HIF1Alpha Pathway

No Pathway Network information available for HIF1Alpha Pathway

Pathways in the HIF1Alpha Pathway SuperPath

#	Name	Source	Genes
1	HIF1Alpha Pathway	QIAGEN	APEX1 ARNT ATF4 CDKN2A COPS5 CREB1 CREB3 CREB3L4 CREBBP CUL2 EDN1 EGLN1 EGLN2 ELOB ELOC EP300 EPO HIF1A HIF1AN HNF4A HSP90AA1 HSPA1A HSPA1B JUN LDHA MAP2K3 MAP2K6 MAPK1 MDM2 NCOA1 NOS3 PER1 PSMA7 RBX1 SLC2A1 SLC2A10 SLC2A11 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC2A6 SLC2A7 TCP1 TP53 UBB UBC UBD VEGFA VEGFB VEGFC VEGFD VHL (see all 54) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	APEX1	Apurinic/Apyrimidinic Endodeoxyribonuclease 1	Protein Coding	1
2	ARNT	Aryl Hydrocarbon Receptor Nuclear Translocator	Protein Coding	1
3	ATF4	Activating Transcription Factor 4	Protein Coding	1
4	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	1
5	COPS5	COP9 Signalosome Subunit 5	Protein Coding	1
6	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
7	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	1
8	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	1
9	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
10	CUL2	Cullin 2	Protein Coding	1
11	EDN1	Endothelin 1	Protein Coding	1
12	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	1
13	EGLN2	Egl-9 Family Hypoxia Inducible Factor 2	Protein Coding	1
14	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
15	EPO	Erythropoietin	Protein Coding	1
16	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	1
17	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
18	HIF1AN	Hypoxia Inducible Factor 1 Subunit Alpha Inhibitor	Protein Coding	1
19	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	1
20	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	1
21	HSPA1A	Heat Shock Protein Family A (Hsp70) Member 1A	Protein Coding	1
22	HSPA1B	Heat Shock Protein Family A (Hsp70) Member 1B	Protein Coding	1
23	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
24	LDHA	Lactate Dehydrogenase A	Protein Coding	1
25	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	1
26	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
27	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
28	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
29	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	1
30	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
31	PER1	Period Circadian Regulator 1	Protein Coding	1
32	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	1
33	RBX1	Ring-Box 1	Protein Coding	1
34	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	1
35	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	1
36	SLC2A11	Solute Carrier Family 2 Member 11	Protein Coding	1
37	SLC2A12	Solute Carrier Family 2 Member 12	Protein Coding	1
38	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	1
39	SLC2A3	Solute Carrier Family 2 Member 3	Protein Coding	1
40	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	1
41	SLC2A5	Solute Carrier Family 2 Member 5	Protein Coding	1
42	SLC2A6	Solute Carrier Family 2 Member 6	Protein Coding	1
43	SLC2A7	Solute Carrier Family 2 Member 7	Protein Coding	1
44	ELOC	Elongin C	Protein Coding	1
45	ELOB	Elongin B	Protein Coding	1
46	TCP1	T-Complex 1	Protein Coding	1
47	TP53	Tumor Protein P53	Protein Coding	1
48	UBB	Ubiquitin B	Protein Coding	1
49	UBC	Ubiquitin C	Protein Coding	1
50	UBD	Ubiquitin Like Modifier D	Protein Coding	1
51	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
52	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	1
53	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	1
54	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	1

Disorders associated with HIF1Alpha Pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Li-fraumeni syndrome	Enrichment	CDKN2A, MDM2, TP53	5.93
2	Fanconi-bickel syndrome	Enrichment	LDHA, SLC2A2	4.81
3	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	3.64
4	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	3.64
5	Adrenocortical carcinoma	Enrichment	CDKN2A, TP53	3.64
6	Autosomal dominant secondary polycythemia	Enrichment	EGLN1, EPO	3.64
7	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A, VHL	3.49
8	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	CDKN2A, TP53	3.49
9	Type 2 diabetes mellitus	Enrichment	HNF4A, SLC2A2, SLC2A4	3.21
10	Lip and oral cavity carcinoma	Enrichment	CDKN2A, TP53	3.00
11	Rare genetic intellectual disability	Enrichment	CREBBP, EP300	2.80
12	Diffuse large b-cell lymphoma	Enrichment	CREBBP, TP53	2.59
13	Stomatin-deficient cryohydrocytosis with neurologic defects	Enrichment	SLC2A1	2.40
14	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Enrichment	HNF4A	2.40
15	Microvascular complications of diabetes 2	Enrichment	EPO	2.40
16	Accelerated tumor formation	Enrichment	MDM2	2.40
17	Auriculocondylar syndrome 3	Enrichment	EDN1	2.40
18	Noonan syndrome 13	Enrichment	MAPK1	2.40
19	Lessel-kubisch syndrome	Enrichment	MDM2	2.40
20	Bone marrow failure syndrome 5	Enrichment	TP53	2.40
21	Intellectual developmental disorder with polymicrogyria and seizures	Enrichment	TCP1	2.40
22	Hereditary lymphedema id	Enrichment	VEGFC	2.40
23	Papilloma of choroid plexus	Enrichment	TP53	2.40
24	Basal cell carcinoma 7	Enrichment	TP53	2.40
25	Hemoglobin, high altitude adaptation	Enrichment	EGLN1	2.40
26	Anaplastic thyroid carcinoma	Enrichment	TP53	2.40
27	Lymphatic malformation 4	Enrichment	VEGFC	2.40
28	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.40
29	Question mark ears, isolated	Enrichment	EDN1	2.40
30	Epilepsy, idiopathic generalized 12	Enrichment	SLC2A1	2.40
31	Ductal carcinoma in situ	Enrichment	TP53	2.40
32	Erythrocytosis, familial, 5	Enrichment	EPO	2.40
33	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.40
34	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.40
35	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.40
36	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.40
37	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.40
38	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.40
39	Hyperinsulinism due to hnf4a deficiency	Enrichment	HNF4A	2.40
40	Choroid plexus cancer	Enrichment	TP53	2.40
41	Congenital primary lymphedema of gordon	Enrichment	VEGFC	2.40
42	Epilepsy with myoclonic absences	Enrichment	SLC2A1	2.40
43	Menke-hennekam syndrome	Enrichment	CREBBP	2.40
44	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.40
45	Hereditary cryohydrocytosis with reduced stomatin	Enrichment	SLC2A1	2.40
46	Retinal hemangioblastoma	Enrichment	VHL	2.40
47	Pancreatic cancer	Enrichment	CDKN2A, TP53	2.36
48	Bladder cancer	Enrichment	CDKN2A, TP53	2.23
49	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	2.10
50	Maturity-onset diabetes of the young, type 1	Enrichment	HNF4A	2.10
51	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.10
52	Thumb deformity	Enrichment	CREBBP	2.10
53	Dystonia 9	Enrichment	SLC2A1	2.10
54	Cervical cancer	Enrichment	TP53	2.10
55	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.10
56	Glut1 deficiency syndrome 1	Enrichment	SLC2A1	2.10
57	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	2.10
58	Lymphoma, hodgkin, classic	Enrichment	TP53	2.10
59	Diamond-blackfan anemia-like	Enrichment	EPO	2.10
60	Menke-hennekam syndrome 2	Enrichment	EP300	2.10
61	Glucose transporter type 1 deficiency syndrome	Enrichment	SLC2A1	2.10
62	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.10
63	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	2.10
64	Erythrocytosis, familial, 3	Enrichment	EGLN1	2.10
65	Congenital fibrosarcoma	Enrichment	TP53	2.10
66	Li-fraumeni syndrome 1	Enrichment	TP53	2.10
67	Sarcoma	Enrichment	TP53	2.10
68	Cervix carcinoma	Enrichment	TP53	2.10
69	Hodgkin's lymphoma	Enrichment	TP53	2.10
70	Hyperinsulinism	Enrichment	HNF4A	2.10
71	Hyperinsulinism due to hnf1a deficiency	Enrichment	HNF4A	2.10
72	Acute leukemia of ambiguous lineage	Enrichment	VHL	2.10
73	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.10
74	Submucosal cleft palate	Enrichment	UBB	2.10
75	Cleft hard palate	Enrichment	UBB	2.10
76	Arterial tortuosity syndrome	Enrichment	SLC2A10	1.92
77	Myasthenic syndrome, congenital, 6, presynaptic	Enrichment	VHL	1.92
78	Uvula, bifid	Enrichment	UBB	1.92
79	Osteogenic sarcoma	Enrichment	TP53	1.92
80	Glut1 deficiency syndrome 2	Enrichment	SLC2A1	1.92
81	Cleft soft palate	Enrichment	UBB	1.92
82	Nasopharyngeal carcinoma	Enrichment	TP53	1.92
83	Primary polycythemia	Enrichment	VHL	1.92
84	Tethered spinal cord syndrome	Enrichment	CREBBP	1.92
85	Dedifferentiated liposarcoma	Enrichment	MDM2	1.92
86	Chromosome 17q23.1-q23.2 deletion syndrome	Enrichment	SLC2A1	1.92
87	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.92
88	Anaplastic astrocytoma	Enrichment	TP53	1.92
89	Squamous cell carcinoma	Enrichment	TP53	1.92
90	Adenocarcinoma	Enrichment	TP53	1.92
91	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.92
92	Bone osteosarcoma	Enrichment	TP53	1.92
93	Melanoma of soft tissue	Enrichment	CREB1	1.92
94	Well-differentiated liposarcoma	Enrichment	MDM2	1.92
95	Enchondromatosis	Enrichment	HIF1A	1.92
96	Gastric cancer	Enrichment	CDKN2A, TP53	1.90
97	Microcephaly	Enrichment	EP300, MAPK1, SLC2A1	1.89
98	Inherited cancer-predisposing syndrome	Enrichment	CDKN2A, TP53, VHL	1.81
99	Huntington disease	Enrichment	SLC2A3	1.80
100	Small cell cancer of the lung	Enrichment	TP53	1.80
101	Erythrocytosis, familial, 2	Enrichment	VHL	1.80
102	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.80
103	Auriculocondylar syndrome 1	Enrichment	EDN1	1.80
104	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.80
105	Maturity-onset diabetes of the young, type 3	Enrichment	HNF4A	1.80
106	Au-kline syndrome	Enrichment	VHL	1.80
107	Lung sarcomatoid carcinoma	Enrichment	TP53	1.80
108	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.80
109	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	1.70
110	Alzheimer disease 2	Enrichment	NOS3	1.70
111	Fanconi anemia, complementation group d2	Enrichment	VHL	1.70
112	Von hippel-lindau syndrome	Enrichment	VHL	1.70
113	Rhabdomyosarcoma 2	Enrichment	TP53	1.70
114	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.70
115	Pre-eclampsia	Enrichment	NOS3	1.70
116	Lymphoma	Enrichment	TP53	1.70
117	Acute megakaryocytic leukemia	Enrichment	TP53	1.70
118	Myeloma, multiple	Enrichment	CREBBP, TP53	1.68
119	Breast adenocarcinoma	Enrichment	TP53	1.63
120	Lung squamous cell carcinoma	Enrichment	CDKN2A	1.63
121	Hypertrichosis	Enrichment	CREBBP	1.63
122	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	VHL	1.63
123	Esophageal cancer	Enrichment	TP53	1.56
124	Squamous cell carcinoma, head and neck	Enrichment	TP53	1.56
125	Renal cell carcinoma, papillary, 1	Enrichment	VHL	1.56
126	Essential thrombocythemia	Enrichment	TP53	1.56
127	Gallbladder cancer	Enrichment	TP53	1.56
128	Paroxysmal dystonia	Enrichment	SLC2A1	1.56
129	Glioma susceptibility 1	Enrichment	TP53	1.50
130	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.50
131	Alternating hemiplegia of childhood	Enrichment	SLC2A1	1.50
132	Charge syndrome	Enrichment	EP300	1.45
133	Myoclonic-atonic epilepsy	Enrichment	SLC2A1	1.45
134	Adult hepatocellular carcinoma	Enrichment	TP53	1.45
135	Primary hyperaldosteronism	Enrichment	TP53	1.45
136	Breast cancer	Enrichment	JUN, TP53	1.45
137	Leukemia, chronic lymphocytic	Enrichment	TP53	1.41
138	Stroke, ischemic	Enrichment	NOS3	1.41
139	Melanoma	Enrichment	CDKN2A	1.41
140	Familial colorectal cancer	Enrichment	TP53	1.41
141	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.37
142	Myelodysplastic syndrome	Enrichment	TP53	1.37
143	Specific learning disability	Enrichment	MAPK1	1.37
144	Congenital long qt syndrome	Enrichment	SLC2A2	1.33
145	Colorectal cancer	Enrichment	EP300, TP53	1.33
146	Pheochromocytoma	Enrichment	VHL	1.26
147	Lung cancer susceptibility 3	Enrichment	TP53	1.26
148	Heart disease	Enrichment	CREBBP	1.26
149	Renal cell carcinoma, nonpapillary	Enrichment	VHL	1.24
150	Polydactyly, postaxial, type a1	Enrichment	EP300	1.24
151	Corpus callosum, agenesis of	Enrichment	CREBBP	1.24
152	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.24
153	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.24
154	Ovarian cancer	Enrichment	CDKN2A, TP53	1.21
155	Rhabdomyosarcoma	Enrichment	TP53	1.21
156	Gliosarcoma	Enrichment	TP53	1.21
157	Alzheimer disease, familial, 1	Enrichment	NOS3	1.18
158	Hypertension, essential	Enrichment	NOS3	1.18
159	Melanoma, cutaneous malignant 1	Enrichment	CDKN2A	1.18
160	Polycystic liver disease	Enrichment	HNF4A	1.18
161	Giant cell glioblastoma	Enrichment	TP53	1.18
162	Autosomal dominant polycystic liver disease	Enrichment	HNF4A	1.18
163	Heart, malformation of	Enrichment	MAPK1	1.16
164	Maturity-onset diabetes of the young	Enrichment	HNF4A	1.12
165	Hepatoblastoma	Enrichment	TP53	1.09
166	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	VHL	1.09
167	Hepatocellular carcinoma	Enrichment	TP53	1.08
168	Diamond-blackfan anemia 1	Enrichment	TP53	1.06
169	Precursor t-cell acute lymphoblastic leukemia	Enrichment	CDKN2A	1.06
170	Scoliosis	Enrichment	CREBBP	1.04
171	Developmental and epileptic encephalopathy 1	Enrichment	SLC2A1	1.02
172	Strabismus	Enrichment	SLC2A1	0.99
173	Prostate cancer	Enrichment	TP53	0.96
174	Long qt syndrome 1	Enrichment	SLC2A2	0.95
175	Fanconi anemia, complementation group a	Enrichment	VHL	0.88
176	Diamond-blackfan anemia	Enrichment	TP53	0.87
177	Leukemia, acute myeloid	Enrichment	TP53	0.83
178	Epilepsy	Enrichment	SLC2A1	0.83
179	Benign epilepsy with centrotemporal spikes	Enrichment	SLC2A1	0.82
180	Centralopathic epilepsy	Enrichment	SLC2A1	0.80
181	West syndrome	Enrichment	SLC2A1	0.79
182	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SLC2A10	0.79
183	Hereditary breast carcinoma	Enrichment	TP53	0.79
184	Hereditary breast ovarian cancer syndrome	Enrichment	TP53	0.70
185	Primary ovarian insufficiency	Enrichment	NOS3	0.68
186	Autism	Enrichment	CREBBP	0.60
187	Congenital nervous system abnormality	Enrichment	CREBBP	0.46
188	Nervous system disease	Enrichment	CREBBP	0.46

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

HIF1Alpha Pathway

Pathway Network for HIF1Alpha Pathway

Member Pathways for HIF1Alpha Pathway

Pathways in the HIF1Alpha Pathway SuperPath

Associated Genes for HIF1Alpha Pathway

Associated Disorders for HIF1Alpha Pathway

Disorders associated with HIF1Alpha Pathway SuperPath

STRING Interaction Network for HIF1Alpha Pathway

Sources for HIF1Alpha Pathway