MCID: ANS023
MIFTS: 52

Anus, Imperforate

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Anus, Imperforate

MalaCards integrated aliases for Anus, Imperforate:

Name: Anus, Imperforate 58 45 74
Imperforate Anus 12 77 54 30 6 15
Anal Atresia 12 54
Congenital or Infantile Occlusion of Anus 12
Congenital Atresia of Anus 12
Anorectal Malformations 54
Anal Stenosis 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive vs. multifactorial



Classifications:



External Ids:

Disease Ontology 12 DOID:10488
OMIM 58 207500
MeSH 45 D001006
NCIt 51 C84784
SNOMED-CT 69 14118000
ICD10 34 Q42.3
MedGen 43 C0003466
UMLS 74 C0003466

Summaries for Anus, Imperforate

NIH Rare Diseases : 54 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 surgery 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 tethered spinal cord syndrome. An important gene associated with Anus, Imperforate is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways is Tgif disruption of Shh signaling. The drugs leucovorin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include colon, heart and kidney, and related phenotypes are hearing impairment and hypospadias

Wikipedia : 77 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

Description 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 253)
# Related Disease Score Top Affiliating Genes
1 pallister-hall syndrome 33.6 GLI3 SHH
2 tethered spinal cord syndrome 30.6 KIDINS220 MNX1
3 vacterl association 30.5 FOXF1 SHH
4 tracheoesophageal fistula 30.4 GLI3 SHH
5 esophageal atresia 30.3 FOXF1 GLI3 SHH TEF
6 renal hypodysplasia/aplasia 3 30.0 DSTYK GREB1L
7 holoprosencephaly 3 29.3 MNX1 SHH
8 ankyloblepharon filiforme imperforate anus 12.5
9 chondrodysplasia situs inversus imperforate anus polydactyly 12.5
10 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 12.4
11 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 12.4
12 high anorectal malformation 12.4
13 low anorectal malformation 12.4
14 intermediate anorectal malformation 12.3
15 diphallus rachischisis imperforate anus 12.3
16 ankyloblepharon filiforme adnatum-imperforate anus syndrome 12.3
17 spondylocostal dysostosis with anal atresia and urogenital anomalies 12.3
18 deafness nephritis anorectal malformation 12.2
19 isolated anorectal malformation 12.2
20 anal atresia, hypospadias, and penoscrotal inversion 12.2
21 cataract-intellectual disability-anal atresia-urinary defects syndrome 12.2
22 bifid nose with or without anorectal and renal anomalies 12.0
23 oeis complex 11.9
24 blepharocheilodontic syndrome 1 11.8
25 exstrophy of bladder 11.7
26 sirenomelia 11.6
27 anorectal anomalies 11.5
28 opitz-kaveggia syndrome 11.5
29 sacrococcygeal teratoma 11.5
30 townes-brocks syndrome 1 11.5
31 opitz gbbb syndrome, type i 11.4
32 vacterl association with hydrocephalus 11.3
33 vacterl association, x-linked, with or without hydrocephalus 11.3
34 even-plus syndrome 11.3
35 manitoba oculotrichoanal syndrome 11.3
36 townes-brocks syndrome 11.3
37 anorectal stricture 11.2
38 opitz gbbb syndrome, type ii 11.2
39 ivic syndrome 11.2
40 johanson-blizzard syndrome 11.2
41 thymic-renal-anal-lung dysplasia 11.2
42 mental retardation, skeletal dysplasia, and abducens palsy 11.2
43 duane-radial ray syndrome 11.2
44 diarrhea 5, with tufting enteropathy, congenital 11.2
45 townes-brocks syndrome 2 11.2
46 blepharocheilodontic syndrome 2 11.2
47 opitz-gbbb syndrome 11.2
48 chromosome 15q24 deletion syndrome 11.2
49 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.2
50 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.2

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:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 hypospadias 33 HP:0000047
3 anal atresia 33 HP:0002023
4 ectopic anus 33 HP:0004397

Symptoms via clinical synopsis from OMIM:

58
G I:
anal atresia

Clinical features from OMIM:

207500

GenomeRNAi Phenotypes related to Anus, Imperforate according to GeneCards Suite gene sharing:

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.62 MED12
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.62 MED12
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.62 MED12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.62 MED12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.62 DSTYK MED12 SALL1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.62 DSTYK
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.62 SALL1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.62 MED12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.62 SALL1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.62 DSTYK MED12 SALL1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.62 MED12
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.62 SALL1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.62 DSTYK
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.62 MED12
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.62 DSTYK
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.62 MED12

MGI Mouse Phenotypes related to Anus, Imperforate:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 FOXF1 GLI3 GREB1L KIDINS220 MED12 MNX1
2 digestive/alimentary MP:0005381 9.87 FOXF1 GLI3 GREB1L MNX1 PIGV SALL1
3 embryo MP:0005380 9.8 FOXF1 GLI3 GREB1L MED12 SALL1 SHH
4 mortality/aging MP:0010768 9.65 FOXF1 GLI3 GREB1L KIDINS220 MED12 MNX1
5 limbs/digits/tail MP:0005371 9.55 GLI3 MED12 SALL1 SHH SPINT2
6 nervous system MP:0003631 9.32 DSTYK GLI3 GREB1L KIDINS220 MED12 MNX1

Drugs & Therapeutics for Anus, Imperforate

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3,Not Applicable 58-05-9 143 6006
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
3 Vitamins Phase 3,Not Applicable
4 Vitamin B Complex Phase 3,Not Applicable
5 Trace Elements Phase 3,Not Applicable
6 Folate Phase 3,Not Applicable
7 Micronutrients Phase 3,Not Applicable
8 Nutrients Phase 3,Not Applicable
9 Hematinics Phase 3,Not Applicable
10 Vitamin B9 Phase 3,Not Applicable
11 Anesthetics Phase 1, Phase 2,Not Applicable
12
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
13
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
14
Remifentanil Approved Not Applicable 132875-61-7 60815
15
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
16
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
17
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
18
Cobalamin Experimental Not Applicable 13408-78-1 6857388
19 lysine Not Applicable
20 Pharmaceutical Solutions Not Applicable
21 Antibiotics, Antitubercular
22 Anti-Bacterial Agents
23 Central Nervous System Depressants Not Applicable
24 Peripheral Nervous System Agents Not Applicable
25 Anesthetics, Local Not Applicable
26 Vitamin B12 Not Applicable
27 Vitamin B 12 Not Applicable
28 Cola

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 HAL-RAR Versus Hemorrhoidectomy in the Treatment of Grade III-IV Hemorrhoids. Prospective, Randomized Trial 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 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
4 Randomized Controlled Trial Comparing Transanal Doppler-guided Arterial Ligation With Mucopexy and Stapled Haemorrhoidopexy Completed NCT01240772 Phase 3
5 Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplasty Unknown status NCT02161003 Phase 1, Phase 2
6 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
7 National Study on the Quality of Life of Patients With Anorectal Malformation Completed NCT02029248
8 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
9 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty Completed NCT00883571 Not Applicable
10 Children's Surgery in Sub-Saharan Africa Completed NCT03185637
11 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Completed NCT02296008 Not Applicable
12 Ligasure Versus Diathermy Haemorrhoidectomy Under Local Anesthesia Completed NCT00617448 Not Applicable
13 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
14 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable
15 Multicenter Prospective Trial on Hemorrhoids Recruiting NCT03245086
16 Long-term Outcome in Patients With Anorectal Malformations Not yet recruiting NCT02624232
17 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty Not yet recruiting NCT03174028 Not Applicable
18 Thrombosed External Hemorrhoids: Comparison of the Thrombectomy and Local Excision Procedures in Terms of Results and Outcome (TEH) Not yet recruiting NCT03903536

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 30

Anatomical Context for Anus, Imperforate

MalaCards organs/tissues related to Anus, Imperforate:

42
Colon, Heart, Kidney, Spinal Cord, Skin, Eye, Testis

Publications for Anus, Imperforate

Articles related to Anus, Imperforate:

(show top 50) (show all 599)
# Title Authors Year
1
Contrast-Enhanced Colosonography for the Evaluation of Children With an Imperforate Anus. ( 30693972 )
2019
2
Atresia Ani with Imperforate Anus in a Common Marmoset (Callithrix jacchus). ( 30902118 )
2019
3
Prenatal diagnosis of congenital megalourethra with imperforate anus. ( 31014306 )
2019
4
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed. ( 29416290 )
2018
5
Distance Between the Distal Rectal Pouch and Perineum in Neonates of Low-Birth Weight With Imperforate Anus. ( 29112640 )
2018
6
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations. ( 29704291 )
2018
7
Laparoscopically Assisted Anorectoplasty for Intermediate-Type Imperforate Anus: Comparison of Surgical Outcomes with the Sacroperineal Approach. ( 30277838 )
2018
8
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
9
Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex with Genital Anomalies in a Late Preterm Infant. ( 30787756 )
2017
10
Neurostimulation for fecal incontinence after correction of repair of imperforate anus. ( 28352637 )
2017
11
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2017
12
Neonate With Imperforate Anus and Meconium Streak Along the Penile Shaft. ( 27450347 )
2017
13
Magnetic resonance imaging (MRI)-assisted laparoscopic anorectoplasty for imperforate anus: a single center experience. ( 27722897 )
2017
14
Changes in the Distance Between the Distal Rectal Pouch and Perineum From the Birth Day to the Next Day in Neonates With an Imperforate Anus. ( 28127784 )
2017
15
Comparison of Diagnostic Accuracy for the Low-Type Imperforate Anus Between Prone Cross-Table Radiography and Sonography. ( 28407270 )
2017
16
Diagnostic Accuracy of Sonography for Detection of a Fistula on the Birth Day in Neonates With an Imperforate Anus: Comparison of Diagnostic Performance Between Suprapubic and Perineal Approaches. ( 28480562 )
2017
17
Sonography for an Imperforate Anus: Approach, Timing of the Examination, and Evaluation of the Type of Imperforate Anus and Associated Anomalies. ( 28480580 )
2017
18
Is measuring the residual rectourethral fistula during laparoscopically assisted anorectal pull-through for male high/intermediate type imperforate anus beneficial? Mid-term follow-up. ( 28951012 )
2017
19
A child with imperforate anus for twelve years: a case report of neglect and exploitation. ( 29363899 )
2017
20
Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report. ( 27896167 )
2016
21
Vesicostomy and Colostomy in a Premature Neonate With Posterior Urethral Valves, Bilateral Dysplastic Kidneys, and High Imperforate Anus: The Challenge of Stoma Placement. ( 27015939 )
2016
22
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2016
23
Surgical Repair of Imperforate Anus: A Report from Haly Abbas (949-982AD). ( 26651280 )
2016
24
Laparoscopic-Assisted Anorectal Pull-Through for High Imperforate Anus: 14 Years Experience in a Single Center. ( 26981954 )
2016
25
Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasia. ( 27080330 )
2016
26
Imperforate Anus with Fistula Exiting at the Penile Skin. ( 27134930 )
2016
27
Large retroperitoneal pelvic low-grade mucinous neoplasia 25 years after pull-through operation for imperforate anus. ( 27138641 )
2016
28
Sonographic Determination of Type in a Fetal Imperforate Anus. ( 27151904 )
2016
29
Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. ( 27176040 )
2016
30
Sacral nerve stimulation in the treatment of bowel dysfunction from imperforate anus: A case report. ( 27236579 )
2016
31
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
32
Teaching neuroImages: short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma? ( 25870458 )
2015
33
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. ( 26279656 )
2015
34
Creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and previously corrected rectovestibular fistula concomitant with imperforate anus. ( 25444054 )
2015
35
Handle with care--"bucket handle" imperforate anus. ( 25662829 )
2015
36
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. ( 25746703 )
2015
37
Postoperative megarectum in an adult patient with imperforate anus and rectourethral fistula. ( 25861490 )
2015
38
Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated. ( 26490998 )
2015
39
Enterolith causing bladder outlet obstruction in patient with imperforate anus. A rare case presentation. ( 26627524 )
2015
40
An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. ( 24948350 )
2014
41
Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study. ( 24985112 )
2014
42
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). ( 25400352 )
2014
43
Re: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 24703152 )
2014
44
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report. ( 25003932 )
2014
45
Hidden mortality of imperforate anus. ( 24647309 )
2014
46
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases. ( 24777351 )
2014
47
Sling left pulmonary artery with patent type IIA tracheobronchial anomaly and imperforate anus. ( 24882045 )
2014
48
More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population. ( 25088160 )
2014
49
An accessory limb with an imperforate anus. ( 25317418 )
2014
50
Comparison of outcomes between laparoscopy-assisted and posterior sagittal anorectoplasties for male imperforate anus with recto-bulbar fistula. ( 25487490 )
2014

Variations for Anus, Imperforate

ClinVar genetic disease variations for Anus, Imperforate:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
2 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh38 Chromosome X, 71127367: 71127367
3 CTNNB1 NM_001098209.1(CTNNB1): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic rs1553632357 GRCh37 Chromosome 3, 41277912: 41277912
4 CTNNB1 NM_001098209.1(CTNNB1): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic rs1553632357 GRCh38 Chromosome 3, 41236421: 41236421

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 9.58 GLI3 SHH

GO Terms for Anus, Imperforate

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.99 FOXF1 GLI3 MED12 SALL1 SHH
2 in utero embryonic development GO:0001701 9.87 FOXF1 GLI3 KIDINS220
3 lung development GO:0030324 9.79 FOXF1 GLI3 SHH
4 smoothened signaling pathway GO:0007224 9.71 FOXF1 GLI3 SHH
5 neural tube development GO:0021915 9.7 GLI3 MED12
6 dorsal/ventral pattern formation GO:0009953 9.7 GLI3 SHH
7 positive regulation of Wnt signaling pathway GO:0030177 9.7 SALL1 SHH
8 embryonic digit morphogenesis GO:0042733 9.7 GLI3 SALL1 SHH
9 positive regulation of protein import into nucleus GO:0042307 9.69 GLI3 SHH
10 oligodendrocyte differentiation GO:0048709 9.69 GLI3 SHH
11 T cell differentiation in thymus GO:0033077 9.68 GLI3 SHH
12 developmental growth GO:0048589 9.68 GLI3 SHH
13 neuron fate commitment GO:0048663 9.68 GLI3 SHH
14 pancreas development GO:0031016 9.68 FOXF1 SHH
15 branching morphogenesis of an epithelial tube GO:0048754 9.67 GLI3 SHH
16 anatomical structure development GO:0048856 9.67 GLI3 SHH
17 oligodendrocyte development GO:0014003 9.67 MED12 SHH
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.66 FOXF1 SHH
19 anatomical structure formation involved in morphogenesis GO:0048646 9.66 GLI3 SHH
20 renal system development GO:0072001 9.65 FOXF1 SHH
21 positive regulation of neuroblast proliferation GO:0002052 9.65 GLI3 SHH
22 lung morphogenesis GO:0060425 9.64 FOXF1 SHH
23 spinal cord motor neuron differentiation GO:0021522 9.64 GLI3 SHH
24 male genitalia development GO:0030539 9.63 GREB1L SHH
25 epithelial tube branching involved in lung morphogenesis GO:0060441 9.63 FOXF1 SHH
26 limb development GO:0060173 9.63 GLI3 SALL1 SHH
27 embryonic morphogenesis GO:0048598 9.62 GLI3 SHH
28 prostate gland development GO:0030850 9.62 GLI3 SHH
29 kidney development GO:0001822 9.62 GLI3 GREB1L SALL1 SHH
30 negative thymic T cell selection GO:0045060 9.61 GLI3 SHH
31 positive regulation of alpha-beta T cell differentiation GO:0046638 9.6 GLI3 SHH
32 embryonic foregut morphogenesis GO:0048617 9.58 FOXF1 SHH
33 metanephros development GO:0001656 9.58 GLI3 GREB1L SHH
34 artery development GO:0060840 9.57 GLI3 SHH
35 lung lobe morphogenesis GO:0060463 9.56 FOXF1 SHH
36 respiratory tube development GO:0030323 9.55 FOXF1 SHH
37 embryonic organ development GO:0048568 9.54 GLI3 MED12 SHH
38 spinal cord dorsal/ventral patterning GO:0021513 9.51 GLI3 SHH
39 hindgut morphogenesis GO:0007442 9.49 GLI3 SHH
40 trachea development GO:0060438 9.48 FOXF1 SHH
41 negative regulation of alpha-beta T cell differentiation GO:0046639 9.43 GLI3 SHH
42 embryonic digestive tract development GO:0048566 9.43 FOXF1 GLI3 SALL1
43 heart development GO:0007507 9.35 FOXF1 GLI3 MED12 SALL1 SHH
44 embryonic digestive tract morphogenesis GO:0048557 9.33 FOXF1 GLI3 SHH
45 branching involved in ureteric bud morphogenesis GO:0001658 8.92 GLI3 GREB1L SALL1 SHH
46 regulation of transcription, DNA-templated GO:0006355 10.13 FOXF1 GLI3 MNX1 SALL1 SHH TEF
47 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 FOXF1 GLI3 MED12 SALL1 SHH TEF

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.46 FOXF1 GLI3 MNX1 TEF
2 DNA-binding transcription factor activity GO:0003700 9.35 FOXF1 GLI3 MNX1 SALL1 TEF
3 beta-catenin binding GO:0008013 8.8 GLI3 MED12 SALL1

Sources for Anus, Imperforate

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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