SEDT
MCID: SPN405
MIFTS: 45

Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda, X-Linked:

Name: Spondyloepiphyseal Dysplasia Tarda, X-Linked 58 56 74
Spondyloepiphyseal Dysplasia Tarda 58 12 76 38 30 13 6 15 41
X-Linked Spondyloepiphyseal Dysplasia Tarda 12 25 26
Sedt 58 76
Spondyloepiphyseal Dysplasia Tarda X-Linked 54
X Linked Spondyloepiphyseal Dysplasia Tarda 54
Late Onset Spondyloepiphyseal Dysplasia 26
X-Linked Spondyloepiphyseal Dysplasia 54
Dysplasia, Spondyloepiphyseal, Tarda 41
Spondyloepiphyseal Dysplasia, Late 58
Spondyloepiphyseal Dysplasia 74
Sed Tarda, X-Linked 58
X-Linked Sedt 26
X-Linked Sed 26
Sed Tarda 26
Sed 54

Characteristics:

OMIM:

58
Miscellaneous:
arthralgias
age of onset 5-10 years
carrier females have arthralgias in middle age

Inheritance:
x-linked recessive


HPO:

33
spondyloepiphyseal dysplasia tarda, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia Tarda, X-Linked

NIH Rare Diseases : 54 X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that  affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, X-Linked, also known as spondyloepiphyseal dysplasia tarda, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and spondyloepiphyseal dysplasia tarda with characteristic facies, and has symptoms including arthralgia An important gene associated with Spondyloepiphyseal Dysplasia Tarda, X-Linked is TRAPPC2 (Trafficking Protein Particle Complex 2), and among its related pathways/superpathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include bone, and related phenotypes are abnormality of epiphysis morphology and arthralgia

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22.

Genetics Home Reference : 26 X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.

UniProtKB/Swiss-Prot : 76 Spondyloepiphyseal dysplasia tarda: X-linked recessive disorder of endochondral bone formation.

Description from OMIM: 313400
GeneReviews:

Related Diseases for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Diseases related to Spondyloepiphyseal Dysplasia Tarda, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 30.3 COL2A1 TRAPPC2
2 spondyloepiphyseal dysplasia tarda with characteristic facies 12.5
3 spondyloepiphyseal dysplasia tarda, autosomal recessive 12.4
4 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type 12.4
5 spondyloepiphyseal dysplasia, maroteaux type 11.9
6 spondyloepiphyseal dysplasia congenita 11.6
7 brachyolmia type 1, toledo type 11.5
8 arthropathy, progressive pseudorheumatoid, of childhood 11.4
9 spondyloepiphyseal dysplasia tarda, autosomal dominant 11.3
10 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.3
11 spondyloepiphyseal dysplasia, stanescu type 11.3
12 spondyloepiphyseal dysplasia tarda with mental retardation 11.1
13 hereditary sensory and autonomic neuropathy type 1 11.1
14 amnestic disorder 11.1
15 fetal thalidomide syndrome 11.1
16 spondyloepimetaphyseal dysplasia, strudwick type 11.0
17 psychotic disorder 10.8
18 arthritis 10.4
19 joint disorders 10.4
20 osteoarthritis 10.4
21 lymphoma 10.3
22 withdrawal disorder 10.3
23 rheumatoid arthritis 10.2
24 cataract 10.2
25 osteochondritis dissecans 10.2
26 brachydactyly 10.2
27 nephrotic syndrome 10.2
28 turner syndrome 10.2
29 paraplegia 10.2
30 juvenile rheumatoid arthritis 10.2
31 allergic rhinitis 10.1
32 anxiety 10.1
33 subacute delirium 10.1
34 pollen allergy 10.1
35 acute respiratory distress syndrome 10.1
36 alacrima, achalasia, and mental retardation syndrome 10.1
37 arthropathy 10.1
38 alcohol dependence 10.0
39 diabetes mellitus 10.0
40 dementia 10.0
41 ocular motor apraxia 9.9
42 sleep apnea 9.9
43 granulocytopenia 9.9
44 encephalopathy 9.9
45 x-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome 9.9
46 bone disease 9.9 COL2A1 TRAPPC2
47 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.9 COL2A1 TRAPPC2
48 burkitt lymphoma 9.8
49 multiple sclerosis 9.8
50 attention deficit-hyperactivity disorder 9.8

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:



Diseases related to Spondyloepiphyseal Dysplasia Tarda, X-Linked

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 abnormality of epiphysis morphology 33 hallmark (90%) HP:0005930
2 arthralgia 33 hallmark (90%) HP:0002829
3 platyspondyly 33 hallmark (90%) HP:0000926
4 upper limb undergrowth 33 hallmark (90%) HP:0009824
5 short thorax 33 hallmark (90%) HP:0010306
6 thoracic kyphosis 33 hallmark (90%) HP:0002942
7 disproportionate short stature 33 hallmark (90%) HP:0003498
8 barrel-shaped chest 33 hallmark (90%) HP:0001552
9 spondyloepiphyseal dysplasia 33 hallmark (90%) HP:0002655
10 short neck 33 frequent (33%) HP:0000470
11 scoliosis 33 frequent (33%) HP:0002650
12 hypoplastic iliac wing 33 frequent (33%) HP:0002866
13 coxa vara 33 frequent (33%) HP:0002812
14 hypoplasia of the odontoid process 33 frequent (33%) HP:0003311
15 lumbar hyperlordosis 33 frequent (33%) HP:0002938
16 hip osteoarthritis 33 frequent (33%) HP:0008843
17 kyphosis 33 HP:0002808
18 disproportionate short-trunk short stature 33 HP:0003521
19 opacification of the corneal stroma 33 HP:0007759
20 limitation of joint mobility 33 HP:0001376
21 shield chest 33 HP:0000914
22 irregular epiphyses 33 HP:0010582
23 short femoral neck 33 HP:0100864
24 hypoplasia of the capital femoral epiphysis 33 HP:0003090
25 hump-shaped mound of bone in central and posterior portions of vertebral endplate 33 HP:0004594

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Growth Height:
short stature
short trunk
final adult height 131-156 cm

Skeletal Limbs:
short femoral neck
small capital femoral epiphyses
mild epiphyseal irregularities

Chest External Features:
broad chest

Skeletal Spine:
kyphosis
platyspondyly
lumbar hyperlordosis
mild scoliosis
hump-shaped mound of bone in central and posterior portions of vertebral endplate
more
Skeletal Pelvis:
coxa vara
small iliac wings

Head And Neck Eyes:
corneal opacities

Skeletal:
osteoarthritis (back, hip, knee)
limited joint motion

Clinical features from OMIM:

313400

UMLS symptoms related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:


arthralgia

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
2 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Genetic Tests for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Genetic tests related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Tarda 30 TRAPPC2

Anatomical Context for Spondyloepiphyseal Dysplasia Tarda, X-Linked

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

42
Bone

Publications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Articles related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

(show top 50) (show all 88)
# Title Authors Year
1
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. ( 30083037 )
2018
2
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). ( 30647738 )
2018
3
Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family. ( 27401665 )
2016
4
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. ( 27890699 )
2016
5
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 26252088 )
2015
6
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. ( 25553839 )
2015
7
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. ( 26594095 )
2015
8
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ( 25297591 )
2014
9
Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. ( 24862418 )
2014
10
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. ( 24841781 )
2014
11
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 23876379 )
2013
12
Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia. ( 23675282 )
2012
13
Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. ( 22228351 )
2012
14
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree. ( 22563562 )
2012
15
Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia. ( 21273896 )
2011
16
Large Osteochondral Fracture in a Patient with Bilateral Bicondylar Osteochondritis Dissecans and Spondyloepiphyseal Dysplasia Tarda. ( 26815696 )
2010
17
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 19766614 )
2009
18
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. ( 19650763 )
2009
19
Spondyloepiphyseal dysplasia tarda: four cases from two families. ( 18932001 )
2009
20
A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. ( 19417549 )
2009
21
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda. ( 19002213 )
2009
22
[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. ( 18393234 )
2008
23
[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 18247296 )
2008
24
Slipped upper femoral epiphysis in a child with spondyloepiphyseal dysplasia tarda: a rare coincidence? ( 19197873 )
2007
25
Mutant WISP3 triggers the phenotype shift of articular chondrocytes by promoting sensitivity to IGF-1 hypothesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA). ( 17363178 )
2007
26
Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. ( 15952107 )
2005
27
[Proliferation, differentiation, and gene expression profile of osteoblast of patient with spondyloepiphyseal dysplasia tarda with progressive arthropathy]. ( 16029628 )
2005
28
Spondyloepiphyseal dysplasia tarda: description of one case. ( 16681109 )
2005
29
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15641278 )
2004
30
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. ( 14755465 )
2004
31
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. ( 15221797 )
2004
32
[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda]. ( 15300622 )
2004
33
Gene symbol: WISP3. Disease: spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15300964 )
2004
34
[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations]. ( 15631777 )
2004
35
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda. ( 14755466 )
2004
36
A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. ( 12650905 )
2003
37
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly. ( 14624098 )
2003
38
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ( 12939648 )
2003
39
[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 12579492 )
2003
40
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease. ( 14763708 )
2003
41
Spondyloepiphyseal dysplasia tarda simulating juvenile chronic arthritis. ( 14611128 )
2003
42
Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. ( 12123495 )
2002
43
A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. ( 12446987 )
2002
44
An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. ( 12030902 )
2002
45
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. ( 12361953 )
2002
46
Spondyloepiphyseal dysplasia tarda: report of one case. ( 12041616 )
2002
47
The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. ( 11595175 )
2001
48
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. ( 11349230 )
2001
49
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. ( 11760838 )
2001
50
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. ( 11252002 )
2001

Variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked:

76
# Symbol AA change Variation ID SNP ID
1 TRAPPC2 p.Asp47Tyr VAR_012358
2 TRAPPC2 p.Ser73Leu VAR_012359 rs769218264
3 TRAPPC2 p.Val130Asp VAR_012360
4 TRAPPC2 p.Phe83Ser VAR_012361 rs104894948

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh37 Chromosome X, 13752240: 13752240
2 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh38 Chromosome X, 13734121: 13734121
3 TRAPPC2 NM_014563.5(TRAPPC2): c.53_54delTT (p.Phe18Terfs) deletion Pathogenic rs587776748 GRCh37 Chromosome X, 13738029: 13738030
4 TRAPPC2 NM_014563.5(TRAPPC2): c.53_54delTT (p.Phe18Terfs) deletion Pathogenic rs587776748 GRCh38 Chromosome X, 13719910: 13719911
5 TRAPPC2 NM_014563.5(TRAPPC2): c.191_192delTG (p.Val64Glyfs) deletion Pathogenic rs587776749 GRCh37 Chromosome X, 13734699: 13734700
6 TRAPPC2 NM_014563.5(TRAPPC2): c.191_192delTG (p.Val64Glyfs) deletion Pathogenic rs587776749 GRCh38 Chromosome X, 13716580: 13716581
7 TRAPPC2 NM_014563.5(TRAPPC2): c.157_158delAT (p.Met53Valfs) deletion Pathogenic rs587776750 GRCh37 Chromosome X, 13734733: 13734734
8 TRAPPC2 NM_014563.5(TRAPPC2): c.157_158delAT (p.Met53Valfs) deletion Pathogenic rs587776750 GRCh38 Chromosome X, 13716614: 13716615
9 TRAPPC2 NM_014563.5(TRAPPC2): c.271_275delCAAGA (p.Gln91Argfs) deletion Pathogenic rs587776751 GRCh37 Chromosome X, 13734172: 13734176
10 TRAPPC2 NM_014563.5(TRAPPC2): c.271_275delCAAGA (p.Gln91Argfs) deletion Pathogenic rs587776751 GRCh38 Chromosome X, 13716053: 13716057
11 TRAPPC2 NM_001011658.3(TRAPPC2): c.93+5G> A single nucleotide variant Pathogenic rs587776752 GRCh37 Chromosome X, 13737985: 13737985
12 TRAPPC2 NM_001011658.3(TRAPPC2): c.93+5G> A single nucleotide variant Pathogenic rs587776752 GRCh38 Chromosome X, 13719866: 13719866
13 TRAPPC2 NM_001011658.3(TRAPPC2): c.248T> C (p.Phe83Ser) single nucleotide variant Pathogenic rs104894948 GRCh37 Chromosome X, 13734199: 13734199
14 TRAPPC2 NM_001011658.3(TRAPPC2): c.248T> C (p.Phe83Ser) single nucleotide variant Pathogenic rs104894948 GRCh38 Chromosome X, 13716080: 13716080
15 TRAPPC2 NM_001011658.3(TRAPPC2): c.391C> T (p.Gln131Ter) single nucleotide variant Pathogenic rs122460156 GRCh37 Chromosome X, 13732558: 13732558
16 TRAPPC2 NM_001011658.3(TRAPPC2): c.391C> T (p.Gln131Ter) single nucleotide variant Pathogenic rs122460156 GRCh38 Chromosome X, 13714439: 13714439
17 TRAPPC2 NM_001011658.3(TRAPPC2): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs104894949 GRCh37 Chromosome X, 13732620: 13732620
18 TRAPPC2 NM_001011658.3(TRAPPC2): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs104894949 GRCh38 Chromosome X, 13714501: 13714501
19 TRAPPC2 NM_001011658.3(TRAPPC2): c.238+4T> C single nucleotide variant Pathogenic rs587776753 GRCh37 Chromosome X, 13734649: 13734649
20 TRAPPC2 NM_001011658.3(TRAPPC2): c.238+4T> C single nucleotide variant Pathogenic rs587776753 GRCh38 Chromosome X, 13716530: 13716530
21 TRAPPC2 NM_014563.5(TRAPPC2): c.387delA (p.Val130Phefs) deletion Pathogenic rs587776754 GRCh37 Chromosome X, 13732562: 13732562
22 TRAPPC2 NM_014563.5(TRAPPC2): c.387delA (p.Val130Phefs) deletion Pathogenic rs587776754 GRCh38 Chromosome X, 13714443: 13714443
23 TRAPPC2 NM_001011658.3(TRAPPC2): c.239-11_239-9delAAT deletion Pathogenic rs587777330 GRCh37 Chromosome X, 13734217: 13734219
24 TRAPPC2 NM_001011658.3(TRAPPC2): c.239-11_239-9delAAT deletion Pathogenic rs587777330 GRCh38 Chromosome X, 13716098: 13716100

Expression for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Tarda, X-Linked.

Pathways for Spondyloepiphyseal Dysplasia Tarda, X-Linked

GO Terms for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Cellular components related to Spondyloepiphyseal Dysplasia Tarda, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.46 MIA3 TRAPPC2 TRAPPC3 TRAPPC9
2 Golgi membrane GO:0000139 9.26 MIA3 TRAPPC2 TRAPPC3 TRAPPC9
3 TRAPP complex GO:0030008 8.8 TRAPPC2 TRAPPC3 TRAPPC9

Biological processes related to Spondyloepiphyseal Dysplasia Tarda, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.33 MIA3 TRAPPC2 TRAPPC3
2 skeletal system development GO:0001501 9.26 COL2A1 TRAPPC2
3 ER to Golgi vesicle-mediated transport GO:0006888 9.13 MIA3 TRAPPC2 TRAPPC3
4 COPII vesicle coating GO:0048208 8.8 TRAPPC2 TRAPPC3 TRAPPC9

Molecular functions related to Spondyloepiphyseal Dysplasia Tarda, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 8.8 TRAPPC2 TRAPPC3 TRAPPC9

Sources for Spondyloepiphyseal Dysplasia Tarda, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....