MCID: DBW001
MIFTS: 48

Dubowitz Syndrome

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dubowitz Syndrome

MalaCards integrated aliases for Dubowitz Syndrome:

Name: Dubowitz Syndrome 57 12 74 20 58 44 15 71
Dubowitz's Syndrome 12 29
Intrauterine Growth Retardation, Short Stature, Microcephaly, Mild Mental Retardation with Behavior Problems, Eczema, and Unusual and Distinctive Faci 20
Dwarfism-Eczema-Peculiar Facies Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
dubowitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM®:

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


HPO:

31
dubowitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Dubowitz Syndrome

GARD : 20 Dubowitz syndrome is a very rare genetic and developmental disorder with a broad range of signs and symptoms. The typical findings of Dubowitz syndrome include growth failure/short stature, characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short eyelids, increased distance between eyes (hypertelorism) broad and flat nasal bridge with a prominent and rounded nasal tip, smaller than normal head (microcephaly), intellectual disability, and eczema, especially on the face and behind the knees. Other common findings are behavioral disorders (hyperactivity, and/or autistic features), speech alterations, scanty or absent hair, foot abnormalities, delayed bone age, bone defects of the lower part of the spine (sacrum and coccyx), testicles that are still not located in the scrotum (cryptorchidism), memory and / or learning problems. There may be an increased risk of having cancer such as leukemia, or lymphoma. The diagnosis is made based on the symptoms (specially the facial features), but there is no specific laboratory test. The cause is still unknown, but, some people who are diagnosed with the syndrome may have variants (mutations) in the NSUN2 and LIG4 genes, or have loss or gain of microscopic material in some chromosomes (chromosomal microdeletions or microduplications). Although there is no specific treatment or cure, there are ways to control the symptoms. Often a team of doctors is needed to determine the treatment options for each person.

MalaCards based summary : Dubowitz Syndrome, also known as dubowitz's syndrome, is related to isolated growth hormone deficiency, type ia and microcephaly. An important gene associated with Dubowitz Syndrome is NSUN2 (NOP2/Sun RNA Methyltransferase 2), and among its related pathways/superpathways are DNA Damage and DNA Double Strand Break Response. Affiliated tissues include eye, bone and heart, and related phenotypes are intellectual disability and hypertelorism

Disease Ontology : 12 A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.

Wikipedia : 74 Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a... more...

More information from OMIM: 223370

Related Diseases for Dubowitz Syndrome

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 30.1 XRCC4 OBSL1 CUL7
2 microcephaly 10.6
3 dermatitis 10.5
4 autosomal recessive disease 10.5
5 blepharophimosis 10.4
6 ptosis 10.3
7 spinocerebellar ataxia type 1 with axonal neuropathy 10.3 XRCC4 NHEJ1
8 congenital nervous system abnormality 10.2 XRCC4 NHEJ1 LIG4
9 valproate embryopathy 10.2 VAX2 BUD23
10 cleft palate, isolated 10.2
11 telecanthus 10.2
12 bare lymphocyte syndrome, type ii 10.2 NHEJ1 LIG4 DCLRE1C
13 dwarfism 10.2
14 spinal muscular atrophy type 0 10.2 SMN2 SMN1
15 purine nucleoside phosphorylase deficiency 10.2 NHEJ1 DCLRE1C
16 bowen-conradi syndrome 10.2 RNMT NSUN5 BUD23
17 spinal muscular atrophy, x-linked 2 10.1 SMN2 SMN1
18 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.1 SMN2 SMN1
19 autosomal recessive distal hereditary motor neuronopathy 10.1 SMN2 SMN1
20 chronic inflammatory demyelinating polyneuritis 10.1 SMN2 SMN1
21 chromosome 2q35 duplication syndrome 10.1
22 cryptorchidism, unilateral or bilateral 10.1
23 dermatitis, atopic 10.1
24 fetal alcohol syndrome 10.1
25 alcohol-related birth defect 10.1
26 anterior horn cell disease 10.1 SMN2 SMN1
27 proximal spinal muscular atrophy 10.1 SMN2 SMN1
28 spinal muscular atrophy, distal, autosomal recessive, 4 10.1 SMN2 SMN1
29 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 SMN2 SMN1
30 reticular dysgenesis 10.0 NHEJ1 DCLRE1C
31 bloom syndrome 10.0
32 scoliosis 10.0
33 growth hormone deficiency 10.0
34 spinal muscular atrophy with progressive myoclonic epilepsy 10.0 SMN2 SMN1
35 progressive muscular atrophy 10.0 SMN2 SMN1
36 seckel syndrome 10.0 XRCC4 PRKDC NHEJ1 LIG4
37 cardiomyopathy, familial restrictive, 1 10.0 NSUN7 NSUN5 NSUN2 BUD23
38 williams-beuren syndrome 9.9 NSUN7 NSUN5 NSUN2 BUD23
39 nijmegen breakage syndrome 9.9 PRKDC NHEJ1 LIG4 DCLRE1C
40 anorectal anomalies 9.9
41 arteries, anomalies of 9.9
42 epicanthus 9.9
43 hypertelorism 9.9
44 hyper-ige recurrent infection syndrome 1, autosomal dominant 9.9
45 pectus excavatum 9.9
46 pilonidal sinus 9.9
47 neural tube defects 9.9
48 strabismus 9.9
49 tetralogy of fallot 9.9
50 arachnoid cysts, intracranial 9.9

Graphical network of the top 20 diseases related to Dubowitz Syndrome:



Diseases related to Dubowitz Syndrome

Symptoms & Phenotypes for Dubowitz Syndrome

Human phenotypes related to Dubowitz Syndrome:

58 31 (show top 50) (show all 116)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
8 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
9 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
10 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
11 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
12 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
13 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
14 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
15 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
16 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
17 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
18 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
19 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
20 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
21 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
22 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
23 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
24 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
25 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
26 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
27 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
28 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
29 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
30 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
31 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
32 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
33 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
34 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
35 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
36 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
37 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
38 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055
39 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
40 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
41 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
42 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
43 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
44 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
45 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
46 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
47 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
48 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
49 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
50 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
strabismus
iris coloboma
microphthalmia
telecanthus
more
Skeletal Feet:
pes planus
two-three toe syndactyly

Abdomen Gastrointestinal:
gastroesophageal reflux
chronic diarrhea
poor feeding
frequent vomiting

Growth Other:
intrauterine growth retardation
postnatal growth failure

Head And Neck Ears:
low-set ears
otitis media
dysplastic ears
prominent ears

Neoplasia:
lymphoma
neuroblastoma
aplastic anemia
acute lymphatic leukemia

Immunology:
recurrent infections
iga deficiency
hypogammaglobulinemia

Head And Neck Nose:
broad nasal tip
broad nasal bridge

Head And Neck Mouth:
velopharyngeal insufficiency
high-arched palate
submucous cleft palate

Skeletal:
delayed bone age

Head And Neck Teeth:
caries
missing teeth
delayed eruption

Growth Weight:
average birth weight 2.3kg

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Head:
microcephaly
average birth head circumference 30.6cm

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
facial asymmetry
small face
elongation of face with age
shallow supraorbital ridge
more
Skin Nails Hair Hair:
sparse scalp hair

Skin Nails Hair Skin:
sacral dimple
eczema (face and flexural areas)

Neurologic Central Nervous System:
hyperactivity
hypotonia
speech delay
mental retardation, moderate to severe (10-15% of patients)

Neurologic Behavioral Psychiatric Manifestations:
short attention span

Skeletal Hands:
fifth finger clinodactyly

Voice:
high-pitched voice

Growth Height:
average birth length 44cm

Clinical features from OMIM®:

223370 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 CUL7
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 CUL7 LIG4 PRKDC
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 CUL7 DCLRE1C PRKDC XRCC4
4 Increased homologous recombination repair frequency GR00151-A-1 8.96 LIG4
5 Increased homologous recombination repair frequency GR00151-A-2 8.96 LIG4

MGI Mouse Phenotypes related to Dubowitz Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 CUL7 DCLRE1C LIG4 NHEJ1 NSUN2 NSUN7
2 growth/size/body region MP:0005378 9.8 BUD23 CUL7 DCLRE1C LIG4 NHEJ1 NSUN2
3 mortality/aging MP:0010768 9.44 BUD23 CUL7 LIG4 NHEJ1 NSUN2 PRKDC

Drugs & Therapeutics for Dubowitz Syndrome

Search Clinical Trials , NIH Clinical Center for Dubowitz Syndrome

Cochrane evidence based reviews: dubowitz syndrome

Genetic Tests for Dubowitz Syndrome

Genetic tests related to Dubowitz Syndrome:

# Genetic test Affiliating Genes
1 Dubowitz's Syndrome 29

Anatomical Context for Dubowitz Syndrome

MalaCards organs/tissues related to Dubowitz Syndrome:

40
Eye, Bone, Heart, Skin

Publications for Dubowitz Syndrome

Articles related to Dubowitz Syndrome:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Dubowitz syndrome: a cholesterol metabolism disorder? 57 61 20
18990984 2008
2
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. 61 20 57
8723121 1996
3
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. 61 57
10797433 2000
4
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 57 61
10508998 1999
5
Dubowitz syndrome: long-term follow-up of an original patient. 61 57
7536394 1995
6
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? 61 57
1552551 1992
7
Chromosomal instability in two siblings with Dubowitz syndrome. 57 61
2043468 1991
8
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism. 61 57
2248292 1990
9
Dubowitz syndrome: possible evidence for a clinical subtype. 61 57
2185633 1990
10
Fatal aplastic anaemia in a child with features of Dubowitz syndrome. 61 57
3428295 1987
11
A Japanese patient with the Dubowitz syndrome. 57 61
3621642 1987
12
The Dubowitz syndrome. 57 61
3709570 1986
13
The diagnosis of Dubowitz syndrome in the neonatal period--a case report. 57 61
3732320 1986
14
Dubowitz syndrome. 57 61
3950932 1986
15
Aplastic anemia in Dubowitz syndrome. 57 61
4038999 1985
16
The Dubowitz syndrome: a retrospective. 57 61
3877102 1985
17
The Dubowitz syndrome: further observations. 61 57
6258433 1980
18
The Dubowitz syndrome: the psychological status of ten cases at follow-up. 57 61
7190357 1980
19
Brief clinical report: the Dubowitz syndrome in a teenager. 57 61
575467 1979
20
The Dubowitz syndrome. 57 61
263660 1978
21
[Dubowitz syndrome with immunodeficiency and solid malignant tumor in two siblings (author's transl)]. 57 61
917026 1977
22
A rare type of low birthweight dwarfism: the Dubowitz syndrome. 57 61
242126 1975
23
Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations. 57 61
4771703 1973
24
The Dubowitz syndrome. 61 57
5088752 1971
25
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres. 20 61
29696806 2018
26
FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION. 57
14296916 1965
27
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. 61
33098347 2021
28
Multiple cerebral cavernous malformations in association with a Dubowitz-like syndrome. 61
32596139 2020
29
Anaesthesia and orphan disease: Dubowitz syndrome. 61
31274551 2019
30
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 61
30580485 2018
31
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research. 61
30580484 2018
32
Spontaneous Keloids: A Literature Review. 61
30114700 2018
33
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature. 61
28464511 2017
34
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 61
28003643 2017
35
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 61
27612988 2016
36
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. 61
26377242 2015
37
Dubowitz syndrome and the increased risk of developing malignancies. 61
26009798 2015
38
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. 61
25559542 2015
39
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. 61
24973050 2014
40
Profound T-cell defects in Dubowitz syndrome. 61
24899539 2014
41
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 61
24892279 2014
42
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 61
23649928 2013
43
Identification of the DNA repair defects in a case of Dubowitz syndrome. 61
23372718 2013
44
Dubowitz syndrome: common findings and peculiar urine odor. 61
24159261 2013
45
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 61
22577224 2012
46
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. 61
23534331 2012
47
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. 61
21769769 2011
48
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. 61
22121397 2011
49
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? 61
21548126 2011
50
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 61
21567902 2011

Variations for Dubowitz Syndrome

Expression for Dubowitz Syndrome

Search GEO for disease gene expression data for Dubowitz Syndrome.

Pathways for Dubowitz Syndrome

GO Terms for Dubowitz Syndrome

Cellular components related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.31 XRCC4 VAX2 USB1 SMN2 SMN1 RNMT
2 nucleoplasm GO:0005654 10.07 XRCC4 USB1 SMN2 SMN1 RNMT PSMD12
3 Z disc GO:0030018 9.65 SMN2 SMN1 OBSL1
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.58 SMN2 SMN1 LIG4
5 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1
6 Gemini of coiled bodies GO:0097504 9.43 SMN2 SMN1
7 SMN complex GO:0032797 9.37 SMN2 SMN1
8 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.33 XRCC4 PRKDC LIG4
9 3M complex GO:1990393 9.32 OBSL1 CUL7
10 DNA ligase IV complex GO:0032807 9.13 XRCC4 NHEJ1 LIG4
11 nonhomologous end joining complex GO:0070419 9.02 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C

Biological processes related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.95 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
2 DNA repair GO:0006281 9.91 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
3 central nervous system development GO:0007417 9.78 VAX2 NHEJ1 LIG4
4 methylation GO:0032259 9.77 RNMT NSUN7 NSUN5 NSUN2 BUD23
5 DNA recombination GO:0006310 9.71 XRCC4 PRKDC LIG4 DCLRE1C
6 response to gamma radiation GO:0010332 9.62 PRKDC LIG4
7 spliceosomal complex assembly GO:0000245 9.61 SMN2 SMN1
8 regulation of mitotic nuclear division GO:0007088 9.6 OBSL1 CUL7
9 RNA methylation GO:0001510 9.59 NSUN5 NSUN2
10 import into nucleus GO:0051170 9.58 SMN2 SMN1
11 positive regulation of dendrite morphogenesis GO:0050775 9.58 OBSL1 CUL7
12 response to X-ray GO:0010165 9.57 XRCC4 LIG4
13 cellular response to lithium ion GO:0071285 9.56 XRCC4 LIG4
14 response to ionizing radiation GO:0010212 9.56 PRKDC NHEJ1 LIG4 DCLRE1C
15 DNA-templated transcription, termination GO:0006353 9.54 SMN2 SMN1
16 establishment of integrated proviral latency GO:0075713 9.52 XRCC4 LIG4
17 V(D)J recombination GO:0033151 9.5 PRKDC LIG4 DCLRE1C
18 DNA ligation involved in DNA repair GO:0051103 9.49 XRCC4 LIG4
19 T cell receptor V(D)J recombination GO:0033153 9.48 PRKDC LIG4
20 positive regulation of ligase activity GO:0051351 9.46 XRCC4 NHEJ1
21 pro-B cell differentiation GO:0002328 9.43 PRKDC LIG4
22 double-strand break repair via nonhomologous end joining GO:0006303 9.35 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
23 immunoglobulin V(D)J recombination GO:0033152 9.33 XRCC4 PRKDC LIG4
24 double-strand break repair GO:0006302 9.02 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C

Molecular functions related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.56 SMN2 SMN1 RNMT PRKDC NSUN7 NSUN5
2 ligase activity GO:0016874 9.33 XRCC4 UBE3B LIG4
3 methyltransferase activity GO:0008168 9.02 RNMT NSUN7 NSUN5 NSUN2 BUD23

Sources for Dubowitz Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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