Wnt / Hedgehog / Notch

No Pathway Network information available for Wnt / Hedgehog / Notch

Pathways in the Wnt / Hedgehog / Notch SuperPath

#	Name	Source	Genes
1	Wnt / Hedgehog / Notch	Cell Signaling Technology	ACVR1 ADAM17 AFP ALPL AMER1 AMHR2 APC ARRB1 ARRB2 AXIN1 AXIN2 BAG6 BCL9 BCL9L BMP4 BMP6 BMP7 BMPR2 BRD2 CACYBP CCN2 CDC73 CDCP1 CDX2 CELSR2 CRIPTO CSNK1A1 CSNK1D CSNK1E CSPG4 CTNNB1 CTNND1 CUX1 CYLD DDX5 DIXDC1 DKK1 DKK2 DLK1 DLL1 DLL3 DLL4 DVL2 DVL3 EMD ENG FOXD3 FOXK2 FOXP1 FOXP2 FOXP3 FSCN1 FUT4 FZD5 FZD6 GDF15 GLI1 GLI2 GREM1 GSK3A GSK3B HES1 ID2 ID3 IGF2BP1 ITCH JAG1 JAG2 KIF3A KLF4 LATS1 LEF1 LEFTY1 LFNG LIN28A LIN28B LRP5 LRP6 MAML1 MAML2 MAP3K7 MARK3 MESD MIB1 MOB1A MOB1B MSI1 MSX1 MYB NANOG NCSTN NDRG1 NDRG4 NEDD4L NKD1 NKD2 NKX2-2 NKX2-5 NLK NOTCH1 NOTCH2 NOTCH3 NOTCH4 NR6A1 NUMB PARN PAX2 PAX3 PAX5 PAX9 POU5F1 PPM1A PROM1 PSEN1 PSEN2 PSENEN PTCH1 PTCH2 PTPN14 RBPJ RING1 RIPK4 RUNX3 RUVBL1 SAV1 SCRIB SERPINE1 SFRP1 SHH SIX1 SKIL SMAD1 SMAD2 SMAD3 SMAD4 SMAD5 SMAD9 SMURF1 SMURF2 SNAI1 SNAI2 SOX2 SP1 SPARC STK4 SUFU TAB1 TAB2 TBK1 TCF12 TCF7 TCF7L1 TCF7L2 TEAD1 TEAD2 TEAD3 TEAD4 TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR3 TLE1 TLE2 TLE3 TLE4 TRIB2 TRIM33 USP15 UTF1 VANGL1 WBP2 WIF1 WNT3A WNT5A WNT5B WWC1 WWTR1 YAP1 ZEB1 ZFYVE9 (see all 182) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	AFP	Alpha Fetoprotein	Protein Coding	1
2	ACVR1	Activin A Receptor Type 1	Protein Coding	1
3	ALPL	Alkaline Phosphatase, Biomineralization Associated	Protein Coding	1
4	RUNX3	RUNX Family Transcription Factor 3	Protein Coding	1
5	RIPK4	Receptor Interacting Serine/Threonine Kinase 4	Protein Coding	1
6	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	1
7	ARRB1	Arrestin Beta 1	Protein Coding	1
8	ARRB2	Arrestin Beta 2	Protein Coding	1
9	AXIN1	Axin 1	Protein Coding	1
10	AXIN2	Axin 2	Protein Coding	1
11	BAG6	BAG Cochaperone 6	Protein Coding	1
12	BCL9	BCL9 Transcription Coactivator	Protein Coding	1
13	BCL9L	BCL9 Like	Protein Coding	1
14	TGFBI	Transforming Growth Factor Beta Induced	Protein Coding	1
15	BMP4	Bone Morphogenetic Protein 4	Protein Coding	1
16	BMP6	Bone Morphogenetic Protein 6	Protein Coding	1
17	BMP7	Bone Morphogenetic Protein 7	Protein Coding	1
18	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	1
19	BRD2	Bromodomain Containing 2	Protein Coding	1
20	CACYBP	Calcyclin Binding Protein	Protein Coding	1
21	PROM1	Prominin 1	Protein Coding	1
22	CDC73	Cell Division Cycle 73	Protein Coding	1
23	CDCP1	CUB Domain Containing Protein 1	Protein Coding	1
24	CDX2	Caudal Type Homeobox 2	Protein Coding	1
25	CELSR2	Cadherin EGF LAG Seven-Pass G-Type Receptor 2	Protein Coding	1
26	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	1
27	CSNK1D	Casein Kinase 1 Delta	Protein Coding	1
28	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	1
29	CCN2	Cellular Communication Network Factor 2	Protein Coding	1
30	CTNNB1	Catenin Beta 1	Protein Coding	1
31	CTNND1	Catenin Delta 1	Protein Coding	1
32	CUX1	Cut Like Homeobox 1	Protein Coding	1
33	CYLD	CYLD Lysine 63 Deubiquitinase	Protein Coding	1
34	DDX5	DEAD-Box Helicase 5	Protein Coding	1
35	DIXDC1	DIX Domain Containing 1	Protein Coding	1
36	DKK1	Dickkopf Wnt Signaling Pathway Inhibitor 1	Protein Coding	1
37	DKK2	Dickkopf Wnt Signaling Pathway Inhibitor 2	Protein Coding	1
38	DLK1	Delta Like Non-Canonical Notch Ligand 1	Protein Coding	1
39	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	1
40	DLL3	Delta Like Canonical Notch Ligand 3	Protein Coding	1
41	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	1
42	DVL2	Dishevelled Segment Polarity Protein 2	Protein Coding	1
43	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	1
44	EMD	Emerin	Protein Coding	1
45	ENG	Endoglin	Protein Coding	1
46	FSCN1	Fascin Actin-Bundling Protein 1	Protein Coding	1
47	FOXD3	Forkhead Box D3	Protein Coding	1
48	FOXK2	Forkhead Box K2	Protein Coding	1
49	FOXP1	Forkhead Box P1	Protein Coding	1
50	FOXP2	Forkhead Box P2	Protein Coding	1
51	FOXP3	Forkhead Box P3~Name Same As:- HGNC:13781	Protein Coding	1
52	FUT4	Fucosyltransferase 4	Protein Coding	1
53	FZD5	Frizzled Class Receptor 5	Protein Coding	1
54	FZD6	Frizzled Class Receptor 6	Protein Coding	1
55	GDF15	Growth Differentiation Factor 15	Protein Coding	1
56	GLI1	GLI Family Zinc Finger 1	Protein Coding	1
57	GLI2	GLI Family Zinc Finger 2	Protein Coding	1
58	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	1
59	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	1
60	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
61	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	1
62	ID2	Inhibitor Of DNA Binding 2	Protein Coding	1
63	ID3	Inhibitor Of DNA Binding 3	Protein Coding	1
64	IGF2BP1	Insulin Like Growth Factor 2 MRNA Binding Protein 1	Protein Coding	1
65	ITCH	Itchy E3 Ubiquitin Protein Ligase	Protein Coding	1
66	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	1
67	JAG2	Jagged Canonical Notch Ligand 2	Protein Coding	1
68	WWC1	WW And C2 Domain Containing 1	Protein Coding	1
69	KIF3A	Kinesin Family Member 3A	Protein Coding	1
70	KLF4	KLF Transcription Factor 4	Protein Coding	1
71	LATS1	Large Tumor Suppressor Kinase 1	Protein Coding	1
72	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	1
73	LEFTY1	Left-Right Determination Factor 1	Protein Coding	1
74	LFNG	LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase	Protein Coding	1
75	LIN28A	Lin-28 RNA Binding Posttranscriptional Regulator A	Protein Coding	1
76	LIN28B	Lin-28 RNA Binding Posttranscriptional Regulator B	Protein Coding	1
77	LRP5	LDL Receptor Related Protein 5	Protein Coding	1
78	LRP6	LDL Receptor Related Protein 6	Protein Coding	1
79	MAML1	Mastermind Like Transcriptional Coactivator 1	Protein Coding	1
80	MAML2	Mastermind Like Transcriptional Coactivator 2	Protein Coding	1
81	MARK3	Microtubule Affinity Regulating Kinase 3	Protein Coding	1
82	MESD	Mesoderm Development LRP Chaperone	Protein Coding	1
83	MIB1	MIB E3 Ubiquitin Protein Ligase 1	Protein Coding	1
84	AMHR2	Anti-Mullerian Hormone Receptor Type 2	Protein Coding	1
85	MOB1A	MOB Kinase Activator 1A	Protein Coding	1
86	MOB1B	MOB Kinase Activator 1B	Protein Coding	1
87	STK4	Serine/Threonine Kinase 4	Protein Coding	1
88	MSX1	Msh Homeobox 1	Protein Coding	1
89	MSI1	Musashi RNA Binding Protein 1	Protein Coding	1
90	MYB	MYB Proto-Oncogene, Transcription Factor	Protein Coding	1
91	NANOG	Nanog Homeobox	Protein Coding	1
92	NDRG1	N-Myc Downstream Regulated 1	Protein Coding	1
93	NDRG4	NDRG Family Member 4	Protein Coding	1
94	NEDD4L	NEDD4 Like E3 Ubiquitin Protein Ligase	Protein Coding	1
95	CSPG4	Chondroitin Sulfate Proteoglycan 4	Protein Coding	1
96	NCSTN	Nicastrin	Protein Coding	1
97	NKD1	NKD Inhibitor Of Wnt Signaling Pathway 1	Protein Coding	1
98	NKD2	NKD Inhibitor Of Wnt Signaling Pathway 2	Protein Coding	1
99	NKX2-2	NK2 Homeobox 2	Protein Coding	1
100	NKX2-5	NK2 Homeobox 5	Protein Coding	1
101	NLK	Nemo Like Kinase	Protein Coding	1
102	NOTCH1	Notch Receptor 1	Protein Coding	1
103	NOTCH2	Notch Receptor 2	Protein Coding	1
104	NOTCH3	Notch Receptor 3	Protein Coding	1
105	NOTCH4	Notch Receptor 4	Protein Coding	1
106	NR6A1	Nuclear Receptor Subfamily 6 Group A Member 1	Protein Coding	1
107	NUMB	NUMB Endocytic Adaptor Protein	Protein Coding	1
108	POU5F1	POU Class 5 Homeobox 1	Protein Coding	1
109	PARN	Poly(A)-Specific Ribonuclease	Protein Coding	1
110	PAX2	Paired Box 2	Protein Coding	1
111	PAX3	Paired Box 3	Protein Coding	1
112	PAX5	Paired Box 5	Protein Coding	1
113	PAX9	Paired Box 9	Protein Coding	1
114	PPM1A	Protein Phosphatase, Mg2+/Mn2+ Dependent 1A	Protein Coding	1
115	PSEN1	Presenilin 1	Protein Coding	1
116	PSEN2	Presenilin 2	Protein Coding	1
117	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	1
118	PTCH1	Patched 1	Protein Coding	1
119	PTCH2	Patched 2	Protein Coding	1
120	PTPN14	Protein Tyrosine Phosphatase Non-Receptor Type 14	Protein Coding	1
121	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	1
122	RING1	Ring Finger Protein 1	Protein Coding	1
123	RUVBL1	RuvB Like AAA ATPase 1	Protein Coding	1
124	ZFYVE9	Zinc Finger FYVE-Type Containing 9	Protein Coding	1
125	SAV1	Salvador Family WW Domain Containing Protein 1	Protein Coding	1
126	SCRIB	Scribble Planar Cell Polarity Protein	Protein Coding	1
127	SERPINE1	Serpin Family E Member 1	Protein Coding	1
128	SFRP1	Secreted Frizzled Related Protein 1	Protein Coding	1
129	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
130	SIX1	SIX Homeobox 1	Protein Coding	1
131	SKIL	SKI Like Proto-Oncogene	Protein Coding	1
132	SMAD1	SMAD Family Member 1	Protein Coding	1
133	SMAD2	SMAD Family Member 2	Protein Coding	1
134	SMAD3	SMAD Family Member 3	Protein Coding	1
135	SMAD4	SMAD Family Member 4	Protein Coding	1
136	SMAD5	SMAD Family Member 5	Protein Coding	1
137	SMAD9	SMAD Family Member 9	Protein Coding	1
138	SMURF1	SMAD Specific E3 Ubiquitin Protein Ligase 1	Protein Coding	1
139	SMURF2	SMAD Specific E3 Ubiquitin Protein Ligase 2	Protein Coding	1
140	SNAI1	Snail Family Transcriptional Repressor 1	Protein Coding	1
141	SNAI2	Snail Family Transcriptional Repressor 2	Protein Coding	1
142	SOX2	SRY-Box Transcription Factor 2	Protein Coding	1
143	SP1	Sp1 Transcription Factor	Protein Coding	1
144	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	1
145	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1
146	TAB1	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 1	Protein Coding	1
147	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	1
148	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	1
149	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	1
150	WWTR1	WW Domain Containing Transcription Regulator 1	Protein Coding	1
151	TBK1	TANK Binding Kinase 1	Protein Coding	1
152	TCF12	Transcription Factor 12	Protein Coding	1
153	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	1
154	TCF7	Transcription Factor 7	Protein Coding	1
155	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	1
156	ZEB1	Zinc Finger E-Box Binding Homeobox 1	Protein Coding	1
157	CRIPTO	Cripto, EGF-CFC Family Member	Protein Coding	1
158	TEAD1	TEA Domain Transcription Factor 1	Protein Coding	1
159	TEAD2	TEA Domain Transcription Factor 2	Protein Coding	1
160	TEAD3	TEA Domain Transcription Factor 3	Protein Coding	1
161	TEAD4	TEA Domain Transcription Factor 4	Protein Coding	1
162	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
163	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1
164	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	1
165	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1
166	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	1
167	TRIM33	Tripartite Motif Containing 33	Protein Coding	1
168	TLE1	TLE Family Member 1, Transcriptional Corepressor	Protein Coding	1
169	TLE2	TLE Family Member 2, Transcriptional Corepressor	Protein Coding	1
170	TLE3	TLE Family Member 3, Transcriptional Corepressor	Protein Coding	1
171	TLE4	TLE Family Member 4, Transcriptional Corepressor	Protein Coding	1
172	TRIB2	Tribbles Pseudokinase 2	Protein Coding	1
173	USP15	Ubiquitin Specific Peptidase 15	Protein Coding	1
174	UTF1	Undifferentiated Embryonic Cell Transcription Factor 1	Protein Coding	1
175	VANGL1	VANGL Planar Cell Polarity Protein 1	Protein Coding	1
176	WBP2	WW Domain Binding Protein 2	Protein Coding	1
177	WIF1	Wnt Inhibitory Factor 1	Protein Coding	1
178	WNT3A	Wnt Family Member 3A	Protein Coding	1
179	WNT5A	Wnt Family Member 5A	Protein Coding	1
180	WNT5B	Wnt Family Member 5B	Protein Coding	1
181	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	1
182	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	1

Disorders associated with Wnt / Hedgehog / Notch SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Microform holoprosencephaly	Enrichment	CRIPTO, DLL1, GLI2, PTCH1, SHH, SUFU	7.41
2	Loeys-dietz syndrome	Enrichment	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1	7.30
3	Medulloblastoma	Enrichment	APC, CTNNB1, PTCH1, PTCH2, SUFU	6.13
4	Septopreoptic holoprosencephaly	Enrichment	CRIPTO, DLL1, GLI2, PTCH1, SHH	5.96
5	Midline interhemispheric variant of holoprosencephaly	Enrichment	CRIPTO, DLL1, GLI2, PTCH1, SHH	5.96
6	Lobar holoprosencephaly	Enrichment	CRIPTO, DLL1, GLI2, PTCH1, SHH	5.80
7	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1	5.76
8	Alobar holoprosencephaly	Enrichment	CRIPTO, DLL1, GLI2, PTCH1, SHH	5.65
9	Semilobar holoprosencephaly	Enrichment	CRIPTO, DLL1, GLI2, PTCH1, SHH	5.51
10	Tooth agenesis, selective, 1	Enrichment	AXIN2, BMPR2, MSX1, PAX9	5.43
11	Basal cell nevus syndrome 1	Enrichment	PTCH1, PTCH2, SUFU	4.34
12	Polycystic liver disease	Enrichment	CTNNB1, LRP5, LRP6, RUVBL1	4.19
13	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1, LRP5, LRP6, RUVBL1	4.19
14	Adams-oliver syndrome	Enrichment	DLL4, NOTCH1, RBPJ	4.10
15	Osteopathia striata with cranial sclerosis	Enrichment	AMER1, CTNNB1	3.75
16	Fibrodysplasia ossificans progressiva	Enrichment	ACVR1, BMPR2	3.75
17	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	3.75
18	Tooth agenesis	Enrichment	AXIN2, LRP6, MSX1, PAX9	3.72
19	Heritable pulmonary arterial hypertension	Enrichment	BMPR2, ENG, SMAD9	3.44
20	Desmoid disease, hereditary	Enrichment	APC, CTNNB1	3.27
21	Osteoporosis, juvenile	Enrichment	DKK1, WNT3A	3.27
22	Alzheimer disease 4	Enrichment	PSEN1, PSEN2	3.27
23	Desmoid tumor	Enrichment	APC, CTNNB1	3.27
24	Loeys-dietz syndrome 1	Enrichment	SMAD2, TGFBR1	3.27
25	Pulmonary arterial hypertension associated with congenital heart disease	Enrichment	BMPR2, SMAD9	3.27
26	Keratoacanthoma	Enrichment	NOTCH1, NOTCH2	3.27
27	Aortic valve disease 1	Enrichment	NKX2-5, NOTCH1, TAB2	3.21
28	Microphthalmia/coloboma 12	Enrichment	FZD5, PAX2, YAP1	3.21
29	Coloboma of macula	Enrichment	FZD5, PAX2, YAP1	3.02
30	Polydactyly, preaxial ii	Enrichment	PTCH1, SHH	2.98
31	Robinow syndrome, autosomal dominant 1	Enrichment	DVL3, WNT5A	2.98
32	Malignant epithelioid hemangioendothelioma	Enrichment	WWTR1, YAP1	2.98
33	Aortic aneurysm	Enrichment	SMAD3, TGFBR1	2.98
34	Craniopharyngioma	Enrichment	APC, CTNNB1	2.98
35	Corneal dystrophy	Enrichment	TGFBI, ZEB1	2.98
36	Autosomal dominant robinow syndrome	Enrichment	DVL3, WNT5A	2.98
37	Pseudomyogenic hemangioendothelioma	Enrichment	SERPINE1, WWTR1	2.98
38	Exudative vitreoretinopathy 1	Enrichment	CTNNB1, LRP5	2.76
39	Robinow syndrome, autosomal recessive 1	Enrichment	DVL3, WNT5A	2.76
40	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	ENG, SMAD4	2.76
41	Familial cerebral saccular aneurysm	Enrichment	ENG, TGFBR3	2.76
42	Inherited cancer-predisposing syndrome	Enrichment	APC, AXIN2, CDC73, CYLD, PTCH1, SMAD4, SUFU	2.70
43	Macs syndrome	Enrichment	PTCH1, SHH, SOX2	2.64
44	Atrial septal defect 1	Enrichment	FOXP1, TGFB2	2.59
45	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	ENG, PSEN1	2.59
46	Basal cell carcinoma 1	Enrichment	PTCH1, PTCH2	2.59
47	Autosomal recessive robinow syndrome	Enrichment	DVL3, WNT5A	2.59
48	Spondylocostal dysostosis, autosomal recessive	Enrichment	DLL3, LFNG	2.59
49	Hepatoblastoma	Enrichment	APC, CTNNB1, JAG1	2.58
50	Hepatocellular carcinoma	Enrichment	APC, AXIN1, CTNNB1	2.52
51	Gallbladder cancer	Enrichment	CTNNB1, SMAD4	2.44
52	Hereditary hemorrhagic telangiectasia	Enrichment	ENG, SMAD4	2.44
53	Early-onset autosomal dominant alzheimer disease	Enrichment	PSEN1, PSEN2	2.44
54	Exudative vitreoretinopathy	Enrichment	CTNNB1, LRP5	2.32
55	Hypoplastic left heart syndrome	Enrichment	NKX2-5, NOTCH1	2.32
56	Tetralogy of fallot	Enrichment	JAG1, NKX2-5, NOTCH1	2.31
57	Adult hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1	2.22
58	Progressive non-fluent aphasia	Enrichment	PSEN1, TBK1	2.22
59	Colorectal cancer	Enrichment	AMER1, APC, AXIN2, CTNNB1, SMAD4	2.20
60	Marfan syndrome	Enrichment	TGFB2, TGFBR1	2.12
61	Migraine with or without aura 1	Enrichment	NOTCH3, TAB2	2.04
62	Septooptic dysplasia	Enrichment	SHH, SOX2	1.97
63	Neural tube defects	Enrichment	SCRIB, VANGL1	1.90
64	Pulmonary hypertension, primary, 1	Enrichment	BMPR2, ENG	1.90
65	Holoprosencephaly 3	Enrichment	SHH	1.87
66	Corneal dystrophy, epithelial basement membrane	Enrichment	TGFBI	1.87
67	Craniofacial-deafness-hand syndrome	Enrichment	PAX3	1.87
68	Chiari malformation type i	Enrichment	DKK1	1.87
69	Corneal dystrophy, groenouw type i	Enrichment	TGFBI	1.87
70	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	1.87
71	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	1.87
72	Endosteal hyperostosis, autosomal dominant	Enrichment	LRP5	1.87
73	Nail disorder, nonsyndromic congenital, 1	Enrichment	FZD6	1.87
74	Waardenburg syndrome, type 3	Enrichment	PAX3	1.87
75	Chand syndrome	Enrichment	RIPK4	1.87
76	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	1.87
77	Bone mineral density quantitative trait locus 1	Enrichment	LRP5	1.87
78	Exudative vitreoretinopathy 4	Enrichment	LRP5	1.87
79	Corneal dystrophy, avellino type	Enrichment	TGFBI	1.87
80	Spondylocostal dysostosis 3, autosomal recessive	Enrichment	LFNG	1.87
81	Immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	Enrichment	FOXP3	1.87
82	Oligodontia-colorectal cancer syndrome	Enrichment	AXIN2	1.87
83	Parathyroid carcinoma	Enrichment	CDC73	1.87
84	Schilbach-rott syndrome	Enrichment	PTCH1	1.87
85	Stargardt disease 4	Enrichment	PROM1	1.87
86	Tooth agenesis, selective, 3	Enrichment	PAX9	1.87
87	Hypophosphatasia, adult	Enrichment	ALPL	1.87
88	Hajdu-cheney syndrome	Enrichment	NOTCH2	1.87
89	Alagille syndrome 2	Enrichment	NOTCH2	1.87
90	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	1.87
91	Acne inversa, familial, 1	Enrichment	NCSTN	1.87
92	Hyperparathyroidism 2 with jaw tumors	Enrichment	CDC73	1.87
93	Memory quantitative trait locus	Enrichment	WWC1	1.87
94	Microphthalmia/coloboma 5	Enrichment	SHH	1.87
95	Polydactyly, preaxial i	Enrichment	GLI1	1.87
96	Earlobe crease	Enrichment	FOXP1	1.87
97	Corneal dystrophy, lattice type i	Enrichment	TGFBI	1.87
98	Lateral meningocele syndrome	Enrichment	NOTCH3	1.87
99	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	1.87
100	Dyskeratosis congenita, autosomal recessive 6	Enrichment	PARN	1.87
101	Hypophosphatasia, childhood	Enrichment	ALPL	1.87
102	Tooth agenesis, selective, 7	Enrichment	LRP6	1.87
103	Caudal duplication anomaly	Enrichment	AXIN1	1.87
104	Advanced sleep phase syndrome, familial, 2	Enrichment	CSNK1D	1.87
105	Macular dystrophy, retinal, 2	Enrichment	PROM1	1.87
106	Culler-jones syndrome	Enrichment	GLI2	1.87
107	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	1.87
108	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	1.87
109	Exudative vitreoretinopathy 8	Enrichment	LRP6	1.87
110	Charcot-marie-tooth disease, axonal, type 2hh	Enrichment	JAG1	1.87
111	Corneal dystrophy, thiel-behnke type	Enrichment	TGFBI	1.87
112	Alpha-fetoprotein, hereditary persistence of	Enrichment	AFP	1.87
113	Adams-oliver syndrome 6	Enrichment	DLL4	1.87
114	Polydactyly, postaxial, type a8	Enrichment	GLI1	1.87
115	Joubert syndrome 32	Enrichment	SUFU	1.87
116	Osteogenesis imperfecta, type xx	Enrichment	MESD	1.87
117	Hyperemesis gravidarum	Enrichment	GDF15	1.87
118	Microphthalmia, syndromic 6	Enrichment	BMP4	1.87
119	Bartsocas-papas syndrome 1	Enrichment	RIPK4	1.87
120	Immunodeficiency 110 with lymphoproliferation	Enrichment	STK4	1.87
121	Orofacial cleft 11	Enrichment	BMP4	1.87
122	Epithelial-stromal tgfbi dystrophy	Enrichment	TGFBI	1.87
123	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	1.87
124	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	1.87
125	Osteoporosis-pseudoglioma syndrome	Enrichment	LRP5	1.87
126	Deafness, autosomal dominant 23	Enrichment	SIX1	1.87
127	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	1.87
128	Coronary artery disease, autosomal dominant 2	Enrichment	LRP6	1.87
129	Camurati-engelmann disease 2	Enrichment	TGFB2	1.87
130	Corneal dystrophy, lattice type iiia	Enrichment	TGFBI	1.87
131	Polycystic liver disease 4 with or without kidney cysts	Enrichment	LRP5	1.87
132	Corneal dystrophy, reis-bucklers type	Enrichment	TGFBI	1.87
133	Autoimmune disease, multisystem, with facial dysmorphism	Enrichment	ITCH	1.87
134	Holoprosencephaly 9	Enrichment	GLI2	1.87
135	Granular corneal dystrophy	Enrichment	TGFBI	1.87
136	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	1.87
137	Ventricular septal defect 3	Enrichment	NKX2-5	1.87
138	Iron overload	Enrichment	BMP6	1.87
139	Craniosynostosis 3	Enrichment	TCF12	1.87
140	Pulmonary hypertension, primary, 2	Enrichment	SMAD9	1.87
141	Myofibromatosis, infantile, 2	Enrichment	NOTCH3	1.87
142	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4	Enrichment	PARN	1.87
143	Alpha-fetoprotein deficiency	Enrichment	AFP	1.87
144	Loeys-dietz syndrome 6	Enrichment	SMAD2	1.87
145	Retinitis pigmentosa 41	Enrichment	PROM1	1.87
146	Microphthalmia/coloboma 11	Enrichment	FZD5	1.87
147	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	1.87
148	Autoinflammation with arthritis and vasculitis	Enrichment	TBK1	1.87
149	Cdc73-related disorders	Enrichment	CDC73	1.87
150	Choanal atresia and lymphedema	Enrichment	PTPN14	1.87
151	Acne inversa, familial, 3	Enrichment	PSEN1	1.87
152	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	1.87
153	Loeys-dietz syndrome 5	Enrichment	TGFB3	1.87
154	Visual impairment and progressive phthisis bulbi	Enrichment	MARK3	1.87
155	Muscular dystrophy, limb-girdle, autosomal recessive 27	Enrichment	JAG2	1.87
156	Deafness, autosomal recessive 107	Enrichment	WBP2	1.87
157	Corticobasal syndrome	Enrichment	TBK1	1.87
158	Prenatal benign hypophosphatasia	Enrichment	ALPL	1.87
159	Deafness, congenital heart defects, and posterior embryotoxon	Enrichment	JAG1	1.87
160	Periventricular nodular heterotopia 7	Enrichment	NEDD4L	1.87
161	Encephalopathy, acute, infection-induced 8	Enrichment	TBK1	1.87
162	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	1.87
163	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	1.87
164	Adenoid ameloblastoma	Enrichment	CTNNB1	1.87
165	Epithelial basement membrane dystrophy	Enrichment	TGFBI	1.87
166	Heritable thoracic aortic disease	Enrichment	SMAD4	1.87
167	Syndromic multisystem autoimmune disease due to itch deficiency	Enrichment	ITCH	1.87
168	Lrp5-related primary osteoporosis	Enrichment	LRP5	1.87
169	Sirenomelia	Enrichment	CDX2	1.87
170	Oculovertebral syndrome	Enrichment	NR6A1	1.87
171	Developmental dysplasia of the hip 4	Enrichment	TRIM33	1.87
172	Transient cerebral ischemia	Enrichment	NOTCH3	1.87
173	Aortic arch interruption	Enrichment	NKX2-5	1.87
174	Primary pulmonary hypertension	Enrichment	BMPR2	1.87
175	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Enrichment	NOTCH3	1.87
176	Pulmonary hypertension	Enrichment	BMPR2	1.87
177	Turner syndrome	Enrichment	PTCH1	1.87
178	Familial adenomatous polyposis	Enrichment	APC	1.87
179	Drug- or toxin-induced pulmonary arterial hypertension	Enrichment	BMPR2	1.87
180	Atrial heart septal defect 7	Enrichment	NKX2-5	1.87
181	7q31 microdeletion syndrome	Enrichment	FOXP2	1.87
182	Hypogonadotropic hypogonadism 26 with or without anosmia	Enrichment	TCF12	1.87
183	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	1.87
184	Monosomy 9q22.3	Enrichment	PTCH1	1.87
185	Anorectal malformation	Enrichment	CDX2	1.87
186	Pax2-related disorder	Enrichment	PAX2	1.87
187	Gardner syndrome	Enrichment	APC	1.87
188	Osteosclerosis-developmental delay-craniosynostosis syndrome	Enrichment	LRP5	1.87
189	Lymphedema-posterior choanal atresia syndrome	Enrichment	PTPN14	1.87
190	5q22 microdeletion syndrome	Enrichment	APC	1.87
191	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Enrichment	GLI2	1.87
192	Pash syndrome	Enrichment	NCSTN	1.87
193	Attenuated familial adenomatous polyposis	Enrichment	APC	1.87
194	Huntington's disease-like	Enrichment	PSEN2	1.87
195	Autosomal dominant nonsyndromic hearing loss 23	Enrichment	SIX1	1.87
196	Dislocation of the hip-dysmorphism syndrome	Enrichment	TRIM33	1.87
197	Microcystic stromal tumor	Enrichment	CTNNB1	1.87
198	Polyvalvular heart disease syndrome	Enrichment	TAB2	1.87
199	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	1.87
200	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1, SMAD3	1.83
201	Cleft lip/palate	Enrichment	BMP4, MSX1	1.83
202	Polydactyly, postaxial, type a1	Enrichment	GLI1, PTCH1	1.78
203	Patent foramen ovale	Enrichment	NKX2-5, TAB2	1.62
204	Ehlers-danlos syndrome	Enrichment	SMAD3, TGFB2	1.58
205	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	1.57
206	Blepharocheilodontic syndrome 1	Enrichment	CTNND1	1.57
207	Papillorenal syndrome	Enrichment	PAX2	1.57
208	Sveinsson chorioretinal atrophy	Enrichment	TEAD1	1.57
209	Deafness, unilateral	Enrichment	SIX1	1.57
210	Cylindromatosis, familial	Enrichment	CYLD	1.57
211	Myhre syndrome	Enrichment	SMAD4	1.57
212	Camurati-engelmann disease 1	Enrichment	TGFB1	1.57
213	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	Enrichment	FOXP3	1.57
214	Van buchem disease	Enrichment	LRP5	1.57
215	Kyphomelic dysplasia	Enrichment	CCN2	1.57
216	Pulmonary venoocclusive disease 1, autosomal dominant	Enrichment	BMPR2	1.57
217	Trichoepithelioma, multiple familial, 1	Enrichment	CYLD	1.57
218	Alzheimer disease 3	Enrichment	PSEN1	1.57
219	Myopathy, x-linked, with postural muscle atrophy	Enrichment	EMD	1.57
220	Pulmonary arteriovenous fistulas	Enrichment	ENG	1.57
221	Loeys-dietz syndrome 2	Enrichment	TGFBR1	1.57
222	Hyperparathyroidism 1	Enrichment	CDC73	1.57
223	Branchiootic syndrome 3	Enrichment	SIX1	1.57
224	Pick disease of brain	Enrichment	PSEN1	1.57
225	Piebald trait	Enrichment	SNAI2	1.57
226	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	1.57
227	Solitary median maxillary central incisor	Enrichment	SHH	1.57
228	Orofacial cleft 5	Enrichment	MSX1	1.57
229	Adams-oliver syndrome 5	Enrichment	NOTCH1	1.57
230	White-sutton syndrome	Enrichment	GLI2	1.57
231	Robinow syndrome, autosomal dominant 3	Enrichment	DVL3	1.57
232	Witkop syndrome	Enrichment	MSX1	1.57
233	Intellectual developmental disorder with language impairment and with or without autistic features	Enrichment	FOXP1	1.57
234	Loeys-dietz syndrome 3	Enrichment	SMAD3	1.57
235	Adams-oliver syndrome 3	Enrichment	RBPJ	1.57
236	Spondyloepimetaphyseal dysplasia, li-shao-li type	Enrichment	CCN2	1.57
237	Charcot-marie-tooth disease, demyelinating, type 4d	Enrichment	NDRG1	1.57
238	Blepharocheilodontic syndrome 2	Enrichment	CTNND1	1.57
239	Alpha-thalassemia/impaired intellectual development syndrome, x-linked	Enrichment	ALPL	1.57
240	Immunodeficiency, common variable, 15	Enrichment	RUVBL1	1.57
241	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Enrichment	DLL1	1.57
242	Neurodevelopmental disorder with developmental delay and with or without motor or speech delay	Enrichment	CUX1	1.57
243	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.57
244	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Enrichment	CYLD	1.57
245	Infantile myofibromatosis	Enrichment	NOTCH3	1.57
246	Pulmonary venoocclusive disease 1	Enrichment	BMPR2	1.57
247	Brooke-spiegler syndrome	Enrichment	CYLD	1.57
248	Retinitis pigmentosa 14	Enrichment	TEAD3	1.57
249	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.57
250	Left ventricular noncompaction 7	Enrichment	MIB1	1.57
251	Branchiootic syndrome	Enrichment	SIX1	1.57
252	Acute basophilic leukemia	Enrichment	MYB	1.57
253	Focal segmental glomerulosclerosis 7	Enrichment	PAX2	1.57
254	Split hand-foot malformation	Enrichment	LEF1	1.57
255	Central precocious puberty	Enrichment	DLK1	1.57
256	Lipodystrophy, familial partial, type 1	Enrichment	NOTCH3	1.57
257	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Enrichment	TBK1	1.57
258	Osteogenesis imperfecta, type xvii	Enrichment	SPARC	1.57
259	Depressive disorder	Enrichment	NOTCH3	1.57
260	Camurati-engelmann disease	Enrichment	TGFB1	1.57
261	Congenital fibrosarcoma	Enrichment	SUFU	1.57
262	Branchiootic syndrome 1	Enrichment	SIX1	1.57
263	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	1.57
264	Angiocentric glioma	Enrichment	MYB	1.57
265	Hypophosphatasia	Enrichment	ALPL	1.57
266	Congenital heart defects, multiple types, 2	Enrichment	TAB2	1.57
267	Periampullary adenoma	Enrichment	APC	1.57
268	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	1.57
269	Alpha thalassemia-x-linked intellectual disability syndrome	Enrichment	ALPL	1.57
270	Hereditary mixed polyposis syndrome	Enrichment	GREM1	1.57
271	Familial isolated congenital asplenia	Enrichment	NKX2-5	1.57
272	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.57
273	Charcot-marie-tooth disease type 4d	Enrichment	NDRG1	1.57
274	Basal cell nevus syndrome 2	Enrichment	SUFU	1.57
275	Postaxial polydactyly type b	Enrichment	GLI1	1.57
276	Deletion 5q35	Enrichment	NKX2-5	1.57
277	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome	Enrichment	TAB2	1.57
278	Pulmonary venoocclusive disease	Enrichment	BMPR2	1.57
279	Teratoma	Enrichment	CTNNB1	1.57
280	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	FOXP1	1.57
281	Osteosclerosis	Enrichment	LRP5	1.57
282	Renal hypoplasia, bilateral	Enrichment	PAX2	1.57
283	Isolated radial hemimelia	Enrichment	SHH	1.57
284	Commissural facial cleft	Enrichment	PTCH2	1.57
285	X-linked emery-dreifuss muscular dystrophy	Enrichment	EMD	1.57
286	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	BMPR2	1.57
287	Malignant peritoneal mesothelioma	Enrichment	LATS1	1.57
288	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)	Enrichment	PAX5	1.57
289	Craniosynostosis	Enrichment	GLI2, TCF12	1.54
290	Microphthalmia	Enrichment	PTCH1, SOX2	1.46
291	Brittle bone disorder	Enrichment	ALPL, LRP5	1.42
292	Myeloma, multiple	Enrichment	CYLD, LATS1, YAP1	1.41
293	Pelvic organ prolapse	Enrichment	TAB2	1.40
294	Alagille syndrome 1	Enrichment	JAG1	1.40
295	Juvenile polyposis syndrome	Enrichment	SMAD4	1.40
296	Hypophosphatasia, infantile	Enrichment	ALPL	1.40
297	Syndactyly, type iv	Enrichment	SHH	1.40
298	Osteopetrosis, autosomal dominant 1	Enrichment	LRP5	1.40
299	Autoimmune disease 1	Enrichment	FOXD3	1.40
300	Corneal dystrophy, posterior polymorphous, 3	Enrichment	ZEB1	1.40
301	Corneal dystrophy, fuchs endothelial, 6	Enrichment	ZEB1	1.40
302	Cone-rod dystrophy 12	Enrichment	PROM1	1.40
303	Chromosome 5q14.3 deletion syndrome, distal	Enrichment	NEDD4L	1.40
304	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.40
305	Holoprosencephaly 7	Enrichment	PTCH1	1.40
306	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.40
307	Anus, imperforate	Enrichment	CTNNB1	1.40
308	Neurodevelopmental disorder with progressive spasticity and brain abnormalities	Enrichment	RUVBL1	1.40
309	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.40
310	Precocious puberty, central, 2	Enrichment	DLK1	1.40
311	Nail disease	Enrichment	FZD6	1.40
312	Leukodystrophy and acquired microcephaly with or without dystonia	Enrichment	DLL3	1.40
313	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	1.40
314	Frontometaphyseal dysplasia	Enrichment	MAP3K7	1.40
315	Intraocular pressure quantitative trait locus	Enrichment	ZEB1	1.40
316	Migraine without aura	Enrichment	NOTCH3	1.40
317	Parathyroid adenoma	Enrichment	CDC73	1.40
318	Desmoplastic/nodular medulloblastoma	Enrichment	SUFU	1.40
319	Adenoid cystic carcinoma	Enrichment	MYB	1.40
320	Childhood apraxia of speech	Enrichment	FOXP2	1.40
321	Familial isolated hyperparathyroidism	Enrichment	CDC73	1.40
322	Colon adenocarcinoma	Enrichment	APC	1.40
323	Advanced sleep phase syndrome	Enrichment	CSNK1D	1.40
324	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	1.40
325	Apc-associated polyposis conditions	Enrichment	APC	1.40
326	Primary ovarian insufficiency	Enrichment	AFP, BMP6, NOTCH2	1.35
327	Ovarian cancer	Enrichment	APC, AXIN2, CTNNB1, PTCH1	1.33
328	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DVL2	1.28
329	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	EMD	1.28
330	Microphthalmia, syndromic 3	Enrichment	SOX2	1.28
331	Schizencephaly	Enrichment	SHH	1.28
332	Sacral defect with anterior meningocele	Enrichment	VANGL1	1.28
333	Polyposis syndrome, hereditary mixed, 1	Enrichment	GREM1	1.28
334	Kagami-ogata syndrome	Enrichment	DLK1	1.28
335	Persistent mullerian duct syndrome, types i and ii	Enrichment	AMHR2	1.28
336	Orofaciodigital syndrome iii	Enrichment	CELSR2	1.28
337	Pilomatrixoma	Enrichment	CTNNB1	1.28
338	Temple syndrome	Enrichment	DLK1	1.28
339	Alazami syndrome	Enrichment	CTNNB1	1.28
340	Emery-dreifuss muscular dystrophy	Enrichment	EMD	1.28
341	Dowling-degos disease	Enrichment	PSENEN	1.28
342	Orofacial cleft	Enrichment	LRP6	1.28
343	Retinopathy of prematurity	Enrichment	LRP5	1.28
344	Cerebrovascular disease	Enrichment	NOTCH3	1.28
345	Persistent mullerian duct syndrome	Enrichment	AMHR2	1.28
346	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5	1.28
347	Eyelid coloboma	Enrichment	FZD5	1.28
348	Non-syndromic bicoronal craniosynostosis	Enrichment	TCF12	1.28
349	Genetic central precocious puberty in male	Enrichment	DLK1	1.28
350	Vitreoretinopathy	Enrichment	LRP5	1.28
351	Orofacial clefting syndrome	Enrichment	LRP6	1.28
352	Middle aortic syndrome	Enrichment	JAG1	1.28
353	Cleft lip and alveolus	Enrichment	MSX1	1.28
354	Oculomotor apraxia	Enrichment	SUFU	1.28
355	Lens coloboma	Enrichment	FZD5	1.28
356	Lymphoma, mucosa-associated lymphoid type	Enrichment	FOXP1	1.18
357	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.18
358	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Enrichment	NOTCH3	1.18
359	Rhabdomyosarcoma 2	Enrichment	PAX3	1.18
360	Chondrosarcoma, extraskeletal myxoid	Enrichment	TCF12	1.18
361	Familial adenomatous polyposis 1	Enrichment	APC	1.18
362	Ventricular septal defect 1	Enrichment	BMP7	1.18
363	Robinow syndrome, autosomal dominant 2	Enrichment	DVL3	1.18
364	Congenital heart defects, multiple types, 4	Enrichment	BMP7	1.18
365	Fuchs' endothelial dystrophy	Enrichment	ZEB1	1.18
366	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.18
367	Aplasia cutis congenita	Enrichment	DLL4	1.18
368	Vascular dementia	Enrichment	NOTCH3	1.18
369	Cleft upper lip	Enrichment	MSX1	1.18
370	Dementia	Enrichment	PSEN1	1.18
371	Herpes simplex virus encephalitis	Enrichment	TBK1	1.18
372	Coloboma of choroid and retina	Enrichment	FZD5	1.18
373	Diffuse cutaneous systemic sclerosis	Enrichment	CCN2	1.18
374	Persistent truncus arteriosus	Enrichment	NKX2-5	1.18
375	Connective tissue disease	Enrichment	NOTCH1, SMAD3	1.17
376	Autism	Enrichment	FOXP1, SHH, TCF7L2	1.14
377	Developmental dysplasia of the hip 1	Enrichment	TRIM33	1.11
378	Coloboma of optic nerve	Enrichment	FZD5	1.11
379	Branchiootorenal syndrome 1	Enrichment	SIX1	1.11
380	Corneal dystrophy, posterior polymorphous, 1	Enrichment	ZEB1	1.11
381	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.11
382	Conotruncal heart malformations	Enrichment	NKX2-5	1.11
383	Split-hand/foot malformation 1	Enrichment	LEF1	1.11
384	Type 1 diabetes mellitus	Enrichment	FOXP3	1.11
385	Anterior segment dysgenesis 5	Enrichment	BMP4	1.11
386	Congenital anomalies of kidney and urinary tract 1	Enrichment	PAX2	1.11
387	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.11
388	Renal hypoplasia	Enrichment	PAX2	1.11
389	Pulmonary fibrosis	Enrichment	PARN	1.11
390	Adrenocortical carcinoma	Enrichment	CTNNB1	1.11
391	Double outlet right ventricle	Enrichment	NKX2-5	1.11
392	Limited scleroderma	Enrichment	CCN2	1.11
393	Hoyeraal-hreidarsson syndrome	Enrichment	PARN	1.11
394	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.11
395	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.11
396	Waardenburg syndrome	Enrichment	PAX3	1.11
397	Cleft lip with or without cleft palate	Enrichment	CTNND1	1.11
398	Breast cancer	Enrichment	APC, CDC73, PTCH2	1.10
399	Left ventricular noncompaction	Enrichment	MIB1, NKX2-5	1.10
400	Multiple endocrine neoplasia, type i	Enrichment	CDC73	1.04
401	Osteogenesis imperfecta, type ii	Enrichment	MESD	1.04
402	Waardenburg syndrome, type 1	Enrichment	PAX3	1.04
403	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5	1.04
404	Waardenburg syndrome, type 2e	Enrichment	SNAI2	1.04
405	Semantic dementia	Enrichment	PSEN1	1.04
406	Branchiootorenal syndrome	Enrichment	SIX1	1.04
407	Motor neuron disease	Enrichment	TBK1	1.04
408	Congenital hydrocephalus	Enrichment	PTCH1	1.04
409	Overgrowth syndrome	Enrichment	PTCH1	1.04
410	Dilated cardiomyopathy	Enrichment	EMD, NKX2-5, TAB2	1.03
411	Hemochromatosis, type 1	Enrichment	BMP6	0.99
412	Leber congenital amaurosis 1	Enrichment	PROM1	0.99
413	Spondylocostal dysostosis 1, autosomal recessive	Enrichment	DLL3	0.99
414	Neuroblastoma	Enrichment	LIN28B	0.99
415	Combined pituitary hormone deficiency	Enrichment	GLI2	0.99
416	Type 2 diabetes mellitus	Enrichment	RBPJ, TCF7L2	0.96
417	Gastric cancer	Enrichment	APC, SMAD4	0.95
418	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	CELSR2	0.94
419	Ellis-van creveld syndrome	Enrichment	GLI1	0.94
420	Leukemia, acute lymphoblastic 3	Enrichment	PAX5	0.94
421	Cystic kidney disease	Enrichment	PAX2	0.94
422	Colonic benign neoplasm	Enrichment	APC	0.94
423	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	0.94
424	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1	0.94
425	Hydrops fetalis	Enrichment	FOXP3	0.94
426	Hereditary breast carcinoma	Enrichment	APC, CDC73	0.93
427	Cat eye syndrome	Enrichment	FZD5	0.90
428	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	TBK1	0.90
429	Peters-plus syndrome	Enrichment	BMP4	0.90
430	Stroke, ischemic	Enrichment	NOTCH3	0.90
431	Stickler syndrome	Enrichment	BMP4	0.90
432	Familial colorectal cancer	Enrichment	GREM1	0.90
433	Isolated tracheo-esophageal fistula	Enrichment	CELSR2	0.90
434	Pectus excavatum	Enrichment	TGFBR1	0.86
435	Frontotemporal dementia 1	Enrichment	PSEN1	0.86
436	Meningioma, familial	Enrichment	SUFU	0.86
437	Leukemia, acute lymphoblastic	Enrichment	PAX5	0.86
438	Nanophthalmos	Enrichment	SOX2	0.86
439	Atrial heart septal defect	Enrichment	NKX2-5	0.86
440	Interatrial communication	Enrichment	NKX2-5	0.86
441	Autosomal dominant non-syndromic intellectual disability	Enrichment	CUX1, DLL1	0.84
442	Epicanthus	Enrichment	ACVR1	0.82
443	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	0.82
444	Meningioma	Enrichment	SUFU	0.82
445	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	0.82
446	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	0.82
447	Familial isolated dilated cardiomyopathy	Enrichment	PSEN1, PSEN2	0.80
448	Osteogenesis imperfecta, type iv	Enrichment	SPARC	0.79
449	Alzheimer's disease	Enrichment	PSEN1	0.79
450	Osteoporosis	Enrichment	LRP5	0.76
451	Periventricular nodular heterotopia	Enrichment	NEDD4L	0.76
452	Heart disease	Enrichment	NKX2-5	0.76
453	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	0.76
454	Isolated macular dystrophy	Enrichment	PROM1	0.76
455	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PSEN1, TBK1	0.74
456	Rare genetic intellectual disability	Enrichment	FOXP1	0.74
457	Rhabdomyosarcoma	Enrichment	PTCH1	0.71
458	Alzheimer disease, familial, 1	Enrichment	PSEN1	0.69
459	Cleft palate, isolated	Enrichment	AMER1	0.69
460	Interstitial lung disease 2	Enrichment	PARN	0.69
461	Heart, malformation of	Enrichment	JAG1	0.67
462	Charcot-marie-tooth disease type 4	Enrichment	NDRG1	0.67
463	Neuromuscular disease	Enrichment	EMD	0.67
464	Arteriovenous malformations of the brain	Enrichment	ENG	0.64
465	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	EMD	0.64
466	Esophageal atresia/tracheoesophageal fistula	Enrichment	CELSR2	0.64
467	Dyskeratosis congenita	Enrichment	PARN	0.64
468	Focal segmental glomerulosclerosis	Enrichment	PAX2	0.63
469	Centronuclear myopathy	Enrichment	FOXP3	0.61
470	Skin disease	Enrichment	NCSTN	0.59
471	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYB	0.57
472	Familial atrial fibrillation	Enrichment	NKX2-5	0.56
473	Pancreatic cancer	Enrichment	SMAD4	0.54
474	Developmental and epileptic encephalopathy 1	Enrichment	CSNK1E	0.54
475	Hydrops fetalis, nonimmune	Enrichment	FZD6	0.53
476	Auditory neuropathy	Enrichment	NOTCH3	0.53
477	Strabismus	Enrichment	FOXP1	0.51
478	Bladder cancer	Enrichment	CTNNB1	0.49
479	Hirschsprung disease 1	Enrichment	AXIN2	0.49
480	Differentiated thyroid carcinoma	Enrichment	TRIM33	0.49
481	Stargardt disease 1	Enrichment	PROM1	0.48
482	Isolated joubert syndrome	Enrichment	SUFU	0.48
483	Non-immune hydrops fetalis	Enrichment	FZD6	0.47
484	Hereditary retinal dystrophy	Enrichment	JAG1, LRP5, PAX2, PROM1, TEAD3	0.46
485	Fundus dystrophy	Enrichment	JAG1, LRP5, PAX2, PROM1, TEAD3	0.46
486	Cystic fibrosis	Enrichment	TGFB1	0.45
487	Usher syndrome	Enrichment	PROM1	0.44
488	Severe combined immunodeficiency	Enrichment	STK4	0.44
489	Leber plus disease	Enrichment	PROM1, TEAD3	0.44
490	Cakut	Enrichment	PAX2	0.43
491	Genetic steroid-resistant nephrotic syndrome	Enrichment	PAX2	0.43
492	Systemic lupus erythematosus	Enrichment	ENG	0.39
493	Congenital nervous system abnormality	Enrichment	CTNNB1, PSEN1	0.38
494	Nervous system disease	Enrichment	CTNNB1, PSEN1	0.38
495	Myopathy	Enrichment	EMD	0.38
496	Charcot-marie-tooth disease	Enrichment	NDRG1	0.37
497	Nephrotic syndrome	Enrichment	PAX2	0.36
498	West syndrome	Enrichment	CSNK1E	0.35
499	Thrombocytopenia	Enrichment	SMAD4	0.32
500	Body mass index quantitative trait locus 11	Enrichment	DIXDC1	0.31
501	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	SIX1	0.30
502	Hereditary breast ovarian cancer syndrome	Enrichment	PTCH1	0.28
503	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GLI2	0.27
504	Cone-rod dystrophy 2	Enrichment	PROM1	0.22
505	Rare genetic deafness	Enrichment	PAX3	0.18
506	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	WBP2	0.15
507	Autism spectrum disorder	Enrichment	TCF12	0.11
508	Microcephaly	Enrichment	CTNNB1	0.09
509	Complex neurodevelopmental disorder	Enrichment	TCF7L2	0.09
510	Retinitis pigmentosa	Enrichment	PROM1	0.02

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

Wnt / Hedgehog / Notch

Pathway Network for Wnt / Hedgehog / Notch

Member Pathways for Wnt / Hedgehog / Notch

Pathways in the Wnt / Hedgehog / Notch SuperPath

Associated Genes for Wnt / Hedgehog / Notch

Associated Disorders for Wnt / Hedgehog / Notch

Disorders associated with Wnt / Hedgehog / Notch SuperPath

STRING Interaction Network for Wnt / Hedgehog / Notch

Sources for Wnt / Hedgehog / Notch