10q11.21q11.23 copy number variation syndrome

No Pathway Network information available for 10q11.21q11.23 copy number variation syndrome

Pathways in the 10q11.21q11.23 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	10q11.21q11.23 copy number variation syndrome	WikiPathways	ARHGAP22 ATF2 BAZ1B BCL2 BMAL1 BMP2 BMPR1A BMPR1B C10orf53 C10orf71 CDH1 CHAT CLOCK CUL5 DDX21 DEK DLD DLST DRGX EIF4ENIF1 ELK1 ELOA ERCC5 ERCC6 ERCC8 FAM170B FRMPD2 GDF5 HSF1 HSF4 ITCH JUND KDM4D LRRC18 MAPK8 MEN1 MYBBP1A MYO1C NEO1 NLRP3 NOG OGDHL PARG PCNA RGMB RIF1 SF3B1 SIRT1 SIRT6 SLC18A3 SMAD1 SMAD5 SMAD9 SMARCA5 SMARCB1 SMARCC2 TMEM273 UVSSA VSTM4 WDFY4 (see all 60) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	DLST	Dihydrolipoamide S-Succinyltransferase	Protein Coding	1
2	CDH1	Cadherin 1	Protein Coding	1
3	NOG	Noggin	Protein Coding	1
4	BAZ1B	Bromodomain Adjacent To Zinc Finger Domain 1B	Protein Coding	1
5	PARG	Poly(ADP-Ribose) Glycohydrolase	Protein Coding	1
6	ITCH	Itchy E3 Ubiquitin Protein Ligase	Protein Coding	1
7	GDF5	Growth Differentiation Factor 5	Protein Coding	1
8	CUL5	Cullin 5	Protein Coding	1
9	DEK	DEK Proto-Oncogene	Protein Coding	1
10	SMARCB1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1	Protein Coding	1
11	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	1
12	SLC18A3	Solute Carrier Family 18 Member A3	Protein Coding	1
13	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
14	BMP2	Bone Morphogenetic Protein 2	Protein Coding	1
15	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
16	ARHGAP22	Rho GTPase Activating Protein 22	Protein Coding	1
17	WDFY4	WDFY Family Member 4	Protein Coding	1
18	UVSSA	UV Stimulated Scaffold Protein A	Protein Coding	1
19	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
20	OGDHL	Oxoglutarate Dehydrogenase L	Protein Coding	1
21	SIRT6	Sirtuin 6	Protein Coding	1
22	PCNA	Proliferating Cell Nuclear Antigen	Protein Coding	1
23	MYO1C	Myosin IC	Protein Coding	1
24	MEN1	Menin 1	Protein Coding	1
25	SMAD9	SMAD Family Member 9	Protein Coding	1
26	SMAD5	SMAD Family Member 5	Protein Coding	1
27	SMAD1	SMAD Family Member 1	Protein Coding	1
28	BMAL1	Basic Helix-Loop-Helix ARNT Like 1	Protein Coding	1
29	JUND	JunD Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
30	HSF4	Heat Shock Transcription Factor 4	Protein Coding	1
31	HSF1	Heat Shock Transcription Factor 1	Protein Coding	1
32	RGMB	Repulsive Guidance Molecule BMP Co-Receptor B	Protein Coding	1
33	SF3B1	Splicing Factor 3b Subunit 1	Protein Coding	1
34	SIRT1	Sirtuin 1	Protein Coding	1
35	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	1
36	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	1
37	DLD	Dihydrolipoamide Dehydrogenase	Protein Coding	1
38	ATF2	Activating Transcription Factor 2	Protein Coding	1
39	ERCC8	ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit	Protein Coding	1
40	NLRP3	NLR Family Pyrin Domain Containing 3	Protein Coding	1
41	CHAT	Choline O-Acetyltransferase	Protein Coding	1
42	MYBBP1A	MYB Binding Protein 1a	Protein Coding	1
43	VSTM4	V-Set And Transmembrane Domain Containing 4	Protein Coding	1
44	TMEM273	Transmembrane Protein 273	Protein Coding	1
45	FAM170B	Family With Sequence Similarity 170 Member B	Protein Coding	1
46	SMARCA5	SNF2 Related Chromatin Remodeling ATPase 5	Protein Coding	1
47	FRMPD2	FERM And PDZ Domain Containing 2	Protein Coding	1
48	C10orf71	Chromosome 10 Open Reading Frame 71	Protein Coding	1
49	ELOA	Elongin A	Protein Coding	1
50	SMARCC2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit C2	Protein Coding	1
51	DRGX	Dorsal Root Ganglia Homeobox	Protein Coding	1
52	EIF4ENIF1	Eukaryotic Translation Initiation Factor 4E Nuclear Import Factor 1	Protein Coding	1
53	KDM4D	Lysine Demethylase 4D	Protein Coding	1
54	RIF1	Replication Timing Regulatory Factor 1	Protein Coding	1
55	NEO1	Neogenin 1	Protein Coding	1
56	LRRC18	Leucine Rich Repeat Containing 18	Protein Coding	1
57	CLOCK	Clock Circadian Regulator	Protein Coding	1
58	DDX21	DExD-Box Helicase 21	Protein Coding	1
59	C10orf53	Chromosome 10 Open Reading Frame 53	Protein Coding	1
60	ELK1	ETS Transcription Factor ELK1	Protein Coding	1

Disorders associated with 10q11.21q11.23 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Uv-sensitive syndrome	Enrichment	ERCC6, ERCC8, UVSSA	7.08
2	Brachydactyly, type a2	Enrichment	BMP2, BMPR1B, GDF5	6.48
3	Proximal symphalangism	Enrichment	GDF5, NOG	4.72
4	Myasthenic syndrome, congenital, 21, presynaptic	Enrichment	CHAT, SLC18A3	4.72
5	Cockayne syndrome type 3	Enrichment	ERCC6, ERCC8	4.72
6	Brachydactyly, type a1	Enrichment	BMPR1B, GDF5	4.24
7	Brachydactyly, type c	Enrichment	BMPR1B, GDF5	4.24
8	Acromesomelic dysplasia 2a	Enrichment	BMPR1B, GDF5	4.24
9	Acromesomelic dysplasia 2c	Enrichment	BMPR1B, GDF5	4.24
10	Acromesomelic dysplasia 2b	Enrichment	BMPR1B, GDF5	4.24
11	Multiple synostoses syndrome	Enrichment	GDF5, NOG	3.94
12	Cockayne syndrome a	Enrichment	ERCC6, ERCC8	3.72
13	Cockayne syndrome b	Enrichment	ERCC6, ERCC8	3.54
14	Cerebrooculofacioskeletal syndrome 1	Enrichment	ERCC5, ERCC6	3.54
15	Cockayne syndrome	Enrichment	ERCC6, ERCC8	3.40
16	Ovarian cancer	Enrichment	BMPR1A, CDH1, ERCC5, SMARCB1	2.99
17	Presynaptic congenital myasthenic syndromes	Enrichment	CHAT, SLC18A3	2.99
18	Lactic acidosis	Enrichment	CHAT, DLD	2.91
19	Coffin-siris syndrome 1	Enrichment	SMARCB1, SMARCC2	2.71
20	Inherited cancer-predisposing syndrome	Enrichment	BMPR1A, CDH1, MEN1, SMARCB1	2.56
21	Cataract 5, multiple types	Enrichment	HSF4	2.35
22	Apnea, central sleep	Enrichment	CHAT	2.35
23	Stapes ankylosis with broad thumbs and toes	Enrichment	NOG	2.35
24	Tarsal-carpal coalition syndrome	Enrichment	NOG	2.35
25	Cinca syndrome	Enrichment	NLRP3	2.35
26	Angel-shaped phalangoepiphyseal dysplasia	Enrichment	GDF5	2.35
27	Keratoendotheliitis fugax hereditaria	Enrichment	NLRP3	2.35
28	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.35
29	Acromesomelic dysplasia 3	Enrichment	BMPR1B	2.35
30	Brachydactyly, type b2	Enrichment	NOG	2.35
31	Familial cold autoinflammatory syndrome 1	Enrichment	NLRP3	2.35
32	Symphalangism, proximal, 1a	Enrichment	NOG	2.35
33	Multiple synostoses syndrome 1	Enrichment	NOG	2.35
34	Brachydactyly, type a1, d	Enrichment	BMPR1B	2.35
35	Muckle-wells syndrome	Enrichment	NLRP3	2.35
36	Deafness, autosomal dominant 34, with or without inflammation	Enrichment	NLRP3	2.35
37	Yoon-bellen neurodevelopmental syndrome	Enrichment	OGDHL	2.35
38	Adrenal cortical adenoma	Enrichment	MEN1	2.35
39	Pheochromocytoma/paraganglioma syndrome 7	Enrichment	DLST	2.35
40	Autoimmune disease, multisystem, with facial dysmorphism	Enrichment	ITCH	2.35
41	Rhabdoid tumor predisposition syndrome 1	Enrichment	SMARCB1	2.35
42	Uv-sensitive syndrome 3	Enrichment	UVSSA	2.35
43	Pulmonary hypertension, primary, 2	Enrichment	SMAD9	2.35
44	Neurilemmoma	Enrichment	SMARCB1	2.35
45	Ataxia-telangiectasia-like disorder 2	Enrichment	PCNA	2.35
46	Coffin-siris syndrome 3	Enrichment	SMARCB1	2.35
47	20p12.3 microdeletion syndrome	Enrichment	BMP2	2.35
48	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	2.35
49	Aspiration pneumonia	Enrichment	CHAT	2.35
50	Syndromic multisystem autoimmune disease due to itch deficiency	Enrichment	ITCH	2.35
51	Breast lobular carcinoma	Enrichment	CDH1	2.35
52	Adrenal adenoma	Enrichment	MEN1	2.35
53	Cardiomyopathy, dilated, 1qq	Enrichment	C10orf71	2.35
54	Cryopyrin associated periodic syndrome	Enrichment	NLRP3	2.35
55	Familial amyloid nephropathy with urticaria and deafness	Enrichment	NLRP3	2.35
56	Lethal brain and heart developmental defects	Enrichment	SIRT6	2.35
57	Blepharocheilodontic syndrome 1	Enrichment	CDH1	2.05
58	Dihydrolipoamide dehydrogenase deficiency	Enrichment	DLD	2.05
59	Hyperparathyroidism 1	Enrichment	MEN1	2.05
60	Schwannomatosis 1	Enrichment	SMARCB1	2.05
61	Multiple synostoses syndrome 2	Enrichment	GDF5	2.05
62	Methemoglobinemia due to deficiency of methemoglobin reductase	Enrichment	DLD	2.05
63	Brachydactyly, type a1, c	Enrichment	GDF5	2.05
64	Symphalangism, proximal, 1b	Enrichment	GDF5	2.05
65	Coffin-siris syndrome 8	Enrichment	SMARCC2	2.05
66	Mitochondrial complex i deficiency, nuclear type 10	Enrichment	ERCC8	2.05
67	Intravascular large b-cell lymphoma	Enrichment	BCL2	2.05
68	Rhabdoid tumor predisposition syndrome	Enrichment	SMARCB1	2.05
69	Medullary thyroid carcinoma	Enrichment	MEN1	2.05
70	Pericardial effusion	Enrichment	NLRP3	2.05
71	Insulinoma	Enrichment	MEN1	2.05
72	Craniosynostosis 7	Enrichment	BMP2	2.05
73	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	2.05
74	Acute myeloid leukemia with t(6;9) (p23;q34.1)	Enrichment	DEK	2.05
75	Juvenile polyposis of infancy	Enrichment	BMPR1A	2.05
76	Null pituitary adenoma	Enrichment	MEN1	2.05
77	Silent pituitary adenoma	Enrichment	MEN1	2.05
78	Gigantism	Enrichment	MEN1	2.05
79	Juvenile polyposis syndrome	Enrichment	BMPR1A	1.88
80	Myasthenic syndrome, congenital, 6, presynaptic	Enrichment	CHAT	1.88
81	De sanctis-cacchione syndrome	Enrichment	ERCC6	1.88
82	Xeroderma pigmentosum, complementation group g	Enrichment	ERCC5	1.88
83	Uv-sensitive syndrome 1	Enrichment	ERCC6	1.88
84	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	1.88
85	Pituitary adenoma 1, multiple types	Enrichment	MEN1	1.88
86	Uv-sensitive syndrome 2	Enrichment	ERCC8	1.88
87	Cerebrooculofacioskeletal syndrome 3	Enrichment	ERCC5	1.88
88	Arthrogryposis multiplex congenita 6	Enrichment	RIF1	1.88
89	Bronchopulmonary dysplasia	Enrichment	CHAT	1.88
90	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	1.88
91	Premature ovarian failure 11	Enrichment	ERCC6	1.88
92	Atypical teratoid rhabdoid tumor	Enrichment	SMARCB1	1.88
93	Cellular ependymoma	Enrichment	MEN1	1.88
94	Tanycytic ependymoma	Enrichment	MEN1	1.88
95	Papillary ependymoma	Enrichment	MEN1	1.88
96	Parathyroid adenoma	Enrichment	MEN1	1.88
97	Growth hormone secreting pituitary adenoma	Enrichment	MEN1	1.88
98	Schwannomatosis	Enrichment	SMARCB1	1.88
99	Aip familial isolated pituitary adenomas	Enrichment	MEN1	1.88
100	Familial isolated hyperparathyroidism	Enrichment	MEN1	1.88
101	Xeroderma pigmentosum group g	Enrichment	ERCC5	1.88
102	Clear cell ependymoma	Enrichment	MEN1	1.88
103	Myelodysplastic syndrome with ring sideroblasts	Enrichment	SF3B1	1.88
104	Pulmonary arterial hypertension associated with congenital heart disease	Enrichment	SMAD9	1.88
105	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CDH1	1.76
106	Nemaline myopathy 2	Enrichment	RIF1	1.76
107	Deafness, autosomal recessive 1a	Enrichment	ERCC8	1.76
108	Macular degeneration, age-related, 5	Enrichment	ERCC6	1.76
109	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	SF3B1	1.76
110	Prolactinoma	Enrichment	MEN1	1.76
111	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	ERCC8	1.76
112	Primary hyperparathyroidism	Enrichment	MEN1	1.76
113	Full schwannomatosis	Enrichment	SMARCB1	1.76
114	Benign ependymoma	Enrichment	MEN1	1.76
115	Ventricular septal defect 1	Enrichment	BMP2	1.66
116	Follicular lymphoma	Enrichment	BCL2	1.66
117	Polyneuropathy	Enrichment	ERCC5	1.66
118	Xeroderma pigmentosum-cockayne syndrome complex	Enrichment	ERCC5	1.66
119	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A	1.66
120	Atrial septal defect 1	Enrichment	BMP2	1.58
121	Melanoma, uveal	Enrichment	SF3B1	1.58
122	Cleft lip with or without cleft palate	Enrichment	CDH1	1.58
123	Multiple endocrine neoplasia, type i	Enrichment	MEN1	1.51
124	Gastrointestinal stromal tumor	Enrichment	MEN1	1.51
125	Leukemia, chronic myeloid	Enrichment	SF3B1	1.51
126	Gastroesophageal reflux	Enrichment	CHAT	1.46
127	Hemochromatosis, type 1	Enrichment	BMP2	1.46
128	Ewing sarcoma	Enrichment	SMARCA5	1.46
129	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	CHAT	1.36
130	Nemaline myopathy	Enrichment	RIF1	1.36
131	Pectus excavatum	Enrichment	ERCC5	1.32
132	Xeroderma pigmentosum, variant type	Enrichment	ERCC5	1.32
133	Meningioma, familial	Enrichment	SMARCB1	1.32
134	Myelodysplastic syndrome	Enrichment	SF3B1	1.32
135	Diabetes mellitus	Enrichment	MEN1	1.32
136	Heritable pulmonary arterial hypertension	Enrichment	SMAD9	1.32
137	Familial colorectal cancer type x	Enrichment	BMPR1A	1.32
138	Early-onset lamellar cataract	Enrichment	HSF4	1.32
139	Meningioma	Enrichment	SMARCB1	1.29
140	Nk-cell enteropathy	Enrichment	SMARCB1	1.25
141	Congenital myasthenic syndrome	Enrichment	CHAT	1.22
142	Cleft lip/palate	Enrichment	CDH1	1.22
143	Hypertension	Enrichment	MEN1	1.16
144	Cataract 44	Enrichment	HSF4	1.14
145	Arteriovenous malformations of the brain	Enrichment	NLRP3	1.09
146	Williams-beuren syndrome	Enrichment	BAZ1B	1.07
147	Endometrial cancer	Enrichment	CDH1	1.05
148	Hepatoblastoma	Enrichment	ERCC5	1.05
149	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	DLST	1.05
150	Autoinflammatory disease	Enrichment	NLRP3	1.00
151	Muscular dystrophy	Enrichment	RIF1	1.00
152	Prostate cancer	Enrichment	CDH1	0.92
153	Lung cancer	Enrichment	ERCC6	0.88
154	Fetal akinesia deformation sequence 1	Enrichment	SLC18A3	0.82
155	Mitochondrial complex i deficiency, nuclear type 1	Enrichment	ERCC8	0.81
156	Leukemia, acute myeloid	Enrichment	SF3B1	0.79
157	Gastric cancer	Enrichment	CDH1	0.76
158	Hereditary breast carcinoma	Enrichment	CDH1	0.75
159	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MYO1C	0.69
160	Familial isolated dilated cardiomyopathy	Enrichment	C10orf71	0.68
161	Hereditary breast ovarian cancer syndrome	Enrichment	MEN1	0.66
162	Primary ovarian insufficiency	Enrichment	SIRT6	0.64
163	Breast cancer	Enrichment	CDH1	0.55
164	Colorectal cancer	Enrichment	CDH1	0.49
165	Congenital nervous system abnormality	Enrichment	ERCC8	0.42
166	Nervous system disease	Enrichment	ERCC8	0.42
167	Autism spectrum disorder	Enrichment	SMARCB1	0.42
168	Microcephaly	Enrichment	SMARCA5	0.37

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

10q11.21q11.23 copy number variation syndrome

Pathway Network for 10q11.21q11.23 copy number variation syndrome

Member Pathways for 10q11.21q11.23 copy number variation syndrome

Pathways in the 10q11.21q11.23 copy number variation syndrome SuperPath

Associated Genes for 10q11.21q11.23 copy number variation syndrome

Associated Disorders for 10q11.21q11.23 copy number variation syndrome

Disorders associated with 10q11.21q11.23 copy number variation syndrome SuperPath

STRING Interaction Network for 10q11.21q11.23 copy number variation syndrome

Sources for 10q11.21q11.23 copy number variation syndrome