MCID: ANS023
MIFTS: 54

Anus, Imperforate

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Anus, Imperforate

MalaCards integrated aliases for Anus, Imperforate:

Name: Anus, Imperforate 57 44 73
Imperforate Anus 12 76 53 29 6 15
Anal Atresia 12 53 6
Anal Stenosis 53 29
Congenital or Infantile Occlusion of Anus 12
Congenital Atresia of Anus 12
Anorectal Malformations 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. multifactorial


HPO:

32
anus, imperforate:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 207500
Disease Ontology 12 DOID:10488
ICD10 33 Q42.3
MeSH 44 D001006
NCIt 50 C84784
MedGen 42 C0003466
UMLS 73 C0003466

Summaries for Anus, Imperforate

NIH Rare Diseases : 53 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 renal hypodysplasia/aplasia 1 and pallister-hall 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 Folic Acid and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and spinal cord, and related phenotypes are hearing impairment and hypospadias

Wikipedia : 76 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 82)
# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 1 31.8 DSTYK GREB1L SALL1
2 pallister-hall syndrome 31.5 GLI3 SHH
3 meningocele 30.0 MNX1 SATB2
4 esophageal atresia 30.0 GLI3 SHH TEF
5 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 12.2
6 high anorectal malformation 12.2
7 low anorectal malformation 12.2
8 intermediate anorectal malformation 12.2
9 isolated anorectal malformation 12.1
10 spondylocostal dysostosis with anal atresia and urogenital anomalies 12.1
11 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 12.1
12 deafness nephritis anorectal malformation 12.0
13 anal atresia, hypospadias, and penoscrotal inversion 12.0
14 cataract-intellectual disability-anal atresia-urinary defects syndrome 12.0
15 vater/vacterl association 11.5
16 vacterl association 11.5
17 townes-brocks syndrome 1 11.3
18 vacterl association with hydrocephalus 11.1
19 vacterl association, x-linked, with or without hydrocephalus 11.1
20 even-plus syndrome 11.1
21 manitoba oculotrichoanal syndrome 11.1
22 townes-brocks syndrome 11.1
23 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.0
24 karandikar maria kamble syndrome 11.0
25 cat eye syndrome 11.0
26 ritscher-schinzel syndrome 1 11.0
27 fanconi anemia, complementation group b 11.0
28 limb-mammary syndrome 11.0
29 short-rib thoracic dysplasia 3 with or without polydactyly 11.0
30 culler-jones syndrome 11.0
31 short stature wormian bones dextrocardia 11.0
32 axenfeld-rieger syndrome, type 1 11.0
33 toe syndactyly, telecanthus, and anogenital and renal malformations 11.0
34 splenogonadal fusion limb defects micrognatia 11.0
35 tethered spinal cord syndrome 10.5 KIDINS220 MNX1
36 ohdo syndrome 10.4 GLI3 MED12
37 renal hypodysplasia/aplasia 3 10.2 DSTYK GREB1L
38 holoprosencephaly 4 10.1 GLI3 SHH
39 esophagitis 10.1
40 hemifacial microsomia 10.1 SALL1 SATB2
41 tracheoesophageal fistula with or without esophageal atresia 10.1
42 tracheoesophageal fistula 10.1
43 maxillonasal dysplasia, binder type 10.0 SATB2 SHH
44 cloacal exstrophy 10.0 MNX1 SATB2
45 synostosis 9.9
46 urethritis 9.9
47 renal dysplasia 9.9
48 diaphragmatic eventration 9.8 SATB2 TEF
49 cervical rib 9.7
50 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.7

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



Diseases related to Anus, Imperforate

Symptoms & Phenotypes for Anus, Imperforate

Symptoms via clinical synopsis from OMIM:

57
GI:
anal atresia


Clinical features from OMIM:

207500

Human phenotypes related to Anus, Imperforate:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 hypospadias 32 HP:0000047
3 anal atresia 32 HP:0002023
4 ectopic anus 32 HP:0004397

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

26 (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 SALL1 DSTYK MED12
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 SALL1 DSTYK MED12
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 MNX1 PIGV SALL1 SATB2 SHH GLI3
2 cellular MP:0005384 10.01 GLI3 KIDINS220 MED12 MNX1 SALL1 SATB2
3 mortality/aging MP:0010768 9.81 GLI3 KIDINS220 MED12 MNX1 SALL1 SATB2
4 digestive/alimentary MP:0005381 9.8 GLI3 MNX1 PIGV SALL1 SATB2 SHH
5 craniofacial MP:0005382 9.77 GLI3 MED12 PIGV SATB2 SHH
6 limbs/digits/tail MP:0005371 9.65 SALL1 SATB2 SHH GLI3 MED12
7 nervous system MP:0003631 9.61 DSTYK GLI3 KIDINS220 MED12 MNX1 SALL1
8 skeleton MP:0005390 9.17 GLI3 MED12 MNX1 PIGV SALL1 SATB2

Drugs & Therapeutics for Anus, Imperforate

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
2
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
3 Hematinics Phase 3
4 Micronutrients Phase 3,Not Applicable
5 Trace Elements Phase 3,Not Applicable
6 Vitamin B Complex Phase 3
7 Vitamins Phase 3,Not Applicable
8 Folate Nutraceutical Phase 3
9 Vitamin B9 Nutraceutical Phase 3
10 Anesthetics Phase 1, Phase 2,Not Applicable
11
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
12
Remifentanil Approved Not Applicable 132875-61-7 60815
13
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805
14 Pharmaceutical Solutions Not Applicable
15 Anti-Bacterial Agents
16 Antibiotics, Antitubercular
17 Anesthetics, Local Not Applicable
18 Central Nervous System Depressants Not Applicable
19 Peripheral Nervous System Agents Not Applicable
20 lysine Nutraceutical Not Applicable
21 Cola Nutraceutical

Interventional clinical trials:

(show all 14)
# 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 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
3 Randomized Controlled Trial Comparing Transanal Doppler-guided Arterial Ligation With Mucopexy and Stapled Haemorrhoidopexy Completed NCT01240772 Phase 3
4 Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplasty Unknown status NCT02161003 Phase 1, Phase 2
5 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008 Not Applicable
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 Ligasure Versus Diathermy Haemorrhoidectomy Under Local Anesthesia Completed NCT00617448 Not Applicable
12 Multicenter Prospective Trial on Hemorrhoids Recruiting NCT03245086
13 Long-term Outcome in Patients With Anorectal Malformations Not yet recruiting NCT02624232
14 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty Not yet recruiting NCT03174028 Not Applicable

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
2 Anal Stenosis 29

Anatomical Context for Anus, Imperforate

MalaCards organs/tissues related to Anus, Imperforate:

41
Colon, Kidney, Spinal Cord, Skin, Heart, Testis, Uterus

Publications for Anus, Imperforate

Articles related to Anus, Imperforate:

(show top 50) (show all 536)
# Title Authors Year
1
Distance Between the Distal Rectal Pouch and Perineum in Neonates of Low-Birth Weight With Imperforate Anus. ( 29112640 )
2018
2
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed. ( 29416290 )
2018
3
Magnetic resonance imaging (MRI)-assisted laparoscopic anorectoplasty for imperforate anus: a single center experience. ( 27722897 )
2017
4
Neurostimulation for fecal incontinence after correction of repair of imperforate anus. ( 28352637 )
2017
5
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
6
Comparison of Diagnostic Accuracy for the Low-Type Imperforate Anus Between Prone Cross-Table Radiography and Sonography. ( 28407270 )
2017
7
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
8
Sonography for an Imperforate Anus: Approach, Timing of the Examination, and Evaluation of the Type of Imperforate Anus and Associated Anomalies. ( 28480580 )
2017
9
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
10
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
11
Sonographic Determination of Type in a Fetal Imperforate Anus. ( 27151904 )
2016
12
Neonate with Imperforate Anus and Meconium Streak Along the Penile Shaft. ( 27450347 )
2016
13
Laparoscopic-Assisted Anorectal Pull-Through for High Imperforate Anus: 14 Years Experience in a Single Center. ( 26981954 )
2016
14
Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasia. ( 27080330 )
2016
15
Imperforate Anus with Fistula Exiting at the Penile Skin. ( 27134930 )
2016
16
Sacral nerve stimulation in the treatment of bowel dysfunction from imperforate anus: A case report. ( 27236579 )
2016
17
Large retroperitoneal pelvic low-grade mucinous neoplasia 25A years after pull-through operation for imperforate anus. ( 27138641 )
2016
18
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2016
19
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
20
Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. ( 27176040 )
2016
21
Surgical Repair of Imperforate Anus: A Report from Haly Abbas (949-982AD). ( 26651280 )
2016
22
Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report. ( 27896167 )
2016
23
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
24
Handle with care - &amp;quot;bucket handle&amp;quot; imperforate anus. ( 25662829 )
2015
25
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. ( 25746703 )
2015
26
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
27
Postoperative megarectum in an adult patient with imperforate anus and rectourethral fistula. ( 25861490 )
2015
28
Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated. ( 26490998 )
2015
29
Teaching NeuroImages: Short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma? ( 25870458 )
2015
30
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
31
Enterolith causing bladder outlet obstruction in patient with imperforate anus. A rare case presentation. ( 26627524 )
2015
32
Creation of a Neovagina in a Patient with Mayer-Rokitansky-KA1ster-Hauser (MRKH) Syndrome and Previously Corrected Rectovestibular Fistula Concomitant with Imperforate Anus. ( 25444054 )
2015
33
An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. ( 24948350 )
2014
34
Sling left pulmonary artery with patent type IIA tracheobronchial anomaly and imperforate anus. ( 24882045 )
2014
35
Comparison of outcomes between laparoscopy-assisted and posterior sagittal anorectoplasties for male imperforate anus with recto-bulbar fistula. ( 25487490 )
2014
36
More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population. ( 25088160 )
2014
37
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report. ( 25003932 )
2014
38
Hidden mortality of imperforate anus. ( 24647309 )
2014
39
Breast at back passage-neonatal central perineal accessory breast at the site of an imperforate anus. ( 24515240 )
2014
40
Re: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 24703152 )
2014
41
An accessory limb with an imperforate anus. ( 25317418 )
2014
42
Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study. ( 24985112 )
2014
43
Mode of delivery in a woman with previous surgery for imperforate anus. ( 24484400 )
2014
44
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases. ( 24777351 )
2014
45
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). ( 25400352 )
2014
46
Laparoscopy-assisted surgery for male imperforate anus with rectourethral fistula. ( 23989601 )
2013
47
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. ( 24285853 )
2013
48
The hidden mortality of imperforate anus. ( 24469477 )
2013
49
Congenital cardiac anomalies and imperforate anus: A hospital's experience. ( 24023469 )
2013
50
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 22640865 )
2013

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 GRCh37 Chromosome 3, 41277912: 41277912
4 CTNNB1 NM_001098209.1(CTNNB1): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic 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

Cellular components related to Anus, Imperforate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.62 GLI3 MED12

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 GLI3 MED12 SALL1 SHH
2 regulation of gene expression GO:0010468 9.85 GLI3 SATB2 SHH
3 heart development GO:0007507 9.78 GLI3 MED12 SALL1 SHH
4 roof of mouth development GO:0060021 9.69 GLI3 SATB2 SHH
5 dorsal/ventral pattern formation GO:0009953 9.67 GLI3 SHH
6 positive regulation of Wnt signaling pathway GO:0030177 9.67 SALL1 SHH
7 anatomical structure development GO:0048856 9.66 GLI3 SHH
8 oligodendrocyte differentiation GO:0048709 9.65 GLI3 SHH
9 T cell differentiation in thymus GO:0033077 9.65 GLI3 SHH
10 branching morphogenesis of an epithelial tube GO:0048754 9.65 GLI3 SHH
11 neuron fate commitment GO:0048663 9.64 GLI3 SHH
12 positive regulation of protein import into nucleus GO:0042307 9.64 GLI3 SHH
13 developmental growth GO:0048589 9.63 GLI3 SHH
14 embryonic pattern specification GO:0009880 9.63 SATB2 SHH
15 embryonic digit morphogenesis GO:0042733 9.63 GLI3 SALL1 SHH
16 oligodendrocyte development GO:0014003 9.62 MED12 SHH
17 anatomical structure formation involved in morphogenesis GO:0048646 9.62 GLI3 SHH
18 spinal cord motor neuron differentiation GO:0021522 9.61 GLI3 SHH
19 positive regulation of neuroblast proliferation GO:0002052 9.61 GLI3 SHH
20 male genitalia development GO:0030539 9.6 GREB1L SHH
21 embryonic digestive tract morphogenesis GO:0048557 9.59 GLI3 SHH
22 osteoblast development GO:0002076 9.58 SATB2 SHH
23 embryonic digestive tract development GO:0048566 9.58 GLI3 SALL1
24 prostate gland development GO:0030850 9.57 GLI3 SHH
25 embryonic morphogenesis GO:0048598 9.56 GLI3 SHH
26 negative thymic T cell selection GO:0045060 9.55 GLI3 SHH
27 positive regulation of alpha-beta T cell differentiation GO:0046638 9.54 GLI3 SHH
28 limb development GO:0060173 9.54 GLI3 SALL1 SHH
29 embryonic organ development GO:0048568 9.5 GLI3 MED12 SHH
30 artery development GO:0060840 9.49 GLI3 SHH
31 spinal cord dorsal/ventral patterning GO:0021513 9.43 GLI3 SHH
32 hindgut morphogenesis GO:0007442 9.4 GLI3 SHH
33 metanephros development GO:0001656 9.33 GLI3 GREB1L SHH
34 negative regulation of alpha-beta T cell differentiation GO:0046639 9.26 GLI3 SHH
35 kidney development GO:0001822 9.26 GLI3 GREB1L SALL1 SHH
36 branching involved in ureteric bud morphogenesis GO:0001658 8.92 GLI3 GREB1L SALL1 SHH
37 regulation of transcription, DNA-templated GO:0006355 10.21 GLI3 MED12 MNX1 SALL1 SATB2 SHH
38 positive regulation of transcription by RNA polymerase II GO:0045944 10 GLI3 MED12 SALL1 SATB2 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 9.35 GLI3 MNX1 SALL1 SATB2 TEF
2 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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