SRTD11
MCID: SHR071
MIFTS: 40

Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly (SRTD11)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 57 12 72 29 6 15 70
Srtd11 57 12 72
Dysplasia, Thoracic, Short-Rib, Type 11 with or Without Polydactyly 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
most patients die in the neonatal period due to respiratory insufficiency


HPO:

31
short-rib thoracic dysplasia 11 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110095
OMIM® 57 615633
OMIM Phenotypic Series 57 PS208500
MeSH 44 D012779
ICD10 32 Q77.2
UMLS 70 C3810200

Summaries for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

OMIM® : 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (615633) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly, also known as srtd11, is related to orofaciodigital syndrome iv and geographic tongue. An important gene associated with Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly is DYNC2I2 (Dynein 2 Intermediate Chain 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Salmonella infection (KEGG). Affiliated tissues include eye, pancreas and bone, and related phenotypes are delayed speech and language development and cryptorchidism

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 11 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Related Diseases for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iv 9.8 DYNC2I2 DYNC2I1
2 geographic tongue 9.7 DYNLT2B DYNC2H1
3 short-rib thoracic dysplasia 7 with or without polydactyly 9.7 DYNLT2B DYNC2I1
4 short-rib thoracic dysplasia 4 with or without polydactyly 9.6 DYNLT2B DYNC2I1
5 bardet-biedl syndrome 7 9.4 DYNLT2B DYNLL2 DYNC2I2 DYNC2I1
6 primary ciliary dyskinesia 9.1 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 polydactyly 9.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
8 short-rib thoracic dysplasia 8 with or without polydactyly 9.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
9 short-rib thoracic dysplasia 12 9.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
10 weyers acrofacial dysostosis 9.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
11 cleft lip/palate 9.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
12 short-rib thoracic dysplasia 6 with or without polydactyly 9.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
13 cranioectodermal dysplasia 9.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
14 ellis-van creveld syndrome 8.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
15 short-rib thoracic dysplasia 3 with or without polydactyly 8.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
16 short-rib thoracic dysplasia 1 with or without polydactyly 8.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
17 asphyxiating thoracic dystrophy 8.7 DYNLT2B DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 occasional (7.5%) HP:0000750
2 cryptorchidism 31 occasional (7.5%) HP:0000028
3 obesity 31 occasional (7.5%) HP:0001513
4 polyhydramnios 31 occasional (7.5%) HP:0001561
5 nephrocalcinosis 31 occasional (7.5%) HP:0000121
6 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
7 postaxial polydactyly 31 occasional (7.5%) HP:0100259
8 respiratory insufficiency 31 HP:0002093
9 recurrent respiratory infections 31 HP:0002205
10 brachydactyly 31 HP:0001156
11 narrow chest 31 HP:0000774
12 short long bone 31 HP:0003026
13 bell-shaped thorax 31 HP:0001591
14 lateral clavicle hook 31 HP:0000895
15 horizontal ribs 31 HP:0000888
16 thoracic dysplasia 31 HP:0006644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
respiratory insufficiency
recurrent respiratory infections

Chest External Features:
bell-shaped thorax
long, narrow thorax

Skeletal Limbs:
short long bones
mild bowing of humeri and femora

Chest Ribs Sternum Clavicles And Scapulae:
short, horizontal ribs
handlebar clavicles

Growth Weight:
obesity (rare)

Skeletal Pelvis:
trident acetabulum with spurs
squared iliac wings
irregular sciatic notches

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (rare)

Skeletal Hands:
brachydactyly
postaxial polydactyly (rare)

Genitourinary Kidneys:
nephrocalcinosis (rare)
dilated renal pelvis (rare)
dilated calyces (rare)

Genitourinary Internal Genitalia Male:
cryptorchidism (rare)

Abdomen External Features:
protruding abdomen

Head And Neck Eyes:
rod-cone dystrophy (rare)

Neurologic Central Nervous System:
speech and language delay (rare)

Clinical features from OMIM®:

615633 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 29 DYNC2I2

Anatomical Context for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

40
Eye, Pancreas, Bone

Publications for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

# Title Authors PMID Year
1
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 6 57
24183451 2013
2
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. 6 57
24183449 2013
3
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 57 6
19610081 2009
4
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
5
Ciliary disorder of the skeleton. 57
22791528 2012

Variations for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

6 (show all 47)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYNC2I2 NM_052844.3(DYNC2I2):c.1022C>T (p.Ala341Val) SNV Pathogenic 97037 rs587777091 GRCh37: 9:131397160-131397160
GRCh38: 9:128634881-128634881
2 DYNC2I2 NM_052844.3(DYNC2I2):c.1061C>T (p.Thr354Met) SNV Pathogenic 97038 rs587777092 GRCh37: 9:131397121-131397121
GRCh38: 9:128634842-128634842
3 DYNC2I2 NM_052844.3(DYNC2I2):c.1339C>T (p.Arg447Trp) SNV Pathogenic 97039 rs587777093 GRCh37: 9:131396538-131396538
GRCh38: 9:128634259-128634259
4 DYNC2I2 NM_052844.3(DYNC2I2):c.1340G>A (p.Arg447Gln) SNV Pathogenic 97040 rs587777094 GRCh37: 9:131396537-131396537
GRCh38: 9:128634258-128634258
5 DYNC2I2 NM_052844.3(DYNC2I2):c.982-2A>C SNV Pathogenic 97041 rs587777095 GRCh37: 9:131397202-131397202
GRCh38: 9:128634923-128634923
6 DYNC2I2 NM_052844.3(WDR34):c.1539_1540CA[1] (p.Thr514fs) Microsatellite Pathogenic 97043 rs431905519 GRCh37: 9:131396092-131396093
GRCh38: 9:128633813-128633814
7 DYNC2I2 NM_052844.3(DYNC2I2):c.472C>T (p.Gln158Ter) SNV Pathogenic 97044 rs587777097 GRCh37: 9:131399270-131399270
GRCh38: 9:128636991-128636991
8 DYNC2I2 NM_052844.3(DYNC2I2):c.1307A>G (p.Lys436Arg) SNV Pathogenic 97045 rs587777098 GRCh37: 9:131396570-131396570
GRCh38: 9:128634291-128634291
9 DYNC2I2 NM_052844.3(DYNC2I2):c.1312_1313del (p.Leu438fs) Deletion Pathogenic 665979 rs753802842 GRCh37: 9:131396564-131396565
GRCh38: 9:128634285-128634286
10 DYNC2I2 NM_052844.3(DYNC2I2):c.26del (p.Pro9fs) Deletion Pathogenic 576613 rs763975565 GRCh37: 9:131418980-131418980
GRCh38: 9:128656701-128656701
11 DYNC2I2 NC_000009.12:g.128634800_128634801TC[1] Microsatellite Pathogenic 838321 GRCh37: 9:131397078-131397079
GRCh38: 9:128634799-128634800
12 DYNC2I2 NM_052844.3(DYNC2I2):c.1177G>A (p.Gly393Ser) SNV Pathogenic 97042 rs587777096 GRCh37: 9:131397005-131397005
GRCh38: 9:128634726-128634726
13 overlap with 2 genes NC_000009.12:g.(?_128632127)_(128640939_?)del Deletion Pathogenic 583607 GRCh37: 9:131394406-131403218
GRCh38: 9:128632127-128640939
14 DYNC2I2 NM_052844.4(DYNC2I2):c.361C>T (p.Arg121Ter) SNV Pathogenic 1032345 GRCh37: 9:131403044-131403044
GRCh38: 9:128640765-128640765
15 DYNC2I2 NM_052844.3(DYNC2I2):c.1340_1341delinsTA (p.Arg447Leu) Indel Likely pathogenic 869424 GRCh37: 9:131396536-131396537
GRCh38: 9:128634257-128634258
16 DYNC2I2 NM_052844.3(DYNC2I2):c.280C>T (p.Pro94Ser) SNV Uncertain significance 934202 GRCh37: 9:131403125-131403125
GRCh38: 9:128640846-128640846
17 DYNC2I2 NM_052844.3(DYNC2I2):c.140C>G (p.Ser47Cys) SNV Uncertain significance 972006 GRCh37: 9:131418866-131418866
GRCh38: 9:128656587-128656587
18 DYNC2I2 NM_052844.3(DYNC2I2):c.299C>T (p.Pro100Leu) SNV Uncertain significance 838324 GRCh37: 9:131403106-131403106
GRCh38: 9:128640827-128640827
19 DYNC2I2 NM_052844.3(DYNC2I2):c.637G>A (p.Val213Met) SNV Uncertain significance 855356 GRCh37: 9:131398626-131398626
GRCh38: 9:128636347-128636347
20 overlap with 2 genes NC_000009.11:g.(?_131386587)_(131399326_?)dup Duplication Uncertain significance 583833 GRCh37: 9:131386587-131399326
GRCh38: 9:128624308-128637047
21 DYNC2I2 NM_052844.3(DYNC2I2):c.1424T>C (p.Leu475Ser) SNV Uncertain significance 474847 rs748451019 GRCh37: 9:131396210-131396210
GRCh38: 9:128633931-128633931
22 DYNC2I2 NM_052844.3(DYNC2I2):c.1499C>T (p.Ala500Val) SNV Uncertain significance 569453 rs142210358 GRCh37: 9:131396135-131396135
GRCh38: 9:128633856-128633856
23 DYNC2I2 NM_052844.4(DYNC2I2):c.59C>T (p.Ala20Val) SNV Uncertain significance 1041764 GRCh37: 9:131418947-131418947
GRCh38: 9:128656668-128656668
24 DYNC2I2 NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp) SNV Uncertain significance 1029041 GRCh37: 9:131397011-131397011
GRCh38: 9:128634732-128634732
25 DYNC2I2 NM_052844.3(DYNC2I2):c.1013C>T (p.Thr338Met) SNV Uncertain significance 842076 GRCh37: 9:131397169-131397169
GRCh38: 9:128634890-128634890
26 DYNC2I2 NM_052844.3(DYNC2I2):c.1564C>T (p.Arg522Trp) SNV Uncertain significance 970385 GRCh37: 9:131396070-131396070
GRCh38: 9:128633791-128633791
27 overlap with 2 genes NC_000009.11:g.(?_131386587)_(131399326_?)dup Duplication Uncertain significance 1016171 GRCh37: 9:131386587-131399326
GRCh38:
28 DYNC2I2 NC_000009.11:g.131403095_131403096delinsTG Inversion Uncertain significance 1026846 GRCh37: 9:131403095-131403096
GRCh38: 9:128640816-128640817
29 DYNC2I2 NM_052844.3(DYNC2I2):c.1565G>A (p.Arg522Gln) SNV Uncertain significance 936974 GRCh37: 9:131396069-131396069
GRCh38: 9:128633790-128633790
30 DYNC2I2 NM_052844.3(DYNC2I2):c.1131C>T (p.Ser377=) SNV Likely benign 789779 rs149225851 GRCh37: 9:131397051-131397051
GRCh38: 9:128634772-128634772
31 DYNC2I2 NM_052844.3(DYNC2I2):c.1506T>C (p.Asp502=) SNV Likely benign 541693 rs1054532891 GRCh37: 9:131396128-131396128
GRCh38: 9:128633849-128633849
32 DYNC2I2 NM_052844.3(DYNC2I2):c.1372+10G>C SNV Likely benign 474846 rs1023019503 GRCh37: 9:131396495-131396495
GRCh38: 9:128634216-128634216
33 DYNC2I2 NM_052844.3(DYNC2I2):c.1310A>G (p.Tyr437Cys) SNV Likely benign 707212 rs186236478 GRCh37: 9:131396567-131396567
GRCh38: 9:128634288-128634288
34 DYNC2I2 NM_052844.3(DYNC2I2):c.187-10C>T SNV Likely benign 728312 rs548224589 GRCh37: 9:131403228-131403228
GRCh38: 9:128640949-128640949
35 DYNC2I2 NM_052844.3(DYNC2I2):c.405C>T (p.Phe135=) SNV Likely benign 746610 rs772333040 GRCh37: 9:131403000-131403000
GRCh38: 9:128640721-128640721
36 DYNC2I2 NM_052844.3(DYNC2I2):c.569C>T (p.Thr190Met) SNV Likely benign 771253 rs142859913 GRCh37: 9:131398694-131398694
GRCh38: 9:128636415-128636415
37 DYNC2I2 NM_052844.3(DYNC2I2):c.1116G>A (p.Thr372=) SNV Benign 772280 rs138690108 GRCh37: 9:131397066-131397066
GRCh38: 9:128634787-128634787
38 DYNC2I2 NM_052844.3(DYNC2I2):c.616C>T (p.Arg206Cys) SNV Benign 772498 rs148543026 GRCh37: 9:131398647-131398647
GRCh38: 9:128636368-128636368
39 DYNC2I2 NM_052844.3(DYNC2I2):c.1373-5T>G SNV Benign 707352 rs16930544 GRCh37: 9:131396266-131396266
GRCh38: 9:128633987-128633987
40 DYNC2I2 NM_052844.3(DYNC2I2):c.1350T>A (p.Val450=) SNV Benign 707471 rs200052239 GRCh37: 9:131396527-131396527
GRCh38: 9:128634248-128634248
41 DYNC2I2 NM_052844.3(DYNC2I2):c.178T>G (p.Trp60Gly) SNV Benign 516203 rs4837292 GRCh37: 9:131418828-131418828
GRCh38: 9:128656549-128656549
42 DYNC2I2 NM_052844.3(DYNC2I2):c.1008C>T (p.Gly336=) SNV Benign 474843 rs146077746 GRCh37: 9:131397174-131397174
GRCh38: 9:128634895-128634895
43 DYNC2I2 NM_052844.3(DYNC2I2):c.888A>G (p.Leu296=) SNV Benign 474850 rs140034879 GRCh37: 9:131397464-131397464
GRCh38: 9:128635185-128635185
44 DYNC2I2 NM_052844.3(DYNC2I2):c.187-3C>A SNV Benign 474848 rs12380424 GRCh37: 9:131403221-131403221
GRCh38: 9:128640942-128640942
45 DYNC2I2 NM_052844.3(DYNC2I2):c.957G>A (p.Leu319=) SNV Benign 474851 rs75450756 GRCh37: 9:131397395-131397395
GRCh38: 9:128635116-128635116
46 DYNC2I2 NM_052844.3(DYNC2I2):c.630G>A (p.Pro210=) SNV Benign 474849 rs61744155 GRCh37: 9:131398633-131398633
GRCh38: 9:128636354-128636354
47 DYNC2I2 NM_052844.3(DYNC2I2):c.1066G>A (p.Gly356Ser) SNV Benign 474844 rs17849504 GRCh37: 9:131397116-131397116
GRCh38: 9:128634837-128634837

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 DYNC2I2 p.Cys148Phe VAR_070963
2 DYNC2I2 p.Ala341Val VAR_070965 rs587777091
3 DYNC2I2 p.Thr354Met VAR_070966 rs587777092
4 DYNC2I2 p.Pro390Leu VAR_070967
5 DYNC2I2 p.Gly393Ser VAR_070968 rs587777096
6 DYNC2I2 p.Ser410Ile VAR_070969
7 DYNC2I2 p.Lys436Arg VAR_070970 rs587777098
8 DYNC2I2 p.Arg447Gln VAR_070971 rs587777094
9 DYNC2I2 p.Arg447Trp VAR_070972 rs587777093
10 DYNC2I2 p.Arg182Trp VAR_083840

Expression for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 DYNLT2B DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
2
Show member pathways
12.08 DYNLL2 DYNC2LI1 DYNC2H1
3 10.98 DYNLL2 DYNC2LI1 DYNC2H1
4 10.71 DYNLT2B DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

GO Terms for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
2 cell projection GO:0042995 9.8 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
3 centrosome GO:0005813 9.72 DYNLT2B DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1
4 microtubule organizing center GO:0005815 9.7 DYNC2LI1 DYNC2I2 DYNC2I1
5 microtubule GO:0005874 9.69 DYNLL2 DYNC2LI1 DYNC2H1
6 cilium GO:0005929 9.63 DYNLT2B DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 ciliary basal body GO:0036064 9.57 DYNC2LI1 DYNC2I2
8 motile cilium GO:0031514 9.56 DYNC2LI1 DYNC2H1
9 axoneme GO:0005930 9.56 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2H1
10 spindle pole GO:0000922 9.55 DYNLT2B DYNC2I1
11 apical part of cell GO:0045177 9.54 DYNC2LI1 DYNC2H1
12 dynein complex GO:0030286 9.54 DYNLL2 DYNC2LI1 DYNC2H1
13 ciliary base GO:0097546 9.48 DYNLT2B DYNC2I1
14 ciliary plasm GO:0097014 9.43 DYNC2I2 DYNC2I1
15 interphase microtubule organizing center GO:0031021 9.4 DYNLT2B DYNC2I1
16 ciliary tip GO:0097542 9.35 DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
17 cytoplasmic dynein complex GO:0005868 9.1 DYNLT2B DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

Biological processes related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.63 DYNLT2B DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
2 cell projection organization GO:0030030 9.5 DYNC2LI1 DYNC2I1 DYNC2H1
3 determination of left/right symmetry GO:0007368 9.43 DYNC2LI1 DYNC2H1
4 microtubule-based movement GO:0007018 9.43 DYNC2I2 DYNC2I1 DYNC2H1
5 regulation of cilium assembly GO:1902017 9.4 DYNLT2B DYNC2LI1
6 intraciliary transport GO:0042073 9.37 DYNC2I2 DYNC2I1
7 intraciliary transport involved in cilium assembly GO:0035735 9.35 DYNLL2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
8 intraciliary retrograde transport GO:0035721 9.02 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

Molecular functions related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.33 DYNLL2 DYNC2LI1 DYNC2H1
2 dynein light intermediate chain binding GO:0051959 9.32 DYNLL2 DYNC2H1
3 dynein light chain binding GO:0045503 9.26 DYNC2I2 DYNC2I1
4 dynein intermediate chain binding GO:0045505 9.13 DYNLT2B DYNLL2 DYNC2H1
5 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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