Smith-Magenis and Potocki-Lupski syndrome copy number variation

No Pathway Network information available for Smith-Magenis and Potocki-Lupski syndrome copy number variation

Pathways in the Smith-Magenis and Potocki-Lupski syndrome copy number variation SuperPath

#	Name	Source	Genes
1	Smith-Magenis and Potocki-Lupski syndrome copy number variation	WikiPathways	ALKBH5 APBB1 APP ARG2 ARMC8 ATG101 ATG13 ATPAF2 BAX BCL2L11 BLM BMAL1 C9orf72 CARM1 CDK1 CFL2 CLEC16A CLOCK CLTA CLTB CLTC CLUAP1 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A COPS8 CRY1 CRY2 DENR DRC1 DRC10 DRC11 DRC2 DRC3 DRC4 DRC5 DRC7 DRC8 DRC9 DRG2 ETV5 FBXL13 FERD3L FHOD1 FLCN FLII FNIP1 FNIP2 FOXA1 FOXA2 G6PC1 GDI2 GID4 GPR85 GPS1 GRIP1 HBP1 HES6 IFT172 IFT20 IFT22 IFT25 IFT27 IFT46 IFT52 IFT56 IFT57 IFT70B IFT74 IFT80 IFT81 IFT88 IL1B IRF8 ITPK1 JUN LDHA LIMK1 LLGL1 MAEA MAP3K14 MED9 MIEF2 MIGA1 MIGA2 MIR33B MKLN1 MLST8 MPRIP MTOR MYC MYD88 MYH2 MYO15A MYO16 NFKB1 NR1H2 NR1H3 NT5M PARD3 PARD6B PCK1 PEMT PER1 PLD6 PPP1R12A PPP1R14A PRDM1 PRKAA1 PRKAB1 PRKAG2 PRKCI PRKN PTEN RAB10 RAB39B RAB8A RAI1 RANBP9 RASD1 RB1CC1 RELA RHOA RMI1 RMI2 RMND5A RNF41 ROCK1 RPTOR RRAGA SHMT1 SMCR2 SMCR5 SMCR8 SREBF1 STAT3 TFE3 TFEB TLR4 TNF TNFRSF13B TNFSF13 TOLLIP TOM1L2 TOP3A TP53 TRAF3IP1 ULK1 USP8 WDR26 WDR41 WWTR1 YAP1 (see all 156) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	DRC1	Dynein Regulatory Complex Subunit 1	Protein Coding	1
2	DRC2	Dynein Regulatory Complex Subunit 2	Protein Coding	1
3	DENR	Density Regulated Re-Initiation And Release Factor	Protein Coding	1
4	PARD6B	Par-6 Family Cell Polarity Regulator Beta	Protein Coding	1
5	GRIP1	Glutamate Receptor Interacting Protein 1	Protein Coding	1
6	GDI2	GDP Dissociation Inhibitor 2	Protein Coding	1
7	CFL2	Cofilin 2	Protein Coding	1
8	C9orf72	C9orf72-SMCR8 Complex Subunit	Protein Coding	1
9	RMND5A	Required For Meiotic Nuclear Division 5 Homolog A	Protein Coding	1
10	DRC9	Dynein Regulatory Complex Subunit 9	Protein Coding	1
11	FERD3L	Fer3 Like BHLH Transcription Factor	Protein Coding	1
12	IFT70B	Intraflagellar Transport 70B	Protein Coding	1
13	DRC10	Dynein Regulatory Complex Subunit 10	Protein Coding	1
14	DRC5	Dynein Regulatory Complex Subunit 5	Protein Coding	1
15	MYO16	Myosin XVI	Protein Coding	1
16	WDR41	WD Repeat Domain 41	Protein Coding	1
17	DRC7	Dynein Regulatory Complex Subunit 7	Protein Coding	1
18	FBXL13	F-Box And Leucine Rich Repeat Protein 13	Protein Coding	1
19	DRC8	Dynein Regulatory Complex Subunit 8	Protein Coding	1
20	FNIP2	Folliculin Interacting Protein 2	Protein Coding	1
21	FHOD1	Formin Homology 2 Domain Containing 1	Protein Coding	1
22	TFEB	Transcription Factor EB	Protein Coding	1
23	DRC11	Dynein Regulatory Complex Subunit 11	Protein Coding	1
24	CLEC16A	C-Type Lectin Domain Containing 16A	Protein Coding	1
25	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	1
26	MYH2	Myosin Heavy Chain 2	Protein Coding	1
27	GPR85	G Protein-Coupled Receptor 85	Protein Coding	1
28	FNIP1	Folliculin Interacting Protein 1	Protein Coding	1
29	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	1
30	HES6	Hes Family BHLH Transcription Factor 6	Protein Coding	1
31	HBP1	HMG-Box Transcription Factor 1	Protein Coding	1
32	ETV5	ETS Variant Transcription Factor 5	Protein Coding	1
33	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	1
34	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	1
35	IRF8	Interferon Regulatory Factor 8	Protein Coding	1
36	CLTB	Clathrin Light Chain B	Protein Coding	1
37	CRY2	Cryptochrome Circadian Regulator 2	Protein Coding	1
38	COPS7A	COP9 Signalosome Subunit 7A	Protein Coding	1
39	PER1	Period Circadian Regulator 1	Protein Coding	1
40	CRY1	Cryptochrome Circadian Regulator 1	Protein Coding	1
41	NR1H3	Nuclear Receptor Subfamily 1 Group H Member 3	Protein Coding	1
42	TNFSF13	TNF Superfamily Member 13	Protein Coding	1
43	TOLLIP	Toll Interacting Protein	Protein Coding	1
44	IL1B	Interleukin 1 Beta	Protein Coding	1
45	TLR4	Toll Like Receptor 4	Protein Coding	1
46	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	1
47	PRDM1	PR/SET Domain 1	Protein Coding	1
48	NR1H2	Nuclear Receptor Subfamily 1 Group H Member 2	Protein Coding	1
49	ATG13	Autophagy Related 13	Protein Coding	1
50	ATG101	Autophagy Related 101	Protein Coding	1
51	RB1CC1	RB1 Inducible Coiled-Coil 1	Protein Coding	1
52	MYD88	MYD88 Innate Immune Signal Transduction Adaptor	Protein Coding	1
53	BCL2L11	BCL2 Like 11	Protein Coding	1
54	RRAGA	Ras Related GTP Binding A	Protein Coding	1
55	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	1
56	PPP1R14A	Protein Phosphatase 1 Regulatory Inhibitor Subunit 14A	Protein Coding	1
57	PPP1R12A	Protein Phosphatase 1 Regulatory Subunit 12A	Protein Coding	1
58	FOXA1	Forkhead Box A1	Protein Coding	1
59	CARM1	Coactivator Associated Arginine Methyltransferase 1	Protein Coding	1
60	DRC4	Dynein Regulatory Complex Subunit 4	Protein Coding	1
61	WWTR1	WW Domain Containing Transcription Regulator 1	Protein Coding	1
62	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	1
63	RNF41	Ring Finger Protein 41	Protein Coding	1
64	USP8	Ubiquitin Specific Peptidase 8	Protein Coding	1
65	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
66	RMI1	RecQ Mediated Genome Instability 1	Protein Coding	1
67	RMI2	RecQ Mediated Genome Instability 2	Protein Coding	1
68	APBB1	Amyloid Beta Precursor Protein Binding Family B Member 1	Protein Coding	1
69	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	1
70	ARG2	Arginase 2	Protein Coding	1
71	WDR26	WD Repeat Domain 26	Protein Coding	1
72	MAEA	Macrophage Erythroblast Attacher, E3 Ubiquitin Ligase	Protein Coding	1
73	MKLN1	Muskelin 1	Protein Coding	1
74	ARMC8	Armadillo Repeat Containing 8	Protein Coding	1
75	LDHA	Lactate Dehydrogenase A	Protein Coding	1
76	MIGA1	Mitoguardin 1	Protein Coding	1
77	MIGA2	Mitoguardin 2	Protein Coding	1
78	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1
79	CLOCK	Clock Circadian Regulator	Protein Coding	1
80	BMAL1	Basic Helix-Loop-Helix ARNT Like 1	Protein Coding	1
81	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
82	G6PC1	Glucose-6-Phosphatase Catalytic Subunit 1	Protein Coding	1
83	BLM	BLM RecQ Like Helicase	Protein Coding	1
84	ITPK1	Inositol-Tetrakisphosphate 1-Kinase	Protein Coding	1
85	PARD3	Par-3 Family Cell Polarity Regulator	Protein Coding	1
86	PRKCI	Protein Kinase C Iota	Protein Coding	1
87	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
88	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
89	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
90	TNF	Tumor Necrosis Factor	Protein Coding	1
91	FOXA2	Forkhead Box A2	Protein Coding	1
92	RANBP9	RAN Binding Protein 9	Protein Coding	1
93	LIMK1	LIM Domain Kinase 1	Protein Coding	1
94	RHOA	Ras Homolog Family Member A	Protein Coding	1
95	IFT22	Intraflagellar Transport 22	Protein Coding	1
96	IFT172	Intraflagellar Transport 172	Protein Coding	1
97	IFT88	Intraflagellar Transport 88	Protein Coding	1
98	IFT52	Intraflagellar Transport 52	Protein Coding	1
99	IFT80	Intraflagellar Transport 80	Protein Coding	1
100	IFT27	Intraflagellar Transport 27	Protein Coding	1
101	IFT81	Intraflagellar Transport 81	Protein Coding	1
102	IFT25	Intraflagellar Transport 25	Protein Coding	1
103	IFT46	Intraflagellar Transport 46	Protein Coding	1
104	IFT74	Intraflagellar Transport 74	Protein Coding	1
105	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	1
106	IFT20	Intraflagellar Transport 20	Protein Coding	1
107	IFT56	Intraflagellar Transport 56	Protein Coding	1
108	CLUAP1	Clusterin Associated Protein 1	Protein Coding	1
109	IFT57	Intraflagellar Transport 57	Protein Coding	1
110	CDK1	Cyclin Dependent Kinase 1	Protein Coding	1
111	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
112	RAB10	RAB10, Member RAS Oncogene Family	Protein Coding	1
113	COPS2	COP9 Signalosome Subunit 2	Protein Coding	1
114	COPS6	COP9 Signalosome Subunit 6	Protein Coding	1
115	GPS1	G Protein Pathway Suppressor 1	Protein Coding	1
116	COPS4	COP9 Signalosome Subunit 4	Protein Coding	1
117	COPS5	COP9 Signalosome Subunit 5	Protein Coding	1
118	COPS8	COP9 Signalosome Subunit 8	Protein Coding	1
119	APP	Amyloid Beta Precursor Protein	Protein Coding	1
120	ULK1	Unc-51 Like Autophagy Activating Kinase 1	Protein Coding	1
121	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	1
122	CLTA	Clathrin Light Chain A	Protein Coding	1
123	CLTC	Clathrin Heavy Chain	Protein Coding	1
124	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
125	PCK1	Phosphoenolpyruvate Carboxykinase 1	Protein Coding	1
126	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
127	TP53	Tumor Protein P53	Protein Coding	1
128	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
129	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	1
130	NT5M	5'',3''-Nucleotidase, Mitochondrial	Protein Coding	1
131	DRG2	Developmentally Regulated GTP Binding Protein 2	Protein Coding	1
132	ATPAF2	ATP Synthase Mitochondrial F1 Complex Assembly Factor 2	Protein Coding	1
133	COPS3	COP9 Signalosome Subunit 3	Protein Coding	1
134	MIR33B	MicroRNA 33b	RNA Gene	1
135	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	1
136	SHMT1	Serine Hydroxymethyltransferase 1	Protein Coding	1
137	ALKBH5	AlkB Homolog 5, RNA Demethylase	Protein Coding	1
138	RASD1	Ras Related Dexamethasone Induced 1	Protein Coding	1
139	MYO15A	Myosin XVA	Protein Coding	1
140	LLGL1	LLGL Scribble Cell Polarity Complex Component 1	Protein Coding	1
141	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	1
142	MPRIP	Myosin Phosphatase Rho Interacting Protein	Protein Coding	1
143	FLCN	Folliculin	Protein Coding	1
144	RAI1	Retinoic Acid Induced 1	Protein Coding	1
145	PEMT	Phosphatidylethanolamine N-Methyltransferase	Protein Coding	1
146	TOM1L2	Target Of Myb1 Like 2 Membrane Trafficking Protein	Protein Coding	1
147	SMCR8	SMCR8-C9orf72 Complex Subunit	Protein Coding	1
148	SMCR5	Smith-Magenis Syndrome Chromosome Region, Candidate 5	RNA Gene	1
149	MIEF2	Mitochondrial Elongation Factor 2	Protein Coding	1
150	SMCR2	Smith-Magenis Syndrome Chromosome Region, Candidate 2	RNA Gene	1
151	DRC3	Dynein Regulatory Complex Subunit 3	Protein Coding	1
152	GID4	GID Complex Subunit 4 Homolog	Protein Coding	1
153	TOP3A	DNA Topoisomerase III Alpha	Protein Coding	1
154	MED9	Mediator Complex Subunit 9	Protein Coding	1
155	FLII	FLII Actin Remodeling Protein	Protein Coding	1
156	PLD6	Phospholipase D Family Member 6	Protein Coding	1

Disorders associated with Smith-Magenis and Potocki-Lupski syndrome copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	IFT172, IFT27, IFT74, IFT80, IFT81, TRAF3IP1	5.74
2	Malignant epithelioid hemangioendothelioma	Enrichment	TFE3, WWTR1, YAP1	5.23
3	Jeune thoracic dystrophy	Enrichment	IFT27, IFT74, IFT80, IFT81, TRAF3IP1	5.08
4	Asphyxiating thoracic dystrophy	Enrichment	IFT27, IFT74, IFT80, IFT81, TRAF3IP1	4.82
5	Renal cell carcinoma with mit translocations	Enrichment	CLTC, TFE3, TFEB	4.30
6	Diffuse large b-cell lymphoma	Enrichment	MYD88, PTEN, STAT3, TP53	4.24
7	Bardet-biedl syndrome 22	Enrichment	IFT172, IFT74	3.88
8	Microcephaly, growth restriction, and increased sister chromatid exchange 2	Enrichment	RMI2, TOP3A	3.88
9	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	IFT172, IFT80, TRAF3IP1	3.52
10	Potocki-lupski syndrome	Enrichment	FLCN, RAI1	3.41
11	Smith-magenis syndrome	Enrichment	FLII, RAI1	2.89
12	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	2.89
13	Hemimegalencephaly	Enrichment	MTOR, PTEN	2.89
14	Hereditary breast carcinoma	Enrichment	BLM, PTEN, RB1CC1, TP53	2.80
15	Breast cancer	Enrichment	BLM, JUN, PTEN, RB1CC1, TP53	2.77
16	Breast adenocarcinoma	Enrichment	RB1CC1, TP53	2.72
17	Short rib-polydactyly syndrome	Enrichment	IFT52, IFT81	2.72
18	Squamous cell carcinoma, head and neck	Enrichment	PTEN, TP53	2.58
19	Common variable immunodeficiency	Enrichment	NFKB1, TNFRSF13B	2.58
20	Colorectal cancer	Enrichment	BAX, BLM, FLCN, RMI1, TP53	2.49
21	Primary hyperaldosteronism	Enrichment	TP53, USP8	2.35
22	Ovarian cancer	Enrichment	BLM, FLCN, PRKN, PTEN, TP53	2.21
23	Alzheimer's disease	Enrichment	APP, TNF	2.03
24	Lung cancer susceptibility 3	Enrichment	PRKN, TP53	1.96
25	Immune deficiency, familial variable	Enrichment	TNFRSF13B	1.94
26	Pneumothorax, primary spontaneous	Enrichment	FLCN	1.94
27	Bloom syndrome	Enrichment	BLM	1.94
28	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Enrichment	PCK1	1.94
29	Vacterl association with hydrocephalus	Enrichment	PTEN	1.94
30	Waisman syndrome	Enrichment	RAB39B	1.94
31	Immunodeficiency 68	Enrichment	MYD88	1.94
32	Macroglobulinemia, waldenstrom 1	Enrichment	MYD88	1.94
33	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	1.94
34	Ciliary dyskinesia, primary, 27	Enrichment	DRC2	1.94
35	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	1.94
36	Leprosy 2	Enrichment	PRKN	1.94
37	Ciliary dyskinesia, primary, 33	Enrichment	DRC4	1.94
38	Immunodeficiency 32a	Enrichment	IRF8	1.94
39	Orofaciodigital syndrome xviii	Enrichment	IFT57	1.94
40	Cardiomyopathy, dilated, 2j	Enrichment	FLII	1.94
41	Bone marrow failure syndrome 5	Enrichment	TP53	1.94
42	Renal cell carcinoma, xp11-associated	Enrichment	TFE3	1.94
43	Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies	Enrichment	TFE3	1.94
44	Birt-hogg-dube syndrome	Enrichment	FLCN	1.94
45	Papilloma of choroid plexus	Enrichment	TP53	1.94
46	Basal cell carcinoma 7	Enrichment	TP53	1.94
47	Intellectual developmental disorder, x-linked 72	Enrichment	RAB39B	1.94
48	Anaplastic thyroid carcinoma	Enrichment	TP53	1.94
49	Ifap syndrome 2	Enrichment	SREBF1	1.94
50	Cardiomyopathy, familial hypertrophic, 6	Enrichment	PRKAG2	1.94
51	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	1.94
52	Biliary, renal, neurologic, and skeletal syndrome	Enrichment	IFT56	1.94
53	Papillary tumor of the pineal region	Enrichment	PTEN	1.94
54	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	1.94
55	Glycogen storage disease of heart, lethal congenital	Enrichment	PRKAG2	1.94
56	Nemaline myopathy 7	Enrichment	CFL2	1.94
57	Immunoglobulin a deficiency 2	Enrichment	TNFRSF13B	1.94
58	Cerebral amyloid angiopathy, app-related	Enrichment	APP	1.94
59	Ciliary dyskinesia, primary, 21	Enrichment	DRC1	1.94
60	Macular degeneration, age-related, 10	Enrichment	TLR4	1.94
61	Delayed sleep phase disorder	Enrichment	CRY1	1.94
62	Glioma susceptibility 2	Enrichment	PTEN	1.94
63	Ductal carcinoma in situ	Enrichment	TP53	1.94
64	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	1.94
65	Senior-loken syndrome 9	Enrichment	TRAF3IP1	1.94
66	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.94
67	Short-rib thoracic dysplasia 16 with or without polydactyly	Enrichment	IFT52	1.94
68	Fraser syndrome 3	Enrichment	GRIP1	1.94
69	Short-rib thoracic dysplasia 19 with or without polydactyly	Enrichment	IFT81	1.94
70	Joubert syndrome 40	Enrichment	IFT74	1.94
71	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.94
72	Spermatogenic failure 58	Enrichment	IFT74	1.94
73	Combined oxidative phosphorylation deficiency 49	Enrichment	MIEF2	1.94
74	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5	Enrichment	TOP3A	1.94
75	Spermatogenic failure 80	Enrichment	DRC1	1.94
76	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	1.94
77	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	1.94
78	Autosomal recessive spastic paraplegia type 59	Enrichment	USP8	1.94
79	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	1.94
80	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	1.94
81	Immunodeficiency 112	Enrichment	MAP3K14	1.94
82	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	1.94
83	Huntington disease-like syndrome due to c9orf72 expansions	Enrichment	C9orf72	1.94
84	Choroid plexus cancer	Enrichment	TP53	1.94
85	Waldenstram macroglobulinemia	Enrichment	MYD88	1.94
86	Common variable immunodeficiency phenotype due to homozygous taci deficiency	Enrichment	TNFRSF13B	1.94
87	Familial spontaneous pneumothorax	Enrichment	FLCN	1.94
88	Pleomorphic xanthoastrocytoma	Enrichment	TP53	1.94
89	Immunodeficiency 93 and hypertrophic cardiomyopathy	Enrichment	FNIP1	1.94
90	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.94
91	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	1.94
92	Nik deficiency	Enrichment	MAP3K14	1.94
93	Bardet-biedl syndrome	Enrichment	IFT172, IFT27, IFT74	1.91
94	Renal cell carcinoma, nonpapillary	Enrichment	FLCN, MTOR	1.90
95	Gastric cancer	Enrichment	IL1B, PTEN, TP53	1.88
96	Rhabdomyosarcoma	Enrichment	PTEN, TP53	1.85
97	Birt-hogg-dube syndrome 1	Enrichment	FLCN	1.64
98	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	1.64
99	Burkitt lymphoma	Enrichment	MYC	1.64
100	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	MAEA	1.64
101	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.64
102	Fanconi-bickel syndrome	Enrichment	LDHA	1.64
103	Immunodeficiency 32b	Enrichment	IRF8	1.64
104	Pituitary adenoma 4, acth-secreting	Enrichment	USP8	1.64
105	Immunodeficiency, common variable, 2	Enrichment	TNFRSF13B	1.64
106	Cervical cancer	Enrichment	TP53	1.64
107	Parkinson disease 12	Enrichment	PRKN	1.64
108	Alveolar soft part sarcoma	Enrichment	TFE3	1.64
109	Short-rib thoracic dysplasia 2 with or without polydactyly	Enrichment	IFT80	1.64
110	Immunodeficiency with hyper-igm, type 2	Enrichment	TNFRSF13B	1.64
111	Diamond-blackfan anemia 5	Enrichment	DRC9	1.64
112	Yuan-harel-lupski syndrome	Enrichment	RAI1	1.64
113	Lymphoma, hodgkin, classic	Enrichment	TP53	1.64
114	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.64
115	Genitourinary and/or brain malformation syndrome	Enrichment	PPP1R12A	1.64
116	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	1.64
117	Cebalid syndrome	Enrichment	MTOR	1.64
118	Immunodeficiency 127	Enrichment	TNF	1.64
119	Rela fusion-positive ependymoma	Enrichment	RELA	1.64
120	Skraban-deardorff syndrome	Enrichment	WDR26	1.64
121	Congenital fibrosarcoma	Enrichment	TP53	1.64
122	Li-fraumeni syndrome 1	Enrichment	TP53	1.64
123	Sarcoma	Enrichment	TP53	1.64
124	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Enrichment	MYH2	1.64
125	Cervix carcinoma	Enrichment	TP53	1.64
126	Hodgkin's lymphoma	Enrichment	TP53	1.64
127	Smith-kingsmore syndrome	Enrichment	MTOR	1.64
128	Vacterl with hydrocephalus	Enrichment	PTEN	1.64
129	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Enrichment	MYH2	1.64
130	Transient predisposition to invasive pyogenic bacterial infection	Enrichment	MYD88	1.64
131	Common variable immunodeficiency 12	Enrichment	NFKB1	1.64
132	Juvenile polyposis of infancy	Enrichment	PTEN	1.64
133	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.64
134	Endometrial cancer	Enrichment	BLM, PTEN	1.62
135	Hereditary breast ovarian cancer syndrome	Enrichment	BLM, PTEN, TP53	1.60
136	Diamond-blackfan anemia 1	Enrichment	DRC9, TP53	1.55
137	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.47
138	Niemann-pick disease, type a	Enrichment	APBB1	1.47
139	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	SREBF1	1.47
140	Deafness, autosomal recessive 3	Enrichment	MYO15A	1.47
141	Caroli disease, isolated	Enrichment	IFT56	1.47
142	Osteogenic sarcoma	Enrichment	TP53	1.47
143	Psoriatic arthritis	Enrichment	TNF	1.47
144	Niemann-pick disease, type b	Enrichment	APBB1	1.47
145	Nasopharyngeal carcinoma	Enrichment	TP53	1.47
146	Bardet-biedl syndrome 19	Enrichment	IFT27	1.47
147	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	1.47
148	Caroli disease	Enrichment	IFT56	1.47
149	Breast implant-associated anaplastic large cell lymphoma	Enrichment	STAT3	1.47
150	Hyper ige syndrome	Enrichment	STAT3	1.47
151	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.47
152	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.47
153	Anaplastic astrocytoma	Enrichment	TP53	1.47
154	Mitochondrial complex v deficiency, nuclear type 1	Enrichment	ATPAF2	1.47
155	Chromophobe renal cell carcinoma	Enrichment	FLCN	1.47
156	Squamous cell carcinoma	Enrichment	TP53	1.47
157	T-cell acute lymphoblastic leukemia	Enrichment	BAX	1.47
158	Adenocarcinoma	Enrichment	TP53	1.47
159	Migraine without aura	Enrichment	TNF	1.47
160	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.47
161	Bone osteosarcoma	Enrichment	TP53	1.47
162	Phosphoenolpyruvate carboxykinase deficiency	Enrichment	PCK1	1.47
163	Renal cell carcinoma	Enrichment	TFE3	1.47
164	Bladder cancer	Enrichment	PTEN, TP53	1.36
165	Prostate cancer	Enrichment	PTEN, TP53	1.36
166	Small cell cancer of the lung	Enrichment	TP53	1.34
167	Glycogen storage disease ia	Enrichment	G6PC1	1.34
168	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.34
169	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.34
170	Immunodeficiency, common variable, 1	Enrichment	TNFRSF13B	1.34
171	Congenital myopathy 6 with ophthalmoplegia	Enrichment	MYH2	1.34
172	Short-rib thoracic dysplasia 10 with or without polydactyly	Enrichment	IFT172	1.34
173	Retinitis pigmentosa 71	Enrichment	IFT172	1.34
174	Bardet-biedl syndrome 20	Enrichment	IFT172	1.34
175	Lung sarcomatoid carcinoma	Enrichment	TP53	1.34
176	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	1.34
177	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.34
178	Pilocytic astrocytoma	Enrichment	FLCN	1.34
179	Cerebral malaria	Enrichment	TNF	1.34
180	Complex hereditary spastic paraplegia	Enrichment	PRKN	1.34
181	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.34
182	Glioma	Enrichment	PTEN	1.34
183	Pseudomyogenic hemangioendothelioma	Enrichment	WWTR1	1.34
184	Niemann-pick disease, type c1	Enrichment	APBB1	1.25
185	Deafness, autosomal recessive 9	Enrichment	MYO15A	1.25
186	Short-rib thoracic dysplasia 9 with or without polydactyly	Enrichment	IFT172	1.25
187	Parkinson disease 2, autosomal recessive juvenile	Enrichment	PRKN	1.25
188	Rhabdomyosarcoma 2	Enrichment	TP53	1.25
189	Macrocephaly/autism syndrome	Enrichment	PTEN	1.25
190	Lymphoma	Enrichment	TP53	1.25
191	Niemann-pick disease	Enrichment	APBB1	1.25
192	Hemangioma	Enrichment	PTEN	1.25
193	Hypoglycemia	Enrichment	G6PC1	1.25
194	Otof-related hearing loss	Enrichment	MYO15A	1.25
195	Parkin type of early-onset parkinson disease	Enrichment	PRKN	1.25
196	Vascular dementia	Enrichment	TNF	1.25
197	Short rib-polydactyly syndrome, verma-naumoff type	Enrichment	IFT80	1.25
198	Primary ciliary dyskinesia	Enrichment	DRC1, DRC2, DRC4	1.24
199	Diamond-blackfan anemia	Enrichment	DRC9, TP53	1.19
200	Inherited cancer-predisposing syndrome	Enrichment	BLM, FLCN, PTEN, TP53	1.18
201	Li-fraumeni syndrome	Enrichment	TP53	1.17
202	Cowden syndrome 1	Enrichment	PTEN	1.17
203	Fraser syndrome 1	Enrichment	GRIP1	1.17
204	Hemihyperplasia, isolated	Enrichment	RHOA	1.17
205	Ciliary dyskinesia, primary, 1	Enrichment	DRC1	1.17
206	Inflammatory myofibroblastic tumor	Enrichment	CLTC	1.17
207	Kartagener syndrome	Enrichment	DRC1	1.17
208	Adrenocortical carcinoma	Enrichment	TP53	1.17
209	Typical nemaline myopathy	Enrichment	CFL2	1.17
210	Esophageal cancer	Enrichment	TP53	1.11
211	Thyroid cancer, nonmedullary, 2	Enrichment	PTEN	1.11
212	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.11
213	Noonan syndrome 3	Enrichment	CLTC	1.11
214	Semantic dementia	Enrichment	C9orf72	1.11
215	Cranioectodermal dysplasia	Enrichment	IFT52	1.11
216	Alzheimer's disease 1	Enrichment	APP	1.11
217	Essential thrombocythemia	Enrichment	TP53	1.11
218	Gallbladder cancer	Enrichment	TP53	1.11
219	Follicular thyroid carcinoma	Enrichment	PTEN	1.11
220	Overgrowth syndrome	Enrichment	MTOR	1.11
221	Early-onset autosomal dominant alzheimer disease	Enrichment	APP	1.11
222	Hereditary clear cell renal cell carcinoma	Enrichment	FLCN	1.11
223	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.11
224	Glioma susceptibility 1	Enrichment	TP53	1.05
225	Spermatogenic failure 5	Enrichment	IFT74	1.05
226	Short-rib thoracic dysplasia 12	Enrichment	IFT80	1.05
227	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.05
228	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.05
229	Isolated atp synthase deficiency	Enrichment	ATPAF2	1.05
230	Combined pituitary hormone deficiency	Enrichment	FOXA2	1.05
231	Adult hepatocellular carcinoma	Enrichment	TP53	1.00
232	Progressive non-fluent aphasia	Enrichment	C9orf72	1.00
233	Cowden syndrome	Enrichment	PTEN	1.00
234	Behavioral variant of frontotemporal dementia	Enrichment	C9orf72	1.00
235	Leukemia, chronic lymphocytic	Enrichment	TP53	0.96
236	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	C9orf72	0.96
237	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.96
238	Melanoma	Enrichment	PTEN	0.96
239	Familial colorectal cancer	Enrichment	TP53	0.96
240	Joubert syndrome 1	Enrichment	CLUAP1, IFT172	0.95
241	Asthma	Enrichment	TNF	0.92
242	Meningioma, familial	Enrichment	PTEN	0.92
243	Myelodysplastic syndrome	Enrichment	TP53	0.92
244	Glycogen storage disease	Enrichment	G6PC1	0.92
245	Uterine corpus cancer	Enrichment	PTEN	0.92
246	Early-onset parkinson's disease	Enrichment	PRKN	0.89
247	Meningioma	Enrichment	PTEN	0.89
248	Lip and oral cavity carcinoma	Enrichment	TP53	0.89
249	Myeloma, multiple	Enrichment	TP53, YAP1	0.87
250	Undetermined early-onset epileptic encephalopathy	Enrichment	CLTC, LIMK1	0.87
251	Microphthalmia/coloboma 12	Enrichment	YAP1	0.85
252	Neural tube defects	Enrichment	PARD3	0.85
253	Senior-loken syndrome 1	Enrichment	TRAF3IP1	0.85
254	Acute promyelocytic leukemia	Enrichment	STAT3	0.85
255	Multiple sclerosis	Enrichment	NR1H3	0.83
256	Coloboma of macula	Enrichment	YAP1	0.80
257	Hydrocephalus	Enrichment	IFT56	0.80
258	Rare genetic intellectual disability	Enrichment	MTOR	0.80
259	Wolff-parkinson-white syndrome	Enrichment	PRKAG2	0.77
260	Gliosarcoma	Enrichment	TP53	0.77
261	Alzheimer disease, familial, 1	Enrichment	APP	0.75
262	Syndromic intellectual disability	Enrichment	RAI1	0.75
263	Giant cell glioblastoma	Enrichment	TP53	0.75
264	Behcet syndrome	Enrichment	TLR4	0.70
265	Esophageal atresia/tracheoesophageal fistula	Enrichment	IRF8	0.70
266	Parkinson's disease	Enrichment	PRKN	0.70
267	Williams-beuren syndrome	Enrichment	LIMK1	0.68
268	Centronuclear myopathy	Enrichment	CFL2	0.67
269	Hepatoblastoma	Enrichment	TP53	0.67
270	Hepatocellular carcinoma	Enrichment	TP53	0.65
271	Malaria	Enrichment	TNF	0.63
272	Non-syndromic male infertility due to sperm motility disorder	Enrichment	DRC1	0.63
273	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	0.63
274	Ear malformation	Enrichment	MYO15A	0.62
275	Parkinson disease, late-onset	Enrichment	PRKN	0.62
276	Pancreatic cancer	Enrichment	TP53	0.60
277	Hirschsprung disease 1	Enrichment	SREBF1	0.54
278	Isolated joubert syndrome	Enrichment	IFT74	0.53
279	Lung cancer	Enrichment	PRKN	0.51
280	Familial hypertrophic cardiomyopathy	Enrichment	PRKAG2	0.50
281	Male infertility	Enrichment	PLD6	0.49
282	Non-syndromic x-linked intellectual disability	Enrichment	RAB39B	0.47
283	Non-syndromic genetic deafness	Enrichment	MYO15A	0.47
284	Autism spectrum disorder	Enrichment	PRKN, PTEN	0.45
285	Systemic lupus erythematosus	Enrichment	TNF	0.44
286	Leukemia, acute myeloid	Enrichment	TP53	0.43
287	Myopathy	Enrichment	MYH2	0.43
288	Nonsyndromic hearing loss	Enrichment	MYO15A	0.41
289	Hypertrophic cardiomyopathy	Enrichment	PRKAG2	0.41
290	Sensorineural hearing loss	Enrichment	MYO15A	0.37
291	Autosomal dominant non-syndromic intellectual disability	Enrichment	CLTC	0.36
292	Retinitis pigmentosa	Enrichment	IFT172, IFT81, IFT88	0.35
293	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	C9orf72	0.31
294	Schizophrenia	Enrichment	PRKN	0.31
295	Deafness, autosomal recessive	Enrichment	MYO15A	0.29
296	Autosomal recessive nonsyndromic deafness	Enrichment	MYO15A	0.28
297	Cone-rod dystrophy 2	Enrichment	IFT81	0.26
298	Autism	Enrichment	PRKN	0.25
299	Rare genetic deafness	Enrichment	MYO15A	0.22
300	Dilated cardiomyopathy	Enrichment	FLII	0.22
301	Mitochondrial disease	Enrichment	TOP3A	0.20
302	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	MYO15A	0.19
303	Leber plus disease	Enrichment	CLUAP1	0.18
304	Congenital nervous system abnormality	Enrichment	PTEN	0.15
305	Nervous system disease	Enrichment	PTEN	0.15
306	Hereditary retinal dystrophy	Enrichment	IFT172, IFT81	0.07
307	Fundus dystrophy	Enrichment	IFT172, IFT81	0.07

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

Smith-Magenis and Potocki-Lupski syndrome copy number variation

Pathway Network for Smith-Magenis and Potocki-Lupski syndrome copy number variation

Member Pathways for Smith-Magenis and Potocki-Lupski syndrome copy number variation

Pathways in the Smith-Magenis and Potocki-Lupski syndrome copy number variation SuperPath

Associated Genes for Smith-Magenis and Potocki-Lupski syndrome copy number variation

Associated Disorders for Smith-Magenis and Potocki-Lupski syndrome copy number variation

Disorders associated with Smith-Magenis and Potocki-Lupski syndrome copy number variation SuperPath

STRING Interaction Network for Smith-Magenis and Potocki-Lupski syndrome copy number variation

Sources for Smith-Magenis and Potocki-Lupski syndrome copy number variation