MCID: ANS023
MIFTS: 55

Anus, Imperforate

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Anus, Imperforate

MalaCards integrated aliases for Anus, Imperforate:

Name: Anus, Imperforate 56 43 71
Imperforate Anus 12 74 52 29 6 15
Anal Atresia 12 52
Congenital or Infantile Occlusion of Anus 12
Congenital Atresia of Anus 12
Anorectal Malformations 52
Anorectal Malformation 58
Anal Stenosis 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive vs. multifactorial



Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:10488
OMIM 56 207500
MeSH 43 D001006
NCIt 49 C84784
SNOMED-CT 67 14118000
ICD10 32 Q42.3
MESH via Orphanet 44 C537771
UMLS via Orphanet 72 C3495676
Orphanet 58 ORPHA96346
MedGen 41 C0003466
UMLS 71 C0003466

Summaries for Anus, Imperforate

NIH Rare Diseases : 52 Imperforate anus is a birth defect where the opening to the anus is missing or blocked. The anus, also known as the rectum, is the opening at the end of the intestines through which stool (bowel movement) leaves the body. Imperforate anus may end in a pouch, be too narrow (stenotic or atresic), or open into part of the urinary system , female or male reproductive system , or other system of body Symptoms may include absence of the first stool within 24 to 48 hours after birth, no anal opening, anal opening in an abnormal place, stool coming out from the vagina, base of penis , scrotum , or urethra, and/or swollen belly. Although the exact cause of imperforate anus is not fully understood, it is believed to be due to the abnormal development of the rectum when the embryo is forming inside the womb. Many forms of imperforate anus occur with other birth defects . Imperforate anus may also be part of a syndrome with multiple birth defects. Treatment may include colostomy and s urgery to correct the defect. Prognosis depends on the severity and type of imperforate anus and the severity and type of any other birth defects.

MalaCards based summary : Anus, Imperforate, also known as imperforate anus, is related to pallister-hall syndrome and culler-jones syndrome. An important gene associated with Anus, Imperforate is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways are Hedgehog signaling pathway (KEGG) and Hedgehog signaling events mediated by Gli proteins. The drugs leucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and heart, and related phenotypes are hearing impairment and hypospadias

Wikipedia : 74 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

More information from OMIM: 207500

Related Diseases for Anus, Imperforate

Diseases related to Anus, Imperforate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 465)
# Related Disease Score Top Affiliating Genes
1 pallister-hall syndrome 33.4 SHH SALL1 MTHFSD HOXD13 GLI3 GLI2
2 culler-jones syndrome 32.6 GLI3 GLI2
3 omphalocele 31.8 ZIC3 MNX1 GLI3
4 townes-brocks syndrome 31.3 SHH SALL1 HOXD13 GLI3 FREM2 FRAS1
5 polydactyly 31.3 SHH HOXD13 GLI3 GLI2
6 renal hypodysplasia/aplasia 1 31.2 SALL1 FREM2 FRAS1
7 vater/vacterl association 31.2 ZIC3 HOXD13 FOXF1
8 heart septal defect 31.1 ZIC3 CHD7 CFAP47
9 duodenal atresia 31.1 TEF SHH FOXF1
10 intestinal atresia 31.1 TEF MTHFSD FOXF1
11 hemimelia 30.8 GLI3 GLI2
12 bladder exstrophy-epispadias-cloacal exstrophy complex 30.8 SHH PRUNE1
13 apert syndrome 30.8 SHH GLI3 CFAP47
14 vesicoureteral reflux 1 30.7 SALL1 PRUNE1 FREM2 FRAS1 CHD7
15 esophageal atresia/tracheoesophageal fistula 30.7 TEF FANCB CHD7
16 choanal atresia, posterior 30.5 TEF SHH CHD7 CFAP47
17 feingold syndrome 1 30.5 MTHFSD GLI3 FOXF1 CHD7
18 cakut 30.5 SALL1 FREM2 FRAS1
19 charge syndrome 30.5 TEF SHH GLI3 CHD7
20 rectal disease 30.4 TEF SALL1 KIDINS220
21 tetralogy of fallot 30.4 ZIC3 TEF SHH CHD7
22 fraser syndrome 1 30.4 SALL1 FREM2 FRAS1
23 pancreas, annular 30.3 TEF SHH MTHFSD FOXF1
24 patent ductus arteriosus 1 30.2 ZIC3 TEF PTER FOXF1 CHD7 CFAP47
25 chromosome 2q35 duplication syndrome 30.2 SHH SALL1 HOXD13 GLI3 FREM2 FRAS1
26 atrial heart septal defect 30.2 ZIC3 PTER FOXF1 CHD7 CFAP47
27 diaphragmatic hernia, congenital 30.2 TEF SHH GLI3 FREM2 FRAS1 FOXF1
28 holoprosencephaly 30.1 SHH MNX1 GLI3 GLI2
29 anus disease 30.0 TEF SALL1 KIDINS220 GLI3 FREM2
30 oligohydramnios 30.0 PTER PRUNE1 FREM2 FRAS1
31 cleft palate, isolated 30.0 SHH GLI3 GLI2 FREM2 FRAS1
32 vacterl association 29.9 ZIC3 TEF SHH SALL1 MTHFSD HOXD13
33 synostosis 29.9 SHH HOXD13 GLI3 FREM2 FRAS1 CFAP47
34 esophageal atresia 29.8 TEF SHH GLI3 GLI2 FOXF1 FANCB
35 microphthalmia 29.5 SHH SALL1 HOXD13 GLI2 FRAS1 CHD7
36 coloboma of macula 29.4 SHH SALL1 PTER GLI3 FREM2 FRAS1
37 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 12.5
38 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 12.5
39 syndromic anorectal malformation 12.4
40 ankyloblepharon filiforme imperforate anus 12.4
41 chondrodysplasia situs inversus imperforate anus polydactyly 12.4
42 diphallus rachischisis imperforate anus 12.4
43 ankyloblepharon filiforme adnatum-imperforate anus syndrome 12.4
44 spondylocostal dysostosis with anal atresia and urogenital anomalies 12.4
45 cataract-intellectual disability-anal atresia-urinary defects syndrome 12.3
46 opitz-kaveggia syndrome 12.3
47 deafness nephritis anorectal malformation 12.3
48 high isolated anorectal malformation 12.3
49 low isolated anorectal malformation 12.3
50 intermediate isolated anorectal malformation 12.3

Graphical network of the top 20 diseases related to Anus, Imperforate:



Diseases related to Anus, Imperforate

Symptoms & Phenotypes for Anus, Imperforate

Human phenotypes related to Anus, Imperforate:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 hypospadias 31 HP:0000047
3 anal atresia 31 HP:0002023
4 ectopic anus 31 HP:0004397

Symptoms via clinical synopsis from OMIM:

56
G I:
anal atresia

Clinical features from OMIM:

207500

MGI Mouse Phenotypes related to Anus, Imperforate:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 CHD7 FOXF1 FRAS1 FREM2 GLI3 KIDINS220
2 growth/size/body region MP:0005378 10.3 CHD7 FANCB FRAS1 FREM2 GLI2 GLI3
3 cellular MP:0005384 10.26 CHD7 FANCB FRAS1 GLI2 GLI3 KIDINS220
4 mortality/aging MP:0010768 10.24 CHD7 FOXF1 FRAS1 FREM2 GLI2 GLI3
5 embryo MP:0005380 10.22 CHD7 FOXF1 FREM2 GLI2 GLI3 HOXD13
6 digestive/alimentary MP:0005381 10.19 CHD7 FOXF1 FRAS1 GLI2 GLI3 HOXD13
7 craniofacial MP:0005382 10.11 CHD7 FRAS1 FREM2 GLI2 GLI3 MED12
8 limbs/digits/tail MP:0005371 10.1 CHD7 FRAS1 FREM2 GLI2 GLI3 HOXD13
9 nervous system MP:0003631 10 CHD7 FREM2 GLI2 GLI3 KIDINS220 MED12
10 hearing/vestibular/ear MP:0005377 9.98 CHD7 FREM2 GLI2 GLI3 SALL1 SHH
11 muscle MP:0005369 9.87 CHD7 FOXF1 FREM2 GLI2 HOXD13 MNX1
12 respiratory system MP:0005388 9.81 CHD7 FOXF1 FRAS1 FREM2 GLI2 GLI3
13 skeleton MP:0005390 9.7 CHD7 FRAS1 FREM2 GLI2 GLI3 HOXD13
14 vision/eye MP:0005391 9.28 CHD7 FRAS1 FREM2 GLI2 GLI3 HOXD13

Drugs & Therapeutics for Anus, Imperforate

Drugs for Anus, Imperforate (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3 58-05-9 6006 143
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Micronutrients Phase 3
4 Vitamins Phase 3
5 Trace Elements Phase 3
6 Hematinics Phase 3
7 Vitamin B Complex Phase 3
8 Nutrients Phase 3
9 Vitamin B9 Phase 3
10 Folate Phase 3
11
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
12 Hormones Phase 1
13 Calcium, Dietary Phase 1
14
tannic acid Approved 1401-55-4
15
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
16
Remifentanil Approved 132875-61-7 60815
17
Lidocaine Approved, Vet_approved 137-58-6 3676
18
Ropivacaine Approved 84057-95-4 71273 175805
19
Lactulose Approved 4618-18-2 11333
20
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
21
Aspartic acid Approved, Nutraceutical 56-84-8 5960
22 Anesthetics
23 Central Nervous System Depressants
24 Anesthetics, Local
25 Antibiotics, Antitubercular
26 Anti-Bacterial Agents
27 Liver Extracts
28 Hemostatics
29 Chinese Salvia
30 Astragalus
31 N-Methylaspartate
32 diuretics
33 Cola

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Prospective and Randomized Trial Comparing Dopplper-Guided Transanal Hemorrhoid Artery Ligation With Recto-anal Repair (HAL-RAR) Versus Excisional Hemorrhoidectomy for the Treatment of Grade III-IV Hemorrhoids Unknown status NCT02216305 Phase 4
2 NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation Completed NCT03746834 Phase 4
3 Randomized Clinical Trial to Evaluate the Efficacy of High Dose of Folic Acid to Prevent the Occurrence of Congenital Malformations Unknown status NCT01244347 Phase 3 folic acid;folic acid
4 Therapeutic Effect of Stem Cells in Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplasty Unknown status NCT02161003 Phase 1, Phase 2
5 Prevention of Myopia of Prematurity by Calcium Supplementation in a Randomized Controlled Pilot Trial Completed NCT00892476 Phase 1
6 The Effect of Combined General-epidural vs General Anaesthesia on Postoperative Intestinal Function Recovery and Infection in Neonates and Infants Undergoing Gastrointestinal Surgery: a Prospective, Randomised, Controlled Trial Unknown status NCT03056261
7 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
8 National Study on the Quality of Life of Patients With Anorectal Malformation (MARQOL) Completed NCT02029248
9 Paediatric Surgery Across Sub-Saharan Africa: A Multi-Centre Prospective Cohort Study Completed NCT03185637
10 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty in Treatment of Anal Stenosis: A Prospective Randomized Study Completed NCT00883571
11 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Completed NCT02296008
12 Randomized Controlled Trial: Rapid Learning Healthcare System in Pediatric Surgery Completed NCT03131180
13 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571
14 Ligasure™ Versus Diathermy Haemorrhoidectomy Under Spinal or Local Anaesthesia With Ropivacaine. A Randomized Study With One Year Follow-up Completed NCT00617448
15 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Recruiting NCT03666767
16 Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations Recruiting NCT04106947
17 Upper Rectal Artery Embolization in the Treatment of Hemorrhoidal Disease Recruiting NCT03402282
18 Study on the Optimal Strategy for Acute-on-chronic Liver Failure Combined With Traditional Chinese and Modern Medicine: a Multi-center, Randomized and Controlled Study Recruiting NCT03577938 Chinese herbal medicine
19 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty for High and Intermediate Anorectal Malformations : A Comparative Study Not yet recruiting NCT03174028
20 Long-term Outcome in Patients Operated for Congenital Anorectal Malformations Not yet recruiting NCT02624232

Search NIH Clinical Center for Anus, Imperforate

Cochrane evidence based reviews: anus, imperforate

Genetic Tests for Anus, Imperforate

Genetic tests related to Anus, Imperforate:

# Genetic test Affiliating Genes
1 Imperforate Anus 29

Anatomical Context for Anus, Imperforate

MalaCards organs/tissues related to Anus, Imperforate:

40
Colon, Kidney, Heart, Spinal Cord, Pituitary, Liver, Eye

Publications for Anus, Imperforate

Articles related to Anus, Imperforate:

(show top 50) (show all 1396)
# Title Authors PMID Year
1
Familial imperforate anus: Report of a family. 61 56
4852015 1974
2
Imperforate anus and heredity. 61 56
5505692 1970
3
Genetic counseling for fetal gastrointestinal anomalies. 61
32039977 2020
4
Burden of Neonatal Surgical Conditions in Northern Ghana. 61
31583459 2020
5
Goldenhar Syndrome with Imperforate Anus: New Association or Coincidence! 61
31302873 2019
6
[Long-term efficacy analysis of laparoscopic-assisted anorectoplasty for high and middle imperforate anus]. 61
31874535 2019
7
A neonate with imperforate anus and accessory scrotum with scrotal bifida. 61
31843291 2019
8
Decreased expression of TRAAK channels in Hirschsprung's disease: a possible cause of postoperative dysmotility. 61
31542828 2019
9
Relationships between Stigma, Social Support, and Distress in Caregivers of Chinese Children with Imperforate Anus: A Multicenter Cross-Sectional Study. 61
31378408 2019
10
"Tuft Cells": A New Player in Hirschsprung's Disease. 61
31707728 2019
11
Contrast-Enhanced Colosonography for the Evaluation of Children With an Imperforate Anus. 61
30693972 2019
12
A hospital-based birth defects surveillance system in Kampala, Uganda. 61
31640605 2019
13
Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes. 61
31549332 2019
14
Altered ryanodine receptor gene expression in Hirschsprung's disease. 61
31263958 2019
15
Altered expression of caveolin-1 in the colon of patients with Hirschsprung's disease. 61
31256294 2019
16
Primary Posterior Sagittal Anorectoplasty Outcomes for Rectovestibular and Perineal Fistulas Using an Accelerated Pathway: a Single Institution Study. 61
31204055 2019
17
Gastrointestinal disorders in Down syndrome. 61
31183986 2019
18
Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia. 61
31455287 2019
19
Clinical characteristics and conservative treatment of perineal groove. 61
31443920 2019
20
One stage rotation flap scrotoplasty and orchidopexy for the correction of ectopic scrotum: A case report. 61
31061811 2019
21
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. 61
31074124 2019
22
OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program. 61
31042330 2019
23
Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound. 61
30280402 2019
24
Spinal Column Shortening for Secondary Tethered Cord Syndrome in Children: 2-Dimensional Operative Video. 61
30169877 2019
25
Atresia Ani with Imperforate Anus in a Common Marmoset (Callithrix jacchus). 61
30902118 2019
26
Prenatal diagnosis of congenital megalourethra with imperforate anus. 61
31014306 2019
27
A Case of Sirenomelia: A Mermaid Baby. 61
30956482 2019
28
A rare case of laryngeal cleft in association with VACTERL and malrotation. 61
30546815 2019
29
Surgical reconstruction for congenital tracheal malformation and pulmonary artery sling. 61
30823928 2019
30
How to establish a successful bowel management programme in children: a tertiary paediatric centre experience. 61
29725927 2019
31
Altered expression of KCNG3 and KCNG4 in Hirschsprung's disease. 61
30386900 2019
32
Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review. 61
30367985 2019
33
Pallister-Hall Syndrome Presenting in Adolescence. 61
31011455 2019
34
Imperforate Anus and Rectourethral Fistula in a Female. 61
31259139 2019
35
Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease. 61
30386899 2019
36
Sirenomelia in twin pregnancy: A case report and literature review. 61
30572488 2018
37
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. 61
30380203 2018
38
Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report. 61
30486853 2018
39
Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. 61
30095346 2018
40
Isolated Fetal Cardiac Abnormalities: Are They Really Isolated? 61
30510841 2018
41
Laparoscopically Assisted Anorectoplasty for Intermediate-Type Imperforate Anus: Comparison of Surgical Outcomes with the Sacroperineal Approach. 61
30277838 2018
42
Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum. 61
30377551 2018
43
Decreased rectal meconium signal on MRI in fetuses with open spinal dysraphism. 61
30094854 2018
44
Scintigraphic evaluation of colonic transit in children with constipation using 67Ga-citrate. 61
30505222 2018
45
Trisomy 22 with long spina bifida occulta: A case report. 61
30278506 2018
46
Intraoperative anesthetic management of an infant with a bridging bronchus: A case report. 61
30035360 2018
47
Continence after posterior sagittal anorectoplasty for anorectal malformations: comparison of different scores. 61
29370894 2018
48
Successful pregnancy and delivery after simultaneous islet-kidney transplantation. 61
29673064 2018
49
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations. 61
29704291 2018
50
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. 61
29704304 2018

Variations for Anus, Imperforate

ClinVar genetic disease variations for Anus, Imperforate:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCR , GGTLC2 , GNAZ , IGLC1 , IGLL5 , RAB36 , RSPH14 GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)copy number loss Pathogenic 638672 22:22971867-23643138
2 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
3 CTNNB1 NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter)SNV Likely pathogenic 523403 rs1553632357 3:41277912-41277912 3:41236421-41236421
4 SLC9A4 GRCh37/hg19 2q12.1(chr2:103090517-103148433)copy number loss Uncertain significance 638673 2:103090517-103148433
5 TBXAS1 GRCh37/hg19 7q34(chr7:139478979-139550968)copy number gain Uncertain significance 638674 7:139478979-139550968
6 GABRG3 GRCh37/hg19 15q12(chr15:27462869-27544157)copy number gain Uncertain significance 638675 15:27462869-27544157

Expression for Anus, Imperforate

Search GEO for disease gene expression data for Anus, Imperforate.

Pathways for Anus, Imperforate

Pathways related to Anus, Imperforate according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 SHH GLI3 GLI2
2 10.78 SHH GLI3 GLI2
3 10.21 SHH GLI3
4
Show member pathways
10.08 SHH GLI3 GLI2

GO Terms for Anus, Imperforate

Biological processes related to Anus, Imperforate according to GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.28 TEF SHH SALL1 MNX1 HOXD13 GLI3
2 positive regulation of transcription, DNA-templated GO:0045893 10.09 ZIC3 SHH SALL1 MED12 GLI3 GLI2
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 ZIC3 TEF SHH SALL1 MED12 HOXD13
4 in utero embryonic development GO:0001701 9.99 KIDINS220 GLI3 GLI2 FOXF1 CHD7
5 central nervous system development GO:0007417 9.95 ZIC3 SHH GLI3 CHD7
6 kidney development GO:0001822 9.91 SHH SALL1 GLI3 GLI2
7 determination of left/right symmetry GO:0007368 9.88 ZIC3 SHH FOXF1
8 camera-type eye development GO:0043010 9.87 SHH GLI3 CHD7
9 odontogenesis of dentin-containing tooth GO:0042475 9.87 SHH GLI3 GLI2
10 inner ear development GO:0048839 9.85 SHH GLI3 FREM2
11 neural tube development GO:0021915 9.85 MED12 GLI3 GLI2
12 anatomical structure development GO:0048856 9.85 SHH GLI3 GLI2
13 anterior/posterior pattern specification GO:0009952 9.85 ZIC3 SHH HOXD13 GLI3 GLI2
14 branching involved in ureteric bud morphogenesis GO:0001658 9.84 SHH SALL1 GLI3
15 dorsal/ventral pattern formation GO:0009953 9.84 SHH GLI3 GLI2
16 roof of mouth development GO:0060021 9.84 SHH GLI3 FRAS1 CHD7
17 smoothened signaling pathway GO:0007224 9.83 SHH GLI3 GLI2 FOXF1
18 lung development GO:0030324 9.83 ZIC3 SHH GLI3 GLI2 FOXF1
19 embryonic organ development GO:0048568 9.82 SHH MED12 GLI3
20 embryonic limb morphogenesis GO:0030326 9.8 SHH HOXD13 GLI3 FRAS1
21 developmental growth GO:0048589 9.78 SHH GLI3 GLI2
22 limb development GO:0060173 9.78 SHH SALL1 GLI3 CHD7
23 branching morphogenesis of an epithelial tube GO:0048754 9.77 SHH GLI3 GLI2
24 spinal cord motor neuron differentiation GO:0021522 9.76 SHH GLI3 GLI2
25 morphogenesis of an epithelium GO:0002009 9.75 GLI2 FREM2 FRAS1
26 anatomical structure formation involved in morphogenesis GO:0048646 9.74 SHH GLI3 GLI2
27 embryonic digestive tract morphogenesis GO:0048557 9.73 SHH GLI3 FOXF1
28 lung morphogenesis GO:0060425 9.72 SHH FOXF1
29 embryonic morphogenesis GO:0048598 9.72 SHH GLI3
30 hindbrain development GO:0030902 9.72 SHH GLI2
31 male genitalia development GO:0030539 9.72 SHH HOXD13
32 osteoblast development GO:0002076 9.72 SHH GLI2
33 epithelial tube branching involved in lung morphogenesis GO:0060441 9.71 SHH FOXF1
34 dorsal/ventral neural tube patterning GO:0021904 9.71 SHH GLI2
35 renal system development GO:0072001 9.71 SHH FOXF1
36 negative thymic T cell selection GO:0045060 9.71 SHH GLI3
37 positive regulation of alpha-beta T cell differentiation GO:0046638 9.71 SHH GLI3
38 positive regulation of T cell differentiation in thymus GO:0033089 9.7 SHH GLI2
39 embryonic foregut morphogenesis GO:0048617 9.7 SHH FOXF1
40 artery development GO:0060840 9.69 SHH GLI3
41 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.69 GLI3 GLI2
42 prostate gland development GO:0030850 9.69 SHH HOXD13 GLI3
43 lung lobe morphogenesis GO:0060463 9.68 SHH FOXF1
44 respiratory tube development GO:0030323 9.68 SHH FOXF1
45 trachea development GO:0060438 9.66 SHH FOXF1
46 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.65 SHH GLI2
47 negative regulation of alpha-beta T cell differentiation GO:0046639 9.64 SHH GLI3
48 tube development GO:0035295 9.64 GLI3 GLI2
49 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.63 GLI3 GLI2
50 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.63 GLI3 GLI2

Molecular functions related to Anus, Imperforate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 ZIC3 TEF SALL1 MNX1 HOXD13 GLI3
2 chromatin binding GO:0003682 9.77 MED12 HOXD13 GLI3 GLI2 CHD7
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.76 ZIC3 TEF GLI3 FOXF1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 ZIC3 SALL1 HOXD13 GLI3 GLI2 CHD7
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 ZIC3 HOXD13 GLI3 GLI2 FOXF1
6 sequence-specific DNA binding GO:0043565 9.7 ZIC3 TEF MNX1 HOXD13 GLI3 GLI2
7 beta-catenin binding GO:0008013 9.61 SALL1 MED12 GLI3
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 ZIC3 TEF SALL1 MNX1 HOXD13 GLI3
9 DNA-binding transcription factor activity GO:0003700 9.23 ZIC3 TEF SALL1 MNX1 HOXD13 GLI3

Sources for Anus, Imperforate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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