SMC1
MCID: SMT022
MIFTS: 47

Smith-Mccort Dysplasia 1 (SMC1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Smith-Mccort Dysplasia 1

MalaCards integrated aliases for Smith-Mccort Dysplasia 1:

Name: Smith-Mccort Dysplasia 1 57 72 29 6 70
Smith-Mccort Dysplasia 57 12 58 72 36 29 13 6 44 15 70
Smith Mccort Dysplasia 20 39
Smc1 57 72
Smc 57 72
Smith-Mccort Dwarfism 20

Characteristics:

Orphanet epidemiological data:

58
smith-mccort dysplasia
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
waddling gait
allelic to dyggve-melchior-clausen disease

Inheritance:
autosomal recessive


HPO:

31
smith-mccort dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060247
OMIM® 57 607326
OMIM Phenotypic Series 57 PS607326
KEGG 36 H02497
SNOMED-CT 67 715862006
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C1846431
Orphanet 58 ORPHA178355
UMLS 70 C1846431 C3888088

Summaries for Smith-Mccort Dysplasia 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178355 Definition Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.

MalaCards based summary : Smith-Mccort Dysplasia 1, also known as smith-mccort dysplasia, is related to dyggve-melchior-clausen disease and smith-mccort dysplasia 2, and has symptoms including waddling gait An important gene associated with Smith-Mccort Dysplasia 1 is DYM (Dymeclin), and among its related pathways/superpathways are Vesicle-mediated transport and Mitotic Prophase. Affiliated tissues include spinal cord, lung and eye, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.

OMIM® : 57 Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC (Spranger et al., 1976; Nakamura et al., 1997). (607326) (Updated 20-May-2021)

KEGG : 36 Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence and no microcephaly. SMC has been shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN. Recently, a missense mutation in RAB33B has been identified in a SMC family. RAB33B is another Golgi protein involved in retrograde transport of Golgi vesicles.

UniProtKB/Swiss-Prot : 72 Smith-McCort dysplasia 1: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.

Related Diseases for Smith-Mccort Dysplasia 1

Diseases in the Smith-Mccort Dysplasia 1 family:

Smith-Mccort Dysplasia 2

Diseases related to Smith-Mccort Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 dyggve-melchior-clausen disease 30.7 STX5 RABGEF1 RABEP1 RAB33B GORASP1 GOLGA2
2 smith-mccort dysplasia 2 11.0
3 metaphyseal dysplasia 10.3
4 ataxia-telangiectasia 10.3
5 ataxia and polyneuropathy, adult-onset 10.3
6 telangiectasis 10.3
7 nondisjunction 10.2
8 spondyloepimetaphyseal dysplasia, strudwick type 10.2
9 microcephaly 10.2
10 osteochondrodysplasia 10.2
11 juvenile rheumatoid arthritis 10.2
12 nijmegen breakage syndrome 10.1
13 malaria 10.1
14 aortic aneurysm 10.1
15 aneurysm 10.1
16 hepatocellular carcinoma 10.0
17 cornelia de lange syndrome 1 10.0
18 insulin-like growth factor i 10.0
19 cornelia de lange syndrome 10.0
20 vascular disease 10.0
21 warburg micro syndrome 9.9 RAB33B RAB2A
22 angelman syndrome 9.9
23 donohue syndrome 9.9
24 aortic aneurysm, familial thoracic 1 9.9
25 pulmonary hypertension 9.9
26 colitis 9.9
27 duodenal ulcer 9.9
28 arteriosclerosis 9.9
29 breast adenocarcinoma 9.9
30 neuroblastoma 9.9
31 ulcerative colitis 9.9
32 duodenitis 9.9
33 vasculitis 9.9
34 colorectal cancer 9.9
35 fanconi anemia, complementation group d2 9.9
36 fanconi anemia, complementation group a 9.9
37 retinitis pigmentosa 9.9
38 helix syndrome 9.9
39 neuroretinitis 9.9
40 retinitis 9.9
41 achondrogenesis 9.8 GORASP1 GOLGA2
42 aortic aneurysm, familial abdominal, 1 9.8
43 cat eye syndrome 9.8
44 marfan syndrome 9.8
45 polykaryocytosis inducer 9.8
46 prader-willi syndrome 9.8
47 prostate cancer 9.8
48 pulmonary hypertension, primary, 1 9.8
49 spherocytosis, type 1 9.8
50 bloom syndrome 9.8

Graphical network of the top 20 diseases related to Smith-Mccort Dysplasia 1:



Diseases related to Smith-Mccort Dysplasia 1

Symptoms & Phenotypes for Smith-Mccort Dysplasia 1

Human phenotypes related to Smith-Mccort Dysplasia 1:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 beaking of vertebral bodies 31 HP:0004568
4 microcephaly 31 HP:0000252
5 genu valgum 31 HP:0002857
6 disproportionate short-trunk short stature 31 HP:0003521
7 waddling gait 31 HP:0002515
8 dolichocephaly 31 HP:0000268
9 platyspondyly 31 HP:0000926
10 genu varum 31 HP:0002970
11 short metacarpal 31 HP:0010049
12 hypoplastic scapulae 31 HP:0000882
13 hypoplasia of the odontoid process 31 HP:0003311
14 prominent sternum 31 HP:0000884
15 short phalanx of finger 31 HP:0009803
16 irregular epiphyses 31 HP:0010582
17 metaphyseal irregularity 31 HP:0003025
18 barrel-shaped chest 31 HP:0001552
19 hypoplastic acetabulae 31 HP:0003274
20 atlantoaxial instability 31 HP:0003467
21 hypoplastic facial bones 31 HP:0002692
22 deformed sella turcica 31 HP:0002681
23 delayed femoral head ossification 31 HP:0008829
24 multicentric femoral head ossification 31 HP:0008835

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
atlantoaxial instability
odontoid hypoplasia
more
Skeletal Limbs:
genu valgum
genu varum
irregular epiphyses
irregular metaphyses

Skeletal Skull:
hypoplastic facial bones
deformed sella turcica
small calvarium

Neurologic Central Nervous System:
normal intelligence

Chest Ribs Sternum Clavicles And Scapulae:
sternal protrusion
short scapulae

Head And Neck Head:
microcephaly
dolichocephaly

Skeletal Pelvis:
hypoplastic acetabulae
delayed femoral head ossification
multicentric femoral head ossification
short ischia
lacy iliac crest
more
Skeletal Hands:
short metacarpals
short phalanges

Growth Height:
short stature, disproportionate (short trunk)

Chest External Features:
short barrel-shaped chest

Clinical features from OMIM®:

607326 (Updated 20-May-2021)

UMLS symptoms related to Smith-Mccort Dysplasia 1:


waddling gait

Drugs & Therapeutics for Smith-Mccort Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Smith-Mccort Dysplasia 1

Cochrane evidence based reviews: smith-mccort dysplasia

Genetic Tests for Smith-Mccort Dysplasia 1

Genetic tests related to Smith-Mccort Dysplasia 1:

# Genetic test Affiliating Genes
1 Smith-Mccort Dysplasia 1 29 DYM
2 Smith-Mccort Dysplasia 29

Anatomical Context for Smith-Mccort Dysplasia 1

MalaCards organs/tissues related to Smith-Mccort Dysplasia 1:

40
Spinal Cord, Lung, Eye, Brain, Breast, Prostate

Publications for Smith-Mccort Dysplasia 1

Articles related to Smith-Mccort Dysplasia 1:

(show all 16)
# Title Authors PMID Year
1
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 61 6 57
12491225 2003
2
Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene. 6 57
19005420 2009
3
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. 61 6
16097008 2005
4
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. 61 57
12161821 2002
5
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. 57 61
9295067 1997
6
Heterogeneity of Dyggve-Melchior-Clausen dwarfism. 57
964990 1976
7
Osteochondrodystrophy (Morquio-Brailsford type); occurrence in three siblings. 57
13489517 1958
8
Multitasking Rab Proteins in Autophagy and Membrane Trafficking: A Focus on Rab33b. 61
31408960 2019
9
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. 61
28127940 2017
10
Anaesthesia and orphan disease: failed airway management in a case of Smith-McCort Dysplasia. 61
24141645 2013
11
A novel RAB33B mutation in Smith-McCort dysplasia. 61
23042644 2013
12
A 14-year-old girl with Smith-McCort dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. 61
22709503 2012
13
Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic. 61
18852472 2008
14
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. 61
16470731 2006
15
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia). 61
16206059 2005
16
Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs. 61
117710 1979

Variations for Smith-Mccort Dysplasia 1

ClinVar genetic disease variations for Smith-Mccort Dysplasia 1:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYM NM_001353215.2(DYM):c.1729-21351T>C SNV Pathogenic 3193 rs120074165 GRCh37: 18:46645236-46645236
GRCh38: 18:49118866-49118866
2 DYM NM_017653.5(DYM):c.621-2A>G SNV Pathogenic 198883 rs775414124 GRCh37: 18:46858378-46858378
GRCh38: 18:49332008-49332008
3 DYM NM_017653.5(DYM):c.259G>A (p.Glu87Lys) SNV Uncertain significance 3189 rs120074164 GRCh37: 18:46906063-46906063
GRCh38: 18:49379693-49379693
4 RAB33B NM_031296.3(RAB33B):c.*796_*797del Deletion Uncertain significance 347580 rs10604111 GRCh37: 4:140395057-140395058
GRCh38: 4:139473903-139473904
5 DYM NM_017653.5(DYM):c.980C>A (p.Ala327Asp) SNV Uncertain significance 326898 rs147724274 GRCh37: 18:46808512-46808512
GRCh38: 18:49282142-49282142
6 DYM NM_017653.5(DYM):c.-243C>T SNV Uncertain significance 326916 rs886053851 GRCh37: 18:46986957-46986957
GRCh38: 18:49460587-49460587
7 DYM NM_017653.5(DYM):c.-251G>T SNV Uncertain significance 326917 rs886053852 GRCh37: 18:46986965-46986965
GRCh38: 18:49460595-49460595
8 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-160G>A SNV Uncertain significance 347557 rs774087744 GRCh37: 4:140375190-140375190
GRCh38: 4:139454036-139454036
9 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-348G>C SNV Uncertain significance 347549 rs886059072 GRCh37: 4:140375002-140375002
GRCh38: 4:139453848-139453848
10 DYM NM_017653.5(DYM):c.920C>T (p.Ala307Val) SNV Uncertain significance 326900 rs200843715 GRCh37: 18:46812830-46812830
GRCh38: 18:49286460-49286460
11 DYM NM_017653.5(DYM):c.1344A>G (p.Gln448=) SNV Uncertain significance 194100 rs77902523 GRCh37: 18:46784771-46784771
GRCh38: 18:49258401-49258401
12 DYM NM_017653.5(DYM):c.297C>T (p.Phe99=) SNV Uncertain significance 326906 rs886053847 GRCh37: 18:46905061-46905061
GRCh38: 18:49378691-49378691
13 DYM NM_017653.5(DYM):c.-215G>A SNV Uncertain significance 326913 rs567710822 GRCh37: 18:46986929-46986929
GRCh38: 18:49460559-49460559
14 DYM , LOC100129878 NM_017653.5(DYM):c.*12T>C SNV Uncertain significance 326887 rs45452499 GRCh37: 18:46570413-46570413
GRCh38: 18:49044043-49044043
15 DYM NM_017653.5(DYM):c.1830C>T (p.Gly610=) SNV Uncertain significance 326890 rs370290857 GRCh37: 18:46623802-46623802
GRCh38: 18:49097432-49097432
16 DYM NM_017653.5(DYM):c.21A>T (p.Arg7Ser) SNV Uncertain significance 326909 rs765630940 GRCh37: 18:46956744-46956744
GRCh38: 18:49430374-49430374
17 DYM NM_017653.5(DYM):c.1778A>G (p.Gln593Arg) SNV Uncertain significance 284211 rs146000214 GRCh37: 18:46623854-46623854
GRCh38: 18:49097484-49097484
18 DYM NM_017653.5(DYM):c.1115T>C (p.Met372Thr) SNV Uncertain significance 326897 rs886053844 GRCh37: 18:46808377-46808377
GRCh38: 18:49282007-49282007
19 DYM NM_017653.5(DYM):c.961C>T (p.Pro321Ser) SNV Uncertain significance 326899 rs886053845 GRCh37: 18:46808531-46808531
GRCh38: 18:49282161-49282161
20 DYM NM_017653.5(DYM):c.1759T>C (p.Phe587Leu) SNV Uncertain significance 326892 rs151034190 GRCh37: 18:46623873-46623873
GRCh38: 18:49097503-49097503
21 DYM NM_017653.5(DYM):c.573A>T (p.Glu191Asp) SNV Uncertain significance 326902 rs370414289 GRCh37: 18:46860145-46860145
GRCh38: 18:49333775-49333775
22 DYM NM_017653.5(DYM):c.1552C>T (p.Leu518=) SNV Uncertain significance 283838 rs145279594 GRCh37: 18:46690066-46690066
GRCh38: 18:49163696-49163696
23 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-368C>T SNV Uncertain significance 347547 rs886059071 GRCh37: 4:140374982-140374982
GRCh38: 4:139453828-139453828
24 DYM NM_017653.5(DYM):c.-154G>T SNV Uncertain significance 326911 rs547563112 GRCh37: 18:46986868-46986868
GRCh38: 18:49460498-49460498
25 DYM NM_017653.5(DYM):c.-169G>A SNV Uncertain significance 326912 rs886053849 GRCh37: 18:46986883-46986883
GRCh38: 18:49460513-49460513
26 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-342T>C SNV Uncertain significance 347550 rs886059073 GRCh37: 4:140375008-140375008
GRCh38: 4:139453854-139453854
27 DYM , LOC100129878 NM_017653.5(DYM):c.*123G>A SNV Uncertain significance 326885 rs886053843 GRCh37: 18:46570302-46570302
GRCh38: 18:49043932-49043932
28 DYM NM_017653.5(DYM):c.-222G>A SNV Uncertain significance 326914 rs374894787 GRCh37: 18:46986936-46986936
GRCh38: 18:49460566-49460566
29 DYM NM_017653.5(DYM):c.1703G>A (p.Arg568Gln) SNV Uncertain significance 326894 rs138427861 GRCh37: 18:46645157-46645157
GRCh38: 18:49118787-49118787
30 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-163C>T SNV Uncertain significance 347556 rs886059076 GRCh37: 4:140375187-140375187
GRCh38: 4:139454033-139454033
31 DYM , LOC100129878 NM_017653.5(DYM):c.1888G>A (p.Val630Met) SNV Uncertain significance 326889 rs757286463 GRCh37: 18:46570547-46570547
GRCh38: 18:49044177-49044177
32 DYM NM_017653.5(DYM):c.1116G>A (p.Met372Ile) SNV Uncertain significance 326896 rs775476671 GRCh37: 18:46808376-46808376
GRCh38: 18:49282006-49282006
33 DYM NM_017653.5(DYM):c.1812G>A (p.Leu604=) SNV Uncertain significance 326891 rs201023000 GRCh37: 18:46623820-46623820
GRCh38: 18:49097450-49097450
34 DYM NM_017653.5(DYM):c.-238G>T SNV Uncertain significance 326915 rs886053850 GRCh37: 18:46986952-46986952
GRCh38: 18:49460582-49460582
35 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-193G>T SNV Uncertain significance 347553 rs886059075 GRCh37: 4:140375157-140375157
GRCh38: 4:139454003-139454003
36 DYM NM_017653.5(DYM):c.42T>G (p.Asn14Lys) SNV Uncertain significance 326908 rs768630165 GRCh37: 18:46956723-46956723
GRCh38: 18:49430353-49430353
37 DYM NM_017653.5(DYM):c.-294C>T SNV Uncertain significance 326918 rs369624199 GRCh37: 18:46987008-46987008
GRCh38: 18:49460638-49460638
38 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-363G>A SNV Uncertain significance 347548 rs535498698 GRCh37: 4:140374987-140374987
GRCh38: 4:139453833-139453833
39 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-255C>T SNV Uncertain significance 347551 rs886059074 GRCh37: 4:140375095-140375095
GRCh38: 4:139453941-139453941
40 RAB33B-AS1 , RAB33B NM_031296.2(RAB33B):c.-167A>C SNV Uncertain significance 347554 rs190790812 GRCh37: 4:140375183-140375183
GRCh38: 4:139454029-139454029
41 DYM NM_017653.5(DYM):c.321G>A (p.Leu107=) SNV Uncertain significance 326905 rs16950519 GRCh37: 18:46905037-46905037
GRCh38: 18:49378667-49378667
42 DYM NM_017653.5(DYM):c.1251+12T>C SNV Uncertain significance 326895 rs374105000 GRCh37: 18:46798536-46798536
GRCh38: 18:49272166-49272166
43 DYM , LOC100129878 NM_017653.5(DYM):c.1999G>T (p.Asp667Tyr) SNV Uncertain significance 326888 rs528865224 GRCh37: 18:46570436-46570436
GRCh38: 18:49044066-49044066
44 DYM NM_001353214.3(DYM):c.1626-8T>G SNV Uncertain significance 726259 rs374658638 GRCh37: 18:46690165-46690165
GRCh38: 18:49163795-49163795
45 DYM NM_017653.5(DYM):c.620+4T>G SNV Uncertain significance 287525 rs201652921 GRCh37: 18:46860094-46860094
GRCh38: 18:49333724-49333724
46 DYM NM_017653.5(DYM):c.831T>C (p.Ser277=) SNV Uncertain significance 326901 rs886053846 GRCh37: 18:46812919-46812919
GRCh38: 18:49286549-49286549
47 DYM NM_017653.5(DYM):c.-94G>C SNV Uncertain significance 326910 rs886053848 GRCh37: 18:46986808-46986808
GRCh38: 18:49460438-49460438
48 DYM , LOC100129878 NM_017653.5(DYM):c.*22G>A SNV Likely benign 326886 rs113500346 GRCh37: 18:46570403-46570403
GRCh38: 18:49044033-49044033
49 DYM NM_017653.5(DYM):c.1749G>C (p.Val583=) SNV Likely benign 326893 rs60818038 GRCh37: 18:46623883-46623883
GRCh38: 18:49097513-49097513
50 DYM NM_017653.5(DYM):c.421A>G (p.Ser141Gly) SNV Likely benign 326903 rs61729806 GRCh37: 18:46904937-46904937
GRCh38: 18:49378567-49378567

UniProtKB/Swiss-Prot genetic disease variations for Smith-Mccort Dysplasia 1:

72
# Symbol AA change Variation ID SNP ID
1 DYM p.Glu87Lys VAR_022740 rs120074164
2 DYM p.Cys542Arg VAR_065293 rs120074165

Expression for Smith-Mccort Dysplasia 1

Search GEO for disease gene expression data for Smith-Mccort Dysplasia 1.

Pathways for Smith-Mccort Dysplasia 1

Pathways related to Smith-Mccort Dysplasia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 STX5 RABGEF1 RABEP1 RAB33B GORASP1 GOLGA2
2
Show member pathways
12.08 RAB2A GORASP2 GORASP1 GOLGA2
3
Show member pathways
11.97 STX5 RABGEF1 RABEP1
4
Show member pathways
11.12 GORASP1 GOLGA2
5 10.97 STX5 RAB33B
6
Show member pathways
10.85 RABGEF1 RABEP1
7 10.47 RABGEF1 RABEP1 RAB33B

GO Terms for Smith-Mccort Dysplasia 1

Cellular components related to Smith-Mccort Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.18 STX5 RUFY3 RAB33B RAB2A GORASP2 GORASP1
2 Golgi membrane GO:0000139 9.73 STX5 RAB33B RAB2A GORASP2 GORASP1 GOLGA2
3 Golgi cisterna membrane GO:0032580 9.54 GOLGA8B GOLGA8A GOLGA2
4 cis-Golgi network GO:0005801 9.5 GOLGA8B GOLGA8A GOLGA2
5 Golgi cis cisterna GO:0000137 9.33 GOLGA8B GOLGA8A GOLGA2
6 Golgi apparatus GO:0005794 9.28 STX5 RAB33B RAB2A GORASP2 GORASP1 GOLGA8B
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.26 STX5 RAB2A GORASP1 GOLGA2

Biological processes related to Smith-Mccort Dysplasia 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.67 STX5 RABEP1 RAB2A
2 ER to Golgi vesicle-mediated transport GO:0006888 9.56 STX5 RAB2A GORASP1 GOLGA2
3 COPII vesicle coating GO:0048208 9.54 STX5 GORASP1 GOLGA2
4 spindle assembly GO:0051225 9.5 GOLGA8B GOLGA8A GOLGA2
5 positive regulation of axon extension GO:0045773 9.48 RUFY3 DBN1
6 regulation of Golgi organization GO:1903358 9.46 STX5 RAB33B
7 positive regulation of ubiquitin protein ligase activity GO:1904668 9.43 GORASP1 GOLGA2
8 protein transport GO:0015031 9.43 RABGEF1 RABEP1 RAB33B RAB2A GORASP1 GOLGA2
9 Golgi disassembly GO:0090166 9.4 STX5 GOLGA2
10 Golgi organization GO:0007030 9.17 RAB2A GORASP2 GORASP1 GOLGA8B GOLGA8A GOLGA2
11 establishment of protein localization to plasma membrane GO:0061951 9.16 GORASP2 GORASP1

Sources for Smith-Mccort Dysplasia 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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