MCID: VCT001
MIFTS: 50

Vacterl Association

Categories: Nephrological diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Vacterl Association

Summaries for Vacterl Association

MedlinePlus Genetics: 42 VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands.Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult.

MalaCards based summary: Vacterl Association, also known as vater association, is related to vater/vacterl association and vacterl association, x-linked, with or without hydrocephalus. An important gene associated with Vacterl Association is FANCL (FA Complementation Group L), and among its related pathways/superpathways are Signaling by Hedgehog and Neural Stem Cells and Lineage-specific Markers. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include kidney, trachea and heart, and related phenotypes are growth/size/body region and endocrine/exocrine gland

GARD: 19 VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.

Disease Ontology: 11 A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Wikipedia: 75 The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a... more...

Related Diseases for Vacterl Association

Diseases related to Vacterl Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 324)
# Related Disease Score Top Affiliating Genes
1 vater/vacterl association 32.8 HOXD13 FOXF1 FANCL FAM170A CDH13
2 vacterl association, x-linked, with or without hydrocephalus 32.8 ZIC3 TRAP1 FOXF1 FANCL FANCB
3 vacterl association with hydrocephaly, x-linked 32.7 ZIC3 FANCL
4 heart septal defect 30.8 ZIC3 FGF8 CHD7
5 renal hypodysplasia/aplasia 1 30.7 SALL1 FGF8 CHD7
6 duodenal atresia 30.7 ZIC3 SHH MTHFSD FOXF1
7 ventricular septal defect 30.6 ZIC3 FOXF1 FGF8 CHD7
8 atrial heart septal defect 30.6 ZIC3 SHH FOXF1 CHD7
9 hypospadias 30.4 SHH HOXD13 FGF8
10 diaphragmatic hernia, congenital 30.4 SHH GLI3 FOXF1
11 esophageal atresia 30.3 ZIC3 SHH MTHFSD HOXD13 GLI3 GLI2
12 vesicoureteral reflux 30.3 ZIC3 SALL1 FGF8
13 patent ductus arteriosus 1 30.3 ZIC3 FOXF1 CHD7
14 tetralogy of fallot 30.2 ZIC3 SHH FOXF1 FGF8 CHD7
15 pancreas, annular 30.1 ZIC3 SHH MTHFSD FOXL1 FOXF1
16 cryptorchidism, unilateral or bilateral 30.1 SHH GLI3 FGF8 CHD7
17 atrioventricular septal defect 30.1 ZIC3 SHH CHD7
18 feingold syndrome 1 30.0 SHH MTHFSD GLI3 FOXF1 CHD7
19 choanal atresia, posterior 29.9 SHH FGF8 CHD7
20 hypoplastic left heart syndrome 29.9 ZIC3 FOXL1 FOXF1 CHD7
21 charge syndrome 29.8 ZIC3 GLI3 FGF8 CHD7
22 neural tube defects 29.8 ZIC3 SHH MNX1 GLI3 FGF8
23 synostosis 29.8 SHH HOXD13 GLI3 FGF8
24 omphalocele 29.7 SHH MNX1 FOXF1
25 townes-brocks syndrome 29.7 SHH SALL1 HOXD13 GLI3 FGF8 CHD7
26 tracheomalacia 29.7 SHH FOXF1
27 polydactyly 29.7 SHH MNX1 HOXD13 GLI3 GLI2 GLI1
28 sacral defect with anterior meningocele 29.5 SHH PCSK5 MNX1 HOXD13 FGF8
29 currarino syndrome 29.5 SHH PCSK5 MNX1 HOXD13
30 microphthalmia, syndromic 3 29.3 SHH MTHFSD GLI3 FOXL1 FOXF1 FANCB
31 craniosynostosis 29.2 SHH GLI3 GLI2 GLI1 FGF8
32 anus, imperforate 29.1 ZIC3 SHH SALL1 MTHFSD MNX1 HOXD13
33 cleft palate, isolated 29.1 ZIC3 SHH GLI3 GLI2 GLI1 FGF8
34 holoprosencephaly 29.0 SHH MNX1 GLI3 GLI2 GLI1 FGF8
35 chromosome 2q35 duplication syndrome 28.9 SHH SALL1 HOXD13 GLI3 GLI2 GLI1
36 pallister-hall syndrome 28.3 ZIC3 SHH SALL1 MTHFSD HOXD13 GLI3
37 vacterl association with hydrocephalus 11.5
38 vacterl hydrocephaly 11.4
39 fanconi anemia, complementation group a 11.2
40 vacterl with hydrocephalus 11.1
41 familial caudal dysgenesis 11.1
42 spondylocostal dysostosis 1, autosomal recessive 10.6
43 scoliosis 10.3
44 renal dysplasia 10.3
45 fanconi anemia, complementation group v 10.3 FANCL FANCB
46 deficiency anemia 10.3
47 esophageal atresia/tracheoesophageal fistula 10.2
48 fanconi anemia, complementation group o 10.2 FANCL FANCB
49 tibia, hypoplasia or aplasia of, with polydactyly 10.2 SHH HOXD13 GLI3
50 holoprosencephaly 1 10.2 SHH FGF8

Graphical network of the top 20 diseases related to Vacterl Association:



Diseases related to Vacterl Association

Symptoms & Phenotypes for Vacterl Association

MGI Mouse Phenotypes related to Vacterl Association:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 CHD7 FAM170A FANCB FANCL FGF8 FOXF1
2 endocrine/exocrine gland MP:0005379 10.38 CDH13 CHD7 FAM170A FANCB FANCL FGF8
3 cellular MP:0005384 10.3 CHD7 FAM170A FANCB FANCL FGF8 FOXF1
4 nervous system MP:0003631 10.28 CHD7 FGF8 GLI1 GLI2 GLI3 MNX1
5 digestive/alimentary MP:0005381 10.25 CHD7 FGF8 FOXF1 FOXL1 GLI1 GLI2
6 embryo MP:0005380 10.23 CHD7 FANCL FGF8 FOXF1 GLI1 GLI2
7 limbs/digits/tail MP:0005371 10.22 CHD7 FGF8 GLI1 GLI2 GLI3 HOXD13
8 normal MP:0002873 10.15 FGF8 GLI1 GLI2 GLI3 MNX1 SALL1
9 hearing/vestibular/ear MP:0005377 10.05 CHD7 FGF8 GLI2 GLI3 SALL1 SHH
10 reproductive system MP:0005389 10.03 CDH13 CHD7 FAM170A FANCB FANCL FGF8
11 respiratory system MP:0005388 10.02 CHD7 FGF8 FOXF1 GLI1 GLI2 GLI3
12 craniofacial MP:0005382 10.01 CHD7 FGF8 GLI1 GLI2 GLI3 PCSK5
13 skeleton MP:0005390 9.97 CDH13 CHD7 FANCL FGF8 GLI1 GLI2
14 vision/eye MP:0005391 9.61 CDH13 CHD7 FGF8 GLI2 GLI3 HOXD13
15 mortality/aging MP:0010768 9.5 CDH13 CHD7 FANCL FGF8 FOXF1 FOXL1

Drugs & Therapeutics for Vacterl Association

Drugs for Vacterl Association (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# 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 Vitamin B3
4 Nicotinic Acids

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 Vacterl Association

Cochrane evidence based reviews: vater association

Genetic Tests for Vacterl Association

Genetic tests related to Vacterl Association:

# Genetic test Affiliating Genes
1 Vacterl Association 28
2 Vater Association 28

Anatomical Context for Vacterl Association

Organs/tissues related to Vacterl Association:

MalaCards : Kidney, Trachea, Heart, Spinal Cord, Pancreas, Lung, Uterus

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 617)
# Title Authors PMID Year
1
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 62 5
25754594 2015
2
[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 5
2629409 1989
3
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. 62
36474027 2022
4
Swallowing-related quality of life in children with oesophageal atresia: a national cohort study. 62
36331620 2022
5
Preliminary Experience With Quadratus Lumborum Catheters for Postoperative Pain Management in Pediatric-Aged Patients With Contraindications to Epidural Anesthesia. 62
36406942 2022
6
In vitro fertilization outcomes in VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb anomalies): report of 2 cases. 62
36212569 2022
7
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy. 62
35484986 2022
8
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. 62
35491967 2022
9
Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A pediatric colorectal and pelvic learning consortium study. 62
35879143 2022
10
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation. 62
35362267 2022
11
Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia. 62
35813671 2022
12
Is horseshoe lung a component of VACTERL spectrum? Case report and review of literature. 62
35282320 2022
13
Birth defect co-occurrence patterns in the Texas Birth Defects Registry. 62
34193968 2022
14
Congenital musculoskeletal anomalies - key radiographic findings. 62
34731287 2022
15
Prenatal diagnosis of VACTERL association in the first trimester. 62
35037266 2022
16
Long-term urology outcomes of anorectal malformation. 62
35283020 2022
17
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. 62
35277952 2022
18
Prenatal Diagnosis and Outcome of Scimitar Syndrome: A Case Series of Six Patients. 62
35330021 2022
19
Genetic Evidence for Congenital Vascular Disorders in Patients with VACTERL Association. 62
34823266 2022
20
Right Pulmonary Artery Originating from Ascending Aorta (Hemitruncus Arteriosus) with VACTERL Association in a Neonate: A Case Report. 62
35204915 2022
21
Extra-cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot. 62
35060156 2022
22
Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register. 62
34343375 2022
23
Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study. 62
35622841 2022
24
Terminal myelocystocele: Surgical management. 62
35855164 2022
25
A Network of Anomalies Prompting VACTERL Workup in a Trisomy 21 Newborn. 62
35186552 2022
26
Primary repair of esophageal atresia is followed by multiple diagnostic and surgical procedures. 62
34229878 2021
27
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. 62
34338422 2021
28
VACTERL association in a fetus with multiple congenital malformations - Case report. 62
35126759 2021
29
Quality of Life Outcomes in Primary Caregivers of Children with Esophageal Atresia. 62
34329689 2021
30
Anal atresia as the diagnostic clue in VACTERL association: A first-trimester case report. 62
34365700 2021
31
Post-herniorrhaphy extubation technique in pediatric patient with congenital diaphragmatic hernia and VACTERL association: A case report. 62
34540207 2021
32
Fifty years of recognizable patterns of human malformation: Insights and opportunities. 62
33951288 2021
33
Surgical Management of an Obstructive Müllerian Anomaly in a Patient with Anorectal Malformation. 62
34414074 2021
34
Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes. 62
34118793 2021
35
VACTERL Associated with a Rare Limb Anomaly Combined with Edward (Trisomy 18) Syndrome. 62
34321798 2021
36
Accompanied anomalies in anal atresia or tracheo-esophageal fistula: Comparison with or without VACTERL association. 62
33616304 2021
37
Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. 62
33522143 2021
38
Triple Atresia, Triple Threat? An Unusual Constellation of Primary Surgical Abnormalities. 62
33921220 2021
39
Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases. 62
33805876 2021
40
Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. 62
33678342 2021
41
The Classification of VACTERL Association into 3 Groups According to the Limb Defect. 62
33680640 2021
42
Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention. 62
33466296 2021
43
Assisted Reproductive Technology and Anorectal Malformation: A Single-Center Experience. 62
34604138 2021
44
Successful thoracoscopic treatment for tracheoesophageal fistula and esophageal atresia of communicating bronchopulmonary foregut malformation group IB with dextrocardia: a case report of VACTERL association. 62
33409676 2021
45
Multidisciplinary approach to paediatric aerodigestive disorders: A single-centre longitudinal observational study. 62
32886957 2020
46
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. 62
33276377 2020
47
Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. 62
33505230 2020
48
Maternal risk associated with the VACTERL association: A case-control study. 62
33179873 2020
49
[Morbidity of congenital heart disease in children with anorectal malformations and related treatment]. 62
33210486 2020
50
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. 62
32359821 2020

Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 15 genes GRCh37/hg19 17q12(chr17:34815551-36208392)x1 CN LOSS Pathogenic
393547 GRCh37: 17:34815551-36208392
GRCh38:
2 FANCL NM_018062.4(FANCL):c.268del (p.Leu90fs) DEL Pathogenic
209076 rs869320684 GRCh37: 2:58453868-58453868
GRCh38: 2:58226733-58226733
3 CDH13 GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1 CN LOSS Likely Pathogenic
393545 GRCh37: 16:83414018-83518410
GRCh38:
4 FAM170A GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1 CN LOSS Likely Pathogenic
393534 GRCh37: 5:118890915-119082631
GRCh38:
5 overlap with 2 genes GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3 CN GAIN Likely Pathogenic
393538 GRCh37: 10:43796180-44037408
GRCh38:
6 FOXF1 NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) SNV Likely Pathogenic
190130 rs752504125 GRCh37: 16:86544833-86544833
GRCh38: 16:86511227-86511227
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 CN LOSS Likely Pathogenic
393549 GRCh37: 22:18915347-21463730
GRCh38:
8 NOTCH2 NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) SNV Uncertain Significance
596711 rs377058108 GRCh37: 1:120478194-120478194
GRCh38: 1:119935571-119935571
9 HOXD13 NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del) DEL Uncertain Significance
14877 rs587776824 GRCh37: 2:176957781-176957801
GRCh38: 2:176093053-176093073
10 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3 CN GAIN Likely Benign
393546 GRCh37: 17:1007540-1254875
GRCh38:
11 NALCN GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1 CN LOSS Likely Benign
393543 GRCh37: 13:101605129-101748121
GRCh38:
12 AGMO GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3 CN GAIN Likely Benign
393535 GRCh37: 7:15424383-15534832
GRCh38:
13 PARM1 GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1 CN LOSS Likely Benign
393532 GRCh37: 4:75720151-75883784
GRCh38:
14 overlap with 8 genes GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1 CN LOSS Likely Benign
393544 GRCh37: 15:84931022-85728834
GRCh38:
15 overlap with 2 genes GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3 CN GAIN Likely Benign
393541 GRCh37: 13:43505151-43762719
GRCh38:
16 overlap with 3 genes GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3 CN GAIN Likely Benign
393548 GRCh37: 17:80881583-81060040
GRCh38:
17 overlap with 3 genes GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3 CN GAIN Likely Benign
393531 GRCh37: 2:132140614-132312325
GRCh38:
18 overlap with 2 genes GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1 CN LOSS Likely Benign
393540 GRCh37: 12:100367541-100489446
GRCh38:
19 SMYD3 GRCh37/hg19 1q44(chr1:245900039-246475061)x1 CN LOSS Likely Benign
393530 GRCh37: 1:245900039-246475061
GRCh38:
20 overlap with 2 genes GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1 CN LOSS Likely Benign
393537 GRCh37: 9:97290466-97419146
GRCh38:
21 GPC5 GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1 CN LOSS Likely Benign
393542 GRCh37: 13:93377562-93606814
GRCh38:
22 SORCS1 GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3 CN GAIN Likely Benign
393539 GRCh37: 10:107722094-109081424
GRCh38:
23 NREP GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1 CN LOSS Likely Benign
393533 GRCh37: 5:111241351-111390356
GRCh38:
24 CNTNAP2 GRCh37/hg19 7q35(chr7:147516080-147803861)x1 CN LOSS Likely Benign
393536 GRCh37: 7:147516080-147803861
GRCh38:

Expression for Vacterl Association

Search GEO for disease gene expression data for Vacterl Association.

Pathways for Vacterl Association

GO Terms for Vacterl Association

Cellular components related to Vacterl Association according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary tip GO:0097542 9.63 GLI3 GLI2 GLI1
2 ciliary base GO:0097546 9.43 GLI3 GLI2 GLI1
3 GLI-SUFU complex GO:1990788 9.02 GLI3 GLI2 GLI1

Biological processes related to Vacterl Association according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.61 ZIC3 SHH SALL1 HOXD13 GLI3 GLI2
2 positive regulation of DNA-templated transcription GO:0045893 10.55 ZIC3 SHH SALL1 GLI3 GLI2 GLI1
3 skeletal system development GO:0001501 10.31 ZIC3 HOXD13 GLI2 CHD7
4 regulation of cell population proliferation GO:0042127 10.27 SHH HOXD13 GLI3 FANCL
5 central nervous system development GO:0007417 10.27 CHD7 GLI3 MNX1 SHH ZIC3
6 heart looping GO:0001947 10.21 ZIC3 SHH FGF8
7 neuron differentiation GO:0030182 10.21 ZIC3 SHH GLI3 GLI2 FGF8
8 odontogenesis of dentin-containing tooth GO:0042475 10.19 SHH GLI3 GLI2
9 branching involved in ureteric bud morphogenesis GO:0001658 10.19 SHH SALL1 GLI3 FGF8
10 metanephros development GO:0001656 10.17 SHH GLI3 FGF8
11 embryonic hindlimb morphogenesis GO:0035116 10.16 SHH FGF8 CHD7
12 proximal/distal pattern formation GO:0009954 10.16 GLI1 GLI2 GLI3
13 pituitary gland development GO:0021983 10.15 GLI1 GLI2 SALL1
14 kidney development GO:0001822 10.15 SHH SALL1 PCSK5 GLI3 GLI2 FGF8
15 stem cell proliferation GO:0072089 10.14 SHH GLI3 GLI2 FGF8
16 roof of mouth development GO:0060021 10.13 SHH GLI3 CHD7
17 male genitalia development GO:0030539 10.12 FGF8 HOXD13 SHH
18 embryonic digit morphogenesis GO:0042733 10.11 SHH SALL1 HOXD13 GLI3 GLI2
19 embryonic digestive tract morphogenesis GO:0048557 10.1 SHH GLI3 FOXF1
20 determination of left/right symmetry GO:0007368 10.1 ZIC3 SHH PCSK5 FOXF1 FGF8
21 smoothened signaling pathway GO:0007224 10.1 FOXF1 GLI1 GLI2 GLI3 SHH ZIC3
22 developmental growth GO:0048589 10.07 GLI2 GLI3 SHH
23 branching morphogenesis of an epithelial tube GO:0048754 10.06 SHH GLI3 GLI2
24 anterior/posterior pattern specification GO:0009952 10.06 GLI2 GLI3 HOXD13 PCSK5 SHH ZIC3
25 limb development GO:0060173 10.05 CHD7 GLI3 SALL1 SHH
26 branching involved in salivary gland morphogenesis GO:0060445 10.03 SHH FGF8
27 artery development GO:0060840 10.03 SHH GLI3
28 positive regulation of alpha-beta T cell differentiation GO:0046638 10.03 SHH GLI3
29 forebrain development GO:0030900 10.03 ZIC3 SHH GLI3
30 embryonic foregut morphogenesis GO:0048617 10.03 FOXF1 SHH
31 embryonic neurocranium morphogenesis GO:0048702 10.02 GLI3 FGF8
32 alpha-beta T cell differentiation GO:0046632 10.02 SHH GLI3
33 camera-type eye development GO:0043010 10.02 CHD7 GLI3 SHH
34 lung lobe morphogenesis GO:0060463 10.01 SHH FOXF1
35 forebrain dorsal/ventral pattern formation GO:0021798 10.01 GLI3 FGF8
36 embryonic limb morphogenesis GO:0030326 10.01 SHH HOXD13 GLI3
37 hindgut morphogenesis GO:0007442 10.01 GLI2 GLI3 SHH
38 cerebellar cortex morphogenesis GO:0021696 10 GLI1 GLI2
39 prostate gland development GO:0030850 10 GLI1 HOXD13 SHH
40 olfactory nerve development GO:0021553 9.99 CHD7 SALL1
41 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.99 GLI2 GLI3
42 negative regulation of alpha-beta T cell differentiation GO:0046639 9.99 GLI3 SHH
43 pattern specification process GO:0007389 9.98 ZIC3 SHH HOXD13 GLI3 GLI2
44 respiratory tube development GO:0030323 9.97 SHH PCSK5 FOXF1
45 dorsal/ventral pattern formation GO:0009953 9.97 SHH GLI3 GLI2 GLI1 FGF8
46 larynx morphogenesis GO:0120223 9.95 FGF8 GLI3
47 negative regulation of hh target transcription factor activity GO:1990787 9.95 GLI3 GLI2 GLI1
48 ventral midline development GO:0007418 9.95 GLI1 GLI2 SHH
49 spinal cord motor neuron differentiation GO:0021522 9.94 SHH GLI3 GLI2
50 lung morphogenesis GO:0060425 9.93 SHH FOXF1 FGF8

Molecular functions related to Vacterl Association according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.21 ZIC3 SALL1 MNX1 HOXD13 GLI3 GLI2
2 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.11 CHD7 FOXF1 FOXL1 GLI1 GLI2 GLI3
3 DNA-binding transcription factor activity GO:0003700 10.06 ZIC3 HOXD13 GLI3 GLI2 FOXL1 FOXF1
4 sequence-specific DNA binding GO:0043565 9.65 ZIC3 GLI3 GLI2 GLI1 FOXL1 FOXF1
5 DNA binding GO:0003677 9.55 ZIC3 SALL1 MNX1 HOXD13 GLI3 GLI2

Sources for Vacterl Association

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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