5q35 copy number variation

No Pathway Network information available for 5q35 copy number variation

Pathways in the 5q35 copy number variation SuperPath

#	Name	Source	Genes
1	5q35 copy number variation	WikiPathways	ABHD5 ABL1 ABRAXAS1 ADAM10 ANKS4B ARFGAP2 ARL10 B4GALT7 BABAM1 BABAM2 BARD1 BRCA1 BRCC3 CAPN3 CDHR2 CDHR5 CLTB COX4I1 COX5A COX5B COX6A1 COX6B1 COX6C COX7A1 COX7B COX7C COX8A CXCR4 CYP7A1 DBN1 DDX41 DOK3 DRD2 EED EIF4E1B F12 FAF2 FAM193B FBXW7 FGF1 FGF19 FGFR4 FRS2 GAB1 GNAI1 GNAI2 GNAI3 GPRIN1 GRB2 GRIN1 GRIN2B GRK6 H2AX H3-3A HIC2 HIGD2A HIP1 HIP1R HK3 IGF1R INPP5D JUN KDM6B KIAA1191 LMAN2 MAGED1 MAPK10 MAPK8 MAPK9 MAX MIR1271 MIR4281 MXD3 MYC MYO7B NELFB NOP16 NSD1 NTN1 PDLIM7 PFN3 PIK3R1 PLCG1 PNPLA2 PRELID1 PRR7 PTH PTPN2 PTPRN2 RAB24 RGS14 RN7SL684P RNF44 SIMC1 SLC34A1 SNCA SNCB SOS1 SRC TMED10 TMED2 TMED9 TPM2 TRIAP1 TSPAN17 UIMC1 UNC5A USH1C ZNF346 (see all 109) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	TMED9	Transmembrane P24 Trafficking Protein 9	Protein Coding	1
2	LMAN2	Lectin, Mannose Binding 2	Protein Coding	1
3	FGF19	Fibroblast Growth Factor 19	Protein Coding	1
4	NTN1	Netrin 1	Protein Coding	1
5	HIP1R	Huntingtin Interacting Protein 1 Related	Protein Coding	1
6	EED	Embryonic Ectoderm Development	Protein Coding	1
7	ARFGAP2	ARF GTPase Activating Protein 2	Protein Coding	1
8	CAPN3	Calpain 3	Protein Coding	1
9	DOK3	Docking Protein 3	Protein Coding	1
10	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	1
11	TPM2	Tropomyosin 2	Protein Coding	1
12	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
13	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
14	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
15	SNCA	Synuclein Alpha	Protein Coding	1
16	SNCB	Synuclein Beta	Protein Coding	1
17	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	1
18	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	1
19	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	1
20	PTPN2	Protein Tyrosine Phosphatase Non-Receptor Type 2	Protein Coding	1
21	PTH	Parathyroid Hormone	Protein Coding	1
22	PNPLA2	Patatin Like Domain 2, Triacylglycerol Lipase	Protein Coding	1
23	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
24	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
25	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
26	FBXW7	F-Box And WD Repeat Domain Containing 7	Protein Coding	1
27	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
28	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
29	NOP16	NOP16 Nucleolar Protein	Protein Coding	1
30	DDX41	DEAD-Box Helicase 41	Protein Coding	1
31	ABHD5	Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase	Protein Coding	1
32	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
33	MAX	MYC Associated Transcriptional Regulator X	Protein Coding	1
34	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
35	INPP5D	Inositol Polyphosphate-5-Phosphatase D	Protein Coding	1
36	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	1
37	HK3	Hexokinase 3	Protein Coding	1
38	HIP1	Huntingtin Interacting Protein 1	Protein Coding	1
39	H3-3A	H3.3 Histone A	Protein Coding	1
40	H2AX	H2A.X Variant Histone	Protein Coding	1
41	BABAM1	BRISC And BRCA1 A Complex Member 1	Protein Coding	1
42	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	1
43	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
44	GRK6	G Protein-Coupled Receptor Kinase 6	Protein Coding	1
45	GNAI3	G Protein Subunit Alpha I3	Protein Coding	1
46	GNAI2	G Protein Subunit Alpha I2	Protein Coding	1
47	GNAI1	G Protein Subunit Alpha I1	Protein Coding	1
48	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
49	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	1
50	FAF2	Fas Associated Factor Family Member 2	Protein Coding	1
51	KDM6B	Lysine Demethylase 6B	Protein Coding	1
52	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	1
53	FGF1	Fibroblast Growth Factor 1	Protein Coding	1
54	F12	Coagulation Factor XII	Protein Coding	1
55	HIGD2A	HIG1 Hypoxia Inducible Domain Family Member 2A	Protein Coding	1
56	DRD2	Dopamine Receptor D2	Protein Coding	1
57	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	1
58	COX7C	Cytochrome C Oxidase Subunit 7C	Protein Coding	1
59	COX7B	Cytochrome C Oxidase Subunit 7B	Protein Coding	1
60	COX6B1	Cytochrome C Oxidase Subunit 6B1	Protein Coding	1
61	COX6A1	Cytochrome C Oxidase Subunit 6A1	Protein Coding	1
62	COX5B	Cytochrome C Oxidase Subunit 5B	Protein Coding	1
63	CLTB	Clathrin Light Chain B	Protein Coding	1
64	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	1
65	TMED2	Transmembrane P24 Trafficking Protein 2	Protein Coding	1
66	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	1
67	USH1C	USH1 Protein Network Component Harmonin	Protein Coding	1
68	MIR1271	MicroRNA 1271	RNA Gene	1
69	DBN1	Drebrin 1	Protein Coding	1
70	BABAM2	BRISC And BRCA1 A Complex Member 2	Protein Coding	1
71	MAGED1	MAGE Family Member D1	Protein Coding	1
72	COX5A	Cytochrome C Oxidase Subunit 5A	Protein Coding	1
73	PDLIM7	PDZ And LIM Domain 7	Protein Coding	1
74	UNC5A	Unc-5 Netrin Receptor A	Protein Coding	1
75	ABRAXAS1	Abraxas 1, BRCA1 A Complex Subunit	Protein Coding	1
76	COX8A	Cytochrome C Oxidase Subunit 8A	Protein Coding	1
77	COX7A1	Cytochrome C Oxidase Subunit 7A1	Protein Coding	1
78	COX6C	Cytochrome C Oxidase Subunit 6C	Protein Coding	1
79	COX4I1	Cytochrome C Oxidase Subunit 4I1	Protein Coding	1
80	GPRIN1	G Protein Regulated Inducer Of Neurite Outgrowth 1	Protein Coding	1
81	TMED10	Transmembrane P24 Trafficking Protein 10	Protein Coding	1
82	FRS2	Fibroblast Growth Factor Receptor Substrate 2	Protein Coding	1
83	RN7SL684P	RNA, 7SL, Cytoplasmic 684, Pseudogene	Pseudogene	1
84	RGS14	Regulator Of G Protein Signaling 14	Protein Coding	1
85	MXD3	MAX Dimerization Protein 3	Protein Coding	1
86	PRR7	Proline Rich 7, Synaptic	Protein Coding	1
87	BRCC3	BRCA1/BRCA2-Containing Complex Subunit 3	Protein Coding	1
88	PTPRN2	Protein Tyrosine Phosphatase Receptor Type N2	Protein Coding	1
89	KIAA1191	KIAA1191	Protein Coding	1
90	CDHR2	Cadherin Related Family Member 2	Protein Coding	1
91	FAM193B	Family With Sequence Similarity 193 Member B	Protein Coding	1
92	RAB24	RAB24, Member RAS Oncogene Family	Protein Coding	1
93	CDHR5	Cadherin Related Family Member 5	Protein Coding	1
94	UIMC1	Ubiquitin Interaction Motif Containing 1	Protein Coding	1
95	TRIAP1	TP53 Regulated Inhibitor Of Apoptosis 1	Protein Coding	1
96	MYO7B	Myosin VIIB	Protein Coding	1
97	SIMC1	SUMO Interacting Motifs Containing 1	Protein Coding	1
98	PFN3	Profilin 3	Protein Coding	1
99	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
100	ARL10	ARF Like GTPase 10	Protein Coding	1
101	PRELID1	PRELI Domain Containing 1	Protein Coding	1
102	TSPAN17	Tetraspanin 17	Protein Coding	1
103	NELFB	Negative Elongation Factor Complex Member B	Protein Coding	1
104	ANKS4B	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 4B	Protein Coding	1
105	EIF4E1B	Eukaryotic Translation Initiation Factor 4E Family Member 1B	Protein Coding	1
106	ZNF346	Zinc Finger Protein 346	Protein Coding	1
107	HIC2	HIC ZBTB Transcriptional Repressor 2	Protein Coding	1
108	RNF44	Ring Finger Protein 44	Protein Coding	1
109	MIR4281	MicroRNA 4281	RNA Gene	1

Disorders associated with 5q35 copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cox deficiency, benign infantile mitochondrial myopathy	Enrichment	COX4I1, COX5A, COX6B1, COX8A	5.43
2	Factor xii deficiency	Enrichment	F12, SLC34A1	4.19
3	Dementia, lewy body	Enrichment	SNCA, SNCB	3.20
4	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	COX4I1, COX6B1, COX8A	3.16
5	Overgrowth syndrome	Enrichment	NSD1, PIK3R1	2.88
6	Breast cancer	Enrichment	ABRAXAS1, BARD1, BRCA1, JUN	2.51
7	Colorectal cancer	Enrichment	BRCA1, FBXW7, PIK3R1, SRC	2.28
8	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	2.09
9	Parkinson disease 1, autosomal dominant	Enrichment	SNCA	2.09
10	Linear skin defects with multiple congenital anomalies 2	Enrichment	COX7B	2.09
11	Usher syndrome, type ic	Enrichment	USH1C	2.09
12	Deafness, autosomal recessive 18a	Enrichment	USH1C	2.09
13	Deafness, autosomal recessive 26	Enrichment	GAB1	2.09
14	Angioedema, hereditary, 3	Enrichment	F12	2.09
15	Noonan syndrome 4	Enrichment	SOS1	2.09
16	Congenital myopathy 23	Enrichment	TPM2	2.09
17	Ehlers-danlos syndrome, spondylodysplastic type, 1	Enrichment	B4GALT7	2.09
18	Parkinson disease 4, autosomal dominant	Enrichment	SNCA	2.09
19	Whim syndrome 1	Enrichment	CXCR4	2.09
20	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	2.09
21	Fanconi renotubular syndrome 2	Enrichment	SLC34A1	2.09
22	Ventricular tachycardia, familial	Enrichment	GNAI2	2.09
23	Short syndrome	Enrichment	PIK3R1	2.09
24	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.09
25	Mirror movements 4	Enrichment	NTN1	2.09
26	Infant-type hemispheric glioma	Enrichment	BRCA1	2.09
27	Hypercalcemia, infantile, 2	Enrichment	SLC34A1	2.09
28	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	2.09
29	Alzheimer disease 18	Enrichment	ADAM10	2.09
30	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	2.09
31	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	2.09
32	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.09
33	Polydactyly-macrocephaly syndrome	Enrichment	MAX	2.09
34	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	2.09
35	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.09
36	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	2.09
37	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	2.09
38	Thrombocytopenia 6	Enrichment	SRC	2.09
39	Cohen-gibson syndrome	Enrichment	EED	2.09
40	Myeloproliferative/lymphoproliferative neoplasms, familial	Enrichment	DDX41	2.09
41	Bryant-li-bhoj neurodevelopmental syndrome 1	Enrichment	H3-3A	2.09
42	Mitochondrial complex iv deficiency, nuclear type 7	Enrichment	COX6B1	2.09
43	Mitochondrial complex iv deficiency, nuclear type 20	Enrichment	COX5A	2.09
44	Mitochondrial complex iv deficiency, nuclear type 16	Enrichment	COX4I1	2.09
45	Mitochondrial complex iv deficiency, nuclear type 15	Enrichment	COX8A	2.09
46	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	Enrichment	BRCC3	2.09
47	Spondylodysplastic ehlers-danlos syndrome	Enrichment	B4GALT7	2.09
48	Charcot-marie-tooth disease, recessive intermediate d	Enrichment	COX6A1	2.09
49	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Enrichment	CYP7A1	2.09
50	Developmental delay, hypotonia, and impaired language	Enrichment	FBXW7	2.09
51	Ddx41-related hematologic malignancy predisposition syndrome	Enrichment	DDX41	2.09
52	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	2.09
53	Progressive muscular atrophy	Enrichment	CAPN3	2.09
54	Urticaria	Enrichment	F12	2.09
55	5q35 microduplication syndrome	Enrichment	NSD1	2.09
56	Primary triglyceride deposit cardiomyovasculopathy	Enrichment	PNPLA2	2.09
57	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	2.09
58	Qualitative or quantitative defects of calpain	Enrichment	CAPN3	2.09
59	F12-associated cold autoinflammatory syndrome	Enrichment	F12	2.09
60	Primary peritoneal carcinoma	Enrichment	BRCA1	2.09
61	Endometrial cancer	Enrichment	BARD1, BRCA1	1.92
62	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ABL1, MYC	1.84
63	Scoliosis	Enrichment	GRIN2B, NSD1	1.80
64	Burkitt lymphoma	Enrichment	MYC	1.80
65	Hypoparathyroidism, familial isolated, 1	Enrichment	PTH	1.80
66	Holoprosencephaly 2	Enrichment	NSD1	1.80
67	Fibromatosis, gingival, 1	Enrichment	SOS1	1.80
68	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.80
69	Chanarin-dorfman syndrome	Enrichment	ABHD5	1.80
70	Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism	Enrichment	BRCC3	1.80
71	Pulmonic stenosis	Enrichment	SOS1	1.80
72	Neutral lipid storage disease with myopathy	Enrichment	PNPLA2	1.80
73	Hypophosphatemic rickets with hypercalciuria, hereditary	Enrichment	SLC34A1	1.80
74	Ehlers-danlos syndrome, spondylodysplastic type, 2	Enrichment	B4GALT7	1.80
75	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	1.80
76	Fanconi anemia, complementation group s	Enrichment	BRCA1	1.80
77	Pancreatic cancer 4	Enrichment	BRCA1	1.80
78	Parkinson disease 15, autosomal recessive early-onset	Enrichment	SNCA	1.80
79	Bilateral generalized polymicrogyria	Enrichment	GRIN1	1.80
80	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	Enrichment	SLC34A1	1.80
81	Hereditary angioedema	Enrichment	F12	1.80
82	Hypopituitarism	Enrichment	GNAI2	1.80
83	Inflammatory breast carcinoma	Enrichment	BRCA1	1.80
84	Stolerman neurodevelopmental syndrome	Enrichment	KDM6B	1.80
85	Bryant-li-bhoj neurodevelopmental syndrome 2	Enrichment	H3-3A	1.80
86	Peritoneum cancer	Enrichment	BRCA1	1.80
87	Autosomal recessive infantile hypercalcemia	Enrichment	SLC34A1	1.80
88	Bilateral breast cancer	Enrichment	BRCA1	1.80
89	Deletion 5q35	Enrichment	NSD1	1.80
90	Angioedema	Enrichment	F12	1.80
91	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	SLC34A1	1.80
92	Inherited cancer-predisposing syndrome	Enrichment	ABRAXAS1, BARD1, BRCA1, MAX	1.66
93	Angioedema, hereditary, 1	Enrichment	F12	1.62
94	Weaver syndrome	Enrichment	NSD1	1.62
95	Linear skin defects with multiple congenital anomalies 1	Enrichment	COX7B	1.62
96	Nuchal bleb, familial	Enrichment	SOS1	1.62
97	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	1.62
98	Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects	Enrichment	B4GALT7	1.62
99	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.62
100	Muscular dystrophy, limb-girdle, autosomal dominant 4	Enrichment	CAPN3	1.62
101	Autosomal recessive limb-girdle muscular dystrophy type 2a	Enrichment	CAPN3	1.62
102	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.62
103	Larsen-like syndrome b3gat3 type	Enrichment	B4GALT7	1.62
104	Familial isolated hypoparathyroidism	Enrichment	PTH	1.62
105	Immunodeficiency 14	Enrichment	PIK3R1	1.62
106	T-cell acute lymphoblastic leukemia	Enrichment	ABL1	1.62
107	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.62
108	Cap myopathy	Enrichment	TPM2	1.62
109	Mirror movements 1	Enrichment	NTN1	1.50
110	Dowling-degos disease 1	Enrichment	ADAM10	1.50
111	Astigmatism	Enrichment	GRIN2B	1.50
112	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1	1.50
113	Auriculocondylar syndrome 1	Enrichment	GNAI3	1.50
114	Cholangiocarcinoma	Enrichment	BRCA1	1.50
115	Achromatopsia 4	Enrichment	GNAI3	1.50
116	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	ABL1	1.50
117	Sotos syndrome 1	Enrichment	NSD1	1.50
118	Primary hyperparathyroidism	Enrichment	PTH	1.50
119	Primary fanconi renotubular syndrome	Enrichment	SLC34A1	1.50
120	Gingival fibromatosis	Enrichment	SOS1	1.50
121	Sotos syndrome	Enrichment	NSD1	1.40
122	Arthrogryposis, distal, type 2b1	Enrichment	TPM2	1.40
123	Insulin-like growth factor i	Enrichment	IGF1R	1.40
124	Breast-ovarian cancer, familial 2	Enrichment	BRCA1	1.40
125	Pre-eclampsia	Enrichment	NSD1	1.40
126	Pervasive developmental disorder	Enrichment	FBXW7	1.40
127	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	CAPN3	1.40
128	Inherited acute myeloid leukemia	Enrichment	DDX41	1.40
129	Sleep disorder	Enrichment	GRIN2B	1.40
130	Rare pervasive developmental disorder	Enrichment	FBXW7	1.40
131	Leukemia, acute myeloid	Enrichment	DDX41, NSD1	1.39
132	Gastric cancer	Enrichment	BARD1, BRCA1	1.33
133	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	B4GALT7	1.33
134	Dystonia 11, myoclonic	Enrichment	DRD2	1.33
135	Muscular dystrophy, limb-girdle, autosomal recessive 1	Enrichment	CAPN3	1.33
136	Typical nemaline myopathy	Enrichment	TPM2	1.33
137	West syndrome	Enrichment	GRIN1, GRIN2B	1.31
138	Hereditary breast carcinoma	Enrichment	BARD1, BRCA1	1.31
139	Myelofibrosis	Enrichment	SRC	1.26
140	Leukemia, chronic myeloid	Enrichment	ABL1	1.26
141	Noonan syndrome 3	Enrichment	SOS1	1.26
142	Childhood-onset nemaline myopathy	Enrichment	TPM2	1.26
143	Oligoarticular juvenile idiopathic arthritis	Enrichment	PTPN2	1.26
144	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	PTPN2	1.26
145	Moyamoya angiopathy	Enrichment	ABL1	1.26
146	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	ABL1	1.26
147	Autosomal dominant non-syndromic intellectual disability	Enrichment	GRIN1, GRIN2B	1.21
148	Arthrogryposis, distal, type 1a	Enrichment	TPM2	1.20
149	Glioma susceptibility 1	Enrichment	H3-3A	1.20
150	Lennox-gastaut syndrome	Enrichment	MAPK10	1.20
151	Congenital muscular dystrophy	Enrichment	CAPN3	1.20
152	Limb-girdle muscular dystrophy	Enrichment	CAPN3	1.15
153	Hereditary breast ovarian cancer syndrome	Enrichment	BARD1, BRCA1	1.14
154	Microcephaly	Enrichment	ABL1, GRIN2B, IGF1R	1.12
155	Nephrocalcinosis	Enrichment	SLC34A1	1.11
156	Nemaline myopathy	Enrichment	TPM2	1.11
157	Nephrolithiasis	Enrichment	SLC34A1	1.11
158	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.11
159	Migraine with or without aura 1	Enrichment	CAPN3	1.07
160	Myelodysplastic syndrome	Enrichment	DDX41	1.07
161	Usher syndrome type 2	Enrichment	USH1C	1.07
162	Bilirubin metabolic disorder	Enrichment	F12	1.07
163	Uterine corpus cancer	Enrichment	BRCA1	1.07
164	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	CAPN3	1.03
165	Early-onset parkinson's disease	Enrichment	SNCA	1.03
166	Lip and oral cavity carcinoma	Enrichment	ABL1	1.03
167	Aortic valve disease 1	Enrichment	SOS1	1.00
168	Breast-ovarian cancer, familial 1	Enrichment	BRCA1	1.00
169	Nk-cell enteropathy	Enrichment	IGF1R	1.00
170	Osteoporosis	Enrichment	SRC	0.97
171	Pheochromocytoma	Enrichment	MAX	0.97
172	Periventricular nodular heterotopia	Enrichment	BRCA1	0.97
173	Heart disease	Enrichment	ABL1	0.97
174	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.97
175	Congenital myopathy 4a, autosomal dominant	Enrichment	TPM2	0.94
176	Osteogenesis imperfecta, type iii	Enrichment	SLC34A1	0.94
177	Usher syndrome, type i	Enrichment	USH1C	0.94
178	Noonan syndrome and noonan-related syndrome	Enrichment	SOS1	0.94
179	Creatine phosphokinase, elevated serum	Enrichment	CAPN3	0.92
180	Hypertension	Enrichment	F12	0.92
181	Isolated elevated serum creatine phosphokinase levels	Enrichment	CAPN3	0.92
182	Rhabdomyosarcoma	Enrichment	BRCA1	0.92
183	Beckwith-wiedemann syndrome	Enrichment	NSD1	0.87
184	Early infantile developmental and epileptic encephalopathy	Enrichment	GRIN1	0.87
185	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	CAPN3	0.85
186	Craniosynostosis	Enrichment	GRIN2B	0.83
187	Hepatoblastoma	Enrichment	BARD1	0.81
188	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	MAX	0.81
189	Noonan syndrome 1	Enrichment	SOS1	0.77
190	Parkinson disease, late-onset	Enrichment	SNCA	0.75
191	Muscular dystrophy	Enrichment	CAPN3	0.75
192	Pancreatic cancer	Enrichment	BRCA1	0.74
193	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1	0.74
194	Hydrops fetalis, nonimmune	Enrichment	NSD1	0.72
195	Rasopathy	Enrichment	SOS1	0.72
196	Ovarian cancer	Enrichment	BARD1, BRCA1	0.71
197	Bladder cancer	Enrichment	BRCA1	0.68
198	Prostate cancer	Enrichment	BRCA1	0.68
199	Autism spectrum disorder	Enrichment	EED, GRIN2B	0.66
200	Non-immune hydrops fetalis	Enrichment	NSD1	0.65
201	Lung cancer	Enrichment	BRCA1	0.64
202	Peripheral nervous system disease	Enrichment	COX6A1	0.64
203	Neuropathy	Enrichment	COX6A1	0.64
204	Usher syndrome	Enrichment	USH1C	0.63
205	Fanconi anemia, complementation group a	Enrichment	BRCA1	0.61
206	Cerebral palsy	Enrichment	GRIN2B	0.57
207	Epilepsy	Enrichment	GRIN2B	0.56
208	Myopathy	Enrichment	CAPN3	0.56
209	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN1	0.55
210	Distal arthrogryposis	Enrichment	TPM2	0.54
211	Centralopathic epilepsy	Enrichment	GRIN1	0.53
212	Thrombocytopenia	Enrichment	SRC	0.49
213	Hypertelorism	Enrichment	NSD1	0.46
214	Myeloma, multiple	Enrichment	BARD1	0.44
215	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIN1	0.43
216	Deafness, autosomal recessive	Enrichment	USH1C	0.40
217	Autosomal recessive nonsyndromic deafness	Enrichment	USH1C	0.39
218	Rare genetic deafness	Enrichment	USH1C	0.33
219	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	USH1C	0.29
220	Complex neurodevelopmental disorder	Enrichment	GRIN2B	0.20
221	Retinitis pigmentosa	Enrichment	USH1C	0.09
222	Hereditary retinal dystrophy	Enrichment	USH1C	0.04
223	Fundus dystrophy	Enrichment	USH1C	0.04

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

5q35 copy number variation

Pathway Network for 5q35 copy number variation

Member Pathways for 5q35 copy number variation

Pathways in the 5q35 copy number variation SuperPath

Associated Genes for 5q35 copy number variation

Associated Disorders for 5q35 copy number variation

Disorders associated with 5q35 copy number variation SuperPath

STRING Interaction Network for 5q35 copy number variation

Sources for 5q35 copy number variation