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 57
Vater Association 59 29 6 72
Vacterl Association 59 74 72
Vacterl/vater Association 59 37
Vacterl 74

Characteristics:

Orphanet epidemiological data:

59
vacterl/vater association
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

57
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:

32
vater/vacterl association:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 192350
KEGG 37 H01195
MESH via Orphanet 45 C536495 C536534
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C0220708 C1735591
Orphanet 59 ORPHA887
UMLS 72 C0220708 C1735591

Summaries for Vater/vacterl Association

KEGG : 37
The acronym VATER/VACTERL association refers to the rare, non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). It is typically defined by the presence of at least three of these cardinal features. The aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. Chromosomal abnormalities have been described in rare individual cases and proposed as possible causal factors, including: deletions of distal 13q, ring chromosome 12, and 6q; duplication on 9q; mutations in PTEN, HOXD13, and ZIC3; and a mitochondrial substitution.

MalaCards based summary : Vater/vacterl Association, also known as vater 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 Folic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and lung, and related phenotypes are polyhydramnios and anal atresia

OMIM : 57 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)

UniProtKB/Swiss-Prot : 74 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 285)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula 29.6 ZIC3 HOXD13
2 vacterl association 27.9 ZIC3 PTF1A HOXD13 FOXF1 EPPK1
3 vacterl association, x-linked, with or without hydrocephalus 12.8
4 vacterl association with hydrocephalus 12.8
5 vacterl association with hydrocephaly, x-linked 12.5
6 fanconi anemia, complementation group a 11.5
7 tracheal agenesis 11.5
8 laryngeal cleft 11.5
9 vacterl hydrocephaly 11.5
10 tracheoesophageal fistula with or without esophageal atresia 10.6
11 esophageal atresia 10.6
12 heart septal defect 10.3
13 ventricular septal defect 10.3
14 polydactyly 10.2
15 scoliosis 10.2
16 duodenal atresia 10.2
17 renal dysplasia 10.2
18 esophageal atresia/tracheoesophageal fistula 10.1
19 pancreas, annular 10.1
20 neural tube defects 10.1
21 renal hypodysplasia/aplasia 1 10.1
22 anus, imperforate 10.1
23 atresia of urethra 10.1
24 neurofibromatosis, type iv, of riccardi 10.1
25 tetralogy of fallot 10.1
26 vesicoureteral reflux 1 10.1
27 deficiency anemia 10.1
28 hypospadias 10.1
29 end stage renal failure 10.1
30 sirenomelia 10.1
31 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
32 tracheal stenosis 10.0
33 prune belly syndrome 10.0
34 hemifacial microsomia 10.0
35 cryptorchidism, unilateral or bilateral 10.0
36 fanconi anemia, complementation group b 10.0
37 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.0
38 hydrocephalus 10.0
39 oligohydramnios 10.0
40 atrial heart septal defect 10.0
41 congenital hydrocephalus 10.0
42 amelia 10.0
43 adenocarcinoma 10.0
44 syringomyelia, noncommunicating isolated 10.0
45 hypothyroidism 10.0
46 syringomyelia 10.0
47 total anomalous pulmonary venous return 1 9.9
48 feingold syndrome 1 9.9
49 down syndrome 9.9
50 mitochondrial complex iv deficiency 9.9

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:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
2 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
3 tracheal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002777
4 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
5 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
6 laryngomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0001601
7 ectopic kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000086
8 tracheoesophageal fistula 59 32 frequent (33%) Frequent (79-30%) HP:0002575
9 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
10 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
11 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
12 renal agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0000104
13 abnormal cardiac septum morphology 32 frequent (33%) HP:0001671
14 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
15 abnormality of the gallbladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005264
16 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
17 cavernous hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001048
18 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
19 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
20 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
21 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
22 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
23 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
24 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
25 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
26 bifid scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000048
27 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
28 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
29 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
30 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
31 large fontanelles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000239
32 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
33 abnormal sacrum morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
34 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323
35 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
36 abnormality of the intervertebral disk 59 32 occasional (7.5%) Occasional (29-5%) HP:0005108
37 single umbilical artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0001195
38 occipital encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002085
39 failure to thrive 32 HP:0001508
40 scoliosis 32 HP:0002650
41 abnormal vertebral morphology 32 HP:0003468
42 malformation of the heart and great vessels 59 Frequent (79-30%)
43 patent ductus arteriosus 32 HP:0001643
44 postnatal growth retardation 32 HP:0008897
45 choanal atresia 32 HP:0000453
46 tetralogy of fallot 32 HP:0001636
47 abnormality of the cardiac septa 59 Frequent (79-30%)
48 vesicoureteral reflux 32 HP:0000076
49 ventricular septal defect 32 HP:0001629
50 spina bifida 32 HP:0002414

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
failure to thrive

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
hypospadias

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

Genitourinary Kidneys:
hydronephrosis
renal dysplasia
renal ectopia
renal aplasia

Neurologic Central Nervous System:
tethered cord
occipital encephalocele
spinal dysrhaphia

Respiratory Larynx:
laryngeal stenosis

Growth Other:
prenatal growth deficiency
postnatal growth deficiency

Respiratory Airways:
tracheal agenesis

Skeletal Spine:
scoliosis
vertebral anomalies

Abdomen Gastrointestinal:
tracheoesophageal fistula
anal atresia
esophageal atresia

Respiratory Nasopharynx:
choanal atresia

Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Skeletal Limbs:
radioulnar synostosis
radial aplasia
radial hypoplasia

Skeletal Hands:
triphalangeal thumb
syndactyly
preaxial polydactyly
thumb hypoplasia

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:

46
# 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
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
4 Micronutrients
5 Trace Elements
6 Lipid Regulating Agents
7 Vitamins
8 Folate
9 Vitamin B9
10 Vitamin B Complex
11 Vitamin B3
12 Nicotinic Acids
13 Nutrients
14 Hypolipidemic Agents
15 Vasodilator Agents
16 Antimetabolites

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571
2 Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations Recruiting NCT03799705

Search NIH Clinical Center for Vater/vacterl Association

Genetic Tests for Vater/vacterl Association

Genetic tests related to Vater/vacterl Association:

# Genetic test Affiliating Genes
1 Vater Association 29

Anatomical Context for Vater/vacterl Association

MalaCards organs/tissues related to Vater/vacterl Association:

41
Kidney, Heart, Lung, Pancreas, Trachea, Spinal Cord, Eye

Publications for Vater/vacterl Association

Articles related to Vater/vacterl Association:

(show top 50) (show all 216)
# Title Authors PMID Year
1
Evidence for inheritance in patients with VACTERL association. 38 8
20369369 2010
2
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. 38 8
10945658 2000
3
Ectopic bronchus: an insufficiently recognized malformation causing respiratory morbidity in VATER association. 38 8
9934977 1999
4
The VATER association. Analysis of 46 patients. 38 8
3946352 1986
5
Recurrence of the VATER association within a sibship. 38 8
7083612 1982
6
Caudal regression anomalad (sacral agenesis) in siblings. 38 8
657575 1978
7
Identification of a HOXD13 mutation in a VACTERL patient. 71
19006232 2008
8
Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. 8
18386801 2008
9
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 8
16825431 2007
10
The VACTERL association: lessons from the Sonic hedgehog pathway. 8
11359461 2001
11
VACTERL manifestations in two generations of a family. 8
9916841 1999
12
Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. 8
9382149 1997
13
VACTERL with the mitochondrial np 3243 point mutation. 8
8723071 1996
14
A population study of the VACTERL association: evidence for its etiologic heterogeneity. 8
6835768 1983
15
A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? 8
4175523 1968
16
Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. 38
31436871 2019
17
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. 38
30887706 2019
18
Urethral duplication in a child with VATER association. 38
30534525 2019
19
A vascular anomaly of the iliac artery in a patient with VATER association. 38
29636942 2018
20
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. 38
28605140 2017
21
Aberrant Right Subclavian Artery-Esophageal Fistula in 20-Year-Old with VATER Association. 38
31073436 2017
22
Vestibular Derangement and Motion Intolerance in VATER Association. 38
28611930 2017
23
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. 38
26857713 2016
24
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. 38
26072132 2016
25
Tracheal agenesis, a frightening scenario. 38
26740311 2016
26
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. 38
26881326 2016
27
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. 38
26294094 2015
28
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. 38
25775927 2015
29
Fetal hemivertebra: associations and perinatal outcome. 38
24789522 2015
30
Urinary reconstruction in vertebral, anorectal, cardiac, trachea-esophageal, renal abnormalities and limb defects association with chronic renal failure and penile duplication. 38
25115674 2015
31
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. 38
25131394 2014
32
Monochorionic-monoamniotic twins discordant for VATER association. 38
25073497 2014
33
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. 38
24668915 2014
34
[Carpal tunnel syndrome in children. About 10 clinical cases]. 38
24418261 2014
35
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12. 38
24239950 2014
36
Pregnancy outcome following gestational exposure to TNF-alpha-inhibitors: a prospective, comparative, observational study. 38
24284028 2014
37
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. 38
25059024 2014
38
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. 38
23549274 2013
39
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum. 38
24307608 2013
40
Analysis of cardiac anomalies in VACTERL association. 38
24343877 2013
41
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype? 38
23842449 2013
42
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. 38
23653572 2013
43
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. 38
23653577 2013
44
VACTERL-H Association and Fanconi Anemia. 38
23653579 2013
45
Clinical geneticists' views of VACTERL/VATER association. 38
23165726 2012
46
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. 38
22895008 2012
47
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study. 38
22978793 2012
48
Sirenomelia: case reports and current concepts of pathogenesis. 38
22816558 2012
49
Inheritance of the VATER/VACTERL association. 38
22581124 2012
50
Familial occurrence of the VATER/VACTERL association. 38
22422375 2012

Variations for Vater/vacterl Association

ClinVar genetic disease variations for Vater/vacterl Association:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 15 genes:HNF1B GRCh37/hg19 17q12(chr17: 34815551-36208392)x1 copy number loss Pathogenic 17:34815551-36208392 :0-0
2 FOXF1 NM_001451.3(FOXF1): c.658G> T (p.Gly220Cys) single nucleotide variant Likely pathogenic rs752504125 16:86544833-86544833 16:86511227-86511227
3 subset of 46 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18915347-21463730)x1 copy number loss Likely pathogenic 22:18915347-21463730 :0-0
4 CDH13 GRCh37/hg19 16q23.3(chr16: 83414018-83518410)x1 copy number loss Likely pathogenic 16:83414018-83518410 :0-0
5 FXYD4 ; HNRNPF GRCh37/hg19 10q11.21(chr10: 43796180-44037408)x3 copy number gain Likely pathogenic 10:43796180-44037408 :0-0
6 FAM170A GRCh37/hg19 5q23.1(chr5: 118890915-119082631)x1 copy number loss Likely pathogenic 5:118890915-119082631 :0-0
7 NREP GRCh37/hg19 5q22.1(chr5: 111241351-111390356)x1 copy number loss Likely benign 5:111241351-111390356 :0-0
8 PARM1 GRCh37/hg19 4q13.3(chr4: 75720151-75883784)x1 copy number loss Likely benign 4:75720151-75883784 :0-0
9 CCDC74A ; MZT2A ; TUBA3D GRCh37/hg19 2q21.1(chr2: 132140614-132312325)x3 copy number gain Likely benign 2:132140614-132312325 :0-0
10 SMYD3 GRCh37/hg19 1q44(chr1: 245900039-246475061)x1 copy number loss Likely benign 1:245900039-246475061 :0-0
11 FBP1 ; FBP2 GRCh37/hg19 9q22.32(chr9: 97290466-97419146)x1 copy number loss Likely benign 9:97290466-97419146 :0-0
12 CNTNAP2 GRCh37/hg19 7q35(chr7: 147516080-147803861)x1 copy number loss Likely benign 7:147516080-147803861 :0-0
13 AGMO GRCh37/hg19 7p21.2(chr7: 15424383-15534832)x3 copy number gain Likely benign 7:15424383-15534832 :0-0
14 ALPK3 ; NMB ; PDE8A ; SEC11A ; SLC28A1 ; WDR73 ; ZNF592 ; ZSCAN2 GRCh37/hg19 15q25.2-25.3(chr15: 84931022-85728834)x1 copy number loss Likely benign 15:84931022-85728834 :0-0
15 NALCN GRCh37/hg19 13q32.3-33.1(chr13: 101605129-101748121)x1 copy number loss Likely benign 13:101605129-101748121 :0-0
16 GPC5 GRCh37/hg19 13q31.3(chr13: 93377562-93606814)x1 copy number loss Likely benign 13:93377562-93606814 :0-0
17 DNAJC15 ; EPSTI1 GRCh37/hg19 13q14.11(chr13: 43505151-43762719)x3 copy number gain Likely benign 13:43505151-43762719 :0-0
18 ANKS1B ; UHRF1BP1L GRCh37/hg19 12q23.1(chr12: 100367541-100489446)x1 copy number loss Likely benign 12:100367541-100489446 :0-0
19 SORCS1 GRCh37/hg19 10q25.1(chr10: 107722094-109081424)x3 copy number gain Likely benign 10:107722094-109081424 :0-0
20 B3GNTL1 ; METRNL ; TBCD GRCh37/hg19 17q25.3(chr17: 80881583-81060040)x3 copy number gain Likely benign 17:80881583-81060040 :0-0
21 ABR ; BHLHA9 ; TRARG1 ; YWHAE GRCh37/hg19 17p13.3(chr17: 1007540-1254875)x3 copy number gain Likely benign 17:1007540-1254875 :0-0

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:

37
# 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 PTF1A FOXF1

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 ZIC3 PTF1A FOXF1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.46 ZIC3 PTF1A HOXD13 FOXF1
3 anterior/posterior pattern specification GO:0009952 9.4 ZIC3 HOXD13
4 lung development GO:0030324 9.37 ZIC3 FOXF1
5 determination of left/right symmetry GO:0007368 9.32 ZIC3 FOXF1
6 pattern specification process GO:0007389 9.26 ZIC3 HOXD13
7 pancreas development GO:0031016 8.96 PTF1A FOXF1
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 ZIC3 PTF1A HOXD13 FOXF1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 ZIC3 PTF1A HOXD13 FOXF1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.16 HOXD13 FOXF1
4 sequence-specific DNA binding GO:0043565 8.92 ZIC3 PTF1A HOXD13 FOXF1

Sources for Vater/vacterl Association

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
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