17q12 copy number variation syndrome

No Pathway Network information available for 17q12 copy number variation syndrome

Pathways in the 17q12 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	17q12 copy number variation syndrome	WikiPathways	AATF ACACA AP2B1 ARHGAP23 ARL5C ASIC2 C17orf50 C17orf78 CACNB1 CCL1 CCL11 CCL13 CCL14 CCL15 CCL16 CCL18 CCL2 CCL3 CCL3L1 CCL3L3 CCL4 CCL4L1 CCL4L2 CCL5 CCL7 CCL8 CCT6B CDK12 CISD3 CWC25 DDX52 DHRS11 DUSP14 EPOP ERBB2 FBXL20 FBXO47 FNDC8 GAS2L2 GGNBP2 GPR179 GRB7 HEATR9 HNF1B IKZF3 LASP1 LHX1 LIG3 LYZL6 MED1 MIEN1 MLLT6 MMP28 MRM1 MRPL45 MYO19 NEUROD2 NLE1 PCGF2 PEX12 PGAP3 PIGW PIP4K2B PLXDC1 PNMT PPP1R1B RAD51D RASL10B RDM1 RFFL RPL23 SLC35G3 SLFN11 SLFN12 SLFN13 SLFN14 SLFN5 SOCS7 SPMAP1 SRCIN1 STAC2 STARD3 SYNRG TADA2A TAF15 TBC1D3 TBC1D3B TBC1D3C TBC1D3G TBC1D3H TBC1D3I TBC1D3K TBC1D3L TCAP TEC TLK2P1 TMEM132E TMEM132E-DT UNC45B ZNF830 ZNHIT3 (see all 101) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	CCL3L1	C-C Motif Chemokine Ligand 3 Like 1	Protein Coding	1
2	CCL4L1	C-C Motif Chemokine Ligand 4 Like 1	Protein Coding	1
3	TEC	Tec Protein Tyrosine Kinase	Protein Coding	1
4	PIP4K2B	Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Beta	Protein Coding	1
5	DHRS11	Dehydrogenase/Reductase 11	Protein Coding	1
6	LYZL6	Lysozyme Like 6	Protein Coding	1
7	SLFN12	Schlafen Family Member 12	Protein Coding	1
8	SLC35G3	Solute Carrier Family 35 Member G3	Protein Coding	1
9	ZNHIT3	Zinc Finger HIT-Type Containing 3	Protein Coding	1
10	PGAP3	Post-GPI Attachment To Proteins Phospholipase 3	Protein Coding	1
11	RASL10B	RAS Like Family 10 Member B	Protein Coding	1
12	TCAP	Titin-Cap	Protein Coding	1
13	PPP1R1B	Protein Phosphatase 1 Regulatory Inhibitor Subunit 1B	Protein Coding	1
14	TAF15	TATA-Box Binding Protein Associated Factor 15	Protein Coding	1
15	SRCIN1	SRC Kinase Signaling Inhibitor 1	Protein Coding	1
16	HNF1B	HNF1 Homeobox B	Protein Coding	1
17	CCL18	C-C Motif Chemokine Ligand 18	Protein Coding	1
18	CCL14	C-C Motif Chemokine Ligand 14	Protein Coding	1
19	CCL11	C-C Motif Chemokine Ligand 11	Protein Coding	1
20	CCL8	C-C Motif Chemokine Ligand 8	Protein Coding	1
21	CCL7	C-C Motif Chemokine Ligand 7	Protein Coding	1
22	CCL5	C-C Motif Chemokine Ligand 5	Protein Coding	1
23	CCL4	C-C Motif Chemokine Ligand 4	Protein Coding	1
24	CCL3	C-C Motif Chemokine Ligand 3	Protein Coding	1
25	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	1
26	CCL1	C-C Motif Chemokine Ligand 1	Protein Coding	1
27	RAD51D	RAD51 Paralog D	Protein Coding	1
28	ARHGAP23	Rho GTPase Activating Protein 23	Protein Coding	1
29	PLXDC1	Plexin Domain Containing 1	Protein Coding	1
30	MED1	Mediator Complex Subunit 1	Protein Coding	1
31	PEX12	Peroxisomal Biogenesis Factor 12	Protein Coding	1
32	CDK12	Cyclin Dependent Kinase 12	Protein Coding	1
33	GPR179	G Protein-Coupled Receptor 179	Protein Coding	1
34	CCL3L3	C-C Motif Chemokine Ligand 3 Like 3	Protein Coding	1
35	ASIC2	Acid Sensing Ion Channel Subunit 2	Protein Coding	1
36	LHX1	LIM Homeobox 1	Protein Coding	1
37	LASP1	LIM And SH3 Protein 1	Protein Coding	1
38	SLFN14	Schlafen Family Member 14	Protein Coding	1
39	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	1
40	SOCS7	Suppressor Of Cytokine Signaling 7	Protein Coding	1
41	GRB7	Growth Factor Receptor Bound Protein 7	Protein Coding	1
42	PIGW	Phosphatidylinositol Glycan Anchor Biosynthesis Class W	Protein Coding	1
43	IKZF3	IKAROS Family Zinc Finger 3	Protein Coding	1
44	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
45	UNC45B	Unc-45 Myosin Chaperone B	Protein Coding	1
46	SYNRG	Synergin Gamma	Protein Coding	1
47	STARD3	StAR Related Lipid Transfer Domain Containing 3	Protein Coding	1
48	CCT6B	Chaperonin Containing TCP1 Subunit 6B	Protein Coding	1
49	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	1
50	SLFN5	Schlafen Family Member 5	Protein Coding	1
51	SLFN13	Schlafen Family Member 13	Protein Coding	1
52	C17orf50	Chromosome 17 Open Reading Frame 50	Protein Coding	1
53	CCL4L2	C-C Motif Chemokine Ligand 4 Like 2	Protein Coding	1
54	RPL23	Ribosomal Protein L23	Protein Coding	1
55	ZNF830	Zinc Finger Protein 830	Protein Coding	1
56	FBXL20	F-Box And Leucine Rich Repeat Protein 20	Protein Coding	1
57	MRPL45	Mitochondrial Ribosomal Protein L45	Protein Coding	1
58	MIEN1	Migration And Invasion Enhancer 1	Protein Coding	1
59	TMEM132E	Transmembrane Protein 132E	Protein Coding	1
60	RFFL	Ring Finger And FYVE Like Domain Containing E3 Ubiquitin Protein Ligase	Protein Coding	1
61	DUSP14	Dual Specificity Phosphatase 14	Protein Coding	1
62	DDX52	DExD-Box Helicase 52	Protein Coding	1
63	TBC1D3I	TBC1 Domain Family Member 3I	Protein Coding	1
64	TBC1D3L	TBC1 Domain Family Member 3L	Protein Coding	1
65	TBC1D3K	TBC1 Domain Family Member 3K	Protein Coding	1
66	TBC1D3G	TBC1 Domain Family Member 3G	Protein Coding	1
67	MYO19	Myosin XIX	Protein Coding	1
68	MRM1	Mitochondrial RRNA Methyltransferase 1	Protein Coding	1
69	GGNBP2	Gametogenetin Binding Protein 2	Protein Coding	1
70	MMP28	Matrix Metallopeptidase 28	Protein Coding	1
71	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	1
72	PCGF2	Polycomb Group Ring Finger 2	Protein Coding	1
73	TBC1D3H	TBC1 Domain Family Member 3H	Protein Coding	1
74	TBC1D3	TBC1 Domain Family Member 3	Protein Coding	1
75	TADA2A	Transcriptional Adaptor 2A	Protein Coding	1
76	TLK2P1	Tousled Like Kinase 2 Pseudogene 1	Pseudogene	1
77	CCL16	C-C Motif Chemokine Ligand 16	Protein Coding	1
78	CCL15	C-C Motif Chemokine Ligand 15	Protein Coding	1
79	CCL13	C-C Motif Chemokine Ligand 13	Protein Coding	1
80	CWC25	CWC25 Spliceosome Associated Protein	Protein Coding	1
81	FNDC8	Fibronectin Type III Domain Containing 8	Protein Coding	1
82	NLE1	Notchless Homolog 1	Protein Coding	1
83	PNMT	Phenylethanolamine N-Methyltransferase	Protein Coding	1
84	FBXO47	F-Box Protein 47	Protein Coding	1
85	NEUROD2	Neuronal Differentiation 2	Protein Coding	1
86	MLLT6	MLLT6, PHD Finger Containing	Protein Coding	1
87	TBC1D3C	TBC1 Domain Family Member 3C	Protein Coding	1
88	TBC1D3B	TBC1 Domain Family Member 3B	Protein Coding	1
89	TMEM132E-DT	TMEM132E Divergent Transcript	RNA Gene	1
90	LIG3	DNA Ligase 3	Protein Coding	1
91	ARL5C	ARF Like GTPase 5C	Protein Coding	1
92	SPMAP1	Sperm Microtubule Associated Protein 1	Protein Coding	1
93	STAC2	SH3 And Cysteine Rich Domain 2	Protein Coding	1
94	SLFN11	Schlafen Family Member 11	Protein Coding	1
95	CISD3	CDGSH Iron Sulfur Domain 3	Protein Coding	1
96	C17orf78	Chromosome 17 Open Reading Frame 78	Protein Coding	1
97	AATF	Apoptosis Antagonizing Transcription Factor	Protein Coding	1
98	HEATR9	HEAT Repeat Containing 9	Protein Coding	1
99	GAS2L2	Growth Arrest Specific 2 Like 2	Protein Coding	1
100	RDM1	RAD52 Motif Containing 1	Protein Coding	1
101	EPOP	Elongin BC And Polycomb Repressive Complex 2 Associated Protein	Protein Coding	1

Disorders associated with 17q12 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Human immunodeficiency virus type 1	Enrichment	CCL11, CCL2, CCL3, CCL3L1, CCL5	6.78
2	Glycosylphosphatidylinositol biosynthesis defect 11	Enrichment	MYO19, PIGW	4.26
3	Mitochondrial dna depletion syndrome 20	Enrichment	ASIC2, LIG3	4.26
4	Chromosome 17q12 deletion syndrome	Enrichment	HNF1B, LHX1	3.79
5	Hyperphosphatasia with impaired intellectual development syndrome 1	Enrichment	PGAP3, PIGW	2.83
6	Lung cancer susceptibility 3	Enrichment	CDK12, ERBB2	2.33
7	Cleft palate, isolated	Enrichment	MYO19, PIGW	2.16
8	Paget disease, extramammary	Enrichment	ERBB2	2.13
9	Peroxisome biogenesis disorder 3b	Enrichment	PEX12	2.13
10	Prostate cancer, hereditary, 11	Enrichment	HNF1B	2.13
11	Peroxisome biogenesis disorder 3a	Enrichment	PEX12	2.13
12	Hyperphosphatasia with impaired intellectual development syndrome 4	Enrichment	PGAP3	2.13
13	Transient erythroblastopenia of childhood	Enrichment	TEC	2.13
14	Night blindness, congenital stationary, type 1e	Enrichment	GPR179	2.13
15	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.13
16	Muscular dystrophy, limb-girdle, autosomal recessive 7	Enrichment	TCAP	2.13
17	Cataract 43	Enrichment	UNC45B	2.13
18	Acetyl-coa carboxylase-alpha deficiency	Enrichment	ACACA	2.13
19	Developmental and epileptic encephalopathy 72	Enrichment	NEUROD2	2.13
20	Autosomal recessive limb-girdle muscular dystrophy type 2g	Enrichment	TCAP	2.13
21	Deafness, autosomal recessive 99	Enrichment	TMEM132E	2.13
22	Bleeding disorder, platelet-type, 20	Enrichment	SLFN14	2.13
23	Turnpenny-fry syndrome	Enrichment	PCGF2	2.13
24	Myopathy, myofibrillar, 11	Enrichment	UNC45B	2.13
25	Ciliary dyskinesia, primary, 41	Enrichment	GAS2L2	2.13
26	Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency	Enrichment	IKZF3	2.13
27	Medullary sponge kidney	Enrichment	HNF1B	2.13
28	Renal dysplasia, bilateral	Enrichment	HNF1B	2.13
29	Unilateral multicystic dysplastic kidney	Enrichment	HNF1B	2.13
30	Renal dysplasia, unilateral	Enrichment	HNF1B	2.13
31	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.13
32	Tubulointerstitial kidney disease, autosomal dominant 1	Enrichment	HNF1B	1.83
33	Renal cysts and diabetes syndrome	Enrichment	HNF1B	1.83
34	Congenital anomalies of kidney and urinary tract 2	Enrichment	HNF1B	1.83
35	Glycosylphosphatidylinositol biosynthesis defect 1	Enrichment	PIGW	1.83
36	Neutrophilia, hereditary	Enrichment	PIP4K2B	1.83
37	Cardiomyopathy, familial hypertrophic, 25	Enrichment	TCAP	1.83
38	Neutropenia, severe congenital, 7, autosomal recessive	Enrichment	PIP4K2B	1.83
39	Peho syndrome	Enrichment	ZNHIT3	1.83
40	Hyperuricemic nephropathy, familial juvenile, 3	Enrichment	HNF1B	1.83
41	Severe congenital neutropenia 7	Enrichment	PIP4K2B	1.83
42	Prostate cancer	Enrichment	HNF1B, RAD51D	1.71
43	Night blindness, congenital stationary, type 1b	Enrichment	GPR179	1.65
44	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	HNF1B	1.65
45	Breast-ovarian cancer, familial 4	Enrichment	RAD51D	1.65
46	Immunodeficiency 84	Enrichment	IKZF3	1.65
47	Chromophobe renal cell carcinoma	Enrichment	HNF1B	1.65
48	Hereditary site-specific ovarian cancer syndrome	Enrichment	RAD51D	1.65
49	Barrett esophagus	Enrichment	ERBB2	1.53
50	Cataract 6, multiple types	Enrichment	UNC45B	1.44
51	Chondrosarcoma, extraskeletal myxoid	Enrichment	TAF15	1.44
52	Breast-ovarian cancer, familial 2	Enrichment	TMEM132E	1.44
53	Ovarian cancer	Enrichment	ERBB2, HNF1B, RAD51D	1.40
54	Gastric cancer	Enrichment	ERBB2, RAD51D	1.39
55	Hereditary breast carcinoma	Enrichment	RAD51D, TMEM132E	1.37
56	Glioma susceptibility 1	Enrichment	ERBB2	1.24
57	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	LIG3	1.19
58	Lynch syndrome 1	Enrichment	RAD51D	1.14
59	Leukemia, chronic lymphocytic	Enrichment	IKZF3	1.14
60	Ciliary dyskinesia, primary, 3	Enrichment	GAS2L2	1.14
61	Asthma	Enrichment	CCL11	1.10
62	Lung non-small cell carcinoma	Enrichment	ERBB2	1.10
63	Breast-ovarian cancer, familial 1	Enrichment	RAD51D	1.03
64	Neonatal adrenoleukodystrophy	Enrichment	PEX12	1.03
65	Renal cell carcinoma, nonpapillary	Enrichment	HNF1B	0.97
66	Peroxisome biogenesis disorder 1b	Enrichment	PEX12	0.97
67	Zellweger syndrome	Enrichment	PEX12	0.97
68	Breast cancer	Enrichment	RAD51D, TMEM132E	0.97
69	Creatine phosphokinase, elevated serum	Enrichment	TCAP	0.95
70	Isolated elevated serum creatine phosphokinase levels	Enrichment	TCAP	0.95
71	Early infantile developmental and epileptic encephalopathy	Enrichment	NEUROD2	0.90
72	Early-onset nuclear cataract	Enrichment	UNC45B	0.90
73	Colorectal cancer	Enrichment	ERBB2, RAD51D	0.86
74	Maturity-onset diabetes of the young	Enrichment	HNF1B	0.86
75	Cardiomyopathy, dilated, 1a	Enrichment	UNC45B	0.84
76	Congenital stationary night blindness	Enrichment	GPR179	0.80
77	Bladder cancer	Enrichment	ERBB2	0.71
78	Hirschsprung disease 1	Enrichment	ERBB2	0.71
79	Lung cancer	Enrichment	ERBB2	0.67
80	Familial hypertrophic cardiomyopathy	Enrichment	TCAP	0.66
81	Cakut	Enrichment	HNF1B	0.65
82	Myopathy	Enrichment	UNC45B	0.59
83	Type 2 diabetes mellitus	Enrichment	HNF1B	0.57
84	Hypertrophic cardiomyopathy	Enrichment	TCAP	0.56
85	Optic atrophy plus syndrome	Enrichment	GPR179	0.55
86	Thrombocytopenia	Enrichment	SLFN14	0.52
87	Familial isolated dilated cardiomyopathy	Enrichment	TCAP	0.48
88	Hereditary breast ovarian cancer syndrome	Enrichment	RAD51D	0.47
89	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	TAF15	0.45
90	Primary ciliary dyskinesia	Enrichment	GAS2L2	0.36
91	Dilated cardiomyopathy	Enrichment	TCAP	0.35
92	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	TMEM132E	0.31
93	Inherited cancer-predisposing syndrome	Enrichment	RAD51D	0.20
94	Hereditary retinal dystrophy	Enrichment	GPR179	0.05
95	Fundus dystrophy	Enrichment	GPR179	0.05

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

17q12 copy number variation syndrome

Pathway Network for 17q12 copy number variation syndrome

Member Pathways for 17q12 copy number variation syndrome

Pathways in the 17q12 copy number variation syndrome SuperPath

Associated Genes for 17q12 copy number variation syndrome

Associated Disorders for 17q12 copy number variation syndrome

Disorders associated with 17q12 copy number variation syndrome SuperPath

STRING Interaction Network for 17q12 copy number variation syndrome

Sources for 17q12 copy number variation syndrome