Human Embryonic Stem Cell Pluripotency

No Pathway Network information available for Human Embryonic Stem Cell Pluripotency

Pathways in the Human Embryonic Stem Cell Pluripotency SuperPath

#	Name	Source	Genes
1	Human Embryonic Stem Cell Pluripotency	QIAGEN	ACVR1B ACVR1C AKT1 AKT2 AKT3 APC AXIN1 BMP2 BMP3 BMP4 BMP7 BMPR1A BMPR1B BMPR2 CEBPB CFC1 CHUK CRIPTO CTNNB1 DVL1 FGF2 FGF4 FGFR2 FZD1 FZD10 FZD2 FZD3 FZD4 FZD5 FZD6 FZD7 FZD8 FZD9 GCFC2 GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAS GNAT1 GNAT2 GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GSK3B HNF1A HNF1B HNF4A LEF1 LEFTY1 LEFTY2 NANOG NFE2L1 NOG NTF3 NTF4 NTRK1 NTRK2 NTRK3 PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PDPK1 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 POU5F1 S1PR1 S1PR2 S1PR3 S1PR4 S1PR5 SMAD1 SMAD2 SMAD3 SMAD4 SMAD5 SOX2 SPHK1 TCF12 TCF15 TCF19 TCF20 TCF21 TCF23 TCF3 TCF4 TCF7 TCF7L2 TEAD1 TEAD4 TFAM TGFB1 TGFB2 TGFB3 TGFBR1 UTF1 WNT1 WNT10A WNT10B WNT11 WNT16 WNT2 WNT2B WNT3 WNT3A WNT4 WNT5A WNT5B WNT6 WNT7A WNT7B WNT8A WNT8B WNT9A WNT9B ZEB1 ZNF354A (see all 144) (see less)
2	Factors Promoting Cardiogenesis in Vertebrates	QIAGEN	ACVR1 ACVR1B ACVR2A ACVR2B APC ATF2 AXIN1 BMP10 BMP2 BMP4 BMP5 BMP7 BMPR1A BMPR1B BMPR2 CCNE1 CCNE2 CDC6 CEBPB CER1 CHUK CRIPTO CTNNB1 DKK1 DVL1 E2F1 E2F2 E2F3 E2F4 E2F5 FGF2 FZD1 FZD10 FZD2 FZD3 FZD4 FZD5 FZD6 FZD7 FZD8 FZD9 GATA4 GCFC2 GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAS GNAT1 GNAT2 GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GSK3B HNF1A HNF1B HNF4A LEF1 LEFTY2 MAP3K7 MAPK14 MEF2C MYH7 MYH7B MYL2 NFE2L1 NKX2-5 NOG NOX4 NPPA NPPB PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 RB1 SMAD1 SMAD2 SMAD4 SMAD5 SMAD9 TBX5 TCF12 TCF15 TCF19 TCF20 TCF21 TCF23 TCF3 TCF4 TCF7 TCF7L2 TEAD1 TEAD4 TFAM TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 WNT11 WNT3A WNT8A WNT8B ZEB1 ZNF354A (see all 134) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	ACVR1B	Activin A Receptor Type 1B	Protein Coding	2
2	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	2
3	AXIN1	Axin 1	Protein Coding	2
4	BMP2	Bone Morphogenetic Protein 2	Protein Coding	2
5	BMP4	Bone Morphogenetic Protein 4	Protein Coding	2
6	BMP7	Bone Morphogenetic Protein 7	Protein Coding	2
7	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	2
8	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	2
9	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	2
10	GCFC2	GC-Rich Sequence DNA-Binding Factor 2	Protein Coding	2
11	CEBPB	CCAAT Enhancer Binding Protein Beta	Protein Coding	2
12	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	2
13	CTNNB1	Catenin Beta 1	Protein Coding	2
14	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	2
15	LEFTY2	Left-Right Determination Factor 2	Protein Coding	2
16	FGF2	Fibroblast Growth Factor 2	Protein Coding	2
17	FZD1	Frizzled Class Receptor 1	Protein Coding	2
18	FZD10	Frizzled Class Receptor 10	Protein Coding	2
19	FZD2	Frizzled Class Receptor 2	Protein Coding	2
20	FZD3	Frizzled Class Receptor 3	Protein Coding	2
21	FZD4	Frizzled Class Receptor 4	Protein Coding	2
22	FZD5	Frizzled Class Receptor 5	Protein Coding	2
23	FZD6	Frizzled Class Receptor 6	Protein Coding	2
24	FZD7	Frizzled Class Receptor 7	Protein Coding	2
25	FZD8	Frizzled Class Receptor 8	Protein Coding	2
26	FZD9	Frizzled Class Receptor 9	Protein Coding	2
27	GNA11	G Protein Subunit Alpha 11	Protein Coding	2
28	GNA12	G Protein Subunit Alpha 12	Protein Coding	2
29	GNA13	G Protein Subunit Alpha 13	Protein Coding	2
30	GNA14	G Protein Subunit Alpha 14	Protein Coding	2
31	GNA15	G Protein Subunit Alpha 15	Protein Coding	2
32	GNAI1	G Protein Subunit Alpha I1	Protein Coding	2
33	GNAI2	G Protein Subunit Alpha I2	Protein Coding	2
34	GNAI3	G Protein Subunit Alpha I3	Protein Coding	2
35	GNAL	G Protein Subunit Alpha L	Protein Coding	2
36	GNAO1	G Protein Subunit Alpha O1	Protein Coding	2
37	GNAS	GNAS Complex Locus	Protein Coding	2
38	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	2
39	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	2
40	GNAZ	G Protein Subunit Alpha Z	Protein Coding	2
41	GNB1	G Protein Subunit Beta 1	Protein Coding	2
42	GNB2	G Protein Subunit Beta 2	Protein Coding	2
43	GNB3	G Protein Subunit Beta 3	Protein Coding	2
44	GNB4	G Protein Subunit Beta 4	Protein Coding	2
45	GNB5	G Protein Subunit Beta 5	Protein Coding	2
46	GNG10	G Protein Subunit Gamma 10	Protein Coding	2
47	GNG11	G Protein Subunit Gamma 11	Protein Coding	2
48	GNG12	G Protein Subunit Gamma 12	Protein Coding	2
49	GNG13	G Protein Subunit Gamma 13	Protein Coding	2
50	GNG2	G Protein Subunit Gamma 2	Protein Coding	2
51	GNG3	G Protein Subunit Gamma 3	Protein Coding	2
52	GNG4	G Protein Subunit Gamma 4	Protein Coding	2
53	GNG5	G Protein Subunit Gamma 5	Protein Coding	2
54	GNG7	G Protein Subunit Gamma 7	Protein Coding	2
55	GNG8	G Protein Subunit Gamma 8	Protein Coding	2
56	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	2
57	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	2
58	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
59	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	2
60	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	2
61	SMAD1	SMAD Family Member 1	Protein Coding	2
62	SMAD2	SMAD Family Member 2	Protein Coding	2
63	SMAD4	SMAD Family Member 4	Protein Coding	2
64	SMAD5	SMAD Family Member 5	Protein Coding	2
65	NFE2L1	NFE2 Like BZIP Transcription Factor 1	Protein Coding	2
66	NOG	Noggin	Protein Coding	2
67	HNF1A	HNF1 Homeobox A	Protein Coding	2
68	TCF12	Transcription Factor 12	Protein Coding	2
69	TCF15	Transcription Factor 15	Protein Coding	2
70	TCF19	Transcription Factor 19	Protein Coding	2
71	HNF1B	HNF1 Homeobox B	Protein Coding	2
72	TCF20	Transcription Factor 20	Protein Coding	2
73	TCF21	Transcription Factor 21	Protein Coding	2
74	TCF23	Transcription Factor 23	Protein Coding	2
75	TCF3	Transcription Factor 3	Protein Coding	2
76	TCF4	Transcription Factor 4	Protein Coding	2
77	TCF7	Transcription Factor 7	Protein Coding	2
78	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	2
79	ZEB1	Zinc Finger E-Box Binding Homeobox 1	Protein Coding	2
80	CRIPTO	Cripto, EGF-CFC Family Member	Protein Coding	2
81	TEAD1	TEA Domain Transcription Factor 1	Protein Coding	2
82	TEAD4	TEA Domain Transcription Factor 4	Protein Coding	2
83	TFAM	Transcription Factor A, Mitochondrial	Protein Coding	2
84	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	2
85	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	2
86	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	2
87	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	2
88	WNT11	Wnt Family Member 11	Protein Coding	2
89	WNT3A	Wnt Family Member 3A	Protein Coding	2
90	WNT8A	Wnt Family Member 8A	Protein Coding	2
91	WNT8B	Wnt Family Member 8B	Protein Coding	2
92	ZNF354A	Zinc Finger Protein 354A	Protein Coding	2
93	ACVR1C	Activin A Receptor Type 1C	Protein Coding	1
94	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
95	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
96	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
97	BMP3	Bone Morphogenetic Protein 3	Protein Coding	1
98	CFC1	Cryptic, EGF-CFC Family Member 1	Protein Coding	1
99	S1PR1	Sphingosine-1-Phosphate Receptor 1	Protein Coding	1
100	S1PR3	Sphingosine-1-Phosphate Receptor 3	Protein Coding	1
101	S1PR2	Sphingosine-1-Phosphate Receptor 2	Protein Coding	1
102	S1PR4	Sphingosine-1-Phosphate Receptor 4	Protein Coding	1
103	S1PR5	Sphingosine-1-Phosphate Receptor 5	Protein Coding	1
104	FGF4	Fibroblast Growth Factor 4	Protein Coding	1
105	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
106	LEFTY1	Left-Right Determination Factor 1	Protein Coding	1
107	SMAD3	SMAD Family Member 3	Protein Coding	1
108	NANOG	Nanog Homeobox	Protein Coding	1
109	NTF3	Neurotrophin 3	Protein Coding	1
110	NTF4	Neurotrophin 4	Protein Coding	1
111	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	1
112	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
113	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	1
114	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	1
115	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	1
116	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
117	PDGFC	Platelet Derived Growth Factor C	Protein Coding	1
118	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
119	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
120	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
121	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
122	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
123	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
124	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
125	POU5F1	POU Class 5 Homeobox 1	Protein Coding	1
126	PDGFD	Platelet Derived Growth Factor D	Protein Coding	1
127	SOX2	SRY-Box Transcription Factor 2	Protein Coding	1
128	SPHK1	Sphingosine Kinase 1	Protein Coding	1
129	UTF1	Undifferentiated Embryonic Cell Transcription Factor 1	Protein Coding	1
130	WNT1	Wnt Family Member 1	Protein Coding	1
131	WNT10A	Wnt Family Member 10A	Protein Coding	1
132	WNT10B	Wnt Family Member 10B	Protein Coding	1
133	WNT9A	Wnt Family Member 9A	Protein Coding	1
134	WNT9B	Wnt Family Member 9B	Protein Coding	1
135	WNT16	Wnt Family Member 16	Protein Coding	1
136	WNT2	Wnt Family Member 2	Protein Coding	1
137	WNT2B	Wnt Family Member 2B	Protein Coding	1
138	WNT3	Wnt Family Member 3	Protein Coding	1
139	WNT4	Wnt Family Member 4	Protein Coding	1
140	WNT5A	Wnt Family Member 5A	Protein Coding	1
141	WNT5B	Wnt Family Member 5B	Protein Coding	1
142	WNT6	Wnt Family Member 6	Protein Coding	1
143	WNT7A	Wnt Family Member 7A	Protein Coding	1
144	WNT7B	Wnt Family Member 7B	Protein Coding	1
145	ACVR1	Activin A Receptor Type 1	Protein Coding	1
146	ACVR2A	Activin A Receptor Type 2A	Protein Coding	1
147	ACVR2B	Activin A Receptor Type 2B	Protein Coding	1
148	ATF2	Activating Transcription Factor 2	Protein Coding	1
149	BMP10	Bone Morphogenetic Protein 10	Protein Coding	1
150	BMP5	Bone Morphogenetic Protein 5	Protein Coding	1
151	CCNE1	Cyclin E1	Protein Coding	1
152	CCNE2	Cyclin E2	Protein Coding	1
153	CDC6	Cell Division Cycle 6	Protein Coding	1
154	CER1	Cerberus 1, DAN Family BMP Antagonist	Protein Coding	1
155	DKK1	Dickkopf Wnt Signaling Pathway Inhibitor 1	Protein Coding	1
156	E2F1	E2F Transcription Factor 1	Protein Coding	1
157	E2F2	E2F Transcription Factor 2	Protein Coding	1
158	E2F3	E2F Transcription Factor 3	Protein Coding	1
159	E2F4	E2F Transcription Factor 4	Protein Coding	1
160	E2F5	E2F Transcription Factor 5	Protein Coding	1
161	GATA4	GATA Binding Protein 4	Protein Coding	1
162	SMAD9	SMAD Family Member 9	Protein Coding	1
163	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	1
164	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
165	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
166	MYH7	Myosin Heavy Chain 7	Protein Coding	1
167	MYH7B	Myosin Heavy Chain 7B	Protein Coding	1
168	MYL2	Myosin Light Chain 2	Protein Coding	1
169	NKX2-5	NK2 Homeobox 5	Protein Coding	1
170	NOX4	NADPH Oxidase 4	Protein Coding	1
171	NPPA	Natriuretic Peptide A	Protein Coding	1
172	NPPB	Natriuretic Peptide B	Protein Coding	1
173	PRKCA	Protein Kinase C Alpha	Protein Coding	1
174	PRKCB	Protein Kinase C Beta	Protein Coding	1
175	PRKCD	Protein Kinase C Delta	Protein Coding	1
176	PRKCE	Protein Kinase C Epsilon	Protein Coding	1
177	PRKCG	Protein Kinase C Gamma	Protein Coding	1
178	PRKCH	Protein Kinase C Eta	Protein Coding	1
179	PRKCI	Protein Kinase C Iota	Protein Coding	1
180	PRKD1	Protein Kinase D1	Protein Coding	1
181	PRKD3	Protein Kinase D3	Protein Coding	1
182	PRKCQ	Protein Kinase C Theta	Protein Coding	1
183	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
184	RB1	RB Transcriptional Corepressor 1	Protein Coding	1
185	TBX5	T-Box Transcription Factor 5	Protein Coding	1
186	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	1

Disorders associated with Human Embryonic Stem Cell Pluripotency SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Loeys-dietz syndrome	Enrichment	SMAD2, TGFB2, TGFB3, TGFBR1, TGFBR2	7.97
2	Loeys-dietz syndrome 1	Enrichment	SMAD2, TGFBR1, TGFBR2	6.03
3	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SMAD2, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2	5.37
4	Robinow syndrome, autosomal dominant 1	Enrichment	DVL1, FZD2, WNT5A	5.33
5	Autosomal dominant robinow syndrome	Enrichment	DVL1, FZD2, WNT5A	5.33
6	Heart disease	Enrichment	GATA4, MYL2, NKX2-5, TBX5	5.07
7	Ventricular septal defect 1	Enrichment	BMP2, BMP7, GATA4	5.03
8	Robinow syndrome, autosomal recessive 1	Enrichment	DVL1, FZD2, WNT5A	4.94
9	Ovarian cancer	Enrichment	AKT1, APC, BMPR1A, CTNNB1, HNF1A, HNF1B, NTRK1, PDGFRA	4.93
10	Atrial septal defect 1	Enrichment	BMP2, TBX5, TGFB2	4.73
11	Autosomal recessive robinow syndrome	Enrichment	DVL1, FZD2, WNT5A	4.64
12	Colorectal cancer	Enrichment	AKT1, APC, CTNNB1, FGFR2, FZD3, PIK3R1, SMAD4	4.42
13	Type 2 diabetes mellitus	Enrichment	AKT2, HNF1A, HNF1B, HNF4A, TCF7L2	4.11
14	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	4.01
15	Fibrodysplasia ossificans progressiva	Enrichment	ACVR1, BMPR2	4.01
16	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	4.01
17	Hyperinsulinism due to hnf1a deficiency	Enrichment	HNF1A, HNF4A	4.01
18	Marfan syndrome	Enrichment	TGFB2, TGFBR1, TGFBR2	3.97
19	Split hand-foot malformation	Enrichment	FGFR2, LEF1	3.95
20	Desmoid disease, hereditary	Enrichment	APC, CTNNB1	3.54
21	Juvenile polyposis syndrome	Enrichment	BMPR1A, SMAD4	3.54
22	Osteoporosis, juvenile	Enrichment	DKK1, WNT3A	3.54
23	Transposition of the great arteries, dextro-looped	Enrichment	ACVR1B, BMP2	3.54
24	Desmoid tumor	Enrichment	APC, CTNNB1	3.54
25	Chromophobe renal cell carcinoma	Enrichment	HNF1A, HNF1B	3.54
26	Anastomosing haemangioma	Enrichment	GNA11, GNA14	3.54
27	Pulmonary arterial hypertension associated with congenital heart disease	Enrichment	BMPR2, SMAD9	3.54
28	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	HNF1B, WNT4	3.48
29	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3R1	3.48
30	Hydrocephalus	Enrichment	FGFR2, FZD3, PDGFRB	3.31
31	Brachydactyly, type a2	Enrichment	BMP2, BMPR1B	3.24
32	Maturity-onset diabetes of the young, type 3	Enrichment	HNF1A, HNF4A	3.24
33	Achromatopsia 4	Enrichment	GNAI3, GNAT2	3.24
34	Craniopharyngioma	Enrichment	APC, CTNNB1	3.24
35	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3R2	3.18
36	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.18
37	Aortic aneurysm	Enrichment	SMAD3, TGFBR1	3.18
38	Glioma	Enrichment	FGFR2, NTRK3	3.18
39	Patent foramen ovale	Enrichment	GATA4, NKX2-5, TBX5	3.16
40	Exudative vitreoretinopathy 1	Enrichment	CTNNB1, FZD4	3.02
41	Atrioventricular septal defect	Enrichment	BMP5, TBX5	3.02
42	Robinow syndrome, autosomal dominant 2	Enrichment	DVL1, FZD2	3.02
43	Congenital heart defects, multiple types, 4	Enrichment	BMP7, GATA4	3.02
44	Fuchs' endothelial dystrophy	Enrichment	TCF4, ZEB1	3.02
45	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A, SMAD4	3.02
46	Maturity-onset diabetes of the young	Enrichment	HNF1A, HNF1B, HNF4A	3.02
47	Primary hypereosinophilic syndrome	Enrichment	PDGFRA, PDGFRB	2.96
48	Craniosynostosis	Enrichment	FGFR2, TCF12, TCF20	2.93
49	Hepatocellular carcinoma	Enrichment	APC, AXIN1, CTNNB1	2.90
50	Split-hand/foot malformation 1	Enrichment	FGFR2, LEF1	2.79
51	Familial atrial fibrillation	Enrichment	GATA4, NKX2-5, NPPA	2.79
52	Gallbladder cancer	Enrichment	CTNNB1, SMAD4	2.71
53	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS, TCF4	2.58
54	Exudative vitreoretinopathy	Enrichment	CTNNB1, FZD4	2.58
55	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.52
56	Adult hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1	2.48
57	Autism spectrum disorder	Enrichment	GNB1, MEF2C, TCF12, TCF20, TCF4	2.35
58	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1, TCF3	2.32
59	Left ventricular noncompaction	Enrichment	MYH7, MYH7B, NKX2-5	2.31
60	Pectus excavatum	Enrichment	TCF20, TGFBR1	2.30
61	Atrial heart septal defect	Enrichment	NKX2-5, TBX5	2.30
62	Heritable pulmonary arterial hypertension	Enrichment	BMPR2, SMAD9	2.30
63	Interatrial communication	Enrichment	NKX2-5, TBX5	2.30
64	Epicanthus	Enrichment	ACVR1, TCF4	2.22
65	Meningioma	Enrichment	AKT1, PDGFB	2.16
66	Dilated cardiomyopathy	Enrichment	MYH7, MYL2, NKX2-5, TBX5	2.09
67	Medulloblastoma	Enrichment	APC, CTNNB1	2.09
68	Breast cancer	Enrichment	AKT1, APC, GNG3, HNF1A	2.08
69	Hypertrophic cardiomyopathy	Enrichment	MYH7, MYH7B, MYL2	2.06
70	Renal cell carcinoma, nonpapillary	Enrichment	HNF1A, HNF1B	2.03
71	Congenital myopathy 4a, autosomal dominant	Enrichment	MYH7, MYL2	2.03
72	Cleft lip/palate	Enrichment	BMP4, PDGFRA	2.03
73	Chiari malformation type i	Enrichment	DKK1	2.01
74	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	2.01
75	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	2.01
76	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	2.01
77	Hepatic adenomas, familial	Enrichment	HNF1A	2.01
78	Nail disorder, nonsyndromic congenital, 1	Enrichment	FZD6	2.01
79	Stapes ankylosis with broad thumbs and toes	Enrichment	NOG	2.01
80	Tarsal-carpal coalition syndrome	Enrichment	NOG	2.01
81	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	2.01
82	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.01
83	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.01
84	Acromesomelic dysplasia 3	Enrichment	BMPR1B	2.01
85	Holt-oram syndrome	Enrichment	TBX5	2.01
86	Brachydactyly, type b2	Enrichment	NOG	2.01
87	Osseous heteroplasia, progressive	Enrichment	GNAS	2.01
88	Omodysplasia 2	Enrichment	FZD2	2.01
89	Prostate cancer, hereditary, 11	Enrichment	HNF1B	2.01
90	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	2.01
91	Symphalangism, proximal, 1a	Enrichment	NOG	2.01
92	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Enrichment	HNF4A	2.01
93	Caudal duplication anomaly	Enrichment	AXIN1	2.01
94	Multiple synostoses syndrome 1	Enrichment	NOG	2.01
95	Fetal encasement syndrome	Enrichment	CHUK	2.01
96	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	2.01
97	Brachydactyly, type a1, d	Enrichment	BMPR1B	2.01
98	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	2.01
99	Atrioventricular septal defect 4	Enrichment	GATA4	2.01
100	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.01
101	Ventricular tachycardia, familial	Enrichment	GNAI2	2.01
102	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.01
103	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	2.01
104	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	2.01
105	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.01
106	Agammaglobulinemia 8b, autosomal recessive	Enrichment	TCF3	2.01
107	Microphthalmia, syndromic 6	Enrichment	BMP4	2.01
108	Orofacial cleft 11	Enrichment	BMP4	2.01
109	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.01
110	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	2.01
111	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	2.01
112	Agammaglobulinemia 8a, autosomal dominant	Enrichment	TCF3	2.01
113	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	2.01
114	Camurati-engelmann disease 2	Enrichment	TGFB2	2.01
115	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.01
116	Atrial septal defect 2	Enrichment	GATA4	2.01
117	Night blindness, congenital stationary, autosomal dominant 3	Enrichment	GNAT1	2.01
118	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	2.01
119	Ventricular septal defect 3	Enrichment	NKX2-5	2.01
120	Dystonia 25	Enrichment	GNAL	2.01
121	Craniosynostosis 3	Enrichment	TCF12	2.01
122	Night blindness, congenital stationary, type 1g	Enrichment	GNAT1	2.01
123	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	2.01
124	Pulmonary hypertension, primary, 2	Enrichment	SMAD9	2.01
125	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	2.01
126	Loeys-dietz syndrome 6	Enrichment	SMAD2	2.01
127	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	2.01
128	Microphthalmia/coloboma 11	Enrichment	FZD5	2.01
129	Type 1 diabetes mellitus 20	Enrichment	HNF1A	2.01
130	Disorders of gnas inactivation	Enrichment	GNAS	2.01
131	Corneal dystrophy, fuchs endothelial, 3	Enrichment	TCF4	2.01
132	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	2.01
133	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	2.01
134	Meier-gorlin syndrome 5	Enrichment	CDC6	2.01
135	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.01
136	20p12.3 microdeletion syndrome	Enrichment	BMP2	2.01
137	8p23.1 microdeletion syndrome	Enrichment	GATA4	2.01
138	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	2.01
139	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.01
140	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	2.01
141	Sick sinus syndrome 4	Enrichment	GNB2	2.01
142	Developmental delay with variable intellectual impairment and behavioral abnormalities	Enrichment	TCF20	2.01
143	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	2.01
144	Trilateral retinoblastoma	Enrichment	RB1	2.01
145	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	2.01
146	Adenoid ameloblastoma	Enrichment	CTNNB1	2.01
147	Heritable thoracic aortic disease	Enrichment	SMAD4	2.01
148	Hyperinsulinism due to hnf4a deficiency	Enrichment	HNF4A	2.01
149	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.01
150	Aortic arch interruption	Enrichment	NKX2-5	2.01
151	Primary pulmonary hypertension	Enrichment	BMPR2	2.01
152	Pulmonary hypertension	Enrichment	BMPR2	2.01
153	Familial adenomatous polyposis	Enrichment	APC	2.01
154	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.01
155	Drug- or toxin-induced pulmonary arterial hypertension	Enrichment	BMPR2	2.01
156	Atrial heart septal defect 7	Enrichment	NKX2-5	2.01
157	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	2.01
158	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.01
159	Hypogonadotropic hypogonadism 26 with or without anosmia	Enrichment	TCF12	2.01
160	Monostotic fibrous dysplasia	Enrichment	GNAS	2.01
161	Gardner syndrome	Enrichment	APC	2.01
162	Medullary sponge kidney	Enrichment	HNF1B	2.01
163	Gnao1-related disorder	Enrichment	GNAO1	2.01
164	5q22 microdeletion syndrome	Enrichment	APC	2.01
165	Mef2c-related disorder	Enrichment	MEF2C	2.01
166	Attenuated familial adenomatous polyposis	Enrichment	APC	2.01
167	Renal dysplasia, bilateral	Enrichment	HNF1B	2.01
168	Phakomatosis cesiomarmorata	Enrichment	GNA11	2.01
169	Unilateral multicystic dysplastic kidney	Enrichment	HNF1B	2.01
170	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	2.01
171	Kaposiform hemangioendothelioma	Enrichment	GNA14	2.01
172	Renal dysplasia, unilateral	Enrichment	HNF1B	2.01
173	Mazabraud syndrome	Enrichment	GNAS	2.01
174	Microcystic stromal tumor	Enrichment	CTNNB1	2.01
175	Lung oat cell carcinoma	Enrichment	RB1	2.01
176	Gastric cancer	Enrichment	APC, FGFR2, SMAD4	1.97
177	Proteus syndrome	Enrichment	AKT1	1.97
178	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.97
179	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	1.97
180	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.97
181	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.97
182	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.97
183	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	1.97
184	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.97
185	Apert syndrome	Enrichment	FGFR2	1.97
186	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.97
187	Split-hand/foot malformation 6	Enrichment	WNT10B	1.97
188	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.97
189	Tooth agenesis, selective, 8	Enrichment	WNT10B	1.97
190	Gist-plus syndrome	Enrichment	PDGFRA	1.97
191	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	1.97
192	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.97
193	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.97
194	Short syndrome	Enrichment	PIK3R1	1.97
195	Diarrhea 9	Enrichment	WNT2B	1.97
196	Deafness, autosomal recessive 68	Enrichment	S1PR2	1.97
197	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.97
198	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	1.97
199	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.97
200	Heterotaxy, visceral, 2, autosomal	Enrichment	CFC1	1.97
201	Santos syndrome	Enrichment	WNT7A	1.97
202	Glaucoma 1, open angle, o	Enrichment	NTF4	1.97
203	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.97
204	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.97
205	Cowden syndrome 6	Enrichment	AKT1	1.97
206	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.97
207	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.97
208	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.97
209	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.97
210	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.97
211	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	1.97
212	Capillary hemangioma	Enrichment	AKT3	1.97
213	Congenitally uncorrected transposition of the great arteries with coarctation	Enrichment	CFC1	1.97
214	Biliary atresia with splenic malformation syndrome	Enrichment	CFC1	1.97
215	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.97
216	Congenitally uncorrected transposition of the great arteries with cardiac malformation	Enrichment	CFC1	1.97
217	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.97
218	Cardiomyopathy, dilated, 1e	Enrichment	MYH7, MYL2	1.92
219	Polycystic liver disease	Enrichment	CTNNB1, HNF4A	1.92
220	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1, HNF4A	1.92
221	Heart, malformation of	Enrichment	GATA4, TBX5	1.87
222	Ehlers-danlos syndrome	Enrichment	TGFB2, TGFBR2	1.83
223	Hepatoblastoma	Enrichment	APC, CTNNB1	1.74
224	Macs syndrome	Enrichment	SOX2, WNT7B	1.73
225	Tubulointerstitial kidney disease, autosomal dominant 1	Enrichment	HNF1B	1.71
226	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	1.71
227	Renal cysts and diabetes syndrome	Enrichment	HNF1B	1.71
228	Sveinsson chorioretinal atrophy	Enrichment	TEAD1	1.71
229	Congenital anomalies of kidney and urinary tract 2	Enrichment	HNF1B	1.71
230	Maturity-onset diabetes of the young, type 1	Enrichment	HNF4A	1.71
231	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.71
232	Myhre syndrome	Enrichment	SMAD4	1.71
233	Camurati-engelmann disease 1	Enrichment	TGFB1	1.71
234	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.71
235	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.71
236	Thumb deformity	Enrichment	TBX5	1.71
237	Ebstein anomaly	Enrichment	MYH7	1.71
238	Pulmonary venoocclusive disease 1, autosomal dominant	Enrichment	BMPR2	1.71
239	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.71
240	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS	1.71
241	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.71
242	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	1.71
243	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.71
244	Atrial fibrillation, familial, 6	Enrichment	NPPA	1.71
245	Robinow syndrome, autosomal dominant 3	Enrichment	FZD2	1.71
246	Chromosome 13q14 deletion syndrome	Enrichment	RB1	1.71
247	Angioma, tufted	Enrichment	GNA14	1.71
248	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.71
249	Heterotaxy, visceral, 4, autosomal	Enrichment	ACVR2B	1.71
250	Albinism, oculocutaneous, type ia	Enrichment	NOX4	1.71
251	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.71
252	Pulmonary venoocclusive disease 1	Enrichment	BMPR2	1.71
253	Hyperuricemic nephropathy, familial juvenile, 3	Enrichment	HNF1B	1.71
254	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.71
255	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.71
256	Cardiomyopathy, familial hypertrophic, 10	Enrichment	MYL2	1.71
257	Pseudohypoparathyroidism	Enrichment	GNAS	1.71
258	Camurati-engelmann disease	Enrichment	TGFB1	1.71
259	46,xy sex reversal 3	Enrichment	GATA4	1.71
260	Periampullary adenoma	Enrichment	APC	1.71
261	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	1.71
262	Aortic valve disease 2	Enrichment	TBX5	1.71
263	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Enrichment	MYL2	1.71
264	Hypopituitarism	Enrichment	GNAI2	1.71
265	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.71
266	Proximal symphalangism	Enrichment	NOG	1.71
267	Craniosynostosis 7	Enrichment	BMP2	1.71
268	Mitochondrial dna depletion syndrome 15	Enrichment	TFAM	1.71
269	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	1.71
270	Familial isolated congenital asplenia	Enrichment	NKX2-5	1.71
271	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.71
272	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	TCF3	1.71
273	Deletion 5q35	Enrichment	NKX2-5	1.71
274	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.71
275	Hyperinsulinism	Enrichment	HNF4A	1.71
276	Isolated atrial standstill	Enrichment	NPPA	1.71
277	Pulmonary venoocclusive disease	Enrichment	BMPR2	1.71
278	Teratoma	Enrichment	CTNNB1	1.71
279	Familial retinoblastoma	Enrichment	RB1	1.71
280	B-lymphoblastic leukemia/lymphoma with t(17;19)	Enrichment	TCF3	1.71
281	Juvenile polyposis of infancy	Enrichment	BMPR1A	1.71
282	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	BMPR2	1.71
283	Cerebral visual impairment	Enrichment	GNB1	1.71
284	Phakomatosis cesioflammea	Enrichment	GNA11	1.71
285	Attention deficit-hyperactivity disorder	Enrichment	GNB5, TCF20	1.71
286	Visceral heterotaxy	Enrichment	ACVR2B, LEFTY2	1.71
287	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.68
288	Tooth agenesis, selective, 4	Enrichment	WNT10A	1.68
289	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.68
290	Schopf-schulz-passarge syndrome	Enrichment	WNT10A	1.68
291	Ulna and fibula, absence of, with severe limb deficiency	Enrichment	WNT7A	1.68
292	Bladder exstrophy and epispadias complex	Enrichment	WNT3	1.68
293	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.68
294	Odontoonychodermal dysplasia	Enrichment	WNT10A	1.68
295	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.68
296	Tetraamelia syndrome 1	Enrichment	WNT3	1.68
297	Aural atresia, congenital	Enrichment	FGFR2	1.68
298	Pfeiffer syndrome	Enrichment	FGFR2	1.68
299	Osteogenesis imperfecta, type xv	Enrichment	WNT1	1.68
300	Jackson-weiss syndrome	Enrichment	FGFR2	1.68
301	Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly	Enrichment	WNT7A	1.68
302	Loeys-dietz syndrome 3	Enrichment	SMAD3	1.68
303	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.68
304	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.68
305	Infantile myofibromatosis	Enrichment	PDGFRB	1.68
306	Senior-loken syndrome 7	Enrichment	AKT3	1.68
307	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.68
308	Fibrosarcoma	Enrichment	NTRK3	1.68
309	Bardet-biedl syndrome 16	Enrichment	AKT3	1.68
310	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.68
311	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.68
312	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.68
313	Bladder exstrophy-epispadias-cloacal exstrophy complex	Enrichment	WNT3	1.68
314	Congenital stationary night blindness	Enrichment	GNAT1, GNB3	1.67
315	Microphthalmia	Enrichment	SOX2, WNT7B	1.65
316	Tooth agenesis	Enrichment	WNT10A, WNT10B	1.65
317	Cardiomyopathy, familial hypertrophic, 1	Enrichment	MYH7, MYH7B	1.63
318	Pancreatic cancer	Enrichment	ACVR1B, SMAD4	1.60
319	Tetralogy of fallot	Enrichment	GATA4, NKX2-5	1.57
320	Brachydactyly, type a1	Enrichment	BMPR1B	1.53
321	Mccune-albright syndrome	Enrichment	GNAS	1.53
322	Brachydactyly, type c	Enrichment	BMPR1B	1.53
323	Retinoblastoma	Enrichment	RB1	1.53
324	Acromesomelic dysplasia 2a	Enrichment	BMPR1B	1.53
325	Acromesomelic dysplasia 2c	Enrichment	BMPR1B	1.53
326	Acromesomelic dysplasia 2b	Enrichment	BMPR1B	1.53
327	Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction	Enrichment	MYH7B	1.53
328	Osteogenic sarcoma	Enrichment	RB1	1.53
329	Corneal dystrophy, posterior polymorphous, 3	Enrichment	ZEB1	1.53
330	Corneal dystrophy, fuchs endothelial, 6	Enrichment	ZEB1	1.53
331	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.53
332	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.53
333	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.53
334	Atrial standstill 2	Enrichment	NPPA	1.53
335	Chromosome 17q12 deletion syndrome	Enrichment	HNF1B	1.53
336	Anus, imperforate	Enrichment	CTNNB1	1.53
337	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.53
338	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	Enrichment	HNF1A	1.53
339	Hypotrichosis 8	Enrichment	RB1	1.53
340	Nail disease	Enrichment	FZD6	1.53
341	Frontometaphyseal dysplasia	Enrichment	MAP3K7	1.53
342	Squamous cell carcinoma	Enrichment	RB1	1.53
343	Intraocular pressure quantitative trait locus	Enrichment	ZEB1	1.53
344	Bone osteosarcoma	Enrichment	RB1	1.53
345	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.53
346	Qualitative or quantitative defects of beta-myosin heavy chain	Enrichment	MYH7	1.53
347	Idiopathic camptocormia	Enrichment	MYH7	1.53
348	Colon adenocarcinoma	Enrichment	APC	1.53
349	Apc-associated polyposis conditions	Enrichment	APC	1.53
350	Crouzon syndrome	Enrichment	FGFR2	1.50
351	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR2	1.50
352	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	1.50
353	Microphthalmia, syndromic 9	Enrichment	WNT7B	1.50
354	Tooth agenesis, selective, 2	Enrichment	WNT10A	1.50
355	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.50
356	Immunodeficiency 14	Enrichment	PIK3R1	1.50
357	Tetraamelia syndrome	Enrichment	WNT3	1.50
358	Bladder cancer	Enrichment	CTNNB1, RB1	1.48
359	Microcephaly	Enrichment	CTNNB1, GNAO1, GNB1, TCF4	1.47
360	Differentiated thyroid carcinoma	Enrichment	NTRK1, NTRK3	1.42
361	Myopathy, distal, 1	Enrichment	MYH7	1.41
362	Small cell cancer of the lung	Enrichment	RB1	1.41
363	Congenital myopathy 7b, myosin storage, autosomal recessive	Enrichment	MYH7	1.41
364	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.41
365	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.41
366	Microtia-anotia	Enrichment	BMP5	1.41
367	Auriculocondylar syndrome 1	Enrichment	GNAI3	1.41
368	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.41
369	Pitt-hopkins syndrome	Enrichment	TCF4	1.41
370	Pilomatrixoma	Enrichment	CTNNB1	1.41
371	Congenital myopathy 7a, myosin storage, autosomal dominant	Enrichment	MYH7	1.41
372	Lynch syndrome 4	Enrichment	RB1	1.41
373	Alazami syndrome	Enrichment	CTNNB1	1.41
374	Multiple synostoses syndrome	Enrichment	NOG	1.41
375	Hyaline body myopathy	Enrichment	MYH7	1.41
376	Hereditary ataxia	Enrichment	PRKCG	1.41
377	Retinopathy of prematurity	Enrichment	FZD4	1.41
378	Corneal dystrophy	Enrichment	ZEB1	1.41
379	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5	1.41
380	Eyelid coloboma	Enrichment	FZD5	1.41
381	Mitral valve insufficiency	Enrichment	TBX5	1.41
382	Non-syndromic bicoronal craniosynostosis	Enrichment	TCF12	1.41
383	Transposition of the great arteries	Enrichment	GATA4	1.41
384	Clear cell papillary renal cell carcinoma	Enrichment	HNF1A	1.41
385	Lens coloboma	Enrichment	FZD5	1.41
386	Familial sick sinus syndrome	Enrichment	GNB2	1.41
387	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	WNT10A	1.38
388	Microphthalmia, syndromic 3	Enrichment	SOX2	1.38
389	Saethre-chotzen syndrome	Enrichment	FGFR2	1.38
390	Ectodermal dysplasia	Enrichment	WNT10A	1.38
391	Isolated congenitally uncorrected transposition of the great arteries	Enrichment	CFC1	1.38
392	Inherited cancer-predisposing syndrome	Enrichment	APC, BMPR1A, RB1, SMAD4	1.38
393	Familial hypertrophic cardiomyopathy	Enrichment	MYH7, MYL2	1.38
394	Dystonia	Enrichment	GNAL, GNB1	1.33
395	Capillary malformations, congenital	Enrichment	GNA11	1.31
396	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.31
397	Congenital myopathy 3 with rigid spine	Enrichment	MYH7	1.31
398	Norrie disease	Enrichment	FZD4	1.31
399	Chondrosarcoma, extraskeletal myxoid	Enrichment	TCF12	1.31
400	Night blindness, congenital stationary, type 1c	Enrichment	GNAT1	1.31
401	Familial adenomatous polyposis 1	Enrichment	APC	1.31
402	Cholangitis, primary sclerosing	Enrichment	TCF4	1.31
403	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.31
404	Persistent hyperplastic primary vitreous	Enrichment	FZD4	1.31
405	2q23.1 microduplication syndrome	Enrichment	ACVR2A	1.31
406	Coloboma of choroid and retina	Enrichment	FZD5	1.31
407	Persistent truncus arteriosus	Enrichment	NKX2-5	1.31
408	Hemifacial hyperplasia	Enrichment	FGFR2	1.28
409	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	WNT10A	1.28
410	Hemimegalencephaly	Enrichment	AKT3	1.28
411	Melanoma, uveal	Enrichment	GNA11	1.24
412	Coloboma of optic nerve	Enrichment	FZD5	1.24
413	Corneal dystrophy, posterior polymorphous, 1	Enrichment	ZEB1	1.24
414	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.24
415	Conotruncal heart malformations	Enrichment	NKX2-5	1.24
416	Type 1 diabetes mellitus	Enrichment	HNF1A	1.24
417	Anterior segment dysgenesis 5	Enrichment	BMP4	1.24
418	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.24
419	Adrenocortical carcinoma	Enrichment	CTNNB1	1.24
420	Clear cell renal cell carcinoma	Enrichment	HNF1A	1.24
421	Double outlet right ventricle	Enrichment	NKX2-5	1.24
422	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.24
423	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.24
424	Inherited arrhythmogenic cardiomyopathy	Enrichment	MYH7	1.24
425	Multicystic kidney dysplasia	Enrichment	FZD3	1.24
426	Multicystic dysplastic kidney	Enrichment	FZD3	1.24
427	Renal dysplasia, cystic	Enrichment	WNT9B	1.21
428	Renal hypoplasia	Enrichment	WNT9B	1.21
429	Diarrhea	Enrichment	WNT2B	1.21
430	Breast adenocarcinoma	Enrichment	AKT1	1.21
431	Cerebral palsy	Enrichment	GNB1, PDGFRB	1.19
432	Esophageal cancer	Enrichment	TGFBR2	1.17
433	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5	1.17
434	Coats disease	Enrichment	FZD4	1.17
435	Brachydactyly	Enrichment	GNAS	1.17
436	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.17
437	Familial isolated restrictive cardiomyopathy	Enrichment	MYL2	1.17
438	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.14
439	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NTRK1	1.14
440	Pilomyxoid astrocytoma	Enrichment	NTRK2	1.14
441	Megacolon	Enrichment	AKT3	1.14
442	Overgrowth syndrome	Enrichment	PIK3R1	1.14
443	Hemochromatosis, type 1	Enrichment	BMP2	1.12
444	Hypothyroidism	Enrichment	GNB1	1.12
445	Myocarditis	Enrichment	MYH7	1.12
446	Choreatic disease	Enrichment	GNAO1	1.12
447	Hypoplastic left heart syndrome	Enrichment	NKX2-5	1.12
448	West syndrome	Enrichment	GNAO1, NTRK2	1.10
449	Hereditary breast carcinoma	Enrichment	AKT1, APC	1.10
450	Renal hypodysplasia/aplasia 1	Enrichment	WNT9B	1.09
451	Isolated split hand-split foot malformation	Enrichment	WNT10B	1.09
452	Tooth agenesis, selective, 1	Enrichment	BMPR2	1.07
453	Cardiomyopathy, familial hypertrophic, 4	Enrichment	MYH7	1.07
454	Inflammatory bowel disease 1	Enrichment	PRKCQ	1.07
455	Primary hyperaldosteronism	Enrichment	GNAS	1.07
456	Ventricular septal defect	Enrichment	TBX5	1.07
457	Colonic benign neoplasm	Enrichment	APC	1.07
458	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	MYH7	1.07
459	Autosomal dominant non-syndromic intellectual disability	Enrichment	GNB1, TCF4	1.06
460	Congenital nervous system abnormality	Enrichment	CTNNB1, GNAO1, GNB5	1.06
461	Nervous system disease	Enrichment	CTNNB1, GNAO1, GNB5	1.06
462	Cowden syndrome	Enrichment	AKT1	1.04
463	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	1.04
464	Renal agenesis, bilateral	Enrichment	WNT9B	1.04
465	Cat eye syndrome	Enrichment	FZD5	1.02
466	Meier-gorlin syndrome 1	Enrichment	CDC6	1.02
467	Peters-plus syndrome	Enrichment	BMP4	1.02
468	Stroke, ischemic	Enrichment	PRKCH	1.02
469	Stickler syndrome	Enrichment	BMP4	1.02
470	Achromatopsia	Enrichment	GNAT2	1.02
471	Polymicrogyria	Enrichment	AKT3	0.99
472	Leukemia, acute lymphoblastic	Enrichment	GNB1	0.99
473	Myelodysplastic syndrome	Enrichment	GNB1	0.99
474	Movement disease	Enrichment	GNAO1	0.99
475	Diabetes mellitus	Enrichment	HNF1A	0.99
476	Familial colorectal cancer type x	Enrichment	BMPR1A	0.99
477	Meningioma, familial	Enrichment	PDGFB	0.96
478	Nanophthalmos	Enrichment	SOX2	0.96
479	Digeorge syndrome	Enrichment	HNF1A	0.95
480	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	0.95
481	Restrictive cardiomyopathy	Enrichment	MYH7	0.95
482	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	0.95
483	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	0.95
484	Lip and oral cavity carcinoma	Enrichment	RB1	0.95
485	Myeloma, multiple	Enrichment	PIK3R2, TCF3	0.92
486	Septooptic dysplasia	Enrichment	SOX2	0.92
487	Aortic valve disease 1	Enrichment	NKX2-5	0.92
488	Microphthalmia/coloboma 12	Enrichment	FZD5	0.92
489	Pulmonary hypertension, primary, 1	Enrichment	BMPR2	0.92
490	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.92
491	Stereotypic movement disorder	Enrichment	TCF4	0.92
492	Complex neurodevelopmental disorder	Enrichment	GNB2, TCF20, TCF7L2	0.91
493	Osteogenesis imperfecta, type iv	Enrichment	WNT1	0.89
494	Chronic kidney disease	Enrichment	WNT9B	0.89
495	Cone-rod dystrophy 6	Enrichment	GNAT2	0.89
496	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4	0.89
497	Lung cancer susceptibility 3	Enrichment	RB1	0.89
498	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	0.89
499	46,xy partial gonadal dysgenesis	Enrichment	GATA4	0.89
500	Coloboma of macula	Enrichment	FZD5	0.86
501	Lynch syndrome	Enrichment	TGFBR2	0.86
502	Rare genetic intellectual disability	Enrichment	GNAO1	0.86
503	Septopreoptic holoprosencephaly	Enrichment	CRIPTO	0.86
504	Midline interhemispheric variant of holoprosencephaly	Enrichment	CRIPTO	0.86
505	Osteoporosis	Enrichment	WNT1	0.86
506	Wolff-parkinson-white syndrome	Enrichment	MYH7	0.83
507	Microform holoprosencephaly	Enrichment	CRIPTO	0.83
508	Lobar holoprosencephaly	Enrichment	CRIPTO	0.83
509	Osteogenesis imperfecta, type iii	Enrichment	WNT1	0.83
510	Hypertension, essential	Enrichment	GNB3	0.81
511	Cleft palate, isolated	Enrichment	GNB1	0.81
512	Alobar holoprosencephaly	Enrichment	CRIPTO	0.81
513	Autism	Enrichment	TCF20, TCF7L2	0.80
514	Neuromuscular disease	Enrichment	MYH7	0.79
515	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	0.79
516	Semilobar holoprosencephaly	Enrichment	CRIPTO	0.79
517	Dandy-walker syndrome	Enrichment	PDGFRB	0.78
518	Congenital myopathy	Enrichment	MYH7	0.76
519	Endometrial cancer	Enrichment	FGFR2	0.70
520	Cone dystrophy	Enrichment	GNAT2	0.67
521	Brittle bone disorder	Enrichment	WNT1	0.66
522	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1	0.66
523	Hydrops fetalis, nonimmune	Enrichment	FZD6	0.64
524	Strabismus	Enrichment	GNB1	0.63
525	Prostate cancer	Enrichment	HNF1B	0.60
526	Long qt syndrome 1	Enrichment	TBX5	0.59
527	Non-immune hydrops fetalis	Enrichment	FZD6	0.58
528	Cystic fibrosis	Enrichment	TGFB1	0.56
529	Connective tissue disease	Enrichment	TGFBR2	0.56
530	Cakut	Enrichment	HNF1B	0.54
531	Eye disease	Enrichment	GNAT2	0.53
532	Developmental and epileptic encephalopathy	Enrichment	GNAO1	0.52
533	Myopathy	Enrichment	MYH7	0.48
534	Distal arthrogryposis	Enrichment	FZD3	0.47
535	Thrombocytopenia	Enrichment	SMAD4	0.42
536	Body mass index quantitative trait locus 11	Enrichment	GNAS	0.41
537	Familial isolated dilated cardiomyopathy	Enrichment	MYH7	0.39
538	Hypertelorism	Enrichment	FGFR2	0.37
539	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GATA4	0.37
540	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	MEF2C	0.36
541	Undetermined early-onset epileptic encephalopathy	Enrichment	NTRK2	0.35
542	Primary ovarian insufficiency	Enrichment	NTRK1	0.33
543	Hereditary retinal dystrophy	Enrichment	FZD4, GNAT1, GNAT2	0.26
544	Fundus dystrophy	Enrichment	FZD4, GNAT1, GNAT2	0.26
545	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	S1PR2	0.21
546	Retinitis pigmentosa	Enrichment	GNAT1	0.06

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

Human Embryonic Stem Cell Pluripotency

Pathway Network for Human Embryonic Stem Cell Pluripotency

Member Pathways for Human Embryonic Stem Cell Pluripotency

Pathways in the Human Embryonic Stem Cell Pluripotency SuperPath

Associated Genes for Human Embryonic Stem Cell Pluripotency

Associated Disorders for Human Embryonic Stem Cell Pluripotency

Disorders associated with Human Embryonic Stem Cell Pluripotency SuperPath

STRING Interaction Network for Human Embryonic Stem Cell Pluripotency

Sources for Human Embryonic Stem Cell Pluripotency