2q37 copy number variation syndrome

No Pathway Network information available for 2q37 copy number variation syndrome

Pathways in the 2q37 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	2q37 copy number variation syndrome	WikiPathways	ACKR3 AGAP1 AGAP1-IT1 AGXT ANKMY1 ANO7 AQP12A AQP12B ARL4C ASB1 ASB18 ATG4B BOK CALCRL CAPN10 CAPN10-DT COL6A3 COPS8 COPS9 D2HGDH DGKD DNAJB3 DRC11 DTYMK DUSP28 ERFE ESPNL FARP2 GAL3ST2 GBX2 GPC1 GPR35 HDAC4 HDLBP HES6 HJURP ILKAP ING5 KIF1A KLHL30 LOC100419016 LRRFIP1 MAB21L4 MIR149 MIR4440 MIR4786 MLPH MROH2A MTERF4 NDUFA10 NEU4 OR6B2 OR6B3 OTOS PASK PDCD1 PER2 PPP1R7 PRLH RAB17 RAMP1 RBM44 RNPEPL1 RNU6-1051P RPL17P11 RTP5 SCLY SEPTIN2 SH3BP4 SNED1 SPP2 STK25 THAP4 TRAF3IP1 TRPM8 TWIST2 UBE2F UGT1A1 UGT1A10 UGT1A11P UGT1A12P UGT1A13P UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 USP40 (see all 88) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	GAL3ST2	Galactose-3-O-Sulfotransferase 2	Protein Coding	1
2	UGT1A7	UDP Glucuronosyltransferase Family 1 Member A7	Protein Coding	1
3	GPC1	Glypican 1	Protein Coding	1
4	NEU4	Neuraminidase 4	Protein Coding	1
5	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	Protein Coding	1
6	HDAC4	Histone Deacetylase 4	Protein Coding	1
7	LRRFIP1	LRR Binding FLII Interacting Protein 1	Protein Coding	1
8	PER2	Period Circadian Regulator 2	Protein Coding	1
9	DGKD	Diacylglycerol Kinase Delta	Protein Coding	1
10	MLPH	Melanophilin	Protein Coding	1
11	TRPM8	Transient Receptor Potential Cation Channel Subfamily M Member 8	Protein Coding	1
12	D2HGDH	D-2-Hydroxyglutarate Dehydrogenase	Protein Coding	1
13	ACKR3	Atypical Chemokine Receptor 3	Protein Coding	1
14	HJURP	Holliday Junction Recognition Protein	Protein Coding	1
15	KIF1A	Kinesin Family Member 1A	Protein Coding	1
16	UGT1A1	UDP Glucuronosyltransferase Family 1 Member A1	Protein Coding	1
17	UGT1A4	UDP Glucuronosyltransferase Family 1 Member A4	Protein Coding	1
18	UGT1A9	UDP Glucuronosyltransferase Family 1 Member A9	Protein Coding	1
19	UGT1A6	UDP Glucuronosyltransferase Family 1 Member A6	Protein Coding	1
20	UGT1A8	UDP Glucuronosyltransferase Family 1 Member A8	Protein Coding	1
21	UGT1A10	UDP Glucuronosyltransferase Family 1 Member A10	Protein Coding	1
22	PDCD1	Programmed Cell Death 1	Protein Coding	1
23	SEPTIN2	Septin 2	Protein Coding	1
24	MIR149	MicroRNA 149	RNA Gene	1
25	HDLBP	High Density Lipoprotein Binding Protein	Protein Coding	1
26	DUSP28	Dual Specificity Phosphatase 28	Protein Coding	1
27	GBX2	Gastrulation Brain Homeobox 2	Protein Coding	1
28	SH3BP4	SH3 Domain Binding Protein 4	Protein Coding	1
29	PASK	PAS Domain Containing Serine/Threonine Kinase	Protein Coding	1
30	AGXT	Alanine--Glyoxylate Aminotransferase	Protein Coding	1
31	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	1
32	TWIST2	Twist Family BHLH Transcription Factor 2	Protein Coding	1
33	AGAP1	ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 1	Protein Coding	1
34	CAPN10	Calpain 10	Protein Coding	1
35	RAMP1	Receptor Activity Modifying Protein 1	Protein Coding	1
36	CALCRL	Calcitonin Receptor Like Receptor	Protein Coding	1
37	DTYMK	Deoxythymidylate Kinase	Protein Coding	1
38	ERFE	Erythroferrone	Protein Coding	1
39	OR6B3	Olfactory Receptor Family 6 Subfamily B Member 3	Protein Coding	1
40	COPS9	COP9 Signalosome Subunit 9	Protein Coding	1
41	OTOS	Otospiralin	Protein Coding	1
42	ING5	Inhibitor Of Growth Family Member 5	Protein Coding	1
43	UBE2F	Ubiquitin Conjugating Enzyme E2 F (Putative)	Protein Coding	1
44	MTERF4	Mitochondrial Transcription Termination Factor 4	Protein Coding	1
45	COPS8	COP9 Signalosome Subunit 8	Protein Coding	1
46	RNU6-1051P	RNA, U6 Small Nuclear 1051, Pseudogene	Pseudogene	1
47	STK25	Serine/Threonine Kinase 25	Protein Coding	1
48	CAPN10-DT	CAPN10 Divergent Transcript	RNA Gene	1
49	ARL4C	ARF Like GTPase 4C	Protein Coding	1
50	ILKAP	ILK Associated Serine/Threonine Phosphatase	Protein Coding	1
51	MAB21L4	Mab-21 Like 4	Protein Coding	1
52	DRC11	Dynein Regulatory Complex Subunit 11	Protein Coding	1
53	SPP2	Secreted Phosphoprotein 2	Protein Coding	1
54	BOK	BCL2 Family Apoptosis Regulator BOK	Protein Coding	1
55	AQP12B	Aquaporin 12B	Protein Coding	1
56	RAB17	RAB17, Member RAS Oncogene Family	Protein Coding	1
57	RNPEPL1	Arginyl Aminopeptidase Like 1	Protein Coding	1
58	HES6	Hes Family BHLH Transcription Factor 6	Protein Coding	1
59	USP40	Ubiquitin Specific Peptidase 40	Protein Coding	1
60	PPP1R7	Protein Phosphatase 1 Regulatory Subunit 7	Protein Coding	1
61	UGT1A11P	UDP Glucuronosyltransferase Family 1 Member A11, Pseudogene	Pseudogene	1
62	UGT1A12P	UDP Glucuronosyltransferase Family 1 Member A12, Pseudogene	Pseudogene	1
63	ASB1	Ankyrin Repeat And SOCS Box Containing 1	Protein Coding	1
64	SCLY	Selenocysteine Lyase	Protein Coding	1
65	ANKMY1	Ankyrin Repeat And MYND Domain Containing 1	Protein Coding	1
66	THAP4	THAP Domain Containing 4	Protein Coding	1
67	PRLH	Prolactin Releasing Hormone	Protein Coding	1
68	ANO7	Anoctamin 7	Protein Coding	1
69	NDUFA10	NADH:Ubiquinone Oxidoreductase Subunit A10	Protein Coding	1
70	DNAJB3	DnaJ Heat Shock Protein Family (Hsp40) Member B3	Pseudogene	1
71	UGT1A13P	UDP Glucuronosyltransferase Family 1 Member A13, Pseudogene	Pseudogene	1
72	ASB18	Ankyrin Repeat And SOCS Box Containing 18	Protein Coding	1
73	OR6B2	Olfactory Receptor Family 6 Subfamily B Member 2	Protein Coding	1
74	KLHL30	Kelch Like Family Member 30	Protein Coding	1
75	AQP12A	Aquaporin 12A	Protein Coding	1
76	RBM44	RNA Binding Motif Protein 44	Protein Coding	1
77	ESPNL	Espin Like	Protein Coding	1
78	MROH2A	Maestro Heat Like Repeat Family Member 2A	Protein Coding	1
79	MIR4786	MicroRNA 4786	RNA Gene	1
80	MIR4440	MicroRNA 4440	RNA Gene	1
81	AGAP1-IT1	AGAP1 Intronic Transcript 1	RNA Gene	1
82	GPR35	G Protein-Coupled Receptor 35	Protein Coding	1
83	RTP5	Receptor Transporter Protein 5 (Putative)	Protein Coding	1
84	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	1
85	SNED1	Sushi, Nidogen And EGF Like Domains 1	Protein Coding	1
86	ATG4B	Autophagy Related 4B Cysteine Peptidase	Protein Coding	1
87	LOC100419016	Proline Rich 21 Pseudogene	Pseudogene	1
88	RPL17P11	Ribosomal Protein L17 Pseudogene 11	Pseudogene	1

Disorders associated with 2q37 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Crigler-najjar syndrome, type i	Enrichment	UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9	16.00
2	Hyperbilirubinemia, transient familial neonatal	Enrichment	UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9	16.00
3	Bilirubin, serum level of, quantitative trait locus 1	Enrichment	UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9	16.00
4	Crigler-najjar syndrome, type ii	Enrichment	UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9	16.00
5	Gilbert syndrome	Enrichment	UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9	10.87
6	Bilirubin metabolic disorder	Enrichment	UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9	10.87
7	Barber-say syndrome	Enrichment	TWIST2	2.19
8	Advanced sleep phase syndrome, familial, 1	Enrichment	PER2	2.19
9	Focal facial dermal dysplasia 2, brauer-setleis type	Enrichment	TWIST2	2.19
10	Focal facial dermal dysplasia 3, setleis type	Enrichment	TWIST2	2.19
11	Ablepharon-macrostomia syndrome	Enrichment	TWIST2	2.19
12	Mitochondrial complex i deficiency, nuclear type 22	Enrichment	NDUFA10	2.19
13	Hyperoxaluria, primary, type i	Enrichment	AGXT	2.19
14	Chromosome 2q37 deletion syndrome	Enrichment	HDAC4	2.19
15	Autoimmune disease, multisystem, infantile-onset, 4	Enrichment	PDCD1	2.19
16	Ullrich congenital muscular dystrophy 1c	Enrichment	COL6A3	2.19
17	Systemic lupus erythematosus 2	Enrichment	PDCD1	2.19
18	Oculomotor-abducens synkinesis	Enrichment	ACKR3	2.19
19	Dystonia 27	Enrichment	COL6A3	2.19
20	Senior-loken syndrome 9	Enrichment	TRAF3IP1	2.19
21	Spastic paraplegia 30b, autosomal recessive	Enrichment	KIF1A	2.19
22	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	Enrichment	HDAC4	2.19
23	Polycystic ovary syndrome	Enrichment	CAPN10	2.19
24	Neurodegeneration, childhood-onset, with progressive microcephaly	Enrichment	DTYMK	2.19
25	Bethlem myopathy 1c	Enrichment	COL6A3	2.19
26	Griscelli syndrome, type 3	Enrichment	MLPH	1.89
27	Nescav syndrome	Enrichment	KIF1A	1.89
28	D-2-hydroxyglutaric aciduria 1	Enrichment	D2HGDH	1.89
29	Peho syndrome	Enrichment	KIF1A	1.89
30	Spastic paraplegia 30a, autosomal dominant	Enrichment	KIF1A	1.89
31	Lymphatic malformation 8	Enrichment	CALCRL	1.89
32	Neuropathy, hereditary sensory, type iic	Enrichment	KIF1A	1.89
33	Hereditary spastic paraplegia 30	Enrichment	KIF1A	1.89
34	D-2-hydroxyglutaric aciduria	Enrichment	D2HGDH	1.89
35	Primary hyperoxaluria	Enrichment	AGXT	1.89
36	Type 1 diabetes mellitus 2	Enrichment	CAPN10	1.71
37	Collagen vi-related dystrophies	Enrichment	COL6A3	1.71
38	Advanced sleep phase syndrome	Enrichment	PER2	1.71
39	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A3	1.71
40	Neuropathy, hereditary sensory and autonomic, type iia	Enrichment	KIF1A	1.59
41	Hereditary sensory and autonomic neuropathy type 2	Enrichment	KIF1A	1.59
42	Bethlem muscular dystrophy	Enrichment	COL6A3	1.59
43	Ullrich congenital muscular dystrophy 1a	Enrichment	COL6A3	1.49
44	Cholangitis, primary sclerosing	Enrichment	GPR35	1.49
45	Bethlem myopathy 1a	Enrichment	COL6A3	1.35
46	Nephrocalcinosis	Enrichment	AGXT	1.20
47	Nephrolithiasis	Enrichment	AGXT	1.20
48	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	TRAF3IP1	1.12
49	Senior-loken syndrome 1	Enrichment	TRAF3IP1	1.09
50	Syndromic intellectual disability	Enrichment	KIF1A	0.98
51	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	KIF1A	0.93
52	Jeune thoracic dystrophy	Enrichment	TRAF3IP1	0.82
53	Asphyxiating thoracic dystrophy	Enrichment	TRAF3IP1	0.78
54	Non-immune hydrops fetalis	Enrichment	CALCRL	0.74
55	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	TRAF3IP1	0.71
56	Systemic lupus erythematosus	Enrichment	PDCD1	0.65
57	Myopathy	Enrichment	COL6A3	0.64
58	Hereditary spastic paraplegia	Enrichment	KIF1A	0.62
59	Nephrotic syndrome	Enrichment	AGXT	0.61
60	Autosomal dominant non-syndromic intellectual disability	Enrichment	KIF1A	0.56
61	Spastic ataxia	Enrichment	KIF1A	0.53
62	Myeloma, multiple	Enrichment	HDAC4	0.51
63	Autism	Enrichment	AGAP1	0.43
64	Hereditary retinal dystrophy	Enrichment	SPP2	0.07
65	Fundus dystrophy	Enrichment	SPP2	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

2q37 copy number variation syndrome

Pathway Network for 2q37 copy number variation syndrome

Member Pathways for 2q37 copy number variation syndrome

Pathways in the 2q37 copy number variation syndrome SuperPath

Associated Genes for 2q37 copy number variation syndrome

Associated Disorders for 2q37 copy number variation syndrome

Disorders associated with 2q37 copy number variation syndrome SuperPath

STRING Interaction Network for 2q37 copy number variation syndrome

Sources for 2q37 copy number variation syndrome