11.4
40	short-rib thoracic dysplasia 13 with or without polydactyly	11.4
41	short-rib thoracic dysplasia 15 with polydactyly	11.4
42	short-rib thoracic dysplasia 16 with or without polydactyly	11.4
43	short-rib thoracic dysplasia 20 with polydactyly	11.4
44	short-rib thoracic dysplasia 21 without polydactyly	11.3
45	jeune syndrome situs inversus	11.2
46	weyers acrofacial dysostosis	10.6	WDR35 WDR19 TTC21B KIAA0586 IFT80 IFT140
47	acrofacial dysostosis	10.6	WDR35 WDR19 TTC21B IFT80 EVC2 DYNC2I2
48	respiratory failure	10.6
49	primary ciliary dyskinesia	10.6	WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
50	visceral heterotaxy	10.5	WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT80

Graphical network of the top 20 diseases related to Asphyxiating Thoracic Dystrophy:

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Symptoms & Phenotypes for Asphyxiating Thoracic Dystrophy

UMLS symptoms related to Asphyxiating Thoracic Dystrophy:

icterus

MGI Mouse Phenotypes related to Asphyxiating Thoracic Dystrophy:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.22	DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140
2	limbs/digits/tail	MP:0005371	10.17	DYNC2H1 DYNC2I2 EVC2 IFT140 IFT80 KIAA0586
3	embryo	MP:0005380	10.15	DYNC2H1 DYNC2I1 DYNC2I2 GRK2 IFT140 KIAA0586
4	cellular	MP:0005384	10	DYNC2H1 DYNC2I2 EVC2 GRK2 IFT140 IFT80
5	craniofacial	MP:0005382	9.96	DYNC2H1 EVC2 IFT140 IFT80 KIAA0586 KIAA0753
6	digestive/alimentary	MP:0005381	9.87	DYNC2H1 DYNC2I1 EVC2 IFT140 LBR WDR19
7	skeleton	MP:0005390	9.61	DYNC2H1 EVC2 IFT140 IFT80 KIAA0586 LBR
8	mortality/aging	MP:0010768	9.53	DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140

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Drugs & Therapeutics for Asphyxiating Thoracic Dystrophy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)	Completed	NCT00948376
2	Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis	Recruiting	NCT04874909

Search NIH Clinical Center for Asphyxiating Thoracic Dystrophy

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Genetic Tests for Asphyxiating Thoracic Dystrophy

Genetic tests related to Asphyxiating Thoracic Dystrophy:

#	Genetic test	Affiliating Genes
1	Jeune Thoracic Dystrophy ²⁸

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Anatomical Context for Asphyxiating Thoracic Dystrophy

Organs/tissues related to Asphyxiating Thoracic Dystrophy:

MalaCards : Bone, Pancreas, Kidney, Liver, Eye, Heart, Spinal Cord

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Publications for Asphyxiating Thoracic Dystrophy

Articles related to Asphyxiating Thoracic Dystrophy:

(show top 50) (show all 362)

#	Title	Authors	PMID	Year
1	DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. ⁶² ⁵	Vig A...Heon E	32753734	2020
2	Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. ⁶² ⁵	Bosakova M...Krejci P	33200460	2020
3	Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. ⁶² ⁵	Zhang W...Cohn DH	29068549	2018
4	Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. ⁶² ⁵	Duran I...Krakow D	27666822	2016
5	Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. ⁶² ⁵	Schmidts M...Mitchison HM	23456818	2013
6	Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. ⁶² ⁵	Schmidts M...Bergmann C	23418020	2013
7	Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. ⁶² ⁵	Baujat G...Cormier-Daire V	23339108	2013
8	An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. ⁶² ⁵	Rix S...Beales PL	21227999	2011
9	TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. ⁶² ⁵	Davis EE...Katsanis N	21258341	2011
10	DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. ⁶² ⁵	Dagoneau N...Cormier-Daire V	19442771	2009
11	Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. ⁵	Normand EA...Yang Y	30266093	2018
12	Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. ⁵	Hammarsjo A...Ikegawa S	29138412	2017
13	Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ⁵	Kang HG...Cheong HI	27491411	2016
14	Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. ⁵	McInerney-Leo AM...Duncan EL	25492405	2015
15	Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. ⁵	Newman S...Rudd MK	25640679	2015
16	A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. ⁵	Huynh Cong E...Antignac C	24876116	2014
17	Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. ⁵	Halbritter J...GPN Study Group	23559409	2013
18	Active human retrotransposons: variation and disease. ⁵	Hancks DC...Kazazian HH	22406018	2012
19	NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. ⁵	El Hokayem J...Cormier-Daire V	22499340	2012
20	Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. ⁵	Cavalcanti DP...Cormier-Daire V	19648123	2011
21	Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. ⁵	Otto EA...GPN Study Group	21068128	2011
22	A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. ⁵	Konkel MK...Batzer MA	20307669	2010
23	The impact of retrotransposons on human genome evolution. ⁵	Cordaux R...Batzer MA	19763152	2009
24	Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. ⁵	Merrill AE...Krakow D	19361615	2009
25	THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. ⁵	Tran PV...Beier DR	18327258	2008
26	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
27	Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2. ⁶²	Shak C...Stephens DJ	36268591	2023
28	A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report. ⁶²	Zhao X...Shao L	36381051	2022
29	NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination. ⁶²	Ijaz A...Basit S	35987473	2022
30	The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila. ⁶²	Guleria VS...Upadhyai P	35839863	2022
31	Novel median thoracic expansion for asphyxiating thoracic dystrophy. ⁶²	Wang W...Cai B	35975231	2022
32	Bilateral correction of asphyxiating thoracic dystrophy. ⁶²	Wang W...Cai B	35975226	2022
33	Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test. ⁶²	Nazarenko MS...Nazarenko LP	36012502	2022
34	Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias. ⁶²	Stembalska A...Smigiel R	35893076	2022
35	Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome. ⁶²	Faviez C...Burgun A	35612223	2022
36	RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION. ⁶²	Pilotto E...Frizziero L	31958104	2022
37	Role of Primary Cilia in Bone and Cartilage. ⁶²	Chinipardaz Z...Yang S	34743626	2022
38	[Chest Wall Deformities in Children and Adolescents]. ⁶²	Bergmann F...Muensterer OJ	34963176	2022
39	Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis. ⁶²	Walczak-Sztulpa J...Oud MM	35873489	2022
40	Surgical treatment of a 36-year-old patient with asphyxiating thoracic dysplasia. ⁶²	Wang W	34999795	2022
41	A curious case of asphyxiating thoracic dystrophy in an adult. ⁶²	Stranks L...Yeo A	34795902	2021
42	Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease. ⁶²	Getwan M...Lienkamp SS	34548398	2021
43	Clinical phenocopies of albinism. ⁶²	Dumitrescu AV...Drack AV	34280564	2021
44	Lethal and life-limiting skeletal dysplasias: Selected prenatal issues. ⁶²	Stembalska A...Smigiel R	34019743	2021
45	Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes. ⁶²	Al-Fadhli FM...Almontashiri NAM	33495992	2021
46	Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. ⁶²	Viswarubhiny S...Sundaresan P	33957996	2021
47	A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. ⁶²	Strong A...Hakonarson H	33547761	2021
48	A new technique for neonatal Jeune syndrome: External thoracic expansion. ⁶²	Temel U...Akgul AG	34104526	2021
49	Overlapping holoprosencephaly-polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report. ⁶²	Sereke SG...Bongomin F	33768892	2021
50	First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome: A Case Report. ⁶²	Kondo H...Okutomi T	33577174	2021

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Genes for Asphyxiating Thoracic Dystrophy

Genes related to Asphyxiating Thoracic Dystrophy (18 elite genes):

(show top 50) (show all 113)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IFT80	Intraflagellar Transport 80	Protein Coding	461.31	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	19763152 20307669 21227999 (more) 22406018 23339108 29068549 16199547 19648123 30266093
2	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	451.23	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	16199547 19361615 19442771 (more) 22499340 23339108 23456818 29068549 32753734
3	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	451.07	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	16199547 18327258 21068128 (more) 21258341 23559409 24876116 25492405 27491411 29068549 25640679
4	KIAA0753	KIAA0753	Protein Coding	447.12	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	29138412
5	GRK2	G Protein-Coupled Receptor Kinase 2	Protein Coding	428.8	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	33200460
6	DYNC2I1	Dynein 2 Intermediate Chain 1	Protein Coding	425.67	Pathogenic/Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	29068549
7	DYNC2I2	Dynein 2 Intermediate Chain 2	Protein Coding	425.48	Pathogenic/Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	29068549
8	TRIM59-IFT80	TRIM59-IFT80 Protein	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	19763152 20307669 21227999 (more) 22406018 23339108 29068549 16199547 19648123 30266093
9	TTC21B-AS1	TTC21B Antisense RNA 1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	21258341 24876116 16199547 (more) 18327258 21068128 23559409 25492405 27491411 29068549
10	IFT140	Intraflagellar Transport 140	Protein Coding	416.03	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	23418020 29068549
11	WDR35	WD Repeat Domain 35	Protein Coding	416.03	Pathogenic/Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	29068549
12	WDR19	WD Repeat Domain 19	Protein Coding	415.95	Pathogenic/Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	29068549
13	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	407.15	Pathogenic/Likely pathogenic ⁵ DISEASES inferred ¹⁴	29068549
14	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	406.63	Pathogenic/Likely pathogenic ⁵ DISEASES inferred ¹⁴	29068549
15	LBR	Lamin B Receptor	Protein Coding	404.21	Pathogenic/Likely pathogenic ⁵ DISEASES inferred ¹⁴	29068549
16	LOC105371046	Uncharacterized LOC105371046	RNA Gene	400	Pathogenic/Likely pathogenic ⁵	23418020 29068549
17	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁵	29068549
18	ATD	Asphixiating Thoracic Dystrophy (Chondroectodermal Dysplasia-Like Syndrome)	Genetic Locus	50	MalaCards inferred ³⁹
19	KIAA0586	KIAA0586	Protein Coding	40.28	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
20	IFT81	Intraflagellar Transport 81	Protein Coding	39.2	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	27666822
21	IFT74	Intraflagellar Transport 74	Protein Coding	31.64	Likely pathogenic ⁵ DISEASES inferred ¹⁴
22	DYNLT2B	Dynein Light Chain Tctex-Type 2B	Protein Coding	25.02	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
23	FLVCR1	FLVCR Heme Transporter 1	Protein Coding	25	Likely pathogenic ⁵	27666822
24	SLTM	SAFB Like Transcription Modulator	Protein Coding	25	Likely pathogenic ⁵	27666822
25	CEP120	Centrosomal Protein 120	Protein Coding	24.78	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
26	INTU	Inturned Planar Cell Polarity Protein	Protein Coding	23.62	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
27	IFT172	Intraflagellar Transport 172	Protein Coding	15.59	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
28	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	15.56	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
29	IFT52	Intraflagellar Transport 52	Protein Coding	15.05	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
30	NEK1	NIMA Related Kinase 1	Protein Coding	15.01	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
31	IFT43	Intraflagellar Transport 43	Protein Coding	14.95	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
32	RPGRIP1L	RPGRIP1 Like	Protein Coding	14.74	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
33	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	14.15	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
34	NPHP4	Nephrocystin 4	Protein Coding	14.04	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
35	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	13.7	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
36	IFT122	Intraflagellar Transport 122	Protein Coding	7.5	DISEASES inferred ¹⁴
37	IFT88	Intraflagellar Transport 88	Protein Coding	7.33	DISEASES inferred ¹⁴
38	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	7.02	DISEASES inferred ¹⁴
39	TCTN3	Tectonic Family Member 3	Protein Coding	7.02	DISEASES inferred ¹⁴
40	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	6.91	DISEASES inferred ¹⁴
41	CEP290	Centrosomal Protein 290	Protein Coding	6.87	DISEASES inferred ¹⁴
42	KIF3A	Kinesin Family Member 3A	Protein Coding	6.85	DISEASES inferred ¹⁴
43	CSPP1	Centrosome And Spindle Pole Associated Protein 1	Protein Coding	6.82	DISEASES inferred ¹⁴
44	TMEM67	Transmembrane Protein 67	Protein Coding	6.82	DISEASES inferred ¹⁴
45	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	6.77	DISEASES inferred ¹⁴
46	TMEM216	Transmembrane Protein 216	Protein Coding	6.67	DISEASES inferred ¹⁴
47	TCTN2	Tectonic Family Member 2	Protein Coding	6.66	DISEASES inferred ¹⁴
48	NPHP1	Nephrocystin 1	Protein Coding	6.63	DISEASES inferred ¹⁴
49	NPHP3	Nephrocystin 3	Protein Coding	6.49	DISEASES inferred ¹⁴
50	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	6.49	DISEASES inferred ¹⁴

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Variations for Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

⁵ (show top 50) (show all 1720)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	WDR19	NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs)	DEL	Pathogenic	558761	rs747165335	GRCh37: 4:39279776-39279779 GRCh38: 4:39278156-39278159
2	GRK2	NM_001619.5(GRK2):c.469C>T (p.Leu157Phe)	SNV	Pathogenic	1184830		GRCh37: 11:67047337-67047337 GRCh38: 11:67279866-67279866
3	TTC21B	NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	DEL	Pathogenic	446650	rs775836730	GRCh37: 2:166785711-166785711 GRCh38: 2:165929201-165929201
4	TTC21B	NM_024753.5(TTC21B):c.2758-2A>G	SNV	Pathogenic	30937	rs766132877	GRCh37: 2:166756392-166756392 GRCh38: 2:165899882-165899882
5	TTC21B	NM_024753.5(TTC21B):c.3144del (p.Ala1049fs)	DEL	Pathogenic	1372589		GRCh37: 2:166747108-166747108 GRCh38: 2:165890598-165890598
6	TTC21B	NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)	SNV	Pathogenic	546034	rs369159801	GRCh37: 2:166773951-166773951 GRCh38: 2:165917441-165917441
7	IFT140, LOC105371046	NM_014714.4(IFT140):c.1380del (p.Asn460fs)	DEL	Pathogenic	97055	rs431905522	GRCh37: 16:1633367-1633367 GRCh38: 16:1583366-1583366
8	TTC21B	NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs)	DUP	Pathogenic	1379421		GRCh37: 2:166785764-166785765 GRCh38: 2:165929254-165929255
9	TTC21B	NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)	SNV	Pathogenic	1392901		GRCh37: 2:166786207-166786207 GRCh38: 2:165929697-165929697
10	DYNC2H1		DEL	Pathogenic	558749		GRCh37: 11:103016481-103177263 GRCh38: 11:103145752-103306534
11	TTC21B	NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter)	SNV	Pathogenic	1361272		GRCh37: 2:166767961-166767961 GRCh38: 2:165911451-165911451
12	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer)	DEL	Pathogenic	1365265		GRCh37: 3:160075286-160075287 GRCh38: 3:160357498-160357499
13	TTC21B	NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter)	SNV	Pathogenic	1399888		GRCh37: 2:166758417-166758417 GRCh38: 2:165901907-165901907
14	TTC21B	NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)	SNV	Pathogenic	1436713		GRCh37: 2:166775885-166775885 GRCh38: 2:165919375-165919375
15	TTC21B	NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)	SNV	Pathogenic	1363746		GRCh37: 2:166785654-166785654 GRCh38: 2:165929144-165929144
16	TTC21B	NM_024753.5(TTC21B):c.2482dup (p.Met828fs)	DUP	Pathogenic	1453748		GRCh37: 2:166764273-166764274 GRCh38: 2:165907763-165907764
17	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.1066del (p.Tyr356fs)	DEL	Pathogenic	1453983		GRCh37: 3:160025461-160025461 GRCh38: 3:160307673-160307673
18	overlap with 20 genes	NC_000011.9:g.(?_101323686)_(103349981_?)del	DEL	Pathogenic	1455268		GRCh37: 11:101323686-103349981 GRCh38:
19	TTC21B	NM_024753.5(TTC21B):c.3044del (p.Arg1015fs)	DEL	Pathogenic	1363403		GRCh37: 2:166747405-166747405 GRCh38: 2:165890895-165890895
20	TTC21B	NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter)	SNV	Pathogenic	1457474		GRCh37: 2:166758297-166758297 GRCh38: 2:165901787-165901787
21	TTC21B	NM_024753.5(TTC21B):c.1942dup (p.Ser648fs)	DUP	Pathogenic	1458764		GRCh37: 2:166771906-166771907 GRCh38: 2:165915396-165915397
22	TTC21B	NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs)	DEL	Pathogenic	1424345		GRCh37: 2:166786744-166786762 GRCh38: 2:165930234-165930252
23	TTC21B	NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter)	SNV	Pathogenic	1456585		GRCh37: 2:166785685-166785685 GRCh38: 2:165929175-165929175
24	TTC21B	NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter)	SNV	Pathogenic	1417573		GRCh37: 2:166747140-166747140 GRCh38: 2:165890630-165890630
25	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs)	INSERT	Pathogenic	1442026		GRCh37: 3:160099324-160099325 GRCh38: 3:160381536-160381537
26	TTC21B	NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter)	SNV	Pathogenic	1458640		GRCh37: 2:166747373-166747373 GRCh38: 2:165890863-165890863
27	TTC21B	NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)	SNV	Pathogenic	1451834		GRCh37: 2:166805994-166805994 GRCh38: 2:165949484-165949484
28	TTC21B	NM_024753.5(TTC21B):c.3045del (p.Asn1016fs)	DEL	Pathogenic	1451840		GRCh37: 2:166747404-166747404 GRCh38: 2:165890894-165890894
29	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.898_899del (p.Glu300fs)	DEL	Pathogenic	1435198		GRCh37: 3:160037606-160037607 GRCh38: 3:160319818-160319819
30	DYNC2H1	NC_000011.9:g.(?_103325894)_(103349981_?)del	DEL	Pathogenic	1456954		GRCh37: 11:103325894-103349981 GRCh38:
31	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.551G>A (p.Trp184Ter)	SNV	Pathogenic	1453252		GRCh37: 3:160075365-160075365 GRCh38: 3:160357577-160357577
32	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.1388del (p.Ile463fs)	DEL	Pathogenic	1451633		GRCh37: 3:160000394-160000394 GRCh38: 3:160282606-160282606
33	TTC21B	NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter)	SNV	Pathogenic	1351437		GRCh37: 2:166747088-166747088 GRCh38: 2:165890578-165890578
34	TTC21B	NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter)	SNV	Pathogenic	1350763		GRCh37: 2:166756330-166756330 GRCh38: 2:165899820-165899820
35	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.1961del (p.Asn654fs)	DEL	Pathogenic	935920	rs779179710	GRCh37: 3:159995232-159995232 GRCh38: 3:160277444-160277444
36	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.1187del (p.Leu396fs)	DEL	Pathogenic	957559	rs1716383227	GRCh37: 3:160018799-160018799 GRCh38: 3:160301011-160301011
37	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer)	MICROSAT	Pathogenic	1072907		GRCh37: 3:160025554-160025555 GRCh38: 3:160307766-160307767
38	TTC21B	NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs)	DEL	Pathogenic	528906	rs1553506530	GRCh37: 2:166744864-166744865 GRCh38: 2:165888354-165888355
39	IFT80	NC_000003.12:g.(?_160299237)_(160319939_?)del	DEL	Pathogenic	830648		GRCh37: 3:160017025-160037727 GRCh38:
40	TTC21B	NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)	SNV	Pathogenic	1070283		GRCh37: 2:166775914-166775914 GRCh38: 2:165919404-165919404
41	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter)	SNV	Pathogenic	1071537		GRCh37: 3:159995413-159995413 GRCh38: 3:160277625-160277625
42	TRIM59-IFT80, IFT80	NM_020800.3(IFT80):c.639+1del	DEL	Pathogenic	1075438		GRCh37: 3:160075276-160075276 GRCh38: 3:160357488-160357488
43	overlap with 7 genes	NC_000002.11:g.(?_165946660)_(167168266_?)del	DEL	Pathogenic	1054402		GRCh37: 2:165946660-167168266 GRCh38:
44	TTC21B-AS1, TTC21B	NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	SNV	Pathogenic	30935	rs140511594	GRCh37: 2:166797621-166797621 GRCh38: 2:165941111-165941111
45	KIAA0753	NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)	SNV	Pathogenic	428615	rs762771340	GRCh37: 17:6526363-6526363 GRCh38: 17:6623043-6623043
46	KIAA0753	NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)	SNV	Pathogenic Pathogenic	428613	rs746068882	GRCh37: 17:6526336-6526336 GRCh38: 17:6623016-6623016
47	KIAA0753	NM_014804.3(KIAA0753):c.1271del (p.Pro424fs)	DEL	Pathogenic	428614	rs1555531363	GRCh37: 17:6524152-6524152 GRCh38: 17:6620832-6620832
48	TTC21B-AS1, TTC21B	NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter)	SNV	Pathogenic Pathogenic	216125	rs777162250	GRCh37: 2:166797563-166797563 GRCh38: 2:165941053-165941053
49	TTC21B	NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)	SNV	Pathogenic	30938	rs185089786	GRCh37: 2:166785800-166785800 GRCh38: 2:165929290-165929290
50	DYNC2H1	NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter)	SNV	Pathogenic	238272	rs754919042	GRCh37: 11:103043971-103043971 GRCh38: 11:103173242-103173242

Sources

Expression for Asphyxiating Thoracic Dystrophy

Search GEO for disease gene expression data for Asphyxiating Thoracic Dystrophy.

Sources

Pathways for Asphyxiating Thoracic Dystrophy

Pathways related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.5	WDR35 WDR19 TTC21B SPTAN1 LBR IFT140
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.55	DYNC2H1 DYNC2I1 DYNC2I2 IFT140 IFT80 IFT81
3	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.22	WDR35 WDR19 TTC21B IFT140 GRK2 EVC2
4	Ciliary landscape ⁷⁴	12.13	TRAF3IP1 IFT81 IFT80 IFT140 DYNC2I2 DYNC2I1
5	Ciliopathies ⁷⁴	11.68	KIAA0753 KIAA0586 EVC2
6	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.5	WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80
7	Intraflagellar transport ⁶⁶	11.39	WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80
8	3q29 copy number variation syndrome ⁷⁴	11.37	DYNC2I2 DYNC2I1 DYNC2H1
9	Intraflagellar transport proteins binding to dynein ⁷⁴	10.75	DYNC2I2 DYNC2I1 DYNC2H1

Sources

GO Terms for Asphyxiating Thoracic Dystrophy

Cellular components related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	centrosome	GO:0005813	10.36	DYNC2I1 DYNC2I2 IFT140 IFT80 IFT81 KIAA0586
2	ciliary basal body	GO:0036064	10.21	WDR35 TRAF3IP1 KIAA0586 IFT81 IFT80 IFT140
3	centriole	GO:0005814	10.18	KIAA0753 KIAA0586 IFT81 IFT140 DYNC2I2
4	cytoskeleton	GO:0005856	10.16	WDR35 WDR19 TTC21B TRAF3IP1 SPTAN1 KIAA0753
5	axoneme	GO:0005930	10.13	DYNC2H1 DYNC2I2 IFT140 TRAF3IP1 WDR35
6	cell projection	GO:0042995	10.03	DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140
7	cilium	GO:0005929	10.03	DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140
8	cytoplasmic dynein complex	GO:0005868	10	DYNC2I2 DYNC2I1 DYNC2H1
9	intraciliary transport particle B	GO:0030992	9.97	TRAF3IP1 IFT81 IFT80
10	microtubule organizing center	GO:0005815	9.93	WDR35 KIAA0753 KIAA0586 IFT140 DYNC2I2 DYNC2I1
11	intraciliary transport particle A	GO:0030991	9.92	IFT140 TTC21B WDR19 WDR35
12	ciliary plasm	GO:0097014	9.81	DYNC2I2 DYNC2I1
13	ciliary tip	GO:0097542	9.62	WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80

Biological processes related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	intraciliary transport	GO:0042073	10.03	DYNC2I1 DYNC2I2 IFT140 IFT81 TRAF3IP1 WDR35
2	microtubule-based movement	GO:0007018	9.97	DYNC2I2 DYNC2I1 DYNC2H1
3	protein localization to cilium	GO:0061512	9.97	WDR35 TTC21B IFT140 DYNC2H1
4	smoothened signaling pathway	GO:0007224	9.97	WDR19 TTC21B KIAA0586 IFT80 EVC2
5	non-motile cilium assembly	GO:1905515	9.93	IFT80 IFT140 DYNC2H1
6	regulation of smoothened signaling pathway	GO:0008589	9.91	TTC21B IFT81 IFT140
7	intraciliary anterograde transport	GO:0035720	9.88	IFT80 IFT81 TRAF3IP1
8	intraciliary retrograde transport	GO:0035721	9.8	DYNC2H1 DYNC2I1 DYNC2I2 IFT140 TTC21B WDR19
9	embryonic camera-type eye development	GO:0031076	9.78	WDR19 IFT140
10	cell projection organization	GO:0030030	9.76	WDR35 WDR19 TRAF3IP1 KIAA0586 IFT81 IFT140
11	cilium assembly	GO:0060271	9.7	WDR35 WDR19 TTC21B TRAF3IP1 KIAA0753 KIAA0586

Molecular functions related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dynein heavy chain binding	GO:0045504	9.26	DYNC2I2 DYNC2I1
2	dynein light chain binding	GO:0045503	8.92	DYNC2I2 DYNC2I1

Sources

Sources for Asphyxiating Thoracic Dystrophy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ATD MCID: ASP005 MIFTS: 50	Asphyxiating Thoracic Dystrophy (ATD) Categories: Bone diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Asphyxiating Thoracic Dystrophy (ATD)

Aliases & Classifications for Asphyxiating Thoracic Dystrophy

MalaCards integrated aliases for Asphyxiating Thoracic Dystrophy:

Classifications:

External Ids:

Summaries for Asphyxiating Thoracic Dystrophy

Related Diseases for Asphyxiating Thoracic Dystrophy

Diseases related to Asphyxiating Thoracic Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Asphyxiating Thoracic Dystrophy:

Symptoms & Phenotypes for Asphyxiating Thoracic Dystrophy

UMLS symptoms related to Asphyxiating Thoracic Dystrophy:

MGI Mouse Phenotypes related to Asphyxiating Thoracic Dystrophy:

Drugs & Therapeutics for Asphyxiating Thoracic Dystrophy

Interventional clinical trials:

Genetic Tests for Asphyxiating Thoracic Dystrophy

Genetic tests related to Asphyxiating Thoracic Dystrophy:

Anatomical Context for Asphyxiating Thoracic Dystrophy

Organs/tissues related to Asphyxiating Thoracic Dystrophy:

Publications for Asphyxiating Thoracic Dystrophy

Articles related to Asphyxiating Thoracic Dystrophy:

Genes for Asphyxiating Thoracic Dystrophy

Genes related to Asphyxiating Thoracic Dystrophy (18 elite genes):

Variations for Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

Expression for Asphyxiating Thoracic Dystrophy

Pathways for Asphyxiating Thoracic Dystrophy

Pathways related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

GO Terms for Asphyxiating Thoracic Dystrophy

Cellular components related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

Biological processes related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

Molecular functions related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

Sources for Asphyxiating Thoracic Dystrophy