SCPS
MCID: SCP001
MIFTS: 46

Sc Phocomelia Syndrome (SCPS)

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

Aliases & Classifications for Sc Phocomelia Syndrome

MalaCards integrated aliases for Sc Phocomelia Syndrome:

Name: Sc Phocomelia Syndrome 56 12 73 13 15 39
Sc Pseudothalidomide Syndrome 56 12 73
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 12
Roberts-Sc Phocomelia Syndrome 71
Scps 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
allelic to roberts syndrome


HPO:

31
sc phocomelia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sc Phocomelia Syndrome

UniProtKB/Swiss-Prot : 73 SC phocomelia syndrome: Has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into adulthood is common.

MalaCards based summary : Sc Phocomelia Syndrome, also known as sc pseudothalidomide syndrome, is related to roberts syndrome and phocomelia, and has symptoms including seizures An important gene associated with Sc Phocomelia Syndrome is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include bone, lung and kidney, and related phenotypes are clinodactyly and seizures

Disease Ontology : 12 An autosomal recessive disease that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has material basis in the mutation in the ESCO2 gene.

More information from OMIM: 269000

Related Diseases for Sc Phocomelia Syndrome

Diseases in the Phocomelia family:

Dk Phocomelia Syndrome Sc Phocomelia Syndrome

Diseases related to Sc Phocomelia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 roberts syndrome 30.0 SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
2 phocomelia 10.8
3 microcephaly 10.4
4 hemangioma 10.4
5 allergic encephalomyelitis 10.3
6 hydrocephalus 10.3
7 impotence 10.3
8 renal cell carcinoma, nonpapillary 10.2
9 helix syndrome 10.2
10 cryptococcosis 10.2
11 cleft palate, isolated 10.1
12 hypertelorism 10.1
13 fryns microphthalmia syndrome 10.1
14 autosomal recessive disease 10.1
15 microphthalmia 10.1
16 synostosis 10.1
17 46 xx gonadal dysgenesis 10.1
18 cranial nerve palsy 10.1
19 hypotrichosis 10.1
20 cavernous hemangioma 10.1
21 cleft lip 10.1
22 exophthalmos 10.1
23 chromosomal triplication 10.1
24 encephalocele 10.1
25 exencephaly 10.1
26 aneurysm 10.1
27 multicystic dysplastic kidney 10.1
28 alzheimer disease 10.0
29 attention deficit-hyperactivity disorder 10.0
30 schistosoma mansoni infection, susceptibility/ 10.0
31 cervical cancer 10.0
32 alveolar soft part sarcoma 10.0
33 major affective disorder 8 10.0
34 major affective disorder 9 10.0
35 chorioamnionitis 10.0
36 cardiac arrest 10.0
37 schistosomiasis 10.0
38 toxic shock syndrome 10.0
39 pulmonary tuberculosis 10.0
40 bipolar disorder 10.0
41 myopathy 10.0
42 clear cell renal cell carcinoma 10.0
43 severe combined immunodeficiency 10.0
44 neuroblastoma 10.0
45 chronic pain 10.0
46 tremor 10.0
47 streptococcal toxic-shock syndrome 10.0
48 wiedemann-steiner syndrome 9.8 SMC3 SMC1A
49 diaphragmatic hernia, congenital 9.5 SMC3 SMC1A NIPBL
50 cornelia de lange syndrome 1 9.4 RAD21 NIPBL

Graphical network of the top 20 diseases related to Sc Phocomelia Syndrome:



Diseases related to Sc Phocomelia Syndrome

Symptoms & Phenotypes for Sc Phocomelia Syndrome

Human phenotypes related to Sc Phocomelia Syndrome:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 31 HP:0030084
2 seizures 31 HP:0001250
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 micrognathia 31 HP:0000347
6 underdeveloped nasal alae 31 HP:0000430
7 intrauterine growth retardation 31 HP:0001511
8 microcephaly 31 HP:0000252
9 wormian bones 31 HP:0002645
10 posteriorly rotated ears 31 HP:0000358
11 cleft upper lip 31 HP:0000204
12 short thumb 31 HP:0009778
13 hip contracture 31 HP:0003273
14 blue sclerae 31 HP:0000592
15 sparse hair 31 HP:0008070
16 aortic valve stenosis 31 HP:0001650
17 phocomelia 31 HP:0009829
18 knee flexion contracture 31 HP:0006380
19 absent radius 31 HP:0003974
20 midface capillary hemangioma 31 HP:0007452
21 radial deviation of finger 31 HP:0009466
22 fair hair 31 HP:0002286
23 aplasia of the ulna 31 HP:0003982
24 premature separation of centromeric heterochromatin 31 HP:0003616

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
clinodactyly
small thumbs

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Skeletal Skull:
wormian bones

Skin Nails Hair Hair:
sparse hair
silvery-blond hair

Skin Nails Hair Skin:
midface capillary hemangioma

Skeletal Limbs:
knee contractures
absence of radius and ulna

Head And Neck Nose:
hypoplastic nasal alae

Head And Neck Eyes:
bluish sclerae

Neurologic Central Nervous System:
seizures
developmental delay

Head And Neck Face:
micrognathia

Head And Neck Head:
microcephaly

Head And Neck Ears:
posteriorly rotated ears
absent lobules

Head And Neck Mouth:
cleft lip

Laboratory Abnormalities:
premature separation of centromeric heterochromatin

Cardiovascular Heart:
aortic stenosis

Skeletal Pelvis:
hip contractures

Clinical features from OMIM:

269000

UMLS symptoms related to Sc Phocomelia Syndrome:


seizures

GenomeRNAi Phenotypes related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 9.13 CDCA5 SMC1A SMC3
2 Effect on mitosis GR00257-A-2 8.92 CDCA5 RAD21 SMC1A SMC3

MGI Mouse Phenotypes related to Sc Phocomelia Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 CDCA5 MAU2 NIPBL PDS5A SMC3
2 mortality/aging MP:0010768 9.23 CDCA5 ESCO2 MAU2 NIPBL PDS5A RAD21

Drugs & Therapeutics for Sc Phocomelia Syndrome

Search Clinical Trials , NIH Clinical Center for Sc Phocomelia Syndrome

Genetic Tests for Sc Phocomelia Syndrome

Anatomical Context for Sc Phocomelia Syndrome

MalaCards organs/tissues related to Sc Phocomelia Syndrome:

40
Bone, Lung, Kidney

Publications for Sc Phocomelia Syndrome

Articles related to Sc Phocomelia Syndrome:

(show all 48)
# Title Authors PMID Year
1
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. 61 56 6
3740099 1986
2
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). 61 56 6
495649 1979
3
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. 56 6
16380922 2005
4
History of C-patient with SC-Roberts/pseudothalidamide syndrome. 56 6
1642282 1992
5
A sibship with Roberts/SC phocomelia syndrome. 61 56
2240038 1990
6
Roberts'--SC phocomelia syndrome with cytogenetic findings. 61 56
7106776 1982
7
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality. 61 56
517578 1979
8
The SC phocomelia and the Roberts syndrome: nosologic aspects. 61 56
872834 1977
9
Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome). 61 56
5033248 1972
10
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. 56
20101700 2010
11
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 56
18411254 2008
12
Roberts Syndrome 6
20301332 2006
13
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. 6
15821733 2005
14
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. 56
3812580 1987
15
Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings. 56
7171776 1982
16
The tetraphocomelia -- cleft palate syndrome: description of a new case. 56
1176127 1975
17
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. 61
30590172 2019
18
Expanding the mutation and clinical spectrum of Roberts syndrome. 61
26710928 2016
19
Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. 61
24971102 2013
20
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome. 61
22044369 2011
21
Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases. 61
20625748 2010
22
Heterochromatin and the cohesion of sister chromatids. 61
19308703 2009
23
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 61
17273969 2007
24
Roberts syndrome, normal cell division, and normal intelligence. 61
12040206 2002
25
Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1). 61
12002154 2002
26
Roberts-SC phocomelia syndrome. 61
11450388 2001
27
[Roberts-SC phocomelia syndrome]. 61
11423730 2001
28
[Roberts-SC phocomelia syndrome]. 61
11057210 2000
29
Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia. 61
10422009 1999
30
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 61
9934984 1999
31
Tetra-amelia and splenogonadal fusion in Roberts syndrome. 61
9028456 1997
32
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? 61
9147883 1996
33
Picture of the month. Roberts-SC phocomelia syndrome. 61
8646318 1996
34
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. 61
8832138 1996
35
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. 61
7558058 1995
36
Roberts-SC phocomelia syndrome: a case with additional anomalies. 61
8004795 1994
37
Roberts-SC phocomelia syndrome in a baboon (Papio anubis). 61
1460857 1992
38
Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia. 61
1741870 1991
39
Roberts syndrome with normal cell division. 61
2012128 1991
40
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. 61
2658590 1989
41
Roberts-SC phocomelia syndrome with exencephaly. 61
2817778 1989
42
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. 61
3205861 1988
43
[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers]. 61
3057982 1988
44
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. 61
3788975 1986
45
[Roberts-SC phocomelia syndrome]. 61
3725603 1986
46
[The Roberts-SC phocomelia syndrome. Apropos of a case without cytogenetic changes and review of the literature]. 61
3006564 1985
47
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? 61
6517054 1984
48
A case of SC-phocomelia syndrome with nonrandom centromere separation. 61
7163280 1982

Variations for Sc Phocomelia Syndrome

ClinVar genetic disease variations for Sc Phocomelia Syndrome:

6 (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ESCO2 NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)indel Pathogenic 210961 rs797045565 8:27637723-27637723 8:27780206-27780206
2 ESCO2 NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)duplication Pathogenic 210962 rs797045566 8:27637735-27637736 8:27780218-27780219
3 ESCO2 NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)SNV Pathogenic 1735 rs80359868 8:27657175-27657175 8:27799658-27799658
4 ESCO2 NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)SNV Pathogenic 1736 rs80359849 8:27634330-27634330 8:27776813-27776813
5 ESCO2 NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)duplication Pathogenic 1737 rs1554554098 8:27634575-27634576 8:27777058-27777059
6 ESCO2 NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)duplication Pathogenic 1738 rs80359852 8:27634576-27634577 8:27777059-27777060
7 ESCO2 NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)SNV Pathogenic 1739 rs80359864 8:27649485-27649485 8:27791968-27791968
8 ESCO2 NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)SNV Pathogenic 1740 rs80359850 8:27634429-27634429 8:27776912-27776912
9 ESCO2 NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)insertion Pathogenic 21231 rs1554555716 8:27645499-27645500 8:27787982-27787983
10 ESCO2 NM_001017420.3(ESCO2):c.1263+1G>CSNV Pathogenic 21235 rs80359863 8:27646496-27646496 8:27788979-27788979
11 ESCO2 NM_001017420.3(ESCO2):c.1354-18G>ASNV Pathogenic 21236 rs80359865 8:27650167-27650167 8:27792650-27792650
12 ESCO2 NM_001017420.3(ESCO2):c.1457_1458AG[2] (p.Arg487fs)short repeat Pathogenic 21237 rs80359866 8:27650288-27650289 8:27792771-27792772
13 ESCO2 NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)duplication Pathogenic 21238 rs80359867 8:27657156-27657157 8:27799639-27799640
14 ESCO2 NM_001017420.3(ESCO2):c.1674-2A>GSNV Pathogenic 21239 rs80359869 8:27660821-27660821 8:27803304-27803304
15 ESCO2 NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)deletion Pathogenic 21241 rs80359844 8:27634076-27634077 8:27776559-27776560
16 ESCO2 NM_001017420.3(ESCO2):c.292_293GA[1] (p.Arg99fs)short repeat Pathogenic 21242 rs80359845 8:27634117-27634120 8:27776600-27776603
17 ESCO2 NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)deletion Pathogenic 21243 rs80359846 8:27634131-27634135 8:27776614-27776618
18 ESCO2 NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)deletion Pathogenic 21244 rs80359847 8:27634131-27634132 8:27776614-27776615
19 ESCO2 NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)duplication Pathogenic 21245 rs80359848 8:27634236-27634237 8:27776719-27776720
20 ESCO2 NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)deletion Pathogenic 21246 rs80359851 8:27634569-27634570 8:27777052-27777053
21 ESCO2 NM_001017420.3(ESCO2):c.760del (p.Thr254fs)deletion Pathogenic 21247 rs80359852 8:27634577-27634577 8:27777060-27777060
22 ESCO2 NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)deletion Pathogenic 21249 rs80359855 8:27634587-27634588 8:27777070-27777071
23 ESCO2 NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)deletion Pathogenic 21250 rs80359856 8:27637703-27637706 8:27780186-27780189
24 ESCO2 NM_001017420.3(ESCO2):c.877_878AG[1] (p.Arg293fs)short repeat Pathogenic 21251 rs80359857 8:27637706-27637707 8:27780189-27780190
25 ESCO2 NM_001017420.3(ESCO2):c.955+2_955+5deldeletion Pathogenic 21252 rs80359858 8:27637783-27637786 8:27780266-27780269
26 ESCO2 NM_001017420.3(ESCO2):c.1131+1G>ASNV Pathogenic 21233 rs80359861 8:27645520-27645520 8:27788003-27788003
27 ESCO2 NM_001017420.3(ESCO2):c.1132-7A>GSNV Pathogenic/Likely pathogenic 21234 rs80359862 8:27646357-27646357 8:27788840-27788840
28 ESCO2 NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)duplication Likely pathogenic 21232 rs80359859 8:27645492-27645493 8:27787975-27787976
29 ESCO2 NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)duplication Likely pathogenic 800869 8:27633937-27633938 8:27776420-27776421
30 ESCO2 NM_001017420.3(ESCO2):c.956-2A>GSNV Likely pathogenic 804409 8:27641515-27641515 8:27783998-27783998
31 ESCO2 NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)SNV Conflicting interpretations of pathogenicity 158573 rs146312522 8:27646407-27646407 8:27788890-27788890
32 ESCO2 NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)SNV Conflicting interpretations of pathogenicity 196298 rs201989984 8:27633972-27633972 8:27776455-27776455
33 ESCO2 NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)SNV Conflicting interpretations of pathogenicity 362744 rs73568217 8:27657207-27657207 8:27799690-27799690
34 ESCO2 NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)SNV Conflicting interpretations of pathogenicity 362743 rs149917909 8:27657108-27657108 8:27799591-27799591
35 ESCO2 NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)SNV Conflicting interpretations of pathogenicity 362738 rs57479434 8:27645464-27645464 8:27787947-27787947
36 ESCO2 NM_001017420.3(ESCO2):c.1013+7A>GSNV Conflicting interpretations of pathogenicity 362737 rs149494070 8:27641581-27641581 8:27784064-27784064
37 ESCO2 NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)SNV Conflicting interpretations of pathogenicity 362745 rs115144373 8:27660884-27660884 8:27803367-27803367
38 ESCO2 NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)SNV Conflicting interpretations of pathogenicity 362732 rs199653554 8:27634150-27634150 8:27776633-27776633
39 ESCO2 NM_001017420.3(ESCO2):c.447A>G (p.Gln149=)SNV Uncertain significance 362733 rs886062858 8:27634272-27634272 8:27776755-27776755
40 ESCO2 NM_001017420.3(ESCO2):c.*172G>CSNV Uncertain significance 362760 rs539459940 8:27661127-27661127 8:27803610-27803610
41 ESCO2 NM_001017420.3(ESCO2):c.*222T>CSNV Uncertain significance 362761 rs886062868 8:27661177-27661177 8:27803660-27803660
42 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[14]short repeat Uncertain significance 362753 rs56062620 8:27661066-27661067 8:27803549-27803550
43 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[7]short repeat Uncertain significance 362754 rs56062620 8:27661067-27661070 8:27803550-27803553
44 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[11]short repeat Uncertain significance 362751 rs56062620 8:27661066-27661067 8:27803549-27803550
45 ESCO2 NM_001017420.3(ESCO2):c.*481dupduplication Uncertain significance 362765 rs111395487 8:27661421-27661422 8:27803904-27803905
46 ESCO2 NM_001017420.3(ESCO2):c.-33C>TSNV Uncertain significance 362729 rs886062856 8:27632108-27632108 8:27774591-27774591
47 ESCO2 NM_001017420.3(ESCO2):c.*155T>GSNV Uncertain significance 362759 rs886062867 8:27661110-27661110 8:27803593-27803593
48 ESCO2 NM_001017420.3(ESCO2):c.*76_*79dupduplication Uncertain significance 362748 rs139887923 8:27661030-27661031 8:27803513-27803514
49 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[12]short repeat Uncertain significance 362752 rs56062620 8:27661066-27661067 8:27803549-27803550
50 ESCO2 NM_001017420.3(ESCO2):c.*261T>ASNV Uncertain significance 362762 rs886062869 8:27661216-27661216 8:27803699-27803699

Expression for Sc Phocomelia Syndrome

Search GEO for disease gene expression data for Sc Phocomelia Syndrome.

Pathways for Sc Phocomelia Syndrome

GO Terms for Sc Phocomelia Syndrome

Cellular components related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
2 nucleoplasm GO:0005654 10.02 SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
3 chromosome, centromeric region GO:0000775 9.65 SMC3 SMC1A RAD21 PDS5A CDCA5
4 nuclear matrix GO:0016363 9.63 SMC3 SMC1A RAD21
5 chromosome GO:0005694 9.61 SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
6 condensed nuclear chromosome GO:0000794 9.51 SMC1A RAD21
7 meiotic cohesin complex GO:0030893 9.5 SMC3 SMC1A RAD21
8 mitotic spindle pole GO:0097431 9.49 SMC3 SMC1A
9 cohesin complex GO:0008278 9.46 SMC3 SMC1A RAD21 CDCA5
10 Scc2-Scc4 cohesin loading complex GO:0090694 9.43 NIPBL MAU2
11 SMC loading complex GO:0032116 9.4 NIPBL MAU2
12 chromatin GO:0000785 9.23 SMC3 RAD21 PDS5A NIPBL MAU2 ESCO2

Biological processes related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.86 SMC3 SMC1A RAD21 NIPBL
2 DNA repair GO:0006281 9.81 SMC3 SMC1A RAD21 PDS5A
3 cell division GO:0051301 9.73 SMC3 SMC1A RAD21 PDS5A MAU2 CDCA5
4 meiotic cell cycle GO:0051321 9.7 SMC3 SMC1A RAD21
5 chromosome segregation GO:0007059 9.67 RAD21 MAU2 ESCO2
6 stem cell population maintenance GO:0019827 9.65 SMC3 SMC1A NIPBL
7 double-strand break repair GO:0006302 9.62 RAD21 NIPBL ESCO2 CDCA5
8 cell cycle GO:0007049 9.61 SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
9 chromosome organization GO:0051276 9.58 SMC3 SMC1A
10 regulation of mitotic spindle assembly GO:1901673 9.57 SMC3 SMC1A
11 mitotic chromosome condensation GO:0007076 9.55 NIPBL CDCA5
12 sister chromatid cohesion GO:0007062 9.55 SMC3 SMC1A RAD21 ESCO2 ESCO1
13 protein localization to chromatin GO:0071168 9.54 RAD21 ESCO2
14 regulation of DNA replication GO:0006275 9.54 SMC3 ESCO2 ESCO1
15 maintenance of mitotic sister chromatid cohesion GO:0034088 9.46 NIPBL MAU2
16 post-translational protein acetylation GO:0034421 9.43 ESCO2 ESCO1
17 cohesin loading GO:0071921 9.4 NIPBL MAU2
18 mitotic sister chromatid cohesion GO:0007064 9.02 SMC1A PDS5A NIPBL MAU2 CDCA5

Molecular functions related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.35 SMC3 SMC1A RAD21 NIPBL CDCA5
2 acetyltransferase activity GO:0016407 9.16 ESCO2 ESCO1
3 mediator complex binding GO:0036033 8.8 SMC3 SMC1A NIPBL

Sources for Sc Phocomelia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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