11p11.2 copy number variation syndrome

No Pathway Network information available for 11p11.2 copy number variation syndrome

Pathways in the 11p11.2 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	11p11.2 copy number variation syndrome	WikiPathways	ACCS ALKBH3 ALX4 B3GNT7 B4GALT4 B4GAT1 C11orf96 CD151 CD19 CD4 CD53 CD63 CD82 CHST1 CHST6 CLOCK CRY2 EXT1 EXT2 FREY1 GLI3 HBEGF HLA-DMA HLA-DMB HLA-DRA IGSF8 ITGA3 ITGA4 ITGA6 ITGB1 ITGB2 IZUMO1 LARGE2 LEF1 LGALS3BP MAPK8IP1 MS4A1 NDST1 NRXN1 PEX16 PEX3 PHF21A PRDM11 REST SDCBP SHH SLC25A17 SLC35C1 SPPL2C SYT13 TIMP1 TP53 TP53I11 TSPAN18 VANGL1 (see all 55) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	SLC25A17	Solute Carrier Family 25 Member 17	Protein Coding	1
2	PEX3	Peroxisomal Biogenesis Factor 3	Protein Coding	1
3	B3GNT7	UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 7	Protein Coding	1
4	CHST1	Carbohydrate Sulfotransferase 1	Protein Coding	1
5	LARGE2	LARGE Xylosyl- And Glucuronyltransferase 2	Protein Coding	1
6	CD151	CD151 Molecule (Raph Blood Group)	Protein Coding	1
7	CD63	CD63 Molecule	Protein Coding	1
8	CD53	CD53 Molecule	Protein Coding	1
9	MAPK8IP1	Mitogen-Activated Protein Kinase 8 Interacting Protein 1	Protein Coding	1
10	PEX16	Peroxisomal Biogenesis Factor 16	Protein Coding	1
11	NRXN1	Neurexin 1	Protein Coding	1
12	MS4A1	Membrane Spanning 4-Domains A1	Protein Coding	1
13	CD19	CD19 Molecule	Protein Coding	1
14	CD4	CD4 Molecule	Protein Coding	1
15	TSPAN18	Tetraspanin 18	Protein Coding	1
16	B4GALT4	Beta-1,4-Galactosyltransferase 4	Protein Coding	1
17	VANGL1	VANGL Planar Cell Polarity Protein 1	Protein Coding	1
18	TP53	Tumor Protein P53	Protein Coding	1
19	TIMP1	TIMP Metallopeptidase Inhibitor 1	Protein Coding	1
20	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
21	SDCBP	Syndecan Binding Protein	Protein Coding	1
22	ALX4	ALX Homeobox 4	Protein Coding	1
23	REST	RE1 Silencing Transcription Factor	Protein Coding	1
24	SYT13	Synaptotagmin 13	Protein Coding	1
25	SLC35C1	Solute Carrier Family 35 Member C1	Protein Coding	1
26	PHF21A	PHD Finger Protein 21A	Protein Coding	1
27	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	1
28	CHST6	Carbohydrate Sulfotransferase 6	Protein Coding	1
29	LGALS3BP	Galectin 3 Binding Protein	Protein Coding	1
30	CD82	CD82 Molecule	Protein Coding	1
31	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
32	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
33	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
34	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
35	ITGA6	Integrin Subunit Alpha 6	Protein Coding	1
36	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	1
37	HLA-DRA	Major Histocompatibility Complex, Class II, DR Alpha	Protein Coding	1
38	HLA-DMA	Major Histocompatibility Complex, Class II, DM Alpha	Protein Coding	1
39	GLI3	GLI Family Zinc Finger 3	Protein Coding	1
40	EXT2	Exostosin Glycosyltransferase 2	Protein Coding	1
41	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	1
42	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	1
43	CRY2	Cryptochrome Circadian Regulator 2	Protein Coding	1
44	B4GAT1	Beta-1,4-Glucuronyltransferase 1	Protein Coding	1
45	SPPL2C	Signal Peptide Peptidase Like 2C	Protein Coding	1
46	TP53I11	Tumor Protein P53 Inducible Protein 11	Protein Coding	1
47	IGSF8	Immunoglobulin Superfamily Member 8	Protein Coding	1
48	ACCS	1-Aminocyclopropane-1-Carboxylate Synthase Homolog (Inactive)	Protein Coding	1
49	FREY1	Frey Regulator Of Sperm-Oocyte Fusion 1	Protein Coding	1
50	PRDM11	PR/SET Domain 11	Protein Coding	1
51	C11orf96	Chromosome 11 Open Reading Frame 96	Protein Coding	1
52	CLOCK	Clock Circadian Regulator	Protein Coding	1
53	HLA-DMB	Major Histocompatibility Complex, Class II, DM Beta	Protein Coding	1
54	IZUMO1	Izumo Sperm-Oocyte Fusion 1	Protein Coding	1
55	ALKBH3	AlkB Homolog 3, Alpha-Ketoglutarate Dependent Dioxygenase	Protein Coding	1

Disorders associated with 11p11.2 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Potocki-shaffer syndrome	Enrichment	ALX4, EXT2, PHF21A	6.60
2	Exostoses, multiple, type i	Enrichment	EXT1, EXT2	4.79
3	Neural tube defects	Enrichment	ITGB1, VANGL1	2.91
4	Neonatal adrenoleukodystrophy	Enrichment	PEX16, PEX3	2.91
5	Peroxisome biogenesis disorder 1b	Enrichment	PEX16, PEX3	2.79
6	Zellweger syndrome	Enrichment	PEX16, PEX3	2.79
7	Hepatoblastoma	Enrichment	EXT2, TP53	2.49
8	Holoprosencephaly 3	Enrichment	SHH	2.39
9	Pallister-hall syndrome	Enrichment	GLI3	2.39
10	Greig cephalopolysyndactyly syndrome	Enrichment	GLI3	2.39
11	Macular dystrophy, corneal	Enrichment	CHST6	2.39
12	Chondrosarcoma	Enrichment	EXT1	2.39
13	Hyperopia, high	Enrichment	NRXN1	2.39
14	Congenital disorder of glycosylation, type iic	Enrichment	SLC35C1	2.39
15	Polydactyly, preaxial iv	Enrichment	GLI3	2.39
16	Peroxisome biogenesis disorder 10a	Enrichment	PEX3	2.39
17	Raph blood group system	Enrichment	CD151	2.39
18	Microphthalmia/coloboma 5	Enrichment	SHH	2.39
19	Muscular dystrophy-dystroglycanopathy , type a, 13	Enrichment	B4GAT1	2.39
20	Peroxisome biogenesis disorder 8a	Enrichment	PEX16	2.39
21	Frontonasal dysplasia 2	Enrichment	ALX4	2.39
22	Wilms tumor 6	Enrichment	REST	2.39
23	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	2.39
24	Peroxisome biogenesis disorder 10b	Enrichment	PEX3	2.39
25	Intellectual developmental disorder, autosomal recessive 46	Enrichment	NDST1	2.39
26	Bone marrow failure syndrome 5	Enrichment	TP53	2.39
27	Okt4 epitope deficiency	Enrichment	CD4	2.39
28	Pitt-hopkins-like syndrome 2	Enrichment	NRXN1	2.39
29	Papilloma of choroid plexus	Enrichment	TP53	2.39
30	Basal cell carcinoma 7	Enrichment	TP53	2.39
31	Anaplastic thyroid carcinoma	Enrichment	TP53	2.39
32	Craniosynostosis 5	Enrichment	ALX4	2.39
33	Parietal foramina 2	Enrichment	ALX4	2.39
34	Epidermolysis bullosa simplex 7, with nephropathy and deafness	Enrichment	CD151	2.39
35	Deafness, autosomal dominant 27	Enrichment	REST	2.39
36	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	Enrichment	PHF21A	2.39
37	Graham little-piccardi-lassueur syndrome	Enrichment	HLA-DRA	2.39
38	Chromosome 2p16.3 deletion syndrome	Enrichment	NRXN1	2.39
39	Peroxisome biogenesis disorder 8b	Enrichment	PEX16	2.39
40	Immunodeficiency, common variable, 3	Enrichment	CD19	2.39
41	Immunodeficiency, common variable, 5	Enrichment	MS4A1	2.39
42	Ductal carcinoma in situ	Enrichment	TP53	2.39
43	Fibromatosis, gingival, 5	Enrichment	REST	2.39
44	Hereditary multiple osteochondromas	Enrichment	EXT1	2.39
45	Exostosis	Enrichment	EXT1	2.39
46	Immunodeficiency 79	Enrichment	CD4	2.39
47	Nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	Enrichment	NRXN1	2.39
48	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.39
49	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.39
50	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.39
51	Choroid plexus cancer	Enrichment	TP53	2.39
52	Autosomal recessive ataxia due to pex16 deficiency	Enrichment	PEX16	2.39
53	Hereditary multiple exostoses	Enrichment	EXT1	2.39
54	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.39
55	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.39
56	Ovarian cancer	Enrichment	EXT1, EXT2, TP53	2.10
57	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	2.09
58	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	2.09
59	Exostoses, multiple, type ii	Enrichment	EXT2	2.09
60	Fibromatosis, gingival, 1	Enrichment	REST	2.09
61	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.09
62	Cervical cancer	Enrichment	TP53	2.09
63	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	2.09
64	Solitary median maxillary central incisor	Enrichment	SHH	2.09
65	Lymphoma, hodgkin, classic	Enrichment	TP53	2.09
66	Tibial hemimelia	Enrichment	GLI3	2.09
67	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	2.09
68	Parietal foramina	Enrichment	ALX4	2.09
69	Split hand-foot malformation	Enrichment	LEF1	2.09
70	Synpolydactyly	Enrichment	GLI3	2.09
71	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	Enrichment	EXT2	2.09
72	Congenital fibrosarcoma	Enrichment	TP53	2.09
73	Li-fraumeni syndrome 1	Enrichment	TP53	2.09
74	Sarcoma	Enrichment	TP53	2.09
75	Cervix carcinoma	Enrichment	TP53	2.09
76	Hodgkin's lymphoma	Enrichment	TP53	2.09
77	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19	2.09
78	Postaxial polydactyly type b	Enrichment	GLI3	2.09
79	Non-syndromic sagittal craniosynostosis	Enrichment	ALX4	2.09
80	Isolated radial hemimelia	Enrichment	SHH	2.09
81	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.09
82	Acrocallosal syndrome	Enrichment	GLI3	1.92
83	Syndactyly, type iv	Enrichment	SHH	1.92
84	Aarskog-scott syndrome	Enrichment	GLI3	1.92
85	Osteogenic sarcoma	Enrichment	TP53	1.92
86	Nasopharyngeal carcinoma	Enrichment	TP53	1.92
87	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.92
88	Umbilical hernia	Enrichment	GLI3	1.92
89	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.92
90	Anaplastic astrocytoma	Enrichment	TP53	1.92
91	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	1.92
92	Squamous cell carcinoma	Enrichment	TP53	1.92
93	Adenocarcinoma	Enrichment	TP53	1.92
94	Bone osteosarcoma	Enrichment	TP53	1.92
95	Trichorhinophalangeal syndrome, type ii	Enrichment	EXT1	1.79
96	Polydactyly, preaxial ii	Enrichment	SHH	1.79
97	Small cell cancer of the lung	Enrichment	TP53	1.79
98	Schizencephaly	Enrichment	SHH	1.79
99	Sacral defect with anterior meningocele	Enrichment	VANGL1	1.79
100	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.79
101	Retinitis pigmentosa 26	Enrichment	ITGA4	1.79
102	Lung sarcomatoid carcinoma	Enrichment	TP53	1.79
103	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.79
104	Gingival fibromatosis	Enrichment	REST	1.79
105	Muscular dystrophy-dystroglycanopathy , type a, 1	Enrichment	B4GAT1	1.70
106	Rhabdomyosarcoma 2	Enrichment	TP53	1.70
107	Lymphoma	Enrichment	TP53	1.70
108	Epidermolysis bullosa	Enrichment	ITGA6	1.70
109	Acute megakaryocytic leukemia	Enrichment	TP53	1.70
110	Li-fraumeni syndrome	Enrichment	TP53	1.62
111	Peroxisome biogenesis disorder 1a	Enrichment	PEX3	1.62
112	Split-hand/foot malformation 1	Enrichment	LEF1	1.62
113	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6	1.62
114	Adrenocortical carcinoma	Enrichment	TP53	1.62
115	Breast adenocarcinoma	Enrichment	TP53	1.62
116	Esophageal cancer	Enrichment	TP53	1.55
117	Fundus albipunctatus	Enrichment	CD63	1.55
118	Squamous cell carcinoma, head and neck	Enrichment	TP53	1.55
119	Essential thrombocythemia	Enrichment	TP53	1.55
120	Gallbladder cancer	Enrichment	TP53	1.55
121	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.55
122	Glioma susceptibility 1	Enrichment	TP53	1.50
123	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.50
124	Autism	Enrichment	NRXN1, SHH	1.46
125	Adult hepatocellular carcinoma	Enrichment	TP53	1.44
126	Junctional epidermolysis bullosa	Enrichment	ITGA6	1.44
127	Primary hyperaldosteronism	Enrichment	TP53	1.44
128	Leukemia, chronic lymphocytic	Enrichment	TP53	1.40
129	Familial colorectal cancer	Enrichment	TP53	1.40
130	Myelodysplastic syndrome	Enrichment	TP53	1.36
131	Septooptic dysplasia	Enrichment	SHH	1.32
132	Lip and oral cavity carcinoma	Enrichment	TP53	1.32
133	Diaphragmatic hernia, congenital	Enrichment	GLI3	1.29
134	Lung cancer susceptibility 3	Enrichment	TP53	1.26
135	Walker-warburg syndrome	Enrichment	B4GAT1	1.26
136	Isolated macular dystrophy	Enrichment	ITGA4	1.26
137	Polydactyly, postaxial, type a1	Enrichment	GLI3	1.23
138	Wilms tumor 1	Enrichment	REST	1.23
139	Septopreoptic holoprosencephaly	Enrichment	SHH	1.23
140	Midline interhemispheric variant of holoprosencephaly	Enrichment	SHH	1.23
141	Rhabdomyosarcoma	Enrichment	TP53	1.20
142	Gliosarcoma	Enrichment	TP53	1.20
143	Microform holoprosencephaly	Enrichment	SHH	1.20
144	Lobar holoprosencephaly	Enrichment	SHH	1.20
145	Giant cell glioblastoma	Enrichment	TP53	1.18
146	Alobar holoprosencephaly	Enrichment	SHH	1.18
147	Semilobar holoprosencephaly	Enrichment	SHH	1.15
148	Diffuse large b-cell lymphoma	Enrichment	TP53	1.13
149	Macs syndrome	Enrichment	SHH	1.11
150	Craniosynostosis	Enrichment	GLI3	1.11
151	Hepatocellular carcinoma	Enrichment	TP53	1.07
152	Diamond-blackfan anemia 1	Enrichment	TP53	1.05
153	Congenital stationary night blindness	Enrichment	CD63	1.05
154	Pancreatic cancer	Enrichment	TP53	1.01
155	Inherited cancer-predisposing syndrome	Enrichment	EXT2, TP53	1.00
156	Bladder cancer	Enrichment	TP53	0.95
157	Hirschsprung disease 1	Enrichment	GLI3	0.95
158	Prostate cancer	Enrichment	TP53	0.95
159	Diamond-blackfan anemia	Enrichment	TP53	0.87
160	Leukemia, acute myeloid	Enrichment	TP53	0.82
161	Type 2 diabetes mellitus	Enrichment	MAPK8IP1	0.80
162	Gastric cancer	Enrichment	TP53	0.79
163	Nephrotic syndrome	Enrichment	ITGA3	0.79
164	Hereditary breast carcinoma	Enrichment	TP53	0.79
165	Body mass index quantitative trait locus 11	Enrichment	NRXN1	0.73
166	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	REST	0.72
167	Hereditary breast ovarian cancer syndrome	Enrichment	TP53	0.70
168	Myeloma, multiple	Enrichment	TP53	0.69
169	Autosomal recessive non-syndromic intellectual disability	Enrichment	NDST1	0.68
170	Schizophrenia	Enrichment	NRXN1	0.67
171	Cone-rod dystrophy 2	Enrichment	ITGA4	0.62
172	Breast cancer	Enrichment	TP53	0.58
173	Colorectal cancer	Enrichment	TP53	0.52
174	Hereditary retinal dystrophy	Enrichment	CD63, ITGA4	0.48
175	Fundus dystrophy	Enrichment	CD63, ITGA4	0.48
176	Autism spectrum disorder	Enrichment	NRXN1	0.44

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

11p11.2 copy number variation syndrome

Pathway Network for 11p11.2 copy number variation syndrome

Member Pathways for 11p11.2 copy number variation syndrome

Pathways in the 11p11.2 copy number variation syndrome SuperPath

Associated Genes for 11p11.2 copy number variation syndrome

Associated Disorders for 11p11.2 copy number variation syndrome

Disorders associated with 11p11.2 copy number variation syndrome SuperPath

STRING Interaction Network for 11p11.2 copy number variation syndrome

Sources for 11p11.2 copy number variation syndrome