8p23.1 copy number variation syndrome

No Pathway Network information available for 8p23.1 copy number variation syndrome

Pathways in the 8p23.1 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	8p23.1 copy number variation syndrome	WikiPathways	AXIN1 BLK BMP1 C8orf74 CGAS CLDN23 CSTA CTNNB1 CTSB CTSD DEFB134 DEFB135 DEFB136 ERI1 FAM167A FAM167A-AS1 FCGR2A FCGR2B FDFT1 GATA4 HEPACAM2 HSPD1 MAPK1 MAPK3 MCRS1 MEPE MFHAS1 MSRA MTMR6 MTMR7 MTMR8 MTMR9 NEIL2 NKX6-1 NUMA1 PDX1 PPP1R3B PRSS51 PRSS55 RAF1 RP1L1 S100A10 SGPL1 SLBP SLC2A4 SLC35G5 SOX7 TBX5 TERF1 TERT TLR2 TLR4 TNKS XKR6 (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	MTMR6	Myotubularin Related Protein 6	Protein Coding	1
2	SGPL1	Sphingosine-1-Phosphate Lyase 1	Protein Coding	1
3	TNKS	Tankyrase	Protein Coding	1
4	SLC35G5	Solute Carrier Family 35 Member G5	Protein Coding	1
5	MTMR8	Myotubularin Related Protein 8	Protein Coding	1
6	NEIL2	Nei Like DNA Glycosylase 2	Protein Coding	1
7	RP1L1	RP1 Like 1	Protein Coding	1
8	MTMR7	Myotubularin Related Protein 7	Protein Coding	1
9	AXIN1	Axin 1	Protein Coding	1
10	PPP1R3B	Protein Phosphatase 1 Regulatory Subunit 3B	Protein Coding	1
11	SLBP	Stem-Loop Histone MRNA Binding Protein	Protein Coding	1
12	TLR4	Toll Like Receptor 4	Protein Coding	1
13	TLR2	Toll Like Receptor 2	Protein Coding	1
14	TERT	Telomerase Reverse Transcriptase	Protein Coding	1
15	TBX5	T-Box Transcription Factor 5	Protein Coding	1
16	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	1
17	BMP1	Bone Morphogenetic Protein 1	Protein Coding	1
18	BLK	BLK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
19	S100A10	S100 Calcium Binding Protein A10	Protein Coding	1
20	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
21	MEPE	Matrix Extracellular Phosphoglycoprotein	Protein Coding	1
22	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
23	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
24	NUMA1	Nuclear Mitotic Apparatus Protein 1	Protein Coding	1
25	NKX6-1	NK6 Homeobox 1	Protein Coding	1
26	MSRA	Methionine Sulfoxide Reductase A	Protein Coding	1
27	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	1
28	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	1
29	GATA4	GATA Binding Protein 4	Protein Coding	1
30	FDFT1	Farnesyl-Diphosphate Farnesyltransferase 1	Protein Coding	1
31	FCGR2B	Fc Gamma Receptor IIb	Protein Coding	1
32	FCGR2A	Fc Gamma Receptor IIa	Protein Coding	1
33	CTSD	Cathepsin D	Protein Coding	1
34	CTSB	Cathepsin B	Protein Coding	1
35	CTNNB1	Catenin Beta 1	Protein Coding	1
36	CSTA	Cystatin A	Protein Coding	1
37	MFHAS1	Multifunctional ROCO Family Signaling Regulator 1	Protein Coding	1
38	ERI1	Exoribonuclease 1	Protein Coding	1
39	CLDN23	Claudin 23	Protein Coding	1
40	CGAS	Cyclic GMP-AMP Synthase	Protein Coding	1
41	MCRS1	Microspherule Protein 1	Protein Coding	1
42	FAM167A-AS1	FAM167A Antisense RNA 1	RNA Gene	1
43	FAM167A	Family With Sequence Similarity 167 Member A	Protein Coding	1
44	SOX7	SRY-Box Transcription Factor 7	Protein Coding	1
45	TERF1	Telomeric Repeat Binding Factor 1	Protein Coding	1
46	MTMR9	Myotubularin Related Protein 9	Protein Coding	1
47	DEFB134	Defensin Beta 134	Protein Coding	1
48	DEFB136	Defensin Beta 136	Protein Coding	1
49	DEFB135	Defensin Beta 135	Protein Coding	1
50	PRSS51	Serine Protease 51	Protein Coding	1
51	XKR6	XK Related 6	Protein Coding	1
52	HEPACAM2	HEPACAM Family Member 2	Protein Coding	1
53	C8orf74	Chromosome 8 Open Reading Frame 74	Protein Coding	1
54	PRSS55	Serine Protease 55	Protein Coding	1

Disorders associated with 8p23.1 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Maturity-onset diabetes of the young, type 11	Enrichment	BLK, FAM167A	4.81
2	Heart, malformation of	Enrichment	GATA4, MAPK1, TBX5	4.33
3	Hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1, TERT	4.06
4	Adrenocortical carcinoma	Enrichment	CTNNB1, TERT	3.64
5	Systemic lupus erythematosus	Enrichment	BLK, FCGR2A, FCGR2B	3.31
6	Adult hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1	3.26
7	Heart disease	Enrichment	GATA4, TBX5	2.86
8	Patent foramen ovale	Enrichment	GATA4, TBX5	2.64
9	Maturity-onset diabetes of the young	Enrichment	BLK, PDX1	2.55
10	Hepatoblastoma	Enrichment	CTNNB1, TERT	2.51
11	Malaria	Enrichment	FCGR2A, FCGR2B	2.43
12	Keratolytic winter erythema	Enrichment	CTSB	2.40
13	Leprosy 3	Enrichment	TLR2	2.40
14	Pancreatic agenesis 1	Enrichment	PDX1	2.40
15	Maturity-onset diabetes of the young, type 4	Enrichment	PDX1	2.40
16	Noonan syndrome 5	Enrichment	RAF1	2.40
17	Holt-oram syndrome	Enrichment	TBX5	2.40
18	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.40
19	Caudal duplication anomaly	Enrichment	AXIN1	2.40
20	Ceroid lipofuscinosis, neuronal, 10	Enrichment	CTSD	2.40
21	Atrioventricular septal defect 4	Enrichment	GATA4	2.40
22	Retinitis pigmentosa 88	Enrichment	RP1L1	2.40
23	Noonan syndrome 13	Enrichment	MAPK1	2.40
24	Hoxha-aliu syndrome	Enrichment	ERI1	2.40
25	Spastic paraplegia 13, autosomal dominant	Enrichment	HSPD1	2.40
26	Ulnar/fibular ray defect and brachydactyly	Enrichment	RP1L1	2.40
27	Atrial septal defect 2	Enrichment	GATA4	2.40
28	Leopard syndrome 2	Enrichment	RAF1	2.40
29	Occult macular dystrophy	Enrichment	RP1L1	2.40
30	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	2.40
31	Macular degeneration, age-related, 10	Enrichment	TLR4	2.40
32	8p23.1 microdeletion syndrome	Enrichment	GATA4	2.40
33	Reni syndrome	Enrichment	SGPL1	2.40
34	Autosomal recessive dyskeratosis congenita 4	Enrichment	TERT	2.40
35	Trigonitis	Enrichment	RAF1	2.40
36	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	2.40
37	Ulnar/fibula ray defect-brachydactyly syndrome	Enrichment	RP1L1	2.40
38	Adenoid ameloblastoma	Enrichment	CTNNB1	2.40
39	Spondyloepimetaphyseal dysplasia, guo-campeau type	Enrichment	ERI1	2.40
40	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	2.40
41	Microcystic stromal tumor	Enrichment	CTNNB1	2.40
42	Bladder cancer	Enrichment	CTNNB1, TERT	2.23
43	Pancreas, dorsal, agenesis of	Enrichment	PDX1	2.10
44	Thumb deformity	Enrichment	TBX5	2.10
45	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.10
46	Leukodystrophy, hypomyelinating, 4	Enrichment	HSPD1	2.10
47	Peeling skin syndrome 2	Enrichment	CSTA	2.10
48	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	Enrichment	TERT	2.10
49	Osteogenesis imperfecta, type xiii	Enrichment	BMP1	2.10
50	Squalene synthase deficiency	Enrichment	FDFT1	2.10
51	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.10
52	46,xy sex reversal 3	Enrichment	GATA4	2.10
53	Melanoma, cutaneous malignant 9	Enrichment	TERT	2.10
54	Aortic valve disease 2	Enrichment	TBX5	2.10
55	Idiopathic interstitial pneumonia	Enrichment	TERT	2.10
56	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.10
57	Teratoma	Enrichment	CTNNB1	2.10
58	Desmoid disease, hereditary	Enrichment	CTNNB1	1.92
59	Peeling skin syndrome 4	Enrichment	CSTA	1.92
60	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.92
61	Anus, imperforate	Enrichment	CTNNB1	1.92
62	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.92
63	Desmoid tumor	Enrichment	CTNNB1	1.92
64	Interstitial lung disease	Enrichment	TERT	1.92
65	Macrocytic anemia	Enrichment	TERT	1.92
66	High bone mass osteogenesis imperfecta	Enrichment	BMP1	1.92
67	Type 2 diabetes mellitus	Enrichment	PDX1, SLC2A4	1.92
68	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.80
69	Pilomatrixoma	Enrichment	CTNNB1	1.80
70	Alazami syndrome	Enrichment	CTNNB1	1.80
71	Lung sarcomatoid carcinoma	Enrichment	TERT	1.80
72	Craniopharyngioma	Enrichment	CTNNB1	1.80
73	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.80
74	Mitral valve insufficiency	Enrichment	TBX5	1.80
75	Transposition of the great arteries	Enrichment	GATA4	1.80
76	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.70
77	Atrioventricular septal defect	Enrichment	TBX5	1.70
78	Ventricular septal defect 1	Enrichment	GATA4	1.70
79	Congenital heart defects, multiple types, 4	Enrichment	GATA4	1.70
80	Idiopathic aplastic anemia	Enrichment	TERT	1.70
81	Atrial septal defect 1	Enrichment	TBX5	1.63
82	Dyskeratosis congenita, autosomal dominant 1	Enrichment	TERT	1.63
83	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.63
84	Pulmonary fibrosis	Enrichment	TERT	1.63
85	Hoyeraal-hreidarsson syndrome	Enrichment	TERT	1.63
86	Kidney clear cell sarcoma	Enrichment	TERT	1.63
87	Noonan syndrome 3	Enrichment	RAF1	1.56
88	Dyskeratosis congenita, autosomal dominant 2	Enrichment	TERT	1.56
89	Gallbladder cancer	Enrichment	CTNNB1	1.56
90	Pilomyxoid astrocytoma	Enrichment	RAF1	1.56
91	Melanocytic nevus syndrome, congenital	Enrichment	RAF1	1.50
92	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.50
93	Permanent neonatal diabetes mellitus	Enrichment	PDX1	1.50
94	Ventricular septal defect	Enrichment	TBX5	1.45
95	Aplastic anemia	Enrichment	TERT	1.41
96	Dilated cardiomyopathy	Enrichment	RAF1, TBX5	1.39
97	Atrial heart septal defect	Enrichment	TBX5	1.37
98	Interatrial communication	Enrichment	TBX5	1.37
99	Specific learning disability	Enrichment	MAPK1	1.37
100	Renal hypodysplasia/aplasia 3	Enrichment	ERI1	1.33
101	Meningioma	Enrichment	TERT	1.33
102	Colorectal cancer	Enrichment	CTNNB1, TLR2	1.33
103	Acute promyelocytic leukemia	Enrichment	NUMA1	1.30
104	Medulloblastoma	Enrichment	CTNNB1	1.26
105	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4	1.26
106	46,xy partial gonadal dysgenesis	Enrichment	GATA4	1.26
107	Osteogenesis imperfecta, type iii	Enrichment	BMP1	1.24
108	Neuronal ceroid lipofuscinosis	Enrichment	CTSD	1.24
109	Noonan syndrome and noonan-related syndrome	Enrichment	RAF1	1.24
110	Melanoma, cutaneous malignant 1	Enrichment	TERT	1.18
111	Interstitial lung disease 2	Enrichment	TERT	1.18
112	Polycystic liver disease	Enrichment	CTNNB1	1.18
113	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.18
114	Behcet syndrome	Enrichment	TLR4	1.14
115	Dyskeratosis congenita	Enrichment	TERT	1.14
116	Leukodystrophy	Enrichment	HSPD1	1.12
117	Microcephaly	Enrichment	CTNNB1, MAPK1	1.07
118	Noonan syndrome 1	Enrichment	RAF1	1.06
119	Brittle bone disorder	Enrichment	BMP1	1.06
120	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.04
121	Familial atrial fibrillation	Enrichment	GATA4	1.04
122	Tetralogy of fallot	Enrichment	GATA4	1.01
123	Rasopathy	Enrichment	RAF1	1.01
124	Differentiated thyroid carcinoma	Enrichment	TERT	0.96
125	Long qt syndrome 1	Enrichment	TBX5	0.95
126	Cystic fibrosis	Enrichment	FCGR2A	0.92
127	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.91
128	Left ventricular noncompaction	Enrichment	RAF1	0.88
129	Leukemia, acute myeloid	Enrichment	TERT	0.83
130	Nephrotic syndrome	Enrichment	SGPL1	0.80
131	Optic atrophy plus syndrome	Enrichment	RP1L1	0.79
132	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.72
133	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GATA4	0.70
134	Schizophrenia	Enrichment	MSRA	0.68
135	Ovarian cancer	Enrichment	CTNNB1	0.48
136	Congenital nervous system abnormality	Enrichment	CTNNB1	0.46
137	Nervous system disease	Enrichment	CTNNB1	0.46
138	Retinitis pigmentosa	Enrichment	RP1L1	0.24
139	Hereditary retinal dystrophy	Enrichment	RP1L1	0.16
140	Fundus dystrophy	Enrichment	RP1L1	0.16

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

8p23.1 copy number variation syndrome

Pathway Network for 8p23.1 copy number variation syndrome

Member Pathways for 8p23.1 copy number variation syndrome

Pathways in the 8p23.1 copy number variation syndrome SuperPath

Associated Genes for 8p23.1 copy number variation syndrome

Associated Disorders for 8p23.1 copy number variation syndrome

Disorders associated with 8p23.1 copy number variation syndrome SuperPath

STRING Interaction Network for 8p23.1 copy number variation syndrome

Sources for 8p23.1 copy number variation syndrome