3q29 copy number variation syndrome

No Pathway Network information available for 3q29 copy number variation syndrome

Pathways in the 3q29 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	3q29 copy number variation syndrome	WikiPathways	ADAM10 AKT1 BRINP1 CASP7 CEP19 CEP350 CEP43 DLG1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLL1 DYNLT2B FBXO45 FBXW7 FNDC8 GRIA1 HAMP HFE HIF1A JUN MAD2L1BP MCRS1 MELTF MYC MYCBP2 NCBP1 NCBP2 NF2 NRROS PAK2 PCYT1A PIGM PIGX PIGZ PIK3R3 PXN RABL2B RNF168 RNF8 RNU2-11P RNU4-89P RNU6-646P RNU7-18P SENP5 SIRT1 SLC40A1 SLC51A SLC51B SMCO1 STAT5A STAT5B TF TFRC TGFB1 TM4SF19 UBE2N UBXN7 WDR53 ZDHHC19 ZNF76 (see all 62) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	PIGZ	Phosphatidylinositol Glycan Anchor Biosynthesis Class Z (Gwada Blood Group)	Protein Coding	1
2	PIGX	Phosphatidylinositol Glycan Anchor Biosynthesis Class X	Protein Coding	1
3	PIGM	Phosphatidylinositol Glycan Anchor Biosynthesis Class M	Protein Coding	1
4	RNF8	Ring Finger Protein 8	Protein Coding	1
5	DYNC2I2	Dynein 2 Intermediate Chain 2	Protein Coding	1
6	DYNLL1	Dynein Light Chain LC8-Type 1	Protein Coding	1
7	CEP19	Centrosomal Protein 19	Protein Coding	1
8	CASP7	Caspase 7	Protein Coding	1
9	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	1
10	UBE2N	Ubiquitin Conjugating Enzyme E2 N	Protein Coding	1
11	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
12	TFRC	Transferrin Receptor	Protein Coding	1
13	TF	Transferrin	Protein Coding	1
14	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	1
15	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	1
16	PXN	Paxillin	Protein Coding	1
17	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	1
18	FBXW7	F-Box And WD Repeat Domain Containing 7	Protein Coding	1
19	DYNC2I1	Dynein 2 Intermediate Chain 1	Protein Coding	1
20	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	1
21	PCYT1A	Phosphate Cytidylyltransferase 1A, Choline	Protein Coding	1
22	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
23	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	1
24	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
25	MELTF	Melanotransferrin	Protein Coding	1
26	NRROS	Negative Regulator Of Reactive Oxygen Species	Protein Coding	1
27	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
28	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
29	HFE	Homeostatic Iron Regulator	Protein Coding	1
30	SLC40A1	Solute Carrier Family 40 Member 1	Protein Coding	1
31	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	1
32	DYNLT2B	Dynein Light Chain Tctex-Type 2B	Protein Coding	1
33	SIRT1	Sirtuin 1	Protein Coding	1
34	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
35	SLC51A	Solute Carrier Family 51 Member A	Protein Coding	1
36	DLG1	Discs Large MAGUK Scaffold Protein 1	Protein Coding	1
37	RNF168	Ring Finger Protein 168	Protein Coding	1
38	SLC51B	SLC51 Subunit Beta	Protein Coding	1
39	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	1
40	BRINP1	BMP/Retinoic Acid Inducible Neural Specific 1	Protein Coding	1
41	CEP350	Centrosomal Protein 350	Protein Coding	1
42	MAD2L1BP	MAD2L1 Binding Protein	Protein Coding	1
43	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
44	ZDHHC19	ZDHHC Palmitoyltransferase 19	Protein Coding	1
45	TM4SF19	Transmembrane 4 L Six Family Member 19	Protein Coding	1
46	RABL2B	RAB, Member Of RAS Oncogene Family Like 2B	Protein Coding	1
47	CEP43	Centrosomal Protein 43	Protein Coding	1
48	RNU2-11P	RNA, U2 Small Nuclear 11, Pseudogene	Pseudogene	1
49	RNU6-646P	RNA, U6 Small Nuclear 646, Pseudogene	Pseudogene	1
50	RNU4-89P	RNA, U4 Small Nuclear 89, Pseudogene	Pseudogene	1
51	MCRS1	Microspherule Protein 1	Protein Coding	1
52	ZNF76	Zinc Finger Protein 76	Protein Coding	1
53	FNDC8	Fibronectin Type III Domain Containing 8	Protein Coding	1
54	NCBP1	Nuclear Cap Binding Protein Subunit 1	Protein Coding	1
55	WDR53	WD Repeat Domain 53	Protein Coding	1
56	UBXN7	UBX Domain Protein 7	Protein Coding	1
57	SMCO1	Single-Pass Membrane Protein With Coiled-Coil Domains 1	Protein Coding	1
58	MYCBP2	MYC Binding Protein 2	Protein Coding	1
59	NCBP2	Nuclear Cap Binding Protein Subunit 2	Protein Coding	1
60	SENP5	SUMO Specific Peptidase 5	Protein Coding	1
61	FBXO45	F-Box Protein 45	Protein Coding	1
62	RNU7-18P	RNA, U7 Small Nuclear 18 Pseudogene	Pseudogene	1

Disorders associated with 3q29 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, DYNLT2B	6.72
2	Short rib-polydactyly syndrome, verma-naumoff type	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2	6.04
3	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1	4.83
4	Digenic hemochromatosis	Enrichment	HAMP, HFE	3.91
5	Jeune thoracic dystrophy	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2	3.71
6	Asphyxiating thoracic dystrophy	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2	3.56
7	Hemochromatosis, type 1	Enrichment	HAMP, HFE	3.25
8	Meningioma	Enrichment	AKT1, NF2	2.88
9	Proteus syndrome	Enrichment	AKT1	2.34
10	Schwannomatosis, vestibular	Enrichment	NF2	2.34
11	Atransferrinemia	Enrichment	TF	2.34
12	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.34
13	Knobloch syndrome 2	Enrichment	PAK2	2.34
14	Seizures, early-onset, with neurodegeneration and brain calcifications	Enrichment	NRROS	2.34
15	Hemochromatosis, type 4	Enrichment	SLC40A1	2.34
16	Alzheimer disease 18	Enrichment	ADAM10	2.34
17	Morbid obesity and spermatogenic failure	Enrichment	CEP19	2.34
18	Riddle syndrome	Enrichment	RNF168	2.34
19	Cowden syndrome 6	Enrichment	AKT1	2.34
20	Immunodeficiency 46	Enrichment	TFRC	2.34
21	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	2.34
22	Hemochromatosis, type 2b	Enrichment	HAMP	2.34
23	Short-rib thoracic dysplasia 8 with or without polydactyly	Enrichment	DYNC2I1	2.34
24	Intellectual developmental disorder, autosomal dominant 67	Enrichment	GRIA1	2.34
25	Intellectual developmental disorder, autosomal recessive 76	Enrichment	GRIA1	2.34
26	Cholestasis, progressive familial intrahepatic, 6	Enrichment	SLC51A	2.34
27	Lung disease	Enrichment	DYNC2H1	2.34
28	Developmental delay, hypotonia, and impaired language	Enrichment	FBXW7	2.34
29	Acoustic neuroma	Enrichment	NF2	2.34
30	Burkitt lymphoma	Enrichment	MYC	2.04
31	Camurati-engelmann disease 1	Enrichment	TGFB1	2.04
32	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	2.04
33	Schwannomatosis 1	Enrichment	NF2	2.04
34	Porphyria cutanea tarda, type i	Enrichment	HFE	2.04
35	Glycosylphosphatidylinositol biosynthesis defect 1	Enrichment	PIGM	2.04
36	Spondylometaphyseal dysplasia with cone-rod dystrophy	Enrichment	PCYT1A	2.04
37	Short-rib thoracic dysplasia 17 with or without polydactyly	Enrichment	DYNLT2B	2.04
38	Sitosterolemia 2	Enrichment	DYNC2LI1	2.04
39	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	2.04
40	Bile acid malabsorption, primary, 2	Enrichment	SLC51B	2.04
41	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	DYNC2LI1	2.04
42	Camurati-engelmann disease	Enrichment	TGFB1	2.04
43	Hemochromatosis type 2	Enrichment	HFE	2.04
44	Lipodystrophy, congenital generalized, type 5	Enrichment	PCYT1A	2.04
45	Hjv or hamp-related hemochromatosis	Enrichment	HAMP	2.04
46	Laron syndrome with immunodeficiency	Enrichment	STAT5B	2.04
47	Cystic fibrosis	Enrichment	HFE, TGFB1	2.03
48	Microvascular complications of diabetes 7	Enrichment	HFE	1.86
49	Sitosterolemia 1	Enrichment	DYNC2LI1	1.86
50	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	DYNC2I2	1.86
51	Transferrin serum level quantitative trait locus 2	Enrichment	HFE	1.86
52	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.86
53	Sitosterolemia	Enrichment	DYNC2LI1	1.86
54	Cholestasis	Enrichment	SLC51B	1.86
55	Cellular ependymoma	Enrichment	NF2	1.86
56	Tanycytic ependymoma	Enrichment	NF2	1.86
57	Papillary ependymoma	Enrichment	NF2	1.86
58	Familial porphyria cutanea tarda	Enrichment	HFE	1.86
59	Spindle cell sarcoma	Enrichment	NF2	1.86
60	Clear cell ependymoma	Enrichment	NF2	1.86
61	Enchondromatosis	Enrichment	HIF1A	1.86
62	Porphyria cutanea tarda	Enrichment	HFE	1.74
63	Dowling-degos disease 1	Enrichment	ADAM10	1.74
64	Newborn respiratory distress syndrome	Enrichment	DYNC2H1	1.74
65	Knobloch syndrome	Enrichment	PAK2	1.74
66	Full schwannomatosis	Enrichment	NF2	1.74
67	Benign ependymoma	Enrichment	NF2	1.74
68	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	1.64
69	Variegate porphyria	Enrichment	HFE	1.64
70	Knobloch syndrome 1	Enrichment	PAK2	1.64
71	Pervasive developmental disorder	Enrichment	FBXW7	1.64
72	Rare pervasive developmental disorder	Enrichment	FBXW7	1.64
73	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.57
74	Pain disorder	Enrichment	HFE	1.57
75	Diarrhea	Enrichment	SLC51B	1.57
76	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.57
77	Breast adenocarcinoma	Enrichment	AKT1	1.57
78	Short rib-polydactyly syndrome	Enrichment	DYNC2H1	1.57
79	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A	1.50
80	Alzheimer's disease 1	Enrichment	HFE	1.50
81	Polycystic kidney disease 4 with or without polycystic liver disease	Enrichment	DYNC2H1	1.44
82	Short-rib thoracic dysplasia 12	Enrichment	DYNC2H1	1.44
83	Ellis-van creveld syndrome	Enrichment	DYNC2LI1	1.39
84	Cowden syndrome	Enrichment	AKT1	1.39
85	Primary bone dysplasia	Enrichment	DYNC2H1	1.35
86	Breast cancer	Enrichment	AKT1, JUN	1.34
87	Meningioma, familial	Enrichment	NF2	1.31
88	Combined immunodeficiency	Enrichment	TFRC	1.31
89	Osteochondrodysplasia	Enrichment	DYNC2H1	1.31
90	Combined t cell and b cell immunodeficiency	Enrichment	TFRC	1.31
91	Combined t and b cell immunodeficiency	Enrichment	TFRC	1.31
92	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	DYNC2H1	1.27
93	Acute promyelocytic leukemia	Enrichment	STAT5B	1.24
94	Alzheimer's disease	Enrichment	HFE	1.24
95	Colorectal cancer	Enrichment	AKT1, FBXW7	1.22
96	Cleft lip/palate	Enrichment	DLG1	1.21
97	Alzheimer disease, familial, 1	Enrichment	HFE	1.13
98	Heart, malformation of	Enrichment	DYNC2H1	1.10
99	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.00
100	Inherited cancer-predisposing syndrome	Enrichment	HFE, NF2	0.91
101	Peripheral nervous system disease	Enrichment	HFE	0.86
102	Neuropathy	Enrichment	HFE	0.86
103	Bardet-biedl syndrome	Enrichment	CEP19	0.76
104	Hereditary breast carcinoma	Enrichment	AKT1	0.74
105	Autosomal dominant non-syndromic intellectual disability	Enrichment	GRIA1	0.69
106	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIA1	0.63
107	Leber plus disease	Enrichment	PCYT1A	0.45
108	Ovarian cancer	Enrichment	AKT1	0.43
109	Congenital nervous system abnormality	Enrichment	HFE	0.41
110	Nervous system disease	Enrichment	HFE	0.41
111	Autism spectrum disorder	Enrichment	GRIA1	0.40
112	Hereditary retinal dystrophy	Enrichment	DYNC2H1	0.13
113	Fundus dystrophy	Enrichment	DYNC2H1	0.13

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

3q29 copy number variation syndrome

Pathway Network for 3q29 copy number variation syndrome

Member Pathways for 3q29 copy number variation syndrome

Pathways in the 3q29 copy number variation syndrome SuperPath

Associated Genes for 3q29 copy number variation syndrome

Associated Disorders for 3q29 copy number variation syndrome

Disorders associated with 3q29 copy number variation syndrome SuperPath

STRING Interaction Network for 3q29 copy number variation syndrome

Sources for 3q29 copy number variation syndrome