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SCPS
MCID: SCP001
MIFTS: 41

Sc Phocomelia Syndrome (SCPS)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Sc Phocomelia Syndrome

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MalaCards integrated aliases for Sc Phocomelia Syndrome:

Name: Sc Phocomelia Syndrome 57 12 74 13 15 40
Sc Pseudothalidomide Syndrome 57 12 74
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 12
Roberts-Sc Phocomelia Syndrome 72
Scps 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to roberts syndrome ()


HPO:

32
sc phocomelia syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050536
OMIM 57 269000
MedGen 42 C0392475
UMLS 72 C0392475
Sources

Summaries for Sc Phocomelia Syndrome

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UniProtKB/Swiss-Prot : 74 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 Cell cycle_Spindle assembly and chromosome separation. Affiliated tissues include bone and lung, 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
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Related Diseases for Sc Phocomelia Syndrome

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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 all 50)
# Related Disease Score Top Affiliating Genes
1 roberts syndrome 32.4 SMC3 NIPBL ESCO2
2 phocomelia 31.2 ESCO2 CCDC25
3 hemangioma 10.4
4 microcephaly 10.4
5 allergic encephalomyelitis 10.3
6 hydrocephalus 10.3
7 congenital hydrocephalus 10.3
8 impotence 10.3
9 renal cell carcinoma, nonpapillary 10.2
10 helix syndrome 10.2
11 cryptococcosis 10.2
12 cleft palate, isolated 10.1
13 hypertelorism 10.1
14 fryns microphthalmia syndrome 10.1
15 autosomal recessive disease 10.1
16 microphthalmia 10.1
17 synostosis 10.1
18 46 xx gonadal dysgenesis 10.1
19 cranial nerve palsy 10.1
20 hypotrichosis 10.1
21 cavernous hemangioma 10.1
22 cleft lip 10.1
23 exophthalmos 10.1
24 chromosomal triplication 10.1
25 encephalocele 10.1
26 exencephaly 10.1
27 aneurysm 10.1
28 multicystic dysplastic kidney 10.1
29 alzheimer disease 10.0
30 attention deficit-hyperactivity disorder 10.0
31 schistosoma mansoni infection, susceptibility/ 10.0
32 neuroblastoma 1 10.0
33 cervical cancer 10.0
34 alveolar soft part sarcoma 10.0
35 major affective disorder 8 10.0
36 major affective disorder 9 10.0
37 chorioamnionitis 10.0
38 cardiac arrest 10.0
39 schistosomiasis 10.0
40 toxic shock syndrome 10.0
41 pulmonary tuberculosis 10.0
42 bipolar disorder 10.0
43 myopathy 10.0
44 clear cell renal cell carcinoma 10.0
45 severe combined immunodeficiency 10.0
46 chronic pain 10.0
47 tremor 10.0
48 streptococcal toxic-shock syndrome 10.0
49 wiedemann-steiner syndrome 9.4 SMC3 SMC1A
50 cornelia de lange syndrome 8.5 SMC3 SMC1A NIPBL ESCO2

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



Diseases related to Sc Phocomelia Syndrome
Sources

Symptoms & Phenotypes for Sc Phocomelia Syndrome

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Human phenotypes related to Sc Phocomelia Syndrome:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 micrognathia 32 HP:0000347
7 wormian bones 32 HP:0002645
8 intrauterine growth retardation 32 HP:0001511
9 underdeveloped nasal alae 32 HP:0000430
10 cleft upper lip 32 HP:0000204
11 short thumb 32 HP:0009778
12 hip contracture 32 HP:0003273
13 blue sclerae 32 HP:0000592
14 sparse hair 32 HP:0008070
15 aortic valve stenosis 32 HP:0001650
16 phocomelia 32 HP:0009829
17 posteriorly rotated ears 32 HP:0000358
18 knee flexion contracture 32 HP:0006380
19 absent radius 32 HP:0003974
20 midface capillary hemangioma 32 HP:0007452
21 radial deviation of finger 32 HP:0009466
22 fair hair 32 HP:0002286
23 aplasia of the ulna 32 HP:0003982
24 premature separation of centromeric heterochromatin 32 HP:0003616

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
small thumbs

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
posteriorly rotated ears
absent lobules

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

Growth Height:
short stature

Skeletal Skull:
wormian bones

Skin Nails Hair Hair:
sparse hair
silvery-blond hair

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
Sources

Drugs & Therapeutics for Sc Phocomelia Syndrome

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Search Clinical Trials , NIH Clinical Center for Sc Phocomelia Syndrome

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Genetic Tests for Sc Phocomelia Syndrome

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Anatomical Context for Sc Phocomelia Syndrome

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MalaCards organs/tissues related to Sc Phocomelia Syndrome:

41
Bone, Lung
Sources

Publications for Sc Phocomelia Syndrome

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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. 38 8 71
3740099 1986
2
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). 38 8 71
495649 1979
3
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. 8 71
16380922 2005
4
History of C-patient with SC-Roberts/pseudothalidamide syndrome. 8 71
1642282 1992
5
A sibship with Roberts/SC phocomelia syndrome. 38 8
2240038 1990
6
Roberts'--SC phocomelia syndrome with cytogenetic findings. 38 8
7106776 1982
7
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality. 38 8
517578 1979
8
The SC phocomelia and the Roberts syndrome: nosologic aspects. 38 8
872834 1977
9
Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome). 38 8
5033248 1972
10
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. 8
20101700 2010
11
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 8
18411254 2008
12
Roberts Syndrome 71
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. 71
15821733 2005
14
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. 8
3812580 1987
15
Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings. 8
7171776 1982
16
The tetraphocomelia -- cleft palate syndrome: description of a new case. 8
1176127 1975
17
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. 38
30590172 2018
18
Expanding the mutation and clinical spectrum of Roberts syndrome. 38
26710928 2016
19
Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. 38
24971102 2013
20
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome. 38
22044369 2011
21
Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases. 38
20625748 2010
22
Heterochromatin and the cohesion of sister chromatids. 38
19308703 2009
23
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 38
17273969 2007
24
Roberts syndrome, normal cell division, and normal intelligence. 38
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). 38
12002154 2002
26
Roberts-SC phocomelia syndrome. 38
11450388 2001
27
[Roberts-SC phocomelia syndrome]. 38
11423730 2001
28
[Roberts-SC phocomelia syndrome]. 38
11057210 2000
29
Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia. 38
10422009 1999
30
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 38
9934984 1999
31
Tetra-amelia and splenogonadal fusion in Roberts syndrome. 38
9028456 1997
32
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? 38
9147883 1996
33
Picture of the month. Roberts-SC phocomelia syndrome. 38
8646318 1996
34
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. 38
8832138 1996
35
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. 38
7558058 1995
36
Roberts-SC phocomelia syndrome: a case with additional anomalies. 38
8004795 1994
37
Roberts-SC phocomelia syndrome in a baboon (Papio anubis). 38
1460857 1992
38
Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia. 38
1741870 1991
39
Roberts syndrome with normal cell division. 38
2012128 1991
40
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. 38
2658590 1989
41
Roberts-SC phocomelia syndrome with exencephaly. 38
2817778 1989
42
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. 38
3205861 1988
43
[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers]. 38
3057982 1988
44
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. 38
3788975 1986
45
[Roberts-SC phocomelia syndrome]. 38
3725603 1986
46
[The Roberts-SC phocomelia syndrome. Apropos of a case without cytogenetic changes and review of the literature]. 38
3006564 1985
47
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? 38
6517054 1984
48
A case of SC-phocomelia syndrome with nonrandom centromere separation. 38
7163280 1982
Sources

Variations for Sc Phocomelia Syndrome

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ClinVar genetic disease variations for Sc Phocomelia Syndrome:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ESCO2 NM_001017420.3(ESCO2): c.1615T> G (p.Trp539Gly) single nucleotide variant Pathogenic rs80359868 8:27657175-27657175 8:27799658-27799658
2 ESCO2 NM_001017420.3(ESCO2): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs80359849 8:27634330-27634330 8:27776813-27776813
3 ESCO2 NM_001017420.3(ESCO2): c.751dup (p.Glu251fs) duplication Pathogenic rs1554554098 8:27634576-27634576 8:27777059-27777059
4 ESCO2 NM_001017420.3(ESCO2): c.760dup (p.Thr254fs) duplication Pathogenic rs80359852 8:27634585-27634585 8:27777068-27777068
5 ESCO2 NM_001017420.3(ESCO2): c.1269G> A (p.Trp423Ter) single nucleotide variant Pathogenic rs80359864 8:27649485-27649485 8:27791968-27791968
6 ESCO2 NM_001017420.3(ESCO2): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs80359850 8:27634429-27634429 8:27776912-27776912
7 ESCO2 NM_001017420.3(ESCO2): c.1111_1112insG (p.Thr371fs) insertion Pathogenic rs1554555716 8:27645499-27645500 8:27787982-27787983
8 ESCO2 NM_001017420.3(ESCO2): c.252_253del (p.Ser85fs) deletion Pathogenic rs80359844 8:27634077-27634078 8:27776560-27776561
9 ESCO2 NM_001017420.3(ESCO2): c.292_293GA[1] (p.Arg99fs) short repeat Pathogenic rs80359845 8:27634119-27634122 8:27776602-27776605
10 ESCO2 NM_001017420.3(ESCO2): c.307_311del (p.Lys103fs) deletion Pathogenic rs80359846 8:27634132-27634136 8:27776615-27776619
11 ESCO2 NM_001017420.3(ESCO2): c.308_309del (p.Lys103fs) deletion Pathogenic rs80359847 8:27634133-27634134 8:27776616-27776617
12 ESCO2 NM_001017420.3(ESCO2): c.417dup (p.Pro140fs) duplication Pathogenic rs80359848 8:27634242-27634242 8:27776725-27776725
13 ESCO2 NM_001017420.3(ESCO2): c.745_746del (p.Val249fs) deletion Pathogenic rs80359851 8:27634570-27634571 8:27777053-27777054
14 ESCO2 NM_001017420.3(ESCO2): c.760del (p.Thr254fs) deletion Pathogenic rs80359852 8:27634585-27634585 8:27777068-27777068
15 ESCO2 NM_001017420.3(ESCO2): c.764_765del (p.Phe255fs) deletion Pathogenic rs80359855 8:27634589-27634590 8:27777072-27777073
16 ESCO2 NM_001017420.3(ESCO2): c.876_879del (p.Asp292fs) deletion Pathogenic rs80359856 8:27637704-27637707 8:27780187-27780190
17 ESCO2 NM_001017420.3(ESCO2): c.877_878AG[1] (p.Arg293fs) short repeat Pathogenic rs80359857 8:27637708-27637709 8:27780191-27780192
18 ESCO2 NM_001017420.3(ESCO2): c.955+2_955+5del deletion Pathogenic rs80359858 8:27637786-27637789 8:27780269-27780272
19 ESCO2 NM_001017420.3(ESCO2): c.1263+1G> C single nucleotide variant Pathogenic rs80359863 8:27646496-27646496 8:27788979-27788979
20 ESCO2 NM_001017420.3(ESCO2): c.1354-18G> A single nucleotide variant Pathogenic rs80359865 8:27650167-27650167 8:27792650-27792650
21 ESCO2 NM_001017420.3(ESCO2): c.1457_1458AG[2] (p.Arg487fs) short repeat Pathogenic rs80359866 8:27650292-27650293 8:27792775-27792776
22 ESCO2 NM_001017420.3(ESCO2): c.1597dup (p.Cys533fs) duplication Pathogenic rs80359867 8:27657157-27657157 8:27799640-27799640
23 ESCO2 NM_001017420.3(ESCO2): c.1674-2A> G single nucleotide variant Pathogenic rs80359869 8:27660821-27660821 8:27803304-27803304
24 ESCO2 NM_001017420.3(ESCO2): c.1131+1G> A single nucleotide variant Pathogenic rs80359861 8:27645520-27645520 8:27788003-27788003
25 ESCO2 NM_001017420.3(ESCO2): c.894delinsTTTTAT (p.Glu298fs) indel Pathogenic rs797045565 8:27637723-27637723 8:27780206-27780206
26 ESCO2 NM_001017420.3(ESCO2): c.911dup (p.Asn304fs) duplication Pathogenic rs797045566 8:27637740-27637740 8:27780223-27780223
27 ESCO2 NM_001017420.3(ESCO2): c.1132-7A> G single nucleotide variant Pathogenic/Likely pathogenic rs80359862 8:27646357-27646357 8:27788840-27788840
28 ESCO2 NM_001017420.3(ESCO2): c.1175G> A (p.Cys392Tyr) single nucleotide variant Likely pathogenic rs146312522 8:27646407-27646407 8:27788890-27788890
29 ESCO2 NM_001017420.3(ESCO2): c.1111dup (p.Thr371fs) duplication Likely pathogenic rs80359859 8:27645499-27645499 8:27787982-27787982
30 ESCO2 NM_001017420.3(ESCO2): c.147C> G (p.Cys49Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201989984 8:27633972-27633972 8:27776455-27776455
31 ESCO2 NM_001017420.3(ESCO2): c.1647T> C (p.Ile549=) single nucleotide variant Conflicting interpretations of pathogenicity rs73568217 8:27657207-27657207 8:27799690-27799690
32 ESCO2 NM_001017420.3(ESCO2): c.1076A> C (p.Gln359Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs57479434 8:27645464-27645464 8:27787947-27787947
33 ESCO2 NM_001017420.3(ESCO2): c.*172G> C single nucleotide variant Uncertain significance rs539459940 8:27661127-27661127 8:27803610-27803610
34 ESCO2 NM_001017420.3(ESCO2): c.*222T> C single nucleotide variant Uncertain significance rs886062868 8:27661177-27661177 8:27803660-27803660
35 ESCO2 NM_001017420.3(ESCO2): c.*155T> G single nucleotide variant Uncertain significance rs886062867 8:27661110-27661110 8:27803593-27803593
36 ESCO2 NM_001017420.3(ESCO2): c.*481dup duplication Uncertain significance rs111395487 8:27661436-27661436 8:27803919-27803919
37 ESCO2 NM_001017420.3(ESCO2): c.-33C> T single nucleotide variant Uncertain significance rs886062856 8:27632108-27632108 8:27774591-27774591
38 ESCO2 NM_001017420.3(ESCO2): c.325T> C (p.Cys109Arg) single nucleotide variant Uncertain significance rs199653554 8:27634150-27634150 8:27776633-27776633
39 ESCO2 NM_001017420.3(ESCO2): c.447A> G (p.Gln149=) single nucleotide variant Uncertain significance rs886062858 8:27634272-27634272 8:27776755-27776755
40 ESCO2 NM_001017420.3(ESCO2): c.1013+7A> G single nucleotide variant Uncertain significance rs149494070 8:27641581-27641581 8:27784064-27784064
41 ESCO2 NM_001017420.3(ESCO2): c.1735C> A (p.Pro579Thr) single nucleotide variant Uncertain significance rs115144373 8:27660884-27660884 8:27803367-27803367
42 ESCO2 NM_001017420.3(ESCO2): c.*112_*113AC[14] short repeat Uncertain significance rs56062620 8:27661075-27661084 8:27803558-27803567
43 ESCO2 NM_001017420.3(ESCO2): c.*112_*113AC[7] short repeat Uncertain significance rs56062620 8:27661081-27661084 8:27803564-27803567
44 ESCO2 NM_001017420.3(ESCO2): c.*112_*113AC[11] short repeat Uncertain significance rs56062620 8:27661081-27661084 8:27803564-27803567
45 ESCO2 NM_001017420.3(ESCO2): c.*34G> A single nucleotide variant Uncertain significance rs182715200 8:27660989-27660989 8:27803472-27803472
46 ESCO2 NM_001017420.3(ESCO2): c.*73_*76del deletion Uncertain significance rs533417099 8:27661028-27661031 8:27803511-27803514
47 ESCO2 NM_001017420.3(ESCO2): c.*130delinsACACACACACA indel Uncertain significance rs869163244 8:27661085-27661085 8:27803568-27803568
48 ESCO2 NM_001017420.3(ESCO2): c.*503_*504GT[1] short repeat Uncertain significance rs374900624 8:27661460-27661461 8:27803943-27803944
49 ESCO2 NM_001017420.3(ESCO2): c.*534C> T single nucleotide variant Uncertain significance rs886062871 8:27661489-27661489 8:27803972-27803972
50 ESCO2 NM_001017420.3(ESCO2): c.*982T> C single nucleotide variant Uncertain significance rs886062872 8:27661937-27661937 8:27804420-27804420
Sources

Expression for Sc Phocomelia Syndrome

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

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Pathways related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 66
Show member pathways
 12.42 SMC3 SMC1A NIPBL ESCO2
2
Cell cycle_Spindle assembly and chromosome separation 22
11.3 SMC3 SMC1A
3
Retinoblastoma (RB) in Cancer 1
11.2 SMC3 SMC1A
4
ATM Pathway 64
Show member pathways
 11.1 SMC3 SMC1A
5
Mitotic Telophase/Cytokinesis 66
Show member pathways
 10.21 SMC3 SMC1A NIPBL
Sources

GO Terms for Sc Phocomelia Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.46 SMC3 SMC1A NIPBL ESCO2
2 chromatin GO:0000785 9.43 SMC3 NIPBL ESCO2
3 nuclear matrix GO:0016363 9.4 SMC3 SMC1A
4 chromosome, centromeric region GO:0000775 9.37 SMC3 SMC1A
5 mitotic spindle pole GO:0097431 9.32 SMC3 SMC1A
6 meiotic cohesin complex GO:0030893 8.96 SMC3 SMC1A
7 cohesin complex GO:0008278 8.62 SMC3 SMC1A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.65 SMC3 SMC1A NIPBL
2 cell cycle GO:0007049 9.62 SMC3 SMC1A NIPBL ESCO2
3 meiotic cell cycle GO:0051321 9.49 SMC3 SMC1A
4 double-strand break repair GO:0006302 9.46 NIPBL ESCO2
5 chromosome organization GO:0051276 9.43 SMC3 SMC1A
6 regulation of mitotic spindle assembly GO:1901673 9.4 SMC3 SMC1A
7 regulation of DNA replication GO:0006275 9.37 SMC3 ESCO2
8 mitotic sister chromatid cohesion GO:0007064 9.26 SMC1A NIPBL
9 negative regulation of DNA endoreduplication GO:0032876 9.16 SMC3 SMC1A
10 stem cell population maintenance GO:0019827 9.13 SMC3 SMC1A NIPBL
11 sister chromatid cohesion GO:0007062 8.8 SMC3 SMC1A ESCO2

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 9.13 SMC3 SMC1A NIPBL
2 mediator complex binding GO:0036033 8.8 SMC3 SMC1A NIPBL
Sources

Sources for Sc Phocomelia Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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