DGSX
MCID: SMP003
MIFTS: 47

Simpson-Golabi-Behmel Syndrome (DGSX)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

MalaCards integrated aliases for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 53 25 37 29 6
Sgbs1 53 25
Sgbs 53 25
Dysplasia Gigantism Syndrome, X-Linked 53
Mental Retardation-Overgrowth Syndrome 25
Simpson-Golabi-Behmel Syndrome Type 1 25
Syndrome, Simpson-Golabi-Behmel 40
Simpson Dysmorphia Syndrome 53
Simpson Dysplasia Syndrome 25
Golabi-Rosen Syndrome 53
Bulldog Syndrome 53
Simpson Syndrome 25
Dgsx 25
Sdys 25

Characteristics:

HPO:

32
simpson-golabi-behmel syndrome:
Clinical modifier death in infancy


Classifications:



External Ids:

KEGG 37 H01215

Summaries for Simpson-Golabi-Behmel Syndrome

Genetics Home Reference : 25 Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. People with mild cases often live into adulthood. People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as "coarse" in older children and adults with this condition. Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Affected infants may be born with one or more extra nipples, an abnormal opening in the muscle covering the abdomen (diastasis recti), a soft out-pouching around the belly-button (an umbilical hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move into the chest and crowd the developing heart and lungs. Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild to severe intellectual disability, while others have normal intelligence. About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous or noncancerous tumors in early childhood. The most common tumors are a rare form of kidney cancer called Wilms tumor and a cancerous tumor called a neuroblastoma that arises from developing nerve cells.

MalaCards based summary : Simpson-Golabi-Behmel Syndrome, also known as sgbs1, is related to simpson-golabi-behmel syndrome, type 1 and simpson-golabi-behmel syndrome, type 2. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways/superpathways are Thyroid hormone signaling pathway and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include kidney, tongue and heart, and related phenotypes are macrocephaly and hypertelorism

NIH Rare Diseases : 53 Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The severity varies from very mild forms in carrier females to infantile lethal forms in affected males. The infantile lethal form of SGBS is sometimes known as SGBS type 2. People with SGBS typically have distinctive facial features, including a large distance between the eyes (hypertelorism), an unusually wide mouth (macrostomia) with a large tongue (macroglossia), and abnormalities of the roof of the mouth (palate). Other, findings include extra nipples, various birth defects such as a protrusion of the lining of the abdomen through the area around the belly button (umbilical hernia), and skeletal anomalies. Some people with the condition have a mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including a rare type of kidney cancer (Wilms tumor) and cancer of the nerve tissue (neuroblastoma). SGBS can be caused by mutations in the GPC3 and GPC4 genes. Mutations in other genes have been studied, but have in most instances have only been described in one person or one family. In other cases, the cause is unknown. SGBS is inherited in an X-linked manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

KEGG : 37
Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS is type 1, that appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene. SGBS type 2 is a severe variant, that is associated with defects in OFD1.

Wikipedia : 75 Simpson-Golabi-Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause... more...

Related Diseases for Simpson-Golabi-Behmel Syndrome

Diseases in the Simpson-Golabi-Behmel Syndrome family:

Simpson-Golabi-Behmel Syndrome, Type 2 Simpson-Golabi-Behmel Syndrome, Type 1

Diseases related to Simpson-Golabi-Behmel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 1 35.2 GPC4 GPC3
2 simpson-golabi-behmel syndrome, type 2 35.0 PIGA OFD1
3 hepatoblastoma 32.9 GPC3 CTNNB1
4 ohdo syndrome, sbbys variant 12.5
5 blepharophimosis intellectual disability syndromes 12.1
6 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.8
7 genitopatellar syndrome 11.7
8 overgrowth syndrome 11.4
9 cleft palate, isolated 11.0
10 macroglossia 10.9
11 alacrima, achalasia, and mental retardation syndrome 10.9
12 diaphragmatic hernia, congenital 10.9
13 polydactyly 10.9
14 beckwith-wiedemann syndrome 10.8
15 hypertelorism 10.8
16 wilms tumor 5 10.8
17 cryptorchidism, unilateral or bilateral 10.8
18 neuroblastoma 1 10.8
19 gigantism 10.8
20 sotos syndrome 1 10.7
21 fryns syndrome 10.7
22 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.7
23 scoliosis 10.7
24 omphalocele 10.7
25 hypospadias 10.7
26 cleft lip 10.7
27 attention deficit-hyperactivity disorder 10.6
28 medulloblastoma 10.6
29 nipples, supernumerary 10.6
30 joubert syndrome 1 10.6
31 perlman syndrome 10.6
32 sleep apnea 10.6
33 umbilical hernia 10.6
34 craniosynostosis 10.6
35 polyhydramnios 10.6
36 fetal edema 10.6
37 hydrops fetalis 10.6
38 hypotonia 10.6
39 cleft lip/palate 10.6
40 renal dysplasia 10.6
41 apnea, obstructive sleep 10.5
42 hepatocellular carcinoma 10.5
43 marfan syndrome 10.5
44 meckel diverticulum 10.5
45 pectus excavatum 10.5
46 polydactyly, postaxial, type a1 10.5
47 chromosome 2q35 duplication syndrome 10.5
48 pseudovaginal perineoscrotal hypospadias 10.5
49 pulmonic stenosis 10.5
50 orofaciodigital syndrome i 10.5

Graphical network of the top 20 diseases related to Simpson-Golabi-Behmel Syndrome:



Diseases related to Simpson-Golabi-Behmel Syndrome

Symptoms & Phenotypes for Simpson-Golabi-Behmel Syndrome

Human phenotypes related to Simpson-Golabi-Behmel Syndrome:

32 (show top 50) (show all 74)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 hallmark (90%) HP:0000256
2 hypertelorism 32 hallmark (90%) HP:0000316
3 macroglossia 32 hallmark (90%) HP:0000158
4 coarse facial features 32 hallmark (90%) HP:0000280
5 mandibular prognathia 32 hallmark (90%) HP:0000303
6 splenomegaly 32 hallmark (90%) HP:0001744
7 hepatomegaly 32 hallmark (90%) HP:0002240
8 short foot 32 hallmark (90%) HP:0001773
9 cryptorchidism 32 hallmark (90%) HP:0000028
10 short toe 32 hallmark (90%) HP:0001831
11 wide mouth 32 hallmark (90%) HP:0000154
12 multicystic kidney dysplasia 32 hallmark (90%) HP:0000003
13 abnormality of the ribs 32 hallmark (90%) HP:0000772
14 ventricular septal defect 32 hallmark (90%) HP:0001629
15 tall stature 32 hallmark (90%) HP:0000098
16 vertebral fusion 32 hallmark (90%) HP:0002948
17 postaxial hand polydactyly 32 hallmark (90%) HP:0001162
18 supernumerary nipple 32 hallmark (90%) HP:0002558
19 broad foot 32 hallmark (90%) HP:0001769
20 increased circulating total ige level 32 hallmark (90%) HP:0003212
21 short neck 32 frequent (33%) HP:0000470
22 pectus excavatum 32 frequent (33%) HP:0000767
23 finger syndactyly 32 frequent (33%) HP:0006101
24 neurological speech impairment 32 frequent (33%) HP:0002167
25 scoliosis 32 frequent (33%) HP:0002650
26 inguinal hernia 32 frequent (33%) HP:0000023
27 abnormality of the helix 32 frequent (33%) HP:0011039
28 wide nasal bridge 32 frequent (33%) HP:0000431
29 umbilical hernia 32 frequent (33%) HP:0001537
30 short nose 32 frequent (33%) HP:0003196
31 anteverted nares 32 frequent (33%) HP:0000463
32 broad thumb 32 frequent (33%) HP:0011304
33 hypoglycemia 32 frequent (33%) HP:0001943
34 cleft palate 32 frequent (33%) HP:0000175
35 high, narrow palate 32 frequent (33%) HP:0002705
36 aplasia/hypoplasia of the abdominal wall musculature 32 frequent (33%) HP:0010318
37 webbed neck 32 frequent (33%) HP:0000465
38 atrial septal defect 32 frequent (33%) HP:0001631
39 prolonged qt interval 32 frequent (33%) HP:0001657
40 clinodactyly of the 5th finger 32 frequent (33%) HP:0004209
41 small nail 32 frequent (33%) HP:0001792
42 bundle branch block 32 frequent (33%) HP:0011710
43 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
44 polyhydramnios 32 frequent (33%) HP:0001561
45 hydronephrosis 32 frequent (33%) HP:0000126
46 downslanted palpebral fissures 32 frequent (33%) HP:0000494
47 nail dysplasia 32 frequent (33%) HP:0002164
48 camptodactyly of finger 32 frequent (33%) HP:0100490
49 toe syndactyly 32 frequent (33%) HP:0001770
50 hydroureter 32 frequent (33%) HP:0000072

MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.77 CTNNB1 GPC3 MED12 OFD1 PIGA
2 embryo MP:0005380 9.65 CTNNB1 GPC3 MED12 OFD1 PIGA
3 growth/size/body region MP:0005378 9.63 CTNNB1 DPP4 GPC3 MED12 OFD1 PIGA
4 digestive/alimentary MP:0005381 9.62 CTNNB1 GPC3 OFD1 PIGA
5 limbs/digits/tail MP:0005371 9.26 CTNNB1 GPC3 MED12 OFD1
6 skeleton MP:0005390 9.02 CTNNB1 GPC3 MED12 OFD1 PIGA

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

Drugs for Simpson-Golabi-Behmel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Sham-procedure-controlled, Blinded Study to Evaluate the Effectiveness and Acceptability of Right-sided Stellate Ganglion Block for Treatment of Posttraumatic Stress Disorder Symptoms - Acceptability Completed NCT03302312

Search NIH Clinical Center for Simpson-Golabi-Behmel Syndrome

Genetic Tests for Simpson-Golabi-Behmel Syndrome

Genetic tests related to Simpson-Golabi-Behmel Syndrome:

# Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome 29 GPC3 GPC4

Anatomical Context for Simpson-Golabi-Behmel Syndrome

MalaCards organs/tissues related to Simpson-Golabi-Behmel Syndrome:

41
Kidney, Tongue, Heart, Eye, Adipocyte, Liver, Spleen

Publications for Simpson-Golabi-Behmel Syndrome

Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50) (show all 252)
# Title Authors PMID Year
1
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. 38 6
9781908 1998
2
Adipocyte abundances of CES1, CRYAB, ENO1 and GANAB are modified in-vitro by glucose restriction and are associated with cellular remodelling during weight regain. 38
31037987 2019
3
Glucose Restriction Plus Refeeding in Vitro Induce Changes of the Human Adipocyte Secretome with an Impact on Complement Factors and Cathepsins. 38
31434216 2019
4
Open Chromatin Profiling in Adipose Tissue Marks Genomic Regions with Functional Roles in Cardiometabolic Traits. 38
31186305 2019
5
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. 38
31373179 2019
6
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 38
31366608 2019
7
Ameloblastoma associated with syndromes: A systematic review. 38
31336213 2019
8
IL-29 promoted obesity-induced inflammation and insulin resistance. 38
31363171 2019
9
Elevated UCP1 levels are sufficient to improve glucose uptake in human white adipocytes. 38
31382214 2019
10
Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses. 38
31304847 2019
11
Differentiating SGBS adipocytes respond to PPARγ stimulation, irisin and BMP7 by functional browning and beige characteristics. 38
30967578 2019
12
CUGC for Simpson-Golabi-Behmel syndrome (SGBS). 38
30683921 2019
13
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1. 38
30048822 2019
14
Detecting epistasis within chromatin regulatory circuitry reveals CAND2 as a novel susceptibility gene for obesity. 38
29717274 2019
15
Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locus. 38
30445632 2019
16
Antioxidant and Anti-Inflammatory Properties of Nigella sativa Oil in Human Pre-Adipocytes. 38
30823525 2019
17
Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. 38
30667571 2019
18
Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study. 38
30592149 2019
19
Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum. 38
29652239 2019
20
Immunotherapeutic Targeting of GPC3 in Pediatric Solid Embryonal Tumors. 38
30873384 2019
21
In vitro profiling of volatile organic compounds released by Simpson-Golabi-Behmel syndrome adipocytes. 38
30537625 2019
22
miR-107 inhibits CDK6 expression, differentiation, and lipid storage in human adipocytes. 38
30261211 2019
23
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. 38
30447178 2018
24
Synchronous occurrence of multiple distinct jaw lesions in Simpson-Golabi-Behmel Syndrome: A case report. 38
30553040 2018
25
Adipose Tissue Transferrin and Insulin Resistance. 38
30099506 2018
26
Tetrad presentation of non-syndromic odontogenic keratocyst: An uphill diagnostic and therapeutic challenge. 38
30648369 2018
27
For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome. 38
30371035 2018
28
Impact of X-ray Exposure on the Proliferation and Differentiation of Human Pre-Adipocytes. 38
30208657 2018
29
Synthesis and biological evaluations of marine oxohexadecenoic acids: PPARα/γ dual agonism and anti-diabetic target gene effects. 38
29940464 2018
30
Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome. 38
29737011 2018
31
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. 38
30158844 2018
32
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. 38
29637653 2018
33
Extra-adrenal glucocorticoids contribute to the postprandial increase of circulating leptin in mice. 38
28744834 2018
34
Simpson-Golabi-Behmel syndrome human adipocytes reveal a changing phenotype throughout differentiation. 38
29574488 2018
35
Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? 38
29372559 2018
36
Increased Ifi202b/IFI16 expression stimulates adipogenesis in mice and humans. 38
29478099 2018
37
Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome. 38
28746062 2018
38
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome. 38
29240237 2018
39
Hydroxycarboxylic Acid Receptor Ligands Modulate Proinflammatory Cytokine Expression in Human Macrophages and Adipocytes without Affecting Adipose Differentiation. 38
30270326 2018
40
Interferon-gamma released from omental adipose tissue of insulin-resistant humans alters adipocyte phenotype and impairs response to insulin and adiponectin release. 38
28769120 2017
41
Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome". 38
29057530 2017
42
Trail (TNF-related apoptosis-inducing ligand) induces an inflammatory response in human adipocytes. 38
28720906 2017
43
Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation. 38
28428430 2017
44
SGBS cells as a model of human adipocyte browning: A comprehensive comparative study with primary human white subcutaneous adipocytes. 38
28642596 2017
45
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. 38
28600484 2017
46
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. 38
28371070 2017
47
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. 38
28469860 2017
48
A role for the metalloprotease invadolysin in insulin signaling and adipogenesis. 38
27622830 2017
49
Marsupialisation of kerastocystic odontogenic tumours in a patient with Simpson-Golabi-Behmel syndrome. 38
27449335 2017
50
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. 38
27739211 2017

Variations for Simpson-Golabi-Behmel Syndrome

ClinVar genetic disease variations for Simpson-Golabi-Behmel Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GPC3 NM_004484.3(GPC3): c.194_206del (p.Cys65fs) deletion Pathogenic rs869025181 X:133087208-133087220 X:133953181-133953193
2 GPC3 NM_004484.3(GPC3): c.1414_1573del160 (p.Leu472Asnfs) deletion Pathogenic
3 GPC3 NM_004484.3(GPC3): c.886T> A (p.Trp296Arg) single nucleotide variant Pathogenic rs104894854 X:132887655-132887655 X:133753628-133753628
4 GPC3 NM_004484.3(GPC3): c.1292+1G> T single nucleotide variant Pathogenic rs869025182 X:132826396-132826396 X:133692368-133692368
5 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 X:132887946-132887946 X:133753919-133753919
6 GPC3 NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)del deletion Pathogenic X:132795703-132795954 X:133661675-133661926
7 GPC3 NM_004484.3(GPC3): c.337+1G> A single nucleotide variant Pathogenic rs869025183 X:133087076-133087076 X:133953049-133953049
8 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 X:132833930-132833930 X:133699902-133699902
9 GPC3 GRCh37/hg19 Xq26.2(chrX: 132834006-132986815) copy number loss Pathogenic X:132834006-132986815 :0-0
10 subset of 11 genes:FRMD7 ; GPC3 GRCh37/hg19 Xq26.1-26.2(chrX: 130280298-132670366) copy number loss Pathogenic X:130280298-132670366 :0-0
11 GPC3 NM_004484.3(GPC3): c.1692del (p.Leu565fs) deletion Likely pathogenic rs886039908 X:132670203-132670203 X:133536175-133536175
12 GPC3 NM_004484.3(GPC3): c.974C> A (p.Ser325Ter) single nucleotide variant Likely pathogenic X:132887567-132887567 X:133753540-133753540
13 GPC3 NM_004484.3(GPC3): c.1494C> A (p.Cys498Ter) single nucleotide variant Likely pathogenic X:132730547-132730547 X:133596519-133596519
14 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Likely pathogenic rs267606850 X:132670229-132670229 X:133536201-133536201
15 MED12 NM_005120.3(MED12): c.2023C> T (p.Leu675Phe) single nucleotide variant Uncertain significance X:70344662-70344662 X:71124812-71124812
16 GPC3 NM_004484.3(GPC3): c.1568T> C (p.Leu523Pro) single nucleotide variant Uncertain significance rs1015207544 X:132730473-132730473 X:133596445-133596445

Expression for Simpson-Golabi-Behmel Syndrome

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome.

Pathways for Simpson-Golabi-Behmel Syndrome

GO Terms for Simpson-Golabi-Behmel Syndrome

Cellular components related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.7 PIGA OFD1 MED12 GPC4 GPC3 DPP4
2 Golgi lumen GO:0005796 9.26 GPC4 GPC3
3 lysosomal lumen GO:0043202 8.96 GPC4 GPC3
4 anchored component of plasma membrane GO:0046658 8.62 GPC4 GPC3

Biological processes related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.56 GPC3 CTNNB1
2 lung development GO:0030324 9.55 GPC3 CTNNB1
3 canonical Wnt signaling pathway GO:0060070 9.54 MED12 CTNNB1
4 retinoid metabolic process GO:0001523 9.52 GPC4 GPC3
5 stem cell population maintenance GO:0019827 9.51 MED12 CTNNB1
6 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.49 MED12 GPC4
7 branching involved in ureteric bud morphogenesis GO:0001658 9.46 GPC3 CTNNB1
8 regulation of signal transduction GO:0009966 9.43 GPC4 GPC3
9 glycosaminoglycan biosynthetic process GO:0006024 9.4 GPC4 GPC3
10 regulation of canonical Wnt signaling pathway GO:0060828 9.37 GPC3 CTNNB1
11 osteoclast differentiation GO:0030316 9.32 GPC3 CTNNB1
12 embryonic hindlimb morphogenesis GO:0035116 9.26 GPC3 CTNNB1
13 androgen receptor signaling pathway GO:0030521 9.18 CTNNB1
14 glycosaminoglycan catabolic process GO:0006027 9.16 GPC4 GPC3
15 anterior/posterior axis specification GO:0009948 8.96 GPC3 CTNNB1
16 embryonic brain development GO:1990403 8.62 MED12 CTNNB1

Sources for Simpson-Golabi-Behmel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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