Gastrulation

Pathway network for the Gastrulation SuperPath

Sources:

Reactome
WikiPathways

Pathways in the Gastrulation SuperPath

#	Name	Source	Genes
1	Gastrulation	Reactome	ADRM1 BMP4 CREBBP CTNNB1 CXCR4 DLL1 DLL3 DLX5 EOMES EP300 EPHA4 FGF2 FGF4 FGF8 FGFR1 FOXA1 FOXA2 FOXC1 FOXC2 FOXF1 FOXH1 GATA4 GATA6 GBX2 GSC HES7 IHH KAT2A KAT2B LEF1 LFNG LHX1 MAML1 MAML2 MAML3 MAMLD1 MESP2 MIXL1 MSGN1 MSX1 MYB NANOG NOG NOTCH1 NOTO OSR1 OTX2 PAX2 PAX3 PAX6 PAX7 PAX8 POU3F1 POU5F1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBPJ RIPPLY2 SEM1 SHH SMAD2 SMAD3 SMAD4 SNAI1 SNW1 SOX1 SOX17 SOX2 TBPL2 TBX6 TBXT TCF7 TCF7L1 TCF7L2 TEAD2 TEAD4 TFAP2A TFAP2B TFAP2C TRIM33 WNT3A YAP1 ZEB2 ZIC1 ZIC2 ZNF521 (see all 114) (see less)
2	Formation of paraxial mesoderm	Reactome	ADRM1 BMP4 CREBBP CTNNB1 DLL1 DLL3 EP300 EPHA4 FGFR1 HES7 KAT2A KAT2B LEF1 LFNG MAML1 MAML2 MAML3 MAMLD1 MESP2 MSGN1 NOG NOTCH1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBPJ RIPPLY2 SEM1 SNW1 TBX6 TBXT WNT3A (see all 59) (see less)
3	Somitogenesis	Reactome	ADRM1 CTNNB1 DLL1 DLL3 EPHA4 HES7 LEF1 LFNG MESP2 MSGN1 NOTCH1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBPJ RIPPLY2 SEM1 TBX6 (see all 45) (see less)
4	Germ layer formation at gastrulation	Reactome	BMP4 CTNNB1 EOMES FOXH1 GSC LEF1 MIXL1 NANOG POU5F1 SMAD2 SMAD3 SMAD4 SOX2 TBPL2 TBXT TCF7 TRIM33 (see all 17) (see less)
5	Specification of the neural plate border	Reactome	BMP4 CTNNB1 DLX5 FGF4 GBX2 MSX1 MYB PAX3 PAX7 POU5F1 SOX2 TCF7L1 TFAP2A TFAP2B TFAP2C WNT3A ZIC1 (see all 17) (see less)
6	Formation of definitive endoderm	Reactome	CTNNB1 CXCR4 EOMES FOXA2 GATA4 GATA6 GSC MIXL1 SMAD2 SMAD3 SMAD4 SOX17 TBXT TCF7L2 (see all 14) (see less)
7	Formation of axial mesoderm	Reactome	CTNNB1 FOXA1 FOXA2 FOXH1 LEF1 NOTO SHH SMAD2 SMAD3 TBXT TCF7 TEAD2 TEAD4 YAP1 (see all 14) (see less)
8	Gene regulatory network modelling somitogenesis	WikiPathways	DLL1 EPHA4 FGF8 HES1 HES7 LFNG MESP2 NOTCH1 RIPPLY2 TBX6 WNT3A (see all 11) (see less)
9	Formation of the anterior neural plate	Reactome	GBX2 NANOG OTX2 PAX6 POU3F1 POU5F1 SOX1 SOX2 ZEB2 ZIC2 ZNF521 (see all 11) (see less)
10	Formation of the posterior neural plate	Reactome	FGF8 GBX2 OTX2 POU3F1 SOX1 SOX2 TBX6 WNT3A ZEB2 ZNF521 (see all 10) (see less)
11	Somitogenesis in the context of spondylocostal dysostosis	WikiPathways	DLL1 DLL3 EPHA4 HES7 LFNG MESP2 NOTCH1 RIPPLY2 TBX6 (see all 9) (see less)
12	Formation of lateral plate mesoderm	Reactome	BMP4 FOXF1 GATA4 IHH SHH
13	Epithelial-Mesenchymal Transition (EMT) during gastrulation	Reactome	EOMES FGFR1 SNAI1 TBXT

Gene overlap in member pathways for Gastrulation SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	CTNNB1	Catenin Beta 1	Protein Coding	7
2	TBXT	T-Box Transcription Factor T	Protein Coding	6
3	TBX6	T-Box Transcription Factor 6	Protein Coding	6
4	RIPPLY2	Ripply Transcriptional Repressor 2	Protein Coding	5
5	MESP2	Mesoderm Posterior BHLH Transcription Factor 2	Protein Coding	5
6	EPHA4	EPH Receptor A4	Protein Coding	5
7	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	5
8	LFNG	LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase	Protein Coding	5
9	NOTCH1	Notch Receptor 1	Protein Coding	5
10	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	5
11	BMP4	Bone Morphogenetic Protein 4	Protein Coding	5
12	SOX2	SRY-Box Transcription Factor 2	Protein Coding	5
13	HES7	Hes Family BHLH Transcription Factor 7	Protein Coding	5
14	WNT3A	Wnt Family Member 3A	Protein Coding	5
15	DLL3	Delta Like Canonical Notch Ligand 3	Protein Coding	4
16	GBX2	Gastrulation Brain Homeobox 2	Protein Coding	4
17	SMAD2	SMAD Family Member 2	Protein Coding	4
18	SMAD3	SMAD Family Member 3	Protein Coding	4
19	POU5F1	POU Class 5 Homeobox 1	Protein Coding	4
20	EOMES	Eomesodermin	Protein Coding	4
21	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	3
22	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	3
23	GSC	Goosecoid Homeobox	Protein Coding	3
24	FGF8	Fibroblast Growth Factor 8	Protein Coding	3
25	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	3
26	ZNF521	Zinc Finger Protein 521	Protein Coding	3
27	GATA4	GATA Binding Protein 4	Protein Coding	3
28	FOXA2	Forkhead Box A2	Protein Coding	3
29	MSGN1	Mesogenin 1	Protein Coding	3
30	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	3
31	SMAD4	SMAD Family Member 4	Protein Coding	3
32	OTX2	Orthodenticle Homeobox 2	Protein Coding	3
33	POU3F1	POU Class 3 Homeobox 1	Protein Coding	3
34	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	3
35	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	3
36	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	3
37	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	3
38	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	3
39	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	3
40	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	3
41	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	3
42	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	3
43	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	3
44	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	3
45	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	3
46	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	3
47	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	3
48	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	3
49	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	3
50	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	3
51	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	3
52	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	3
53	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	3
54	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	3
55	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	3
56	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	3
57	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	3
58	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	3
59	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	3
60	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	3
61	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	3
62	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	3
63	SOX1	SRY-Box Transcription Factor 1	Protein Coding	3
64	TCF7	Transcription Factor 7	Protein Coding	3
65	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	3
66	NANOG	Nanog Homeobox	Protein Coding	3
67	MIXL1	Mix Paired-Like Homeobox	Protein Coding	3
68	FOXH1	Forkhead Box H1	Protein Coding	3
69	ZEB2	Zinc Finger E-Box Binding Homeobox 2	Protein Coding	3
70	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	3
71	MAMLD1	Mastermind Like Domain Containing 1	Protein Coding	2
72	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	2
73	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	2
74	DLX5	Distal-Less Homeobox 5	Protein Coding	2
75	EP300	EP300 Lysine Acetyltransferase	Protein Coding	2
76	FGF4	Fibroblast Growth Factor 4	Protein Coding	2
77	SNW1	SNW Domain Containing 1	Protein Coding	2
78	FOXF1	Forkhead Box F1	Protein Coding	2
79	GATA6	GATA Binding Protein 6	Protein Coding	2
80	KAT2A	Lysine Acetyltransferase 2A	Protein Coding	2
81	FOXA1	Forkhead Box A1	Protein Coding	2
82	NOTO	Notochord Homeobox	Protein Coding	2
83	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	2
84	TBPL2	TATA-Box Binding Protein Like 2	Protein Coding	2
85	MSX1	Msh Homeobox 1	Protein Coding	2
86	MYB	MYB Proto-Oncogene, Transcription Factor	Protein Coding	2
87	PAX3	Paired Box 3	Protein Coding	2
88	PAX6	Paired Box 6	Protein Coding	2
89	PAX7	Paired Box 7	Protein Coding	2
90	TRIM33	Tripartite Motif Containing 33	Protein Coding	2
91	MAML3	Mastermind Like Transcriptional Coactivator 3	Protein Coding	2
92	SOX17	SRY-Box Transcription Factor 17	Protein Coding	2
93	SNAI1	Snail Family Transcriptional Repressor 1	Protein Coding	2
94	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	2
95	TEAD4	TEA Domain Transcription Factor 4	Protein Coding	2
96	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	2
97	TFAP2B	Transcription Factor AP-2 Beta	Protein Coding	2
98	TFAP2C	Transcription Factor AP-2 Gamma	Protein Coding	2
99	ZIC1	Zic Family Zinc Finger 1	Protein Coding	2
100	ZIC2	Zic Family Zinc Finger 2	Protein Coding	2
101	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	2
102	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	2
103	MAML2	Mastermind Like Transcriptional Coactivator 2	Protein Coding	2
104	TEAD2	TEA Domain Transcription Factor 2	Protein Coding	2
105	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	2
106	NOG	Noggin	Protein Coding	2
107	MAML1	Mastermind Like Transcriptional Coactivator 1	Protein Coding	2
108	OSR1	Odd-Skipped Related Transcription Factor 1	Protein Coding	1
109	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
110	FOXC1	Forkhead Box C1	Protein Coding	1
111	FOXC2	Forkhead Box C2	Protein Coding	1
112	LHX1	LIM Homeobox 1	Protein Coding	1
113	PAX2	Paired Box 2	Protein Coding	1
114	PAX8	Paired Box 8	Protein Coding	1
115	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	1

Disorders associated with Gastrulation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Spondylocostal dysostosis, autosomal recessive	Enrichment	DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6	16.00
2	Microform holoprosencephaly	Enrichment	DLL1, FGF8, FGFR1, FOXH1, SHH, ZIC2	8.64
3	Lobar holoprosencephaly	Enrichment	DLL1, FGF8, FGFR1, FOXH1, SHH, ZIC2	8.64
4	Semilobar holoprosencephaly	Enrichment	DLL1, FGF8, FGFR1, FOXH1, SHH, ZIC2	8.28
5	Septopreoptic holoprosencephaly	Enrichment	DLL1, FGF8, FOXH1, SHH, ZIC2	6.97
6	Midline interhemispheric variant of holoprosencephaly	Enrichment	DLL1, FGF8, FOXH1, SHH, ZIC2	6.97
7	Alobar holoprosencephaly	Enrichment	DLL1, FGF8, FOXH1, SHH, ZIC2	6.66
8	Macs syndrome	Enrichment	OTX2, PAX6, SOX2	6.35
9	Microphthalmia	Enrichment	OTX2, PAX6, SOX2	6.22
10	Spondylocostal dysostosis 5	Enrichment	MESP2, TBX6	5.93
11	Septooptic dysplasia	Enrichment	FGFR1, OTX2, SHH, SOX2	5.65
12	Holoprosencephaly	Enrichment	FGF8, FGFR1, ZIC2	5.24
13	Congenital heart defects, multiple types, 4	Enrichment	GATA4, GATA6	5.01
14	Spondylocostal dysostosis 1, autosomal recessive	Enrichment	DLL3, MESP2	4.96
15	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SMAD2, SMAD3, SMAD4	4.95
16	Holoprosencephaly 1	Enrichment	FGF8, FGFR1, ZIC2	4.94
17	Rhabdomyosarcoma 2	Enrichment	PAX3, PAX7	4.83
18	Gallbladder cancer	Enrichment	CTNNB1, SMAD4	4.68
19	Nanophthalmos	Enrichment	OTX2, SOX2	4.57
20	Loeys-dietz syndrome	Enrichment	SMAD2, SMAD3	4.45
21	Peters-plus syndrome	Enrichment	BMP4, FOXC1, PAX6	4.18
22	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4, SMAD3	4.05
23	Cleft lip/palate	Enrichment	BMP4, MSX1	3.88
24	Patent foramen ovale	Enrichment	GATA4, GATA6	3.82
25	Microphthalmia/coloboma 12	Enrichment	PAX2, PAX6, YAP1	3.81
26	Adams-oliver syndrome	Enrichment	NOTCH1, RBPJ	3.65
27	Coloboma of macula	Enrichment	PAX2, PAX6, YAP1	3.61
28	Familial atrial fibrillation	Enrichment	GATA4, GATA6	3.57
29	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	3.56
30	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	3.56
31	Osteoglophonic dysplasia	Enrichment	FGFR1	3.53
32	Trigonocephaly 1	Enrichment	FGFR1	3.53
33	Sacral agenesis with vertebral anomalies	Enrichment	TBXT	3.53
34	Hartsfield syndrome	Enrichment	FGFR1	3.53
35	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	Enrichment	TBXT	3.53
36	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	3.53
37	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Enrichment	EOMES	3.53
38	Tetralogy of fallot	Enrichment	GATA4, GATA6	3.50
39	Holoprosencephaly 3	Enrichment	SHH	3.43
40	Microphthalmia/coloboma 5	Enrichment	SHH	3.43
41	Atrioventricular septal defect 4	Enrichment	GATA4	3.43
42	Microphthalmia, syndromic 6	Enrichment	BMP4	3.43
43	Orofacial cleft 11	Enrichment	BMP4	3.43
44	Acrocapitofemoral dysplasia	Enrichment	IHH	3.43
45	Atrial septal defect 2	Enrichment	GATA4	3.43
46	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	3.43
47	8p23.1 microdeletion syndrome	Enrichment	GATA4	3.43
48	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	3.43
49	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	3.43
50	Atresia of urethra	Enrichment	FOXF1	3.43
51	Pfeiffer syndrome	Enrichment	FGFR1	3.23
52	Jackson-weiss syndrome	Enrichment	FGFR1	3.23
53	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1	3.23
54	Rosette-forming glioneuronal tumor	Enrichment	FGFR1	3.23
55	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	3.23
56	Spondylocostal dysostosis 3, autosomal recessive	Enrichment	LFNG	3.18
57	Autosomal dominant spondylocostal dysostosis	Enrichment	TBX6	3.18
58	Aniridia	Enrichment	FOXC1, PAX6	3.16
59	Solitary median maxillary central incisor	Enrichment	SHH	3.13
60	Pyloric stenosis, infantile hypertrophic, 5	Enrichment	FOXF1	3.13
61	46,xy sex reversal 3	Enrichment	GATA4	3.13
62	Isolated radial hemimelia	Enrichment	SHH	3.13
63	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	FOXF1	3.13
64	Microphthalmia, syndromic 5	Enrichment	OTX2	3.13
65	Pituitary hormone deficiency, combined, 6	Enrichment	OTX2	3.13
66	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	3.13
67	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	3.05
68	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	3.05
69	Developmental dysplasia of the hip 1	Enrichment	PSMC3, TRIM33	2.99
70	Split-hand/foot malformation 1	Enrichment	DLX5, LEF1	2.99
71	Anterior segment dysgenesis 5	Enrichment	BMP4, PAX6	2.99
72	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	Enrichment	GSC	2.99
73	Vesicoureteral reflux 3	Enrichment	SOX17	2.99
74	Whim syndrome 1	Enrichment	CXCR4	2.99
75	Atrioventricular septal defect 5	Enrichment	GATA6	2.99
76	Loeys-dietz syndrome 6	Enrichment	SMAD2	2.99
77	Atrial septal defect 9	Enrichment	GATA6	2.99
78	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	2.99
79	Adenoid ameloblastoma	Enrichment	CTNNB1	2.99
80	Heritable thoracic aortic disease	Enrichment	SMAD4	2.99
81	Pulmonary hypertension, primary, 7	Enrichment	SOX17	2.99
82	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	2.99
83	Microcystic stromal tumor	Enrichment	CTNNB1	2.99
84	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	2.99
85	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	2.99
86	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	2.99
87	Brachydactyly, type a1	Enrichment	IHH	2.96
88	Syndactyly, type iv	Enrichment	SHH	2.96
89	Alveolar capillary dysplasia with misalignment of pulmonary veins	Enrichment	FOXF1	2.96
90	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	2.96
91	Chordoma	Enrichment	TBXT	2.93
92	Developmental dysplasia of the hip 4	Enrichment	TRIM33	2.90
93	Dislocation of the hip-dysmorphism syndrome	Enrichment	TRIM33	2.90
94	Craniofacial-deafness-hand syndrome	Enrichment	PAX3	2.90
95	Waardenburg syndrome, type 3	Enrichment	PAX3	2.90
96	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	Enrichment	DLX5	2.90
97	Char syndrome	Enrichment	TFAP2B	2.90
98	Craniosynostosis 6	Enrichment	ZIC1	2.90
99	Congenital myopathy 19	Enrichment	PAX7	2.90
100	Structural brain anomalies with impaired intellectual development and craniosynostosis	Enrichment	ZIC1	2.90
101	Patent ductus arteriosus 2	Enrichment	TFAP2B	2.90
102	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	2.90
103	Split hand-foot malformation 1 with sensorineural hearing loss	Enrichment	DLX5	2.90
104	Spondylocostal dysostosis 2, autosomal recessive	Enrichment	MESP2	2.88
105	Adams-oliver syndrome 5	Enrichment	NOTCH1	2.88
106	Spondylocostal dysostosis 4, autosomal recessive	Enrichment	HES7	2.88
107	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Enrichment	DLL1	2.88
108	Spondylocostal dysostosis 6, autosomal recessive	Enrichment	RIPPLY2	2.88
109	Polydactyly, preaxial ii	Enrichment	SHH	2.83
110	Schizencephaly	Enrichment	SHH	2.83
111	Vacterl association	Enrichment	FOXF1	2.83
112	Transposition of the great arteries	Enrichment	GATA4	2.83
113	Primary hypereosinophilic syndrome	Enrichment	FGFR1	2.83
114	Mowat-wilson syndrome	Enrichment	ZEB2	2.83
115	Agnathia-otocephaly complex	Enrichment	OTX2	2.83
116	Keratitis, hereditary	Enrichment	PAX6	2.79
117	Foveal hypoplasia 1	Enrichment	PAX6	2.79
118	Holoprosencephaly 5	Enrichment	ZIC2	2.79
119	Optic nerve hypoplasia, bilateral	Enrichment	PAX6	2.79
120	Vater/vacterl association	Enrichment	FOXF1	2.73
121	Ventricular septal defect 1	Enrichment	GATA4	2.73
122	Rare genetic intellectual disability	Enrichment	CREBBP, EP300	2.73
123	Isolated split hand-split foot malformation	Enrichment	DLX5, SEM1	2.72
124	Combined pituitary hormone deficiency	Enrichment	FOXA2, OTX2	2.72
125	Klippel-feil syndrome 2	Enrichment	RIPPLY2	2.70
126	Leukodystrophy and acquired microcephaly with or without dystonia	Enrichment	DLL3	2.70
127	Keratoacanthoma	Enrichment	NOTCH1	2.70
128	Pilomyxoid astrocytoma	Enrichment	FGFR1	2.69
129	Myhre syndrome	Enrichment	SMAD4	2.69
130	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.69
131	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	2.69
132	Loeys-dietz syndrome 3	Enrichment	SMAD3	2.69
133	Neutropenia, severe congenital, 8, autosomal dominant	Enrichment	GATA6	2.69
134	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.69
135	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.69
136	Teratoma	Enrichment	CTNNB1	2.69
137	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	2.69
138	Split hand-foot malformation	Enrichment	LEF1	2.69
139	Osteoporosis, juvenile	Enrichment	WNT3A	2.66
140	Butterfly-shaped pigment dystrophy	Enrichment	OTX2	2.66
141	Gillespie syndrome	Enrichment	PAX6	2.61
142	Orofacial cleft 5	Enrichment	MSX1	2.60
143	Witkop syndrome	Enrichment	MSX1	2.60
144	Acute basophilic leukemia	Enrichment	MYB	2.60
145	Angiocentric glioma	Enrichment	MYB	2.60
146	Esotropia	Enrichment	TFAP2A	2.60
147	Isolated dandy-walker malformation with hydrocephalus	Enrichment	ZIC1	2.60
148	Lens subluxation	Enrichment	TFAP2A	2.60
149	Familial patent arterial duct	Enrichment	TFAP2B	2.60
150	Klippel-feil syndrome 2, autosomal recessive	Enrichment	RIPPLY2	2.58
151	Hypogonadotropic hypogonadism	Enrichment	FGFR1	2.58
152	Microphthalmia, syndromic 3	Enrichment	SOX2	2.53
153	Cat eye syndrome	Enrichment	PAX6, TFAP2A	2.52
154	Desmoid disease, hereditary	Enrichment	CTNNB1	2.51
155	Juvenile polyposis syndrome	Enrichment	SMAD4	2.51
156	Heart defects, congenital, and other congenital anomalies	Enrichment	GATA6	2.51
157	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	2.51
158	Anus, imperforate	Enrichment	CTNNB1	2.51
159	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	2.51
160	Desmoid tumor	Enrichment	CTNNB1	2.51
161	Loeys-dietz syndrome 1	Enrichment	SMAD2	2.51
162	Familial vesicoureteral reflux	Enrichment	SOX17	2.51
163	Congenital nervous system abnormality	Enrichment	ZEB2, ZIC2	2.50
164	Nervous system disease	Enrichment	ZEB2, ZIC2	2.50
165	Aniridia 1	Enrichment	PAX6	2.49
166	Eyelid coloboma	Enrichment	PAX6	2.49
167	Lens coloboma	Enrichment	PAX6	2.49
168	Ventricular septal defect	Enrichment	FOXF1	2.48
169	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	2.48
170	Stankiewicz-isidor syndrome	Enrichment	PSMD12	2.48
171	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	2.48
172	Colorectal cancer	Enrichment	CTNNB1, SMAD4	2.45
173	Stickler syndrome	Enrichment	BMP4	2.43
174	Adenoid cystic carcinoma	Enrichment	MYB	2.43
175	Isolated dandy-walker malformation without hydrocephalus	Enrichment	ZIC1	2.43
176	Neural tube defects	Enrichment	TBXT	2.42
177	Coloboma of choroid and retina	Enrichment	PAX6	2.39
178	Pilomatrixoma	Enrichment	CTNNB1	2.38
179	Alazami syndrome	Enrichment	CTNNB1	2.38
180	Aortic aneurysm	Enrichment	SMAD3	2.38
181	Craniopharyngioma	Enrichment	CTNNB1	2.38
182	Middle aortic syndrome	Enrichment	GATA6	2.38
183	Malignant epithelioid hemangioendothelioma	Enrichment	YAP1	2.38
184	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	2.38
185	Stapes ankylosis with broad thumbs and toes	Enrichment	NOG	2.36
186	Tarsal-carpal coalition syndrome	Enrichment	NOG	2.36
187	Brachydactyly, type b2	Enrichment	NOG	2.36
188	Symphalangism, proximal, 1a	Enrichment	NOG	2.36
189	Multiple synostoses syndrome 1	Enrichment	NOG	2.36
190	Hypospadias 2, x-linked	Enrichment	MAMLD1	2.36
191	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.36
192	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.36
193	Menke-hennekam syndrome	Enrichment	CREBBP	2.36
194	46,xy ovotesticular disorder of sex development	Enrichment	MAMLD1	2.36
195	Anxiety	Enrichment	OTX2	2.35
196	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	2.35
197	Gliosarcoma	Enrichment	FGFR1	2.33
198	Scoliosis	Enrichment	CREBBP, TBX6	2.32
199	Coloboma of optic nerve	Enrichment	PAX6	2.31
200	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	PAX6	2.31
201	Branchiooculofacial syndrome	Enrichment	TFAP2A	2.30
202	Non-syndromic bicoronal craniosynostosis	Enrichment	ZIC1	2.30
203	Cleft lip and alveolus	Enrichment	MSX1	2.30
204	Giant cell glioblastoma	Enrichment	FGFR1	2.30
205	Megacolon	Enrichment	ZEB2	2.29
206	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	2.29
207	Persistent truncus arteriosus	Enrichment	GATA6	2.29
208	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	2.29
209	Heart disease	Enrichment	GATA4	2.29
210	46,xy partial gonadal dysgenesis	Enrichment	GATA4	2.29
211	Hypoplastic left heart syndrome	Enrichment	NOTCH1	2.28
212	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGFR1	2.28
213	Melanocytic nevus syndrome, congenital	Enrichment	ZEB2	2.23
214	Weyers acrofacial dysostosis	Enrichment	CTNNB1	2.21
215	Conotruncal heart malformations	Enrichment	GATA6	2.21
216	Adrenocortical carcinoma	Enrichment	CTNNB1	2.21
217	Amblyopia	Enrichment	TFAP2A	2.20
218	Cleft upper lip	Enrichment	MSX1	2.20
219	Tooth agenesis	Enrichment	FGFR1	2.19
220	Heart, malformation of	Enrichment	GATA4	2.18
221	Adams-oliver syndrome 3	Enrichment	RBPJ	2.18
222	Birk-aharoni syndrome	Enrichment	PSMC1	2.18
223	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4	2.18
224	17q24.2 microdeletion syndrome	Enrichment	PSMD12	2.18
225	Kallmann syndrome	Enrichment	FGFR1	2.17
226	Anterior segment dysgenesis	Enrichment	FOXC1, PAX6	2.16
227	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	2.14
228	Branchiootorenal syndrome 1	Enrichment	TFAP2A	2.13
229	Intestinal pseudo-obstruction	Enrichment	TFAP2B	2.13
230	Waardenburg syndrome	Enrichment	PAX3	2.13
231	Exudative vitreoretinopathy	Enrichment	CTNNB1	2.08
232	Hypertelorism and tetralogy of fallot	Enrichment	FOXC1	2.08
233	Pax2-related disorder	Enrichment	PAX2	2.08
234	Aortic valve disease 1	Enrichment	NOTCH1	2.07
235	Thumb deformity	Enrichment	CREBBP	2.06
236	Menke-hennekam syndrome 2	Enrichment	EP300	2.06
237	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.06
238	Proximal symphalangism	Enrichment	NOG	2.06
239	Posterior hypospadias	Enrichment	MAMLD1	2.06
240	X-linked myotubular myopathy-abnormal genitalia syndrome	Enrichment	MAMLD1	2.06
241	Waardenburg syndrome, type 1	Enrichment	PAX3	2.06
242	Branchiootorenal syndrome	Enrichment	TFAP2A	2.06
243	Adult hepatocellular carcinoma	Enrichment	CTNNB1	2.03
244	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	2.03
245	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4	2.00
246	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4	2.00
247	Thyroid hemiagenesis	Enrichment	PSMD3	2.00
248	Hirschsprung disease 1	Enrichment	IHH	1.97
249	Tooth agenesis, selective, 1	Enrichment	MSX1	1.95
250	Heritable pulmonary arterial hypertension	Enrichment	SOX17	1.95
251	Tethered spinal cord syndrome	Enrichment	CREBBP	1.89
252	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.89
253	Diaphragmatic hernia, congenital	Enrichment	GATA6	1.87
254	Pulmonary hypertension, primary, 1	Enrichment	SOX17	1.87
255	Medulloblastoma	Enrichment	CTNNB1	1.84
256	Epicanthus	Enrichment	TFAP2A	1.83
257	Microcephaly	Enrichment	CTNNB1, EP300, PSMC3	1.79
258	Papillorenal syndrome	Enrichment	PAX2	1.78
259	Axenfeld-rieger syndrome, type 3	Enrichment	FOXC1	1.78
260	Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	Enrichment	FOXC1	1.78
261	Lymphedema-distichiasis syndrome	Enrichment	FOXC2	1.78
262	Anterior segment dysgenesis 3	Enrichment	FOXC1	1.78
263	Focal segmental glomerulosclerosis 7	Enrichment	PAX2	1.78
264	Axenfeld-rieger syndrome	Enrichment	FOXC1	1.78
265	Renal hypoplasia, bilateral	Enrichment	PAX2	1.78
266	Multiple synostoses syndrome	Enrichment	NOG	1.76
267	Polycystic liver disease	Enrichment	CTNNB1	1.76
268	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.76
269	Ehlers-danlos syndrome	Enrichment	SMAD3	1.71
270	Patent ductus arteriosus	Enrichment	PSMC3	1.70
271	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GATA4	1.69
272	Connective tissue disease	Enrichment	NOTCH1	1.68
273	Hepatoblastoma	Enrichment	CTNNB1	1.67
274	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.67
275	Hepatocellular carcinoma	Enrichment	CTNNB1	1.65
276	Autism	Enrichment	CREBBP, SHH, TCF7L2	1.64
277	Differentiated thyroid carcinoma	Enrichment	PAX8, TRIM33	1.61
278	Craniosynostosis	Enrichment	TFAP2B	1.61
279	Chromosome 17q12 deletion syndrome	Enrichment	LHX1	1.60
280	Pancreatic cancer	Enrichment	SMAD4	1.59
281	Hypertrichosis	Enrichment	CREBBP	1.59
282	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYB	1.55
283	Bladder cancer	Enrichment	CTNNB1	1.53
284	Polymicrogyria	Enrichment	PSMC3	1.49
285	Autosomal dominant non-syndromic intellectual disability	Enrichment	DLL1	1.49
286	Cakut	Enrichment	FOXC1, PAX2	1.48
287	Charge syndrome	Enrichment	EP300	1.41
288	Juvenile glaucoma	Enrichment	FOXC1	1.38
289	Hypertelorism	Enrichment	PAX6	1.38
290	Type 2 diabetes mellitus	Enrichment	TCF7L2	1.37
291	Gastric cancer	Enrichment	SMAD4	1.36
292	Thrombocytopenia	Enrichment	SMAD4	1.31
293	Congenital anomalies of kidney and urinary tract 1	Enrichment	PAX2	1.31
294	Renal hypoplasia	Enrichment	PAX2	1.31
295	Myeloma, multiple	Enrichment	YAP1	1.25
296	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	PAX8	1.24
297	Polydactyly, postaxial, type a1	Enrichment	EP300	1.20
298	Corpus callosum, agenesis of	Enrichment	CREBBP	1.20
299	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.20
300	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.20
301	Leber plus disease	Enrichment	OTX2	1.17
302	Myocardial infarction	Enrichment	PSMA6	1.15
303	Cystic kidney disease	Enrichment	PAX2	1.14
304	Dilated cardiomyopathy	Enrichment	GATA6	1.10
305	Diffuse large b-cell lymphoma	Enrichment	CREBBP	1.10
306	Rare genetic deafness	Enrichment	PAX3	1.02
307	Congenital hypothyroidism	Enrichment	PAX8	1.02
308	Ovarian cancer	Enrichment	CTNNB1	1.00
309	Complex neurodevelopmental disorder	Enrichment	TCF7L2	0.92
310	Inherited cancer-predisposing syndrome	Enrichment	SMAD4	0.89
311	Focal segmental glomerulosclerosis	Enrichment	PAX2	0.81
312	Hydrops fetalis, nonimmune	Enrichment	FOXC2	0.71
313	Non-immune hydrops fetalis	Enrichment	FOXC2	0.64
314	Genetic steroid-resistant nephrotic syndrome	Enrichment	PAX2	0.60
315	Nephrotic syndrome	Enrichment	PAX2	0.52
316	Hereditary retinal dystrophy	Enrichment	PAX2	0.04
317	Fundus dystrophy	Enrichment	PAX2	0.04

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Gastrulation

Pathway Network for Gastrulation

Pathway network for the Gastrulation SuperPath

Member Pathways for Gastrulation

Pathways in the Gastrulation SuperPath

Gene overlap in member pathways for Gastrulation SuperPath

Associated Genes for Gastrulation

Associated Disorders for Gastrulation

Disorders associated with Gastrulation SuperPath

STRING Interaction Network for Gastrulation

Sources for Gastrulation