Heart development

No Pathway Network information available for Heart development

Pathways in the Heart development SuperPath

#	Name	Source	Genes
1	Heart development	WikiPathways	BHLHE40 BMP10 BMP2 BMP4 BMPR1A BMPR2 CTNNB1 ERBB3 FGF10 FGF8 FOXA2 FOXC1 FOXC2 FOXH1 GATA4 GATA6 HAND1 HAND2 HEY1 HEY2 IRX4 ISL1 MAPK1 MEF2C MIR1-1 MIR143 MIR145 NFATC1 NFATC2 NFATC3 NFATC4 NKX2-5 NOTCH1 PITX2 PTPN11 SHH SMAD1 SMAD4 SMYD1 SRF TBX1 TBX2 TBX20 TBX5 VEGFA VEGFB VEGFC (see all 47) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	1
2	HAND1	Heart And Neural Crest Derivatives Expressed 1	Protein Coding	1
3	FOXH1	Forkhead Box H1	Protein Coding	1
4	BHLHE40	Basic Helix-Loop-Helix Family Member E40	Protein Coding	1
5	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	1
6	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	1
7	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
8	TBX5	T-Box Transcription Factor 5	Protein Coding	1
9	TBX2	T-Box Transcription Factor 2	Protein Coding	1
10	TBX1	T-Box Transcription Factor 1	Protein Coding	1
11	SRF	Serum Response Factor	Protein Coding	1
12	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	1
13	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
14	BMP4	Bone Morphogenetic Protein 4	Protein Coding	1
15	BMP2	Bone Morphogenetic Protein 2	Protein Coding	1
16	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
17	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
18	TBX20	T-Box Transcription Factor 20	Protein Coding	1
19	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
20	PITX2	Paired Like Homeodomain 2	Protein Coding	1
21	IRX4	Iroquois Homeobox 4	Protein Coding	1
22	NOTCH1	Notch Receptor 1	Protein Coding	1
23	NFATC4	Nuclear Factor Of Activated T Cells 4	Protein Coding	1
24	NFATC2	Nuclear Factor Of Activated T Cells 2	Protein Coding	1
25	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
26	SMAD4	SMAD Family Member 4	Protein Coding	1
27	SMAD1	SMAD Family Member 1	Protein Coding	1
28	MIR145	MicroRNA 145	RNA Gene	1
29	MIR143	MicroRNA 143	RNA Gene	1
30	MIR1-1	MicroRNA 1-1	RNA Gene	1
31	ISL1	ISL LIM Homeobox 1	Protein Coding	1
32	FOXA2	Forkhead Box A2	Protein Coding	1
33	BMP10	Bone Morphogenetic Protein 10	Protein Coding	1
34	GATA6	GATA Binding Protein 6	Protein Coding	1
35	GATA4	GATA Binding Protein 4	Protein Coding	1
36	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	1
37	HEY1	Hes Related Family BHLH Transcription Factor With YRPW Motif 1	Protein Coding	1
38	FOXC2	Forkhead Box C2	Protein Coding	1
39	FOXC1	Forkhead Box C1	Protein Coding	1
40	FGF10	Fibroblast Growth Factor 10	Protein Coding	1
41	FGF8	Fibroblast Growth Factor 8	Protein Coding	1
42	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	1
43	CTNNB1	Catenin Beta 1	Protein Coding	1
44	NKX2-5	NK2 Homeobox 5	Protein Coding	1
45	SMYD1	SET And MYND Domain Containing 1	Protein Coding	1
46	NFATC3	Nuclear Factor Of Activated T Cells 3	Protein Coding	1
47	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	1

Disorders associated with Heart development SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Patent foramen ovale	Enrichment	GATA4, GATA6, NKX2-5, PTPN11, TBX20, TBX5	10.70
2	Tetralogy of fallot	Enrichment	GATA4, GATA6, HEY2, NKX2-5, NOTCH1, TBX1	9.58
3	Ventricular septal defect 1	Enrichment	BMP2, GATA4, IRX4	6.41
4	Persistent truncus arteriosus	Enrichment	GATA6, NKX2-5, TBX1	6.41
5	Conotruncal heart malformations	Enrichment	GATA6, NKX2-5, TBX1	6.11
6	Familial atrial fibrillation	Enrichment	GATA4, GATA6, NKX2-5, PITX2	5.89
7	Hypoplastic left heart syndrome	Enrichment	NKX2-5, NOTCH1, TBX20	5.67
8	Peters-plus syndrome	Enrichment	BMP4, FOXC1, PITX2	5.34
9	Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	Enrichment	FOXC1, PITX2	4.93
10	Axenfeld-rieger syndrome	Enrichment	FOXC1, PITX2	4.93
11	Heart disease	Enrichment	GATA4, NKX2-5, TBX5	4.86
12	Septopreoptic holoprosencephaly	Enrichment	FGF8, FOXH1, SHH	4.76
13	Midline interhemispheric variant of holoprosencephaly	Enrichment	FGF8, FOXH1, SHH	4.76
14	Microform holoprosencephaly	Enrichment	FGF8, FOXH1, SHH	4.67
15	Lobar holoprosencephaly	Enrichment	FGF8, FOXH1, SHH	4.67
16	Alobar holoprosencephaly	Enrichment	FGF8, FOXH1, SHH	4.59
17	Heart, malformation of	Enrichment	GATA4, MAPK1, TBX5	4.51
18	Semilobar holoprosencephaly	Enrichment	FGF8, FOXH1, SHH	4.51
19	Juvenile polyposis syndrome	Enrichment	BMPR1A, SMAD4	4.45
20	Congenital heart defects, multiple types, 4	Enrichment	GATA4, GATA6	3.93
21	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A, SMAD4	3.93
22	Atrial septal defect 1	Enrichment	BMP2, TBX5	3.76
23	Gallbladder cancer	Enrichment	CTNNB1, SMAD4	3.61
24	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	HEY2, NOTCH1, SMAD4	3.33
25	Atrial heart septal defect	Enrichment	NKX2-5, TBX5	3.20
26	Interatrial communication	Enrichment	NKX2-5, TBX5	3.20
27	Specific learning disability	Enrichment	MAPK1, PTPN11	3.20
28	Aortic valve disease 1	Enrichment	NKX2-5, NOTCH1	3.05
29	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8, GATA4, PTPN11	3.02
30	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4, NOTCH1	2.98
31	Anterior segment dysgenesis	Enrichment	FOXC1, PITX2	2.92
32	Cardiomyopathy, dilated, 1a	Enrichment	HAND2, NFATC2	2.63
33	Dilated cardiomyopathy	Enrichment	GATA6, NKX2-5, TBX5	2.58
34	Holoprosencephaly 3	Enrichment	SHH	2.46
35	Erythroleukemia, familial	Enrichment	ERBB3	2.46
36	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	2.46
37	Metachondromatosis	Enrichment	PTPN11	2.46
38	Velocardiofacial syndrome	Enrichment	TBX1	2.46
39	Axenfeld-rieger syndrome, type 1	Enrichment	PITX2	2.46
40	Hypertelorism and tetralogy of fallot	Enrichment	FOXC1	2.46
41	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	2.46
42	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.46
43	Holt-oram syndrome	Enrichment	TBX5	2.46
44	Leopard syndrome 1	Enrichment	PTPN11	2.46
45	Microphthalmia/coloboma 5	Enrichment	SHH	2.46
46	Anterior segment dysgenesis 4	Enrichment	PITX2	2.46
47	Ring dermoid of cornea	Enrichment	PITX2	2.46
48	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	2.46
49	Atrioventricular septal defect 4	Enrichment	GATA4	2.46
50	Atrioventricular septal defect 5	Enrichment	GATA6	2.46
51	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	2.46
52	Noonan syndrome 13	Enrichment	MAPK1	2.46
53	Hereditary lymphedema id	Enrichment	VEGFC	2.46
54	Microphthalmia, syndromic 6	Enrichment	BMP4	2.46
55	Orofacial cleft 11	Enrichment	BMP4	2.46
56	Lymphatic malformation 4	Enrichment	VEGFC	2.46
57	Hypoplastic right heart syndrome	Enrichment	TBX20	2.46
58	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.46
59	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	2.46
60	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.46
61	Atrial septal defect 4	Enrichment	TBX20	2.46
62	Atrial septal defect 2	Enrichment	GATA4	2.46
63	Ventricular septal defect 3	Enrichment	NKX2-5	2.46
64	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	2.46
65	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	2.46
66	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	2.46
67	Atrial septal defect 9	Enrichment	GATA6	2.46
68	20p12.3 microdeletion syndrome	Enrichment	BMP2	2.46
69	8p23.1 microdeletion syndrome	Enrichment	GATA4	2.46
70	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	2.46
71	Adenoid ameloblastoma	Enrichment	CTNNB1	2.46
72	Heritable thoracic aortic disease	Enrichment	SMAD4	2.46
73	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	2.46
74	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.46
75	Aortic arch interruption	Enrichment	NKX2-5	2.46
76	Primary pulmonary hypertension	Enrichment	BMPR2	2.46
77	Pulmonary hypertension	Enrichment	BMPR2	2.46
78	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.46
79	Drug- or toxin-induced pulmonary arterial hypertension	Enrichment	BMPR2	2.46
80	Atrial heart septal defect 7	Enrichment	NKX2-5	2.46
81	Congenital primary lymphedema of gordon	Enrichment	VEGFC	2.46
82	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	2.46
83	Mef2c-related disorder	Enrichment	MEF2C	2.46
84	Interstitial lung disease specific to childhood	Enrichment	FGF10	2.46
85	Microcystic stromal tumor	Enrichment	CTNNB1	2.46
86	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.46
87	Malignant astrocytoma	Enrichment	PTPN11	2.46
88	Hydrops fetalis, nonimmune	Enrichment	FOXC2, PTPN11	2.44
89	Bladder cancer	Enrichment	CTNNB1, ERBB3	2.35
90	Long qt syndrome 1	Enrichment	PTPN11, TBX5	2.32
91	Non-immune hydrops fetalis	Enrichment	FOXC2, PTPN11	2.29
92	Left ventricular noncompaction	Enrichment	NKX2-5, TBX20	2.19
93	Myhre syndrome	Enrichment	SMAD4	2.16
94	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	2.16
95	Thumb deformity	Enrichment	TBX5	2.16
96	Pulmonary venoocclusive disease 1, autosomal dominant	Enrichment	BMPR2	2.16
97	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.16
98	Pulmonary hypoplasia, primary	Enrichment	FGF10	2.16
99	Axenfeld-rieger syndrome, type 3	Enrichment	FOXC1	2.16
100	Atrial fibrillation, familial, 1	Enrichment	PITX2	2.16
101	Chromosome 22q11.2 duplication syndrome	Enrichment	TBX1	2.16
102	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	2.16
103	Lymphedema-distichiasis syndrome	Enrichment	FOXC2	2.16
104	Solitary median maxillary central incisor	Enrichment	SHH	2.16
105	Fibrodysplasia ossificans progressiva	Enrichment	BMPR2	2.16
106	Adams-oliver syndrome 5	Enrichment	NOTCH1	2.16
107	Neutropenia, severe congenital, 8, autosomal dominant	Enrichment	GATA6	2.16
108	Anterior segment dysgenesis 3	Enrichment	FOXC1	2.16
109	Werner syndrome	Enrichment	PTPN11	2.16
110	Pulmonary venoocclusive disease 1	Enrichment	BMPR2	2.16
111	Vertebral anomalies and variable endocrine and t-cell dysfunction	Enrichment	TBX2	2.16
112	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.16
113	Bladder exstrophy	Enrichment	ISL1	2.16
114	46,xy sex reversal 3	Enrichment	GATA4	2.16
115	Aortic valve disease 2	Enrichment	TBX5	2.16
116	Craniosynostosis 7	Enrichment	BMP2	2.16
117	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	2.16
118	Familial isolated congenital asplenia	Enrichment	NKX2-5	2.16
119	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.16
120	Joint contractures, osteochondromas, and b-cell lymphoma	Enrichment	NFATC2	2.16
121	Deletion 5q35	Enrichment	NKX2-5	2.16
122	Pulmonary venoocclusive disease	Enrichment	BMPR2	2.16
123	Teratoma	Enrichment	CTNNB1	2.16
124	Juvenile polyposis of infancy	Enrichment	BMPR1A	2.16
125	Isolated radial hemimelia	Enrichment	SHH	2.16
126	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	BMPR2	2.16
127	Microcephaly	Enrichment	CTNNB1, MAPK1, PTPN11	2.05
128	Desmoid disease, hereditary	Enrichment	CTNNB1	1.98
129	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10	1.98
130	Syndactyly, type iv	Enrichment	SHH	1.98
131	Heart defects, congenital, and other congenital anomalies	Enrichment	GATA6	1.98
132	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	1.98
133	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.98
134	Anus, imperforate	Enrichment	CTNNB1	1.98
135	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.98
136	Desmoid tumor	Enrichment	CTNNB1	1.98
137	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	1.98
138	Tricuspid valve insufficiency	Enrichment	PTPN11	1.98
139	Pulmonary arterial hypertension associated with congenital heart disease	Enrichment	BMPR2	1.98
140	Keratoacanthoma	Enrichment	NOTCH1	1.98
141	Inherited cancer-predisposing syndrome	Enrichment	BMPR1A, PTPN11, SMAD4	1.97
142	Thrombocytopenia	Enrichment	PTPN11, SMAD4	1.92
143	Brachydactyly, type a2	Enrichment	BMP2	1.86
144	Polydactyly, preaxial ii	Enrichment	SHH	1.86
145	Schizencephaly	Enrichment	SHH	1.86
146	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.86
147	Pilomatrixoma	Enrichment	CTNNB1	1.86
148	Alazami syndrome	Enrichment	CTNNB1	1.86
149	Craniopharyngioma	Enrichment	CTNNB1	1.86
150	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.86
151	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	1.86
152	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5	1.86
153	Mitral valve insufficiency	Enrichment	TBX5	1.86
154	Transposition of the great arteries	Enrichment	GATA4	1.86
155	Middle aortic syndrome	Enrichment	GATA6	1.86
156	Kbg syndrome	Enrichment	TBX1	1.76
157	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.76
158	Atrioventricular septal defect	Enrichment	TBX5	1.76
159	Lymphoma	Enrichment	PTPN11	1.76
160	Holoprosencephaly	Enrichment	FGF8	1.76
161	Juvenile glaucoma	Enrichment	FOXC1	1.76
162	Aniridia	Enrichment	FOXC1	1.76
163	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.69
164	Holoprosencephaly 1	Enrichment	FGF8	1.69
165	Anterior segment dysgenesis 5	Enrichment	BMP4	1.69
166	Patent ductus arteriosus	Enrichment	PTPN11	1.69
167	Adrenocortical carcinoma	Enrichment	CTNNB1	1.69
168	Double outlet right ventricle	Enrichment	NKX2-5	1.69
169	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5	1.62
170	Noonan syndrome 3	Enrichment	PTPN11	1.62
171	Adams-oliver syndrome	Enrichment	NOTCH1	1.62
172	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.62
173	Hemochromatosis, type 1	Enrichment	BMP2	1.56
174	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.56
175	Combined pituitary hormone deficiency	Enrichment	FOXA2	1.56
176	Tooth agenesis, selective, 1	Enrichment	BMPR2	1.51
177	Orofacial cleft 1	Enrichment	FGF10	1.51
178	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.51
179	Ventricular septal defect	Enrichment	TBX5	1.51
180	Stickler syndrome	Enrichment	BMP4	1.47
181	Colorectal cancer	Enrichment	CTNNB1, SMAD4	1.44
182	Pectus excavatum	Enrichment	PTPN11	1.43
183	Heritable pulmonary arterial hypertension	Enrichment	BMPR2	1.43
184	Familial colorectal cancer type x	Enrichment	BMPR1A	1.43
185	Epicanthus	Enrichment	PTPN11	1.39
186	Septooptic dysplasia	Enrichment	SHH	1.39
187	Digeorge syndrome	Enrichment	TBX1	1.39
188	Juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.39
189	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	1.39
190	Congenital long qt syndrome	Enrichment	PTPN11	1.39
191	Diaphragmatic hernia, congenital	Enrichment	GATA6	1.36
192	Pulmonary hypertension, primary, 1	Enrichment	BMPR2	1.36
193	Medulloblastoma	Enrichment	CTNNB1	1.32
194	Lung cancer susceptibility 3	Enrichment	FGF10	1.32
195	Cleft lip/palate	Enrichment	BMP4	1.32
196	46,xy partial gonadal dysgenesis	Enrichment	GATA4	1.32
197	Ovarian cancer	Enrichment	BMPR1A, CTNNB1	1.32
198	Noonan syndrome and noonan-related syndrome	Enrichment	PTPN11	1.29
199	Wolff-parkinson-white syndrome	Enrichment	TBX20	1.27
200	Autism spectrum disorder	Enrichment	MEF2C, PTPN11	1.26
201	Polycystic liver disease	Enrichment	CTNNB1	1.24
202	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.24
203	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGF8	1.22
204	Macs syndrome	Enrichment	SHH	1.17
205	Hepatoblastoma	Enrichment	CTNNB1	1.15
206	Hepatocellular carcinoma	Enrichment	CTNNB1	1.13
207	Noonan syndrome 1	Enrichment	PTPN11	1.11
208	Kallmann syndrome	Enrichment	FGF8	1.11
209	Scoliosis	Enrichment	PTPN11	1.10
210	Pancreatic cancer	Enrichment	SMAD4	1.08
211	Rasopathy	Enrichment	PTPN11	1.06
212	Strabismus	Enrichment	PTPN11	1.05
213	Hirschsprung disease 1	Enrichment	ERBB3	1.02
214	Connective tissue disease	Enrichment	NOTCH1	0.98
215	Cakut	Enrichment	FOXC1	0.95
216	Gastric cancer	Enrichment	SMAD4	0.86
217	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.86
218	Familial isolated dilated cardiomyopathy	Enrichment	HAND2	0.77
219	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	MEF2C	0.74
220	Autism	Enrichment	SHH	0.65
221	Congenital nervous system abnormality	Enrichment	CTNNB1	0.51
222	Nervous system disease	Enrichment	CTNNB1	0.51

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

Heart development

Pathway Network for Heart development

Member Pathways for Heart development

Pathways in the Heart development SuperPath

Associated Genes for Heart development

Associated Disorders for Heart development

Disorders associated with Heart development SuperPath

STRING Interaction Network for Heart development

Sources for Heart development