Ectoderm differentiation

No Pathway Network information available for Ectoderm differentiation

Pathways in the Ectoderm differentiation SuperPath

#	Name	Source	Genes
1	Ectoderm differentiation	WikiPathways	ABCC4 AHI1 ANKS1B ARHGAP10 ARHGAP15 ARHGDIG ARHGEF9 ARX ASTN1 BAZ1A BCAS3 BCOR BMP4 BMPR1A BOC C1GALT1 CAP2 CCDC88C CCL2 CDH6 CDH8 CDON CELSR2 CLDN11 CLVS1 CTBP1 CTNNA2 CTNNB1 CTNND2 DMD EDA EDA2R ELOVL2 ELOVL4 FGFR2 FHL2 FOXA2 FOXL1 FYN FZD4 FZD5 FZD8 GAS2L1 GATA6 GLB1 GLI3 GRAMD1B GREB1 H2BC9 HDAC10 HDAC6 HESX1 HMGB2 JAKMIP1 JUP KCNK10 KIFC3 KRT6A LDB2 LHX1 LY6E MAFB MECP2 MIR15B MIR34C MIR361 MKS1 MYC MYORG MZF1 NARS2 NF2 NFATC1 NLGN1 NLK NR2F2 NUMA1 OGT PAN2 PAX3 PAX6 PDE7A PGM1 PHF8 PI4KA PIM1 PLCXD3 PLXNA2 PODXL POU2F2 PPARD PPFIBP2 PRKAG2 PTPN13 PTPRB RAB8B RGMA RHPN1 RIT1 ROR2 RRBP1 SCHIP1 SDCBP SERPINB6 SGSM3 SHH SIX6 SKIL SMAD4 SMURF1 SNCA SOCS2 SORCS1 SOX2 SPRY2 ST8SIA4 STC1 STX16 TBL1X TCF3 TCF7L1 TFAP2A TFAP2C TLE5 TNFRSF11B TOX3 TRIM33 TRPM2 TSC22D1 TSKU TTC14 UBTF VAX2 WDR44 WNT1 YJU2B ZBTB16 ZBTB2 ZBTB7B ZFHX4 ZNF219 (see all 141) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	OGT	O-Linked N-Acetylglucosamine (GlcNAc) Transferase	Protein Coding	1
2	HDAC10	Histone Deacetylase 10	Protein Coding	1
3	ST8SIA4	ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 4	Protein Coding	1
4	MYORG	Myogenesis Regulating Glycosidase	Protein Coding	1
5	RGMA	Repulsive Guidance Molecule BMP Co-Receptor A	Protein Coding	1
6	C1GALT1	Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1	Protein Coding	1
7	PI4KA	Phosphatidylinositol 4-Kinase Alpha	Protein Coding	1
8	PDE7A	Phosphodiesterase 7A	Protein Coding	1
9	PLCXD3	Phosphatidylinositol Specific Phospholipase C X Domain Containing 3	Protein Coding	1
10	MAFB	MAF BZIP Transcription Factor B	Protein Coding	1
11	PAN2	Poly(A) Specific Ribonuclease Subunit PAN2	Protein Coding	1
12	GREB1	Growth Regulating Estrogen Receptor Binding 1	Protein Coding	1
13	BOC	BOC Cell Adhesion Associated, Oncogene Regulated	Protein Coding	1
14	TSC22D1	TSC22 Domain Family Member 1	Protein Coding	1
15	SOCS2	Suppressor Of Cytokine Signaling 2	Protein Coding	1
16	HESX1	HESX Homeobox 1	Protein Coding	1
17	STX16	Syntaxin 16	Protein Coding	1
18	PPFIBP2	PPFIB Scaffold Protein 2	Protein Coding	1
19	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	1
20	FZD8	Frizzled Class Receptor 8	Protein Coding	1
21	FZD4	Frizzled Class Receptor 4	Protein Coding	1
22	NARS2	Asparaginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1
23	ARHGAP10	Rho GTPase Activating Protein 10	Protein Coding	1
24	ZBTB16	Zinc Finger And BTB Domain Containing 16	Protein Coding	1
25	WNT1	Wnt Family Member 1	Protein Coding	1
26	TRPM2	Transient Receptor Potential Cation Channel Subfamily M Member 2	Protein Coding	1
27	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	1
28	TFAP2C	Transcription Factor AP-2 Gamma	Protein Coding	1
29	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	1
30	TCF3	Transcription Factor 3	Protein Coding	1
31	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	1
32	ELOVL4	ELOVL Fatty Acid Elongase 4	Protein Coding	1
33	SOX2	SRY-Box Transcription Factor 2	Protein Coding	1
34	SNCA	Synuclein Alpha	Protein Coding	1
35	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
36	BMP4	Bone Morphogenetic Protein 4	Protein Coding	1
37	SKIL	SKI Like Proto-Oncogene	Protein Coding	1
38	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
39	SDCBP	Syndecan Binding Protein	Protein Coding	1
40	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	1
41	RIT1	Ras Like Without CAAX 1	Protein Coding	1
42	PTPRB	Protein Tyrosine Phosphatase Receptor Type B	Protein Coding	1
43	SMURF1	SMAD Specific E3 Ubiquitin Protein Ligase 1	Protein Coding	1
44	ANKS1B	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B	Protein Coding	1
45	ARHGAP15	Rho GTPase Activating Protein 15	Protein Coding	1
46	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	1
47	ELOVL2	ELOVL Fatty Acid Elongase 2	Protein Coding	1
48	BCOR	BCL6 Corepressor	Protein Coding	1
49	AHI1	Abelson Helper Integration Site 1	Protein Coding	1
50	PPARD	Peroxisome Proliferator Activated Receptor Delta	Protein Coding	1
51	POU2F2	POU Class 2 Homeobox 2	Protein Coding	1
52	PODXL	Podocalyxin Like	Protein Coding	1
53	PLXNA2	Plexin A2	Protein Coding	1
54	PIM1	Pim-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
55	SERPINB6	Serpin Family B Member 6	Protein Coding	1
56	PGM1	Phosphoglucomutase 1	Protein Coding	1
57	RAB8B	RAB8B, Member RAS Oncogene Family	Protein Coding	1
58	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1
59	ZBTB7B	Zinc Finger And BTB Domain Containing 7B	Protein Coding	1
60	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	1
61	PAX6	Paired Box 6	Protein Coding	1
62	PAX3	Paired Box 3	Protein Coding	1
63	CLDN11	Claudin 11	Protein Coding	1
64	SIX6	SIX Homeobox 6	Protein Coding	1
65	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	1
66	MIR361	MicroRNA 361	RNA Gene	1
67	NUMA1	Nuclear Mitotic Apparatus Protein 1	Protein Coding	1
68	ROR2	Receptor Tyrosine Kinase Like Orphan Receptor 2	Protein Coding	1
69	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	1
70	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
71	ASTN1	Astrotactin 1	Protein Coding	1
72	CCDC88C	Coiled-Coil And HOOK Domain Protein 88C	Protein Coding	1
73	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	1
74	SMAD4	SMAD Family Member 4	Protein Coding	1
75	MIR34C	MicroRNA 34c	RNA Gene	1
76	MIR15B	MicroRNA 15b	RNA Gene	1
77	LY6E	Lymphocyte Antigen 6 Family Member E	Protein Coding	1
78	LHX1	LIM Homeobox 1	Protein Coding	1
79	KRT6A	Keratin 6A	Protein Coding	1
80	JUP	Junction Plakoglobin	Protein Coding	1
81	FOXA2	Forkhead Box A2	Protein Coding	1
82	HMGB2	High Mobility Group Box 2	Protein Coding	1
83	GLI3	GLI Family Zinc Finger 3	Protein Coding	1
84	TOX3	TOX High Mobility Group Box Family Member 3	Protein Coding	1
85	GLB1	Galactosidase Beta 1	Protein Coding	1
86	GATA6	GATA Binding Protein 6	Protein Coding	1
87	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
88	ARHGEF9	Cdc42 Guanine Nucleotide Exchange Factor 9	Protein Coding	1
89	PHF8	PHD Finger Protein 8	Protein Coding	1
90	NLGN1	Neuroligin 1	Protein Coding	1
91	FHL2	Four And A Half LIM Domains 2	Protein Coding	1
92	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
93	CELSR2	Cadherin EGF LAG Seven-Pass G-Type Receptor 2	Protein Coding	1
94	EDA	Ectodysplasin A	Protein Coding	1
95	DMD	Dystrophin	Protein Coding	1
96	ARX	Aristaless Related Homeobox	Protein Coding	1
97	TLE5	TLE Family Member 5, Transcriptional Modulator	Protein Coding	1
98	JAKMIP1	Janus Kinase And Microtubule Interacting Protein 1	Protein Coding	1
99	CTNND2	Catenin Delta 2	Protein Coding	1
100	CTNNB1	Catenin Beta 1	Protein Coding	1
101	CTNNA2	Catenin Alpha 2	Protein Coding	1
102	CTBP1	C-Terminal Binding Protein 1	Protein Coding	1
103	RHPN1	Rhophilin Rho GTPase Binding Protein 1	Protein Coding	1
104	GAS2L1	Growth Arrest Specific 2 Like 1	Protein Coding	1
105	CAP2	Cyclase Associated Actin Cytoskeleton Regulatory Protein 2	Protein Coding	1
106	ABCC4	ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group)	Protein Coding	1
107	SPRY2	Sprouty RTK Signaling Antagonist 2	Protein Coding	1
108	CDH6	Cadherin 6	Protein Coding	1
109	HDAC6	Histone Deacetylase 6	Protein Coding	1
110	CLVS1	Clavesin 1	Protein Coding	1
111	TTC14	Tetratricopeptide Repeat Domain 14	Protein Coding	1
112	LDB2	LIM Domain Binding 2	Protein Coding	1
113	SORCS1	Sortilin Related VPS10 Domain Containing Receptor 1	Protein Coding	1
114	BAZ1A	Bromodomain Adjacent To Zinc Finger Domain 1A	Protein Coding	1
115	H2BC9	H2B Clustered Histone 9	Protein Coding	1
116	YJU2B	YJU2 Splicing Factor Homolog B	Protein Coding	1
117	ZFHX4	Zinc Finger Homeobox 4	Protein Coding	1
118	FZD5	Frizzled Class Receptor 5	Protein Coding	1
119	MZF1	Myeloid Zinc Finger 1	Protein Coding	1
120	UBTF	Upstream Binding Transcription Factor	Protein Coding	1
121	STC1	Stanniocalcin 1	Protein Coding	1
122	RRBP1	Ribosome Binding Protein 1	Protein Coding	1
123	EDA2R	Ectodysplasin A2 Receptor	Protein Coding	1
124	PTPN13	Protein Tyrosine Phosphatase Non-Receptor Type 13	Protein Coding	1
125	ZBTB2	Zinc Finger And BTB Domain Containing 2	Protein Coding	1
126	GRAMD1B	GRAM Domain Containing 1B	Protein Coding	1
127	BCAS3	BCAS3 Microtubule Associated Cell Migration Factor	Protein Coding	1
128	WDR44	WD Repeat Domain 44	Protein Coding	1
129	KCNK10	Potassium Two Pore Domain Channel Subfamily K Member 10	Protein Coding	1
130	NLK	Nemo Like Kinase	Protein Coding	1
131	TRIM33	Tripartite Motif Containing 33	Protein Coding	1
132	ZNF219	Zinc Finger Protein 219	Protein Coding	1
133	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	1
134	ARHGDIG	Rho GDP Dissociation Inhibitor Gamma	Protein Coding	1
135	KIFC3	Kinesin Family Member C3	Protein Coding	1
136	CDH8	Cadherin 8	Protein Coding	1
137	SCHIP1	Schwannomin Interacting Protein 1	Protein Coding	1
138	SGSM3	Small G Protein Signaling Modulator 3	Protein Coding	1
139	TSKU	Tsukushi, Small Leucine Rich Proteoglycan	Protein Coding	1
140	VAX2	Ventral Anterior Homeobox 2	Protein Coding	1
141	FOXL1	Forkhead Box L1	Protein Coding	1

Disorders associated with Ectoderm differentiation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Macs syndrome	Enrichment	PAX6, SHH, SIX6, SOX2	4.32
2	Microphthalmia	Enrichment	PAX6, SIX6, SOX2, TFAP2A	4.15
3	Ectodermal dysplasia 1, hypohidrotic, x-linked	Enrichment	EDA, EDA2R	3.97
4	Cat eye syndrome	Enrichment	FZD5, PAX6, TFAP2A	3.90
5	Septooptic dysplasia	Enrichment	HESX1, SHH, SOX2	3.65
6	Microphthalmia/coloboma 12	Enrichment	CDON, FZD5, PAX6	3.54
7	Acute promyelocytic leukemia	Enrichment	BCOR, NUMA1, ZBTB16	3.54
8	Juvenile polyposis syndrome	Enrichment	BMPR1A, SMAD4	3.50
9	Coloboma of macula	Enrichment	CDON, FZD5, PAX6	3.34
10	Eyelid coloboma	Enrichment	FZD5, PAX6	3.20
11	Lens coloboma	Enrichment	FZD5, PAX6	3.20
12	Exudative vitreoretinopathy 1	Enrichment	CTNNB1, FZD4	2.98
13	Congenital heart defects, multiple types, 4	Enrichment	GATA6, NR2F2	2.98
14	Joubert syndrome with ocular defect	Enrichment	AHI1, MKS1	2.98
15	Coloboma of choroid and retina	Enrichment	FZD5, PAX6	2.98
16	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A, SMAD4	2.98
17	Coloboma of optic nerve	Enrichment	FZD5, PAX6	2.81
18	Anterior segment dysgenesis 5	Enrichment	BMP4, PAX6	2.81
19	Hypertelorism	Enrichment	FGFR2, PAX6, RIT1, TFAP2A	2.69
20	Gallbladder cancer	Enrichment	CTNNB1, SMAD4	2.66
21	Spastic ataxia	Enrichment	CCDC88C, ELOVL4, GLB1, MKS1	2.66
22	Exudative vitreoretinopathy	Enrichment	CTNNB1, FZD4	2.54
23	Combined pituitary hormone deficiency	Enrichment	FOXA2, HESX1	2.54
24	Tooth agenesis, selective, 1	Enrichment	EDA, EDA2R	2.43
25	Peters-plus syndrome	Enrichment	BMP4, PAX6	2.34
26	Meningioma, familial	Enrichment	NF2, SCHIP1	2.26
27	Nanophthalmos	Enrichment	SIX6, SOX2	2.26
28	Non-syndromic x-linked intellectual disability	Enrichment	ARX, DMD, MECP2	2.21
29	Early-onset parkinson's disease	Enrichment	PODXL, SNCA	2.18
30	Diaphragmatic hernia, congenital	Enrichment	GATA6, GLI3	2.11
31	Heart disease	Enrichment	NR2F2, RIT1	2.05
32	Pituitary stalk interruption syndrome	Enrichment	CDON, HESX1	2.05
33	Hydrocephalus	Enrichment	CCDC88C, FGFR2	1.99
34	Septopreoptic holoprosencephaly	Enrichment	CDON, SHH	1.99
35	Midline interhemispheric variant of holoprosencephaly	Enrichment	CDON, SHH	1.99
36	Holoprosencephaly 3	Enrichment	SHH	1.98
37	Pallister-hall syndrome	Enrichment	GLI3	1.98
38	Brachydactyly, type b1	Enrichment	ROR2	1.98
39	Multicentric carpotarsal osteolysis syndrome	Enrichment	MAFB	1.98
40	Craniofacial-deafness-hand syndrome	Enrichment	PAX3	1.98
41	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.98
42	Greig cephalopolysyndactyly syndrome	Enrichment	GLI3	1.98
43	Waardenburg syndrome, type 3	Enrichment	PAX3	1.98
44	Parkinson disease 1, autosomal dominant	Enrichment	SNCA	1.98
45	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	Enrichment	HDAC6	1.98
46	Intellectual developmental disorder, x-linked, syndromic, siderius type	Enrichment	PHF8	1.98
47	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	1.98
48	Developmental and epileptic encephalopathy 8	Enrichment	ARHGEF9	1.98
49	Arrhythmogenic right ventricular dysplasia, familial, 12	Enrichment	JUP	1.98
50	Muscular dystrophy, becker type	Enrichment	DMD	1.98
51	Facial hypertrichosis	Enrichment	MECP2	1.98
52	Joubert syndrome 3	Enrichment	AHI1	1.98
53	Polydactyly, preaxial iv	Enrichment	GLI3	1.98
54	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.98
55	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	1.98
56	Schwannomatosis, vestibular	Enrichment	NF2	1.98
57	Apert syndrome	Enrichment	FGFR2	1.98
58	Skeletal defects, genital hypoplasia, and impaired intellectual development	Enrichment	ZBTB16	1.98
59	Microphthalmia/coloboma 5	Enrichment	SHH	1.98
60	Spinocerebellar ataxia 34	Enrichment	ELOVL4	1.98
61	Parkinson disease 4, autosomal dominant	Enrichment	SNCA	1.98
62	Iga nephropathy 3	Enrichment	SPRY2	1.98
63	Pachyonychia congenita 3	Enrichment	KRT6A	1.98
64	Atrioventricular septal defect 5	Enrichment	GATA6	1.98
65	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.98
66	Naxos disease	Enrichment	JUP	1.98
67	Intellectual developmental disorder, x-linked, syndromic, lubs type	Enrichment	MECP2	1.98
68	Cardiomyopathy, dilated, 2i	Enrichment	CAP2	1.98
69	Agammaglobulinemia 8b, autosomal recessive	Enrichment	TCF3	1.98
70	Autism x-linked 3	Enrichment	MECP2	1.98
71	Cortical dysplasia, complex, with other brain malformations 9	Enrichment	CTNNA2	1.98
72	46,xx sex reversal 5	Enrichment	NR2F2	1.98
73	Cardiomyopathy, dilated, 3b	Enrichment	DMD	1.98
74	Microphthalmia, syndromic 6	Enrichment	BMP4	1.98
75	Syndromic x-linked intellectual disability siderius type	Enrichment	PHF8	1.98
76	Intellectual developmental disorder, x-linked 106	Enrichment	OGT	1.98
77	Orofacial cleft 11	Enrichment	BMP4	1.98
78	Cardiomyopathy, familial hypertrophic, 6	Enrichment	PRKAG2	1.98
79	Tooth agenesis, selective, x-linked, 1	Enrichment	EDA	1.98
80	Glycogen storage disease of heart, lethal congenital	Enrichment	PRKAG2	1.98
81	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	1.98
82	Agammaglobulinemia 8a, autosomal dominant	Enrichment	TCF3	1.98
83	Spinocerebellar ataxia 40	Enrichment	CCDC88C	1.98
84	Ichthyosis, spastic quadriplegia, and impaired intellectual development	Enrichment	ELOVL4	1.98
85	Holoprosencephaly 11	Enrichment	CDON	1.98
86	Deafness, autosomal recessive 91	Enrichment	SERPINB6	1.98
87	Otosclerosis 11	Enrichment	FOXL1	1.98
88	Syndromic x-linked intellectual disability lubs type	Enrichment	MECP2	1.98
89	Microphthalmia/coloboma 11	Enrichment	FZD5	1.98
90	Atrial septal defect 9	Enrichment	GATA6	1.98
91	Leukodystrophy, hypomyelinating, 22	Enrichment	CLDN11	1.98
92	Duane retraction syndrome 3 with or without deafness	Enrichment	MAFB	1.98
93	Basal ganglia calcification, idiopathic, 7, autosomal recessive	Enrichment	MYORG	1.98
94	Deafness, autosomal recessive 94	Enrichment	NARS2	1.98
95	Autism 20	Enrichment	NLGN1	1.98
96	Spastic paraplegia 84, autosomal recessive	Enrichment	PI4KA	1.98
97	Adenoid ameloblastoma	Enrichment	CTNNB1	1.98
98	Heritable thoracic aortic disease	Enrichment	SMAD4	1.98
99	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	1.98
100	Developmental dysplasia of the hip 4	Enrichment	TRIM33	1.98
101	Symptomatic form of muscular dystrophy of duchenne and becker in female carriers	Enrichment	DMD	1.98
102	X-linked spasticity-intellectual disability-epilepsy syndrome	Enrichment	ARX	1.98
103	Duane retraction syndrome 3	Enrichment	MAFB	1.98
104	Acoustic neuroma	Enrichment	NF2	1.98
105	Glb1-related disorders	Enrichment	GLB1	1.98
106	Duchenne and becker muscular dystrophy	Enrichment	DMD	1.98
107	Duane retraction syndrome with congenital deafness	Enrichment	MAFB	1.98
108	Gastrointestinal defects and immunodeficiency syndrome 2	Enrichment	PI4KA	1.98
109	Dislocation of the hip-dysmorphism syndrome	Enrichment	TRIM33	1.98
110	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.98
111	Microcystic stromal tumor	Enrichment	CTNNB1	1.98
112	Qualitative or quantitative defects of dystrophin	Enrichment	DMD	1.98
113	Pi4ka-related disorder	Enrichment	PI4KA	1.98
114	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	1.98
115	Wolff-parkinson-white syndrome	Enrichment	JUP, PRKAG2	1.93
116	Hydrocephalus, congenital, 1	Enrichment	ARX, CCDC88C	1.93
117	Microform holoprosencephaly	Enrichment	CDON, SHH	1.93
118	Lobar holoprosencephaly	Enrichment	CDON, SHH	1.93
119	Colorectal cancer	Enrichment	CTNNB1, DMD, FGFR2, SMAD4	1.89
120	Alobar holoprosencephaly	Enrichment	CDON, SHH	1.88
121	Semilobar holoprosencephaly	Enrichment	CDON, SHH	1.83
122	Familial isolated dilated cardiomyopathy	Enrichment	CAP2, DMD, FHL2	1.75
123	Craniosynostosis	Enrichment	FGFR2, GLI3	1.74
124	Cri-du-chat syndrome	Enrichment	CTNND2	1.68
125	Keratitis, hereditary	Enrichment	PAX6	1.68
126	Burkitt lymphoma	Enrichment	MYC	1.68
127	Foveal hypoplasia 1	Enrichment	PAX6	1.68
128	Myhre syndrome	Enrichment	SMAD4	1.68
129	Duane retraction syndrome 1	Enrichment	MAFB	1.68
130	Paget disease of bone 5, juvenile-onset	Enrichment	TNFRSF11B	1.68
131	Microphthalmia, syndromic 1	Enrichment	BCOR	1.68
132	Optic disc anomalies with retinal and/or macular dystrophy	Enrichment	SIX6	1.68
133	Corpus callosum, agenesis of, with abnormal genitalia	Enrichment	ARX	1.68
134	Lissencephaly, x-linked, 2	Enrichment	ARX	1.68
135	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.68
136	Intellectual developmental disorder, x-linked 29	Enrichment	ARX	1.68
137	Encephalopathy, neonatal severe, due to mecp2 mutations	Enrichment	MECP2	1.68
138	Microphthalmia, syndromic 2	Enrichment	BCOR	1.68
139	Aicardi syndrome	Enrichment	ARX	1.68
140	Stargardt disease 3	Enrichment	ELOVL4	1.68
141	Schwannomatosis 1	Enrichment	NF2	1.68
142	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	1.68
143	Alzheimer disease 6	Enrichment	SORCS1	1.68
144	Aural atresia, congenital	Enrichment	FGFR2	1.68
145	Pfeiffer syndrome	Enrichment	FGFR2	1.68
146	Osteogenesis imperfecta, type xv	Enrichment	WNT1	1.68
147	Jackson-weiss syndrome	Enrichment	FGFR2	1.68
148	Pituitary hormone deficiency, combined or isolated, 1	Enrichment	HESX1	1.68
149	Solitary median maxillary central incisor	Enrichment	SHH	1.68
150	Optic nerve hypoplasia, bilateral	Enrichment	PAX6	1.68
151	Duane retraction syndrome 2	Enrichment	MAFB	1.68
152	Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities	Enrichment	PI4KA	1.68
153	Congenital disorder of glycosylation, type it	Enrichment	PGM1	1.68
154	Noonan syndrome 8	Enrichment	RIT1	1.68
155	Leber congenital amaurosis 6	Enrichment	MKS1	1.68
156	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.68
157	Neutropenia, severe congenital, 8, autosomal dominant	Enrichment	GATA6	1.68
158	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Enrichment	CTBP1	1.68
159	Ciliary dyskinesia, primary, 14	Enrichment	TTC14	1.68
160	Intellectual developmental disorder, x-linked, syndromic 13	Enrichment	MECP2	1.68
161	Parkinson disease 15, autosomal recessive early-onset	Enrichment	SNCA	1.68
162	Tibial hemimelia	Enrichment	GLI3	1.68
163	Cornea plana	Enrichment	SIX6	1.68
164	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.68
165	Split hand-foot malformation	Enrichment	FGFR2	1.68
166	Synpolydactyly	Enrichment	GLI3	1.68
167	X-linked intellectual disability-psychosis-macroorchidism syndrome	Enrichment	MECP2	1.68
168	Bardet-biedl syndrome 13	Enrichment	MKS1	1.68
169	Joubert syndrome 28	Enrichment	MKS1	1.68
170	Esotropia	Enrichment	TFAP2A	1.68
171	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	1.68
172	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.68
173	Combined immunodeficiency-multiple intestinal atresia	Enrichment	PI4KA	1.68
174	Hengel-maroofian-schols syndrome	Enrichment	BCAS3	1.68
175	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	Enrichment	SIX6	1.68
176	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	TCF3	1.68
177	Postaxial polydactyly type b	Enrichment	GLI3	1.68
178	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.68
179	Teratoma	Enrichment	CTNNB1	1.68
180	B-lymphoblastic leukemia/lymphoma with t(17;19)	Enrichment	TCF3	1.68
181	Juvenile polyposis of infancy	Enrichment	BMPR1A	1.68
182	Isolated radial hemimelia	Enrichment	SHH	1.68
183	Lens subluxation	Enrichment	TFAP2A	1.68
184	Progressive bulbar palsy	Enrichment	MECP2	1.68
185	Bruxism	Enrichment	MECP2	1.68
186	Tooth agenesis	Enrichment	EDA, EDA2R	1.66
187	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC, ZBTB16	1.63
188	Crouzon syndrome	Enrichment	FGFR2	1.51
189	Desmoid disease, hereditary	Enrichment	CTNNB1	1.51
190	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR2	1.51
191	Laryngomalacia	Enrichment	MECP2	1.51
192	Gm1-gangliosidosis, type i	Enrichment	GLB1	1.51
193	Mucopolysaccharidosis, type ivb	Enrichment	GLB1	1.51
194	Acrocallosal syndrome	Enrichment	GLI3	1.51
195	Gillespie syndrome	Enrichment	PAX6	1.51
196	Gm1-gangliosidosis, type ii	Enrichment	GLB1	1.51
197	Syndactyly, type iv	Enrichment	SHH	1.51
198	Aarskog-scott syndrome	Enrichment	GLI3	1.51
199	Partington syndrome	Enrichment	ARX	1.51
200	Heart defects, congenital, and other congenital anomalies	Enrichment	GATA6	1.51
201	Tooth agenesis, selective, 2	Enrichment	EDA	1.51
202	Muscular dystrophy, duchenne type	Enrichment	DMD	1.51
203	Osteoporosis, juvenile	Enrichment	WNT1	1.51
204	Heparin cofactor ii deficiency	Enrichment	PI4KA	1.51
205	Epidermolysis bullosa, lethal acantholytic	Enrichment	JUP	1.51
206	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.51
207	Combined oxidative phosphorylation deficiency 1	Enrichment	NARS2	1.51
208	Gm1-gangliosidosis, type iii	Enrichment	GLB1	1.51
209	Chromosome 17q12 deletion syndrome	Enrichment	LHX1	1.51
210	Anus, imperforate	Enrichment	CTNNB1	1.51
211	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.51
212	Umbilical hernia	Enrichment	GLI3	1.51
213	Desmoid tumor	Enrichment	CTNNB1	1.51
214	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.51
215	Gm1 gangliosidosis	Enrichment	GLB1	1.51
216	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	1.51
217	Cellular ependymoma	Enrichment	NF2	1.51
218	Tanycytic ependymoma	Enrichment	NF2	1.51
219	Papillary ependymoma	Enrichment	NF2	1.51
220	Duane retraction syndrome	Enrichment	MAFB	1.51
221	Neurodegeneration, childhood-onset, with brain atrophy	Enrichment	UBTF	1.51
222	Arachnoid cyst	Enrichment	ARX	1.51
223	Atypical juvenile parkinsonism	Enrichment	PODXL	1.51
224	Sclerocornea	Enrichment	SIX6	1.51
225	Spindle cell sarcoma	Enrichment	NF2	1.51
226	Clear cell ependymoma	Enrichment	NF2	1.51
227	Dend syndrome	Enrichment	NARS2	1.51
228	Congenital cornea plana	Enrichment	SIX6	1.51
229	Isolated joubert syndrome	Enrichment	AHI1, MKS1	1.41
230	Autism	Enrichment	DMD, MECP2, SHH	1.41
231	Aniridia 1	Enrichment	PAX6	1.39
232	Branchiooculofacial syndrome	Enrichment	TFAP2A	1.39
233	Polydactyly, preaxial ii	Enrichment	SHH	1.39
234	Pachyonychia congenita 1	Enrichment	KRT6A	1.39
235	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	EDA	1.39
236	Microphthalmia, syndromic 3	Enrichment	SOX2	1.39
237	Schizencephaly	Enrichment	SHH	1.39
238	Pseudohypoparathyroidism, type ib	Enrichment	STX16	1.39
239	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	RIT1	1.39
240	Orofaciodigital syndrome iii	Enrichment	CELSR2	1.39
241	Saethre-chotzen syndrome	Enrichment	FGFR2	1.39
242	Pilomatrixoma	Enrichment	CTNNB1	1.39
243	Chondrocalcinosis 2	Enrichment	TNFRSF11B	1.39
244	Alazami syndrome	Enrichment	CTNNB1	1.39
245	Basal ganglia calcification	Enrichment	MYORG	1.39
246	Ectodermal dysplasia	Enrichment	EDA	1.39
247	Retinopathy of prematurity	Enrichment	FZD4	1.39
248	Combined oxidative phosphorylation deficiency 24	Enrichment	NARS2	1.39
249	Craniopharyngioma	Enrichment	CTNNB1	1.39
250	Sick sinus syndrome	Enrichment	MECP2	1.39
251	Full schwannomatosis	Enrichment	NF2	1.39
252	Glioma	Enrichment	FGFR2	1.39
253	Benign ependymoma	Enrichment	NF2	1.39
254	Middle aortic syndrome	Enrichment	GATA6	1.39
255	Familial hypertrophic cardiomyopathy	Enrichment	DMD, PRKAG2	1.34
256	Dilated cardiomyopathy	Enrichment	DMD, GATA6, JUP	1.30
257	Hemifacial hyperplasia	Enrichment	FGFR2	1.29
258	Dementia, lewy body	Enrichment	SNCA	1.29
259	Robinow syndrome, autosomal recessive 1	Enrichment	ROR2	1.29
260	Parkinson disease 2, autosomal recessive juvenile	Enrichment	PODXL	1.29
261	Norrie disease	Enrichment	FZD4	1.29
262	Rhabdomyosarcoma 2	Enrichment	PAX3	1.29
263	Amblyopia	Enrichment	TFAP2A	1.29
264	Congenital ptosis	Enrichment	ZFHX4	1.29
265	Persistent hyperplastic primary vitreous	Enrichment	FZD4	1.29
266	Parkin type of early-onset parkinson disease	Enrichment	PODXL	1.29
267	Aniridia	Enrichment	PAX6	1.29
268	Rare syndromic intellectual disability	Enrichment	UBTF	1.29
269	Persistent truncus arteriosus	Enrichment	GATA6	1.29
270	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	Enrichment	HESX1	1.29
271	Angelman syndrome	Enrichment	MECP2	1.22
272	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	GLB1	1.22
273	Developmental dysplasia of the hip 1	Enrichment	TRIM33	1.22
274	Branchiootorenal syndrome 1	Enrichment	TFAP2A	1.22
275	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.22
276	Wolf-hirschhorn syndrome	Enrichment	CTBP1	1.22
277	Conotruncal heart malformations	Enrichment	GATA6	1.22
278	Split-hand/foot malformation 1	Enrichment	FGFR2	1.22
279	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	PAX6	1.22
280	Familial adult myoclonic epilepsy	Enrichment	CTNND2	1.22
281	Autosomal recessive robinow syndrome	Enrichment	ROR2	1.22
282	Adrenocortical carcinoma	Enrichment	CTNNB1	1.22
283	Waardenburg syndrome	Enrichment	PAX3	1.22
284	46,xy disorder of sex development	Enrichment	NR2F2	1.22
285	Kidney clear cell sarcoma	Enrichment	BCOR	1.22
286	Waardenburg syndrome, type 1	Enrichment	PAX3	1.15
287	Rett syndrome	Enrichment	MECP2	1.15
288	Coats disease	Enrichment	FZD4	1.15
289	Progressive familial intrahepatic cholestasis	Enrichment	GLB1	1.15
290	Branchiootorenal syndrome	Enrichment	TFAP2A	1.15
291	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.15
292	Focal epilepsy	Enrichment	MECP2	1.15
293	Congenital hydrocephalus	Enrichment	CCDC88C	1.15
294	Gastric cancer	Enrichment	FGFR2, SMAD4	1.13
295	Basal ganglia calcification, idiopathic, 1	Enrichment	MYORG	1.10
296	Rett syndrome, congenital variant	Enrichment	MECP2	1.10
297	Orofacial cleft 1	Enrichment	MAFB	1.05
298	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	CELSR2	1.05
299	Polydactyly	Enrichment	MKS1	1.05
300	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.05
301	Bilateral perisylvian polymicrogyria	Enrichment	PI4KA	1.05
302	Joubert syndrome 1	Enrichment	AHI1, MKS1	1.02
303	Meier-gorlin syndrome 1	Enrichment	FGFR2	1.00
304	Stickler syndrome	Enrichment	BMP4	1.00
305	Isolated tracheo-esophageal fistula	Enrichment	CELSR2	1.00
306	Autosomal non-syndromic agammaglobulinemia	Enrichment	TCF3	1.00
307	Pectus excavatum	Enrichment	DMD	0.96
308	Atrial heart septal defect	Enrichment	DMD	0.96
309	Interatrial communication	Enrichment	DMD	0.96
310	Familial colorectal cancer type x	Enrichment	BMPR1A	0.96
311	Epicanthus	Enrichment	TFAP2A	0.93
312	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	0.93
313	Meningioma	Enrichment	NF2	0.93
314	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	JUP	0.93
315	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	JUP	0.93
316	Schizophrenia	Enrichment	CTNND2, DMD	0.90
317	Osteogenesis imperfecta, type iv	Enrichment	WNT1	0.90
318	Stereotypic movement disorder	Enrichment	MECP2	0.90
319	Chronic kidney disease	Enrichment	MKS1	0.90
320	Osteoporosis	Enrichment	WNT1	0.87
321	Medulloblastoma	Enrichment	CTNNB1	0.87
322	Periventricular nodular heterotopia	Enrichment	ARX	0.87
323	Cleft lip/palate	Enrichment	BMP4	0.87
324	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	JUP	0.87
325	Polydactyly, postaxial, type a1	Enrichment	GLI3	0.84
326	Corpus callosum, agenesis of	Enrichment	ARX	0.84
327	Osteogenesis imperfecta, type iii	Enrichment	WNT1	0.84
328	Anterior segment dysgenesis	Enrichment	PAX6	0.84
329	Isolated corpus callosum agenesis	Enrichment	ARX	0.84
330	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	ARX	0.84
331	Male infertility with spermatogenesis disorder	Enrichment	HESX1	0.84
332	Noonan syndrome and noonan-related syndrome	Enrichment	RIT1	0.84
333	Creatine phosphokinase, elevated serum	Enrichment	DMD	0.81
334	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	JUP	0.81
335	Isolated elevated serum creatine phosphokinase levels	Enrichment	DMD	0.81
336	Inherited cancer-predisposing syndrome	Enrichment	BMPR1A, NF2, SMAD4	0.80
337	Congenital disorder of glycosylation, type in	Enrichment	PGM1	0.79
338	Polycystic liver disease	Enrichment	CTNNB1	0.79
339	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.79
340	Beckwith-wiedemann syndrome	Enrichment	DMD	0.77
341	Human immunodeficiency virus type 1	Enrichment	CCL2	0.77
342	Patent foramen ovale	Enrichment	GATA6	0.77
343	Early infantile developmental and epileptic encephalopathy	Enrichment	ARX	0.77
344	Esophageal atresia/tracheoesophageal fistula	Enrichment	CELSR2	0.74
345	Endometrial cancer	Enrichment	FGFR2	0.71
346	Hepatoblastoma	Enrichment	CTNNB1	0.71
347	Hepatocellular carcinoma	Enrichment	CTNNB1	0.69
348	Attention deficit-hyperactivity disorder	Enrichment	MECP2	0.69
349	Noonan syndrome 1	Enrichment	RIT1	0.67
350	Brittle bone disorder	Enrichment	WNT1	0.67
351	Kallmann syndrome	Enrichment	HESX1	0.67
352	Parkinson disease, late-onset	Enrichment	SNCA	0.65
353	Familial atrial fibrillation	Enrichment	GATA6	0.65
354	Muscular dystrophy	Enrichment	DMD	0.65
355	Pancreatic cancer	Enrichment	SMAD4	0.64
356	Developmental and epileptic encephalopathy 1	Enrichment	ARX	0.64
357	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	NARS2, SERPINB6	0.63
358	Tetralogy of fallot	Enrichment	GATA6	0.62
359	Hydrops fetalis, nonimmune	Enrichment	RIT1	0.62
360	Rasopathy	Enrichment	RIT1	0.62
361	Bladder cancer	Enrichment	CTNNB1	0.58
362	Hirschsprung disease 1	Enrichment	GLI3	0.58
363	Meckel syndrome, type 1	Enrichment	MKS1	0.58
364	Differentiated thyroid carcinoma	Enrichment	TRIM33	0.58
365	Stargardt disease 1	Enrichment	ELOVL4	0.57
366	Non-immune hydrops fetalis	Enrichment	RIT1	0.56
367	Ovarian cancer	Enrichment	BMPR1A, CTNNB1	0.55
368	Nephronophthisis	Enrichment	AHI1	0.53
369	Congenital nervous system abnormality	Enrichment	CTNNB1, MECP2	0.52
370	Nervous system disease	Enrichment	CTNNB1, MECP2	0.52
371	Fanconi anemia, complementation group a	Enrichment	DMD	0.51
372	Dystonia	Enrichment	MECP2	0.51
373	Eye disease	Enrichment	AHI1	0.51
374	Fetal akinesia deformation sequence 1	Enrichment	ROR2	0.49
375	Systemic lupus erythematosus	Enrichment	MECP2	0.47
376	Leukemia, acute myeloid	Enrichment	BCOR	0.47
377	Epilepsy	Enrichment	MECP2	0.47
378	Myopathy	Enrichment	DMD	0.47
379	Distal arthrogryposis	Enrichment	ROR2	0.45
380	Bardet-biedl syndrome	Enrichment	MKS1	0.45
381	Hypertrophic cardiomyopathy	Enrichment	PRKAG2	0.44
382	Microcephaly	Enrichment	CTNNB1, MECP2	0.44
383	West syndrome	Enrichment	ARX	0.43
384	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SMAD4	0.43
385	Sensorineural hearing loss	Enrichment	NARS2	0.40
386	Thrombocytopenia	Enrichment	SMAD4	0.40
387	Autosomal dominant non-syndromic intellectual disability	Enrichment	CTNND2	0.39
388	Hereditary breast ovarian cancer syndrome	Enrichment	CTNNA2	0.36
389	Myeloma, multiple	Enrichment	TCF3	0.35
390	Primary ciliary dyskinesia	Enrichment	TTC14	0.26
391	Rare genetic deafness	Enrichment	PAX3	0.25
392	Hereditary retinal dystrophy	Enrichment	AHI1, ELOVL4, FZD4	0.23
393	Fundus dystrophy	Enrichment	AHI1, ELOVL4, FZD4	0.23
394	Mitochondrial disease	Enrichment	NARS2	0.22
395	Leber plus disease	Enrichment	AHI1	0.20
396	Retinitis pigmentosa	Enrichment	AHI1, MKS1	0.19
397	Autism spectrum disorder	Enrichment	MECP2	0.17

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

Ectoderm differentiation

Pathway Network for Ectoderm differentiation

Member Pathways for Ectoderm differentiation

Pathways in the Ectoderm differentiation SuperPath

Associated Genes for Ectoderm differentiation

Associated Disorders for Ectoderm differentiation

Disorders associated with Ectoderm differentiation SuperPath

STRING Interaction Network for Ectoderm differentiation

Sources for Ectoderm differentiation