VACTERL
MCID: VTR016
MIFTS: 51

Vater/vacterl Association (VACTERL)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Vater/vacterl Association

MalaCards integrated aliases for Vater/vacterl Association:

Name: Vater/vacterl Association 58
Vacterl Association 60 76 74
Vacterl/vater Association 60 38
Vater Association 60 74
Vacterl 76

Characteristics:

Orphanet epidemiological data:

60
vacterl/vater association
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

58
Miscellaneous:
single umbilical artery
seen more frequently in infants of diabetic mothers
estimated frequency 1.6 cases/10,000 live births
nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies)
diagnosis made if 3/7 defects are present

Inheritance:
isolated cases


HPO:

33
vater/vacterl association:
Inheritance sporadic


Classifications:



Summaries for Vater/vacterl Association

OMIM : 58 VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390). (192350)

MalaCards based summary : Vater/vacterl Association, also known as vacterl association, is related to tracheoesophageal fistula and vacterl association. An important gene associated with Vater/vacterl Association is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreas and testes, and related phenotypes are anal atresia and polyhydramnios

UniProtKB/Swiss-Prot : 76 VACTERL association: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Related Diseases for Vater/vacterl Association

Diseases related to Vater/vacterl Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula 29.3 ZIC3 HOXD13
2 vacterl association 29.1 ZIC3 PTF1A HOXD13 FOXF1 EPPK1
3 vacterl association, x-linked, with or without hydrocephalus 12.7
4 vacterl association with hydrocephalus 12.7
5 vacterl association with hydrocephaly, x-linked 12.5
6 vacterl with hydrocephalus 12.2
7 vacterl hydrocephaly 11.7
8 fanconi anemia, complementation group a 11.4
9 laryngeal cleft 11.4
10 tracheal agenesis 11.4
11 fanconi anemia, complementation group b 11.2
12 pancreas, annular 10.1
13 neural tube defects 10.1
14 tracheoesophageal fistula with or without esophageal atresia 10.1
15 anus, imperforate 10.1
16 neural tube defects, folate-sensitive 10.1
17 esophageal atresia 10.1
18 lung agenesis 10.1
19 histiocytosis-lymphadenopathy plus syndrome 10.1
20 sacral defect with anterior meningocele 10.0
21 hydrocephalus 10.0
22 sirenomelia 10.0
23 hypothyroidism 10.0
24 prune belly syndrome 9.9
25 total anomalous pulmonary venous return 1 9.9
26 renal hypodysplasia/aplasia 1 9.9
27 scoliosis 9.9
28 cakut 9.9
29 atresia of urethra 9.9
30 neurofibromatosis, type i 9.9
31 neurofibromatosis, type iv, of riccardi 9.9
32 somatostatinoma 9.9
33 sympathetic ophthalmia 9.9
34 pallister-hall syndrome 9.8
35 currarino syndrome 9.8
36 neuroblastoma 9.8
37 tracheobronchial stenosis, congenital 9.8
38 acrofacial dysostosis 9.8
39 portal hypertension 9.8
40 hypertrophic pyloric stenosis 9.8
41 pyloric stenosis 9.8
42 ventricular septal defect 9.8
43 dysostosis 9.8
44 tracheal stenosis 9.8
45 syringomyelia 9.8
46 pseudohermaphroditism 9.8
47 adrenal neuroblastoma 9.8
48 myotonic dystrophy 9.8
49 branchial arch defects 9.8
50 congenital hydrocephalus 9.8

Graphical network of the top 20 diseases related to Vater/vacterl Association:



Diseases related to Vater/vacterl Association

Symptoms & Phenotypes for Vater/vacterl Association

Human phenotypes related to Vater/vacterl Association:

60 33 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002023
2 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
3 tracheal stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002777
4 aplasia/hypoplasia of the lungs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006703
5 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
6 laryngomalacia 60 33 frequent (33%) Frequent (79-30%) HP:0001601
7 ectopic kidney 60 33 frequent (33%) Frequent (79-30%) HP:0000086
8 tracheoesophageal fistula 60 33 frequent (33%) Frequent (79-30%) HP:0002575
9 vertebral segmentation defect 60 33 frequent (33%) Frequent (79-30%) HP:0003422
10 congenital diaphragmatic hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000776
11 aplasia/hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0006501
12 renal agenesis 60 33 frequent (33%) Frequent (79-30%) HP:0000104
13 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
14 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
15 abnormality of the gallbladder 60 33 occasional (7.5%) Occasional (29-5%) HP:0005264
16 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
17 cavernous hemangioma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001048
18 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
19 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
20 non-midline cleft lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0100335
21 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
22 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
23 abnormality of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001732
24 low-set, posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000368
25 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772
26 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
27 large fontanelles 60 33 occasional (7.5%) Occasional (29-5%) HP:0000239
28 ambiguous genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000062
29 bifid scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000048
30 preaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001177
31 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
32 anencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002323
33 abnormality of female internal genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000008
34 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
35 abnormality of the intervertebral disk 60 33 occasional (7.5%) Occasional (29-5%) HP:0005108
36 single umbilical artery 60 33 occasional (7.5%) Occasional (29-5%) HP:0001195
37 occipital encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002085
38 abnormal sacrum morphology 33 occasional (7.5%) HP:0005107
39 failure to thrive 33 HP:0001508
40 scoliosis 33 HP:0002650
41 abnormal vertebral morphology 33 HP:0003468
42 malformation of the heart and great vessels 60 Frequent (79-30%)
43 patent ductus arteriosus 33 HP:0001643
44 postnatal growth retardation 33 HP:0008897
45 vesicoureteral reflux 33 HP:0000076
46 tetralogy of fallot 33 HP:0001636
47 choanal atresia 33 HP:0000453
48 ventricular septal defect 33 HP:0001629
49 spina bifida 33 HP:0002414
50 anorectal anomaly 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
failure to thrive

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastrointestinal:
anal atresia
tracheoesophageal fistula
esophageal atresia

Cardiovascular Heart:
tetralogy of fallot
transposition of the great arteries
ventricular septal defects

Skeletal Limbs:
radioulnar synostosis
radial aplasia
radial hypoplasia

Genitourinary Kidneys:
hydronephrosis
renal dysplasia
renal ectopia
renal aplasia

Respiratory Larynx:
laryngeal stenosis

Growth Other:
prenatal growth deficiency
postnatal growth deficiency

Respiratory Airways:
tracheal agenesis

Skeletal Spine:
scoliosis
vertebral anomalies

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Respiratory Nasopharynx:
choanal atresia

Skeletal Hands:
triphalangeal thumb
syndactyly
preaxial polydactyly
thumb hypoplasia

Neurologic Central Nervous System:
occipital encephalocele
tethered cord
spinal dysrhaphia

Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies
sternal anomalies

Head And Neck Head:
large fontanels

Genitourinary Bladder:
persistent urachus

Clinical features from OMIM:

192350

MGI Mouse Phenotypes related to Vater/vacterl Association:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 FOXF1 HOXD13 PTF1A ZIC3
2 embryo MP:0005380 8.92 FOXF1 HOXD13 PTF1A ZIC3

Drugs & Therapeutics for Vater/vacterl Association

Drugs for Vater/vacterl Association (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
3
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4 Vasodilator Agents
5 Antimetabolites
6 Nutrients
7 Vitamin B Complex
8 Hypolipidemic Agents
9 Nicotinic Acids
10 Trace Elements
11 Vitamins
12 Micronutrients
13 Vitamin B9
14 Folate
15 Lipid Regulating Agents
16 Vitamin B3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571
2 Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway Not yet recruiting NCT03799705

Search NIH Clinical Center for Vater/vacterl Association

Genetic Tests for Vater/vacterl Association

Anatomical Context for Vater/vacterl Association

MalaCards organs/tissues related to Vater/vacterl Association:

42
Kidney, Pancreas, Testes, Spinal Cord, Uterus, Trachea

Publications for Vater/vacterl Association

Articles related to Vater/vacterl Association:

(show top 50) (show all 168)
# Title Authors Year
1
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. ( 29131674 )
2018
2
Crohn's disease in a girl with VACTERL association: Can mitochondrial dysfunction coexist? ( 30455041 )
2018
3
Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. ( 30503021 )
2018
4
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report. ( 30407282 )
2018
5
Phenotypic diversity of patients diagnosed with VACTERL association. ( 30152190 )
2018
6
Attention difficulties and physical dysfunction common in children with complex congenital malformations: a study of preschool children with VACTERL association. ( 30187514 )
2018
7
Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association. ( 30428812 )
2018
8
The etiology of VACTERL association: Current knowledge and hypotheses. ( 30580478 )
2018
9
VACTERL association - Ultrasound findings and autopsy correlation. ( 30662209 )
2018
10
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
11
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2017
12
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. ( 29062381 )
2017
13
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
14
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
15
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
16
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
17
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
18
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
19
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
20
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
21
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
22
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
23
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
24
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
25
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
26
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
27
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
28
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
29
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
30
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. ( 25775927 )
2015
31
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
32
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
33
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
34
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
35
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
36
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
37
Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. ( 25008186 )
2014
38
A case of VACTERL and non-VACTERL association without the "V and L". ( 24591785 )
2014
39
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. ( 24416387 )
2014
40
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
41
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
42
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ( 25059024 )
2014
43
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
44
Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. ( 24668915 )
2014
45
Analysis of renal anomalies in VACTERL association. ( 25196458 )
2014
46
Considering the Embryopathogenesis of VACTERL Association. ( 23653571 )
2013
47
Unusual variant of scimitar syndrome associated with an absent right pulmonary artery, stenosis of the inferior vena cava, hemi-azygous continuation and the VACTERL association. ( 23728126 )
2013
48
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. ( 24368291 )
2013
49
Adriamycin-Induced Models of VACTERL Association. ( 23653576 )
2013
50
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013

Variations for Vater/vacterl Association

ClinVar genetic disease variations for Vater/vacterl Association:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.658G> T (p.Gly220Cys) single nucleotide variant Likely pathogenic rs752504125 GRCh38 Chromosome 16, 86511227: 86511227
2 FOXF1 NM_001451.2(FOXF1): c.658G> T (p.Gly220Cys) single nucleotide variant Likely pathogenic rs752504125 GRCh37 Chromosome 16, 86544833: 86544833
3 SMYD3 GRCh37/hg19 1q44(chr1: 245900039-246475061)x1 copy number loss Likely benign GRCh37 Chromosome 1, 245900039: 246475061
4 CCDC74A; MZT2A; TUBA3D GRCh37/hg19 2q21.1(chr2: 132140614-132312325)x3 copy number gain Likely benign GRCh37 Chromosome 2, 132140614: 132312325
5 PARM1 GRCh37/hg19 4q13.3(chr4: 75720151-75883784)x1 copy number loss Likely benign GRCh37 Chromosome 4, 75720151: 75883784
6 NREP GRCh37/hg19 5q22.1(chr5: 111241351-111390356)x1 copy number loss Likely benign GRCh37 Chromosome 5, 111241351: 111390356
7 FAM170A GRCh37/hg19 5q23.1(chr5: 118890915-119082631)x1 copy number loss Likely pathogenic GRCh37 Chromosome 5, 118890915: 119082631
8 AGMO GRCh37/hg19 7p21.2(chr7: 15424383-15534832)x3 copy number gain Likely benign GRCh37 Chromosome 7, 15424383: 15534832
9 CNTNAP2 GRCh37/hg19 7q35(chr7: 147516080-147803861)x1 copy number loss Likely benign GRCh37 Chromosome 7, 147516080: 147803861
10 FBP1; FBP2 GRCh37/hg19 9q22.32(chr9: 97290466-97419146)x1 copy number loss Likely benign GRCh37 Chromosome 9, 97290466: 97419146
11 FXYD4; HNRNPF GRCh37/hg19 10q11.21(chr10: 43796180-44037408)x3 copy number gain Likely pathogenic GRCh37 Chromosome 10, 43796180: 44037408
12 SORCS1 GRCh37/hg19 10q25.1(chr10: 107722094-109081424)x3 copy number gain Likely benign GRCh37 Chromosome 10, 107722094: 109081424
13 ANKS1B; UHRF1BP1L GRCh37/hg19 12q23.1(chr12: 100367541-100489446)x1 copy number loss Likely benign GRCh37 Chromosome 12, 100367541: 100489446
14 DNAJC15; EPSTI1 GRCh37/hg19 13q14.11(chr13: 43505151-43762719)x3 copy number gain Likely benign GRCh37 Chromosome 13, 43505151: 43762719
15 GPC5 GRCh37/hg19 13q31.3(chr13: 93377562-93606814)x1 copy number loss Likely benign GRCh37 Chromosome 13, 93377562: 93606814
16 NALCN GRCh37/hg19 13q32.3-33.1(chr13: 101605129-101748121)x1 copy number loss Likely benign GRCh37 Chromosome 13, 101605129: 101748121
17 ALPK3; NMB; PDE8A; SEC11A; SLC28A1; WDR73; ZNF592; ZSCAN2 GRCh37/hg19 15q25.2-25.3(chr15: 84931022-85728834)x1 copy number loss Likely benign GRCh37 Chromosome 15, 84931022: 85728834
18 CDH13 GRCh37/hg19 16q23.3(chr16: 83414018-83518410)x1 copy number loss Likely pathogenic GRCh37 Chromosome 16, 83414018: 83518410
19 ABR; BHLHA9; TRARG1; YWHAE GRCh37/hg19 17p13.3(chr17: 1007540-1254875)x3 copy number gain Likely benign GRCh37 Chromosome 17, 1007540: 1254875
20 subset of 15 genes:HNF1B GRCh37/hg19 17q12(chr17: 34815551-36208392)x1 copy number loss Pathogenic GRCh37 Chromosome 17, 34815551: 36208392
21 B3GNTL1; METRNL; TBCD GRCh37/hg19 17q25.3(chr17: 80881583-81060040)x3 copy number gain Likely benign GRCh37 Chromosome 17, 80881583: 81060040
22 subset of 46 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18915347-21463730)x1 copy number loss Likely pathogenic GRCh37 Chromosome 22, 18915347: 21463730

Expression for Vater/vacterl Association

Search GEO for disease gene expression data for Vater/vacterl Association.

Pathways for Vater/vacterl Association

Pathways related to Vater/vacterl Association according to KEGG:

38
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 p53 signaling pathway hsa04115
4 Focal adhesion hsa04510
5 Tight junction hsa04530

Pathways related to Vater/vacterl Association according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 FOXF1 PTF1A

GO Terms for Vater/vacterl Association

Biological processes related to Vater/vacterl Association according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.61 FOXF1 PTF1A ZIC3
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.46 FOXF1 HOXD13 PTF1A ZIC3
3 anterior/posterior pattern specification GO:0009952 9.4 HOXD13 ZIC3
4 lung development GO:0030324 9.37 FOXF1 ZIC3
5 determination of left/right symmetry GO:0007368 9.32 FOXF1 ZIC3
6 pattern specification process GO:0007389 9.26 HOXD13 ZIC3
7 pancreas development GO:0031016 8.96 FOXF1 PTF1A
8 transcription by RNA polymerase II GO:0006366 8.32 HOXD13

Molecular functions related to Vater/vacterl Association according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.56 FOXF1 HOXD13 PTF1A ZIC3
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 FOXF1 HOXD13 PTF1A ZIC3
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.16 FOXF1 HOXD13
4 sequence-specific DNA binding GO:0043565 8.92 FOXF1 HOXD13 PTF1A ZIC3

Sources for Vater/vacterl Association

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
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