1p36 copy number variation syndrome

No Pathway Network information available for 1p36 copy number variation syndrome

Pathways in the 1p36 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	1p36 copy number variation syndrome	WikiPathways	ACAP3 AGRN ANKRD65 ATAD3A ATAD3B ATAD3C AURKAIP1 B3GALT6 BTLA C1orf159 C1QTNF12 CALML6 CCNL2 CD160 CDK11A CDK11B CFAP74 COMMD1 CPTP CUL3 DKK3 DLL1 DLST DVL1 ELAVL1 ESR1 FAAP20 FNDC10 GABRD GDE1 GNB1 GRIK2 HES4 HES5 HSPA8 IFIH1 IFIT1 INTS10 INTS11 INTS13 INTS14 INTS4 INTS9 ISG15 KLHL17 KRT17 LRP4 MCM2 MEPCE METTL14 MIB2 MMP23B MORN1 MRPL20 MRPL20-AS1 MUSK MXRA8 NADK NOC2L OR4F16 OR4F29 OR4F5 PANK4 PARD6B PERM1 PEX10 PEX12 PEX2 PEX5 PHKG2 PLCH2 PLEKHN1 PRKCZ PUSL1 RBX1 RER1 RNF223 SAMD11 SCNN1D SDF4 SKI SSU72 TAS1R3 TGFB1 TMEM278 TMEM52 TNFRSF14 TNFRSF18 TNFRSF4 TNFSF18 TNFSF4 TRAF2 TRAF5 TRIM25 UBE2J2 VTN VWA1 (see all 97) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	VTN	Vitronectin	Protein Coding	1
2	PLCH2	Phospholipase C Eta 2	Protein Coding	1
3	CPTP	Ceramide-1-Phosphate Transfer Protein	Protein Coding	1
4	PANK4	Pantothenate Kinase 4 (Inactive)	Protein Coding	1
5	INTS11	Integrator Complex Subunit 11	Protein Coding	1
6	GDE1	Glycerophosphodiester Phosphodiesterase 1	Protein Coding	1
7	DLST	Dihydrolipoamide S-Succinyltransferase	Protein Coding	1
8	RBX1	Ring-Box 1	Protein Coding	1
9	ISG15	ISG15 Ubiquitin Like Modifier	Protein Coding	1
10	INTS4	Integrator Complex Subunit 4	Protein Coding	1
11	TNFRSF18	TNF Receptor Superfamily Member 18	Protein Coding	1
12	TNFRSF14	TNF Receptor Superfamily Member 14	Protein Coding	1
13	PARD6B	Par-6 Family Cell Polarity Regulator Beta	Protein Coding	1
14	CUL3	Cullin 3	Protein Coding	1
15	TAS1R3	Taste 1 Receptor Member 3	Protein Coding	1
16	MORN1	MORN Repeat Containing 1	Protein Coding	1
17	TNFRSF4	TNF Receptor Superfamily Member 4	Protein Coding	1
18	TNFSF4	TNF Superfamily Member 4	Protein Coding	1
19	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
20	SKI	SKI Proto-Oncogene	Protein Coding	1
21	IFIH1	Interferon Induced With Helicase C Domain 1	Protein Coding	1
22	PEX5	Peroxisomal Biogenesis Factor 5	Protein Coding	1
23	PEX2	Peroxisomal Biogenesis Factor 2	Protein Coding	1
24	METTL14	Methyltransferase 14, N6-Adenosine-Methyltransferase Non-Catalytic Subunit	Protein Coding	1
25	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
26	INTS13	Integrator Complex Subunit 13	Protein Coding	1
27	ATAD3A	ATPase Family AAA Domain Containing 3A	Protein Coding	1
28	PHKG2	Phosphorylase Kinase Catalytic Subunit Gamma 2	Protein Coding	1
29	PEX12	Peroxisomal Biogenesis Factor 12	Protein Coding	1
30	PEX10	Peroxisomal Biogenesis Factor 10	Protein Coding	1
31	SDF4	Stromal Cell Derived Factor 4	Protein Coding	1
32	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	1
33	MCM2	Minichromosome Maintenance Complex Component 2	Protein Coding	1
34	LRP4	LDL Receptor Related Protein 4	Protein Coding	1
35	HES5	Hes Family BHLH Transcription Factor 5	Protein Coding	1
36	KRT17	Keratin 17	Protein Coding	1
37	AGRN	Agrin	Protein Coding	1
38	IFIT1	Interferon Induced Protein With Tetratricopeptide Repeats 1	Protein Coding	1
39	HSPA8	Heat Shock Protein Family A (Hsp70) Member 8	Protein Coding	1
40	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	1
41	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	1
42	GNB1	G Protein Subunit Beta 1	Protein Coding	1
43	GABRD	Gamma-Aminobutyric Acid Type A Receptor Subunit Delta	Protein Coding	1
44	ESR1	Estrogen Receptor 1	Protein Coding	1
45	ELAVL1	ELAV Like RNA Binding Protein 1	Protein Coding	1
46	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	1
47	COMMD1	Copper Metabolism Domain Containing 1	Protein Coding	1
48	SAMD11	Sterile Alpha Motif Domain Containing 11	Protein Coding	1
49	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	1
50	CALML6	Calmodulin Like 6	Protein Coding	1
51	BTLA	B And T Lymphocyte Associated	Protein Coding	1
52	MRPL20-AS1	MRPL20 Antisense RNA 1	RNA Gene	1
53	TNFSF18	TNF Superfamily Member 18	Protein Coding	1
54	CFAP74	Cilia And Flagella Associated Protein 74	Protein Coding	1
55	MMP23B	Matrix Metallopeptidase 23B	Protein Coding	1
56	PERM1	PPARGC1 And ESRR Induced Regulator, Muscle 1	Protein Coding	1
57	PLEKHN1	Pleckstrin Homology Domain Containing N1	Protein Coding	1
58	ATAD3B	ATPase Family AAA Domain Containing 3B	Protein Coding	1
59	MIB2	MIB E3 Ubiquitin Protein Ligase 2	Protein Coding	1
60	PUSL1	Pseudouridine Synthase Like 1	Protein Coding	1
61	UBE2J2	Ubiquitin Conjugating Enzyme E2 J2	Protein Coding	1
62	ACAP3	ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 3	Protein Coding	1
63	CD160	CD160 Molecule	Protein Coding	1
64	RER1	Retention In Endoplasmic Reticulum Sorting Receptor 1	Protein Coding	1
65	CCNL2	Cyclin L2	Protein Coding	1
66	INTS14	Integrator Complex Subunit 14	Protein Coding	1
67	OR4F16	Olfactory Receptor Family 4 Subfamily F Member 16	Protein Coding	1
68	OR4F5	Olfactory Receptor Family 4 Subfamily F Member 5	Protein Coding	1
69	TRIM25	Tripartite Motif Containing 25	Protein Coding	1
70	OR4F29	Olfactory Receptor Family 4 Subfamily F Member 29	Protein Coding	1
71	CDK11A	Cyclin Dependent Kinase 11A	Protein Coding	1
72	TRAF5	TNF Receptor Associated Factor 5	Protein Coding	1
73	TRAF2	TNF Receptor Associated Factor 2	Protein Coding	1
74	NADK	NAD Kinase	Protein Coding	1
75	VWA1	Von Willebrand Factor A Domain Containing 1	Protein Coding	1
76	FNDC10	Fibronectin Type III Domain Containing 10	Protein Coding	1
77	TMEM278	Transmembrane Protein 278	Protein Coding	1
78	SCNN1D	Sodium Channel Epithelial 1 Subunit Delta	Protein Coding	1
79	HES4	Hes Family BHLH Transcription Factor 4	Protein Coding	1
80	MEPCE	Methylphosphate Capping Enzyme	Protein Coding	1
81	INTS9	Integrator Complex Subunit 9	Protein Coding	1
82	INTS10	Integrator Complex Subunit 10	Protein Coding	1
83	MRPL20	Mitochondrial Ribosomal Protein L20	Protein Coding	1
84	AURKAIP1	Aurora Kinase A Interacting Protein 1	Protein Coding	1
85	C1orf159	Chromosome 1 Open Reading Frame 159	Protein Coding	1
86	MXRA8	Matrix Remodeling Associated 8	Protein Coding	1
87	ANKRD65	Ankyrin Repeat Domain 65	Protein Coding	1
88	RNF223	Ring Finger Protein 223	Protein Coding	1
89	C1QTNF12	C1q And TNF Related 12	Protein Coding	1
90	TMEM52	Transmembrane Protein 52	Protein Coding	1
91	KLHL17	Kelch Like Family Member 17	Protein Coding	1
92	CDK11B	Cyclin Dependent Kinase 11B	Protein Coding	1
93	SSU72	SSU72 Homolog, RNA Polymerase II CTD Phosphatase	Protein Coding	1
94	DKK3	Dickkopf Wnt Signaling Pathway Inhibitor 3	Protein Coding	1
95	NOC2L	NOC2 Like Nucleolar Associated Transcriptional Repressor	Protein Coding	1
96	ATAD3C	ATPase Family AAA Domain Containing 3C	Protein Coding	1
97	FAAP20	FA Core Complex Associated Protein 20	Protein Coding	1

Disorders associated with 1p36 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant	Enrichment	ATAD3A, ATAD3B, ATAD3C	5.85
2	Chromosome 1p36 deletion syndrome	Enrichment	GABRD, MMP23B, PRKCZ, SKI	5.78
3	Neonatal adrenoleukodystrophy	Enrichment	PEX10, PEX12, PEX2, PEX5	5.78
4	Peroxisome biogenesis disorder 1b	Enrichment	PEX10, PEX12, PEX2, PEX5	5.50
5	Zellweger syndrome	Enrichment	PEX10, PEX12, PEX2, PEX5	5.50
6	Zellweger spectrum disorder	Enrichment	PEX10, PEX2, PEX5	4.71
7	Cerebral visual impairment	Enrichment	GNB1, GRIK2	4.30
8	Postsynaptic congenital myasthenic syndromes	Enrichment	AGRN, LRP4, MUSK	4.13
9	Myasthenic syndrome, congenital, 8	Enrichment	AGRN, PERM1	3.30
10	Pachyonychia congenita 2	Enrichment	KRT17	2.15
11	Peroxisome biogenesis disorder 2a	Enrichment	PEX5	2.15
12	Peroxisome biogenesis disorder 3b	Enrichment	PEX12	2.15
13	Al-gazali syndrome	Enrichment	B3GALT6	2.15
14	Glycogen storage disease ixc	Enrichment	PHKG2	2.15
15	Immunodeficiency 16	Enrichment	TNFRSF4	2.15
16	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	2.15
17	Peroxisome biogenesis disorder 3a	Enrichment	PEX12	2.15
18	Shprintzen-goldberg craniosynostosis syndrome	Enrichment	SKI	2.15
19	Immunodeficiency 38 with basal ganglia calcification	Enrichment	ISG15	2.15
20	Singleton-merten syndrome 1	Enrichment	IFIH1	2.15
21	Steatocystoma multiplex	Enrichment	KRT17	2.15
22	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	Enrichment	B3GALT6	2.15
23	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	Enrichment	MUSK	2.15
24	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Enrichment	GRIK2	2.15
25	Immunodeficiency 95	Enrichment	IFIH1	2.15
26	Ciliary dyskinesia, primary, 49, without situs inversus	Enrichment	CFAP74	2.15
27	Pheochromocytoma/paraganglioma syndrome 7	Enrichment	DLST	2.15
28	Type 1 diabetes mellitus 19	Enrichment	IFIH1	2.15
29	Epilepsy, idiopathic generalized 10	Enrichment	GABRD	2.15
30	Cataract 49	Enrichment	PANK4	2.15
31	Intellectual developmental disorder, autosomal recessive 6	Enrichment	GRIK2	2.15
32	Deafness, autosomal dominant 70	Enrichment	MCM2	2.15
33	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Enrichment	ATAD3A	2.15
34	Peroxisome biogenesis disorder 6a	Enrichment	PEX10	2.15
35	Peroxisome biogenesis disorder 6b	Enrichment	PEX10	2.15
36	Harel-yoon syndrome	Enrichment	ATAD3A	2.15
37	Neuronopathy, distal hereditary motor, autosomal recessive 7	Enrichment	VWA1	2.15
38	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	2.15
39	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	2.15
40	Rhizomelic chondrodysplasia punctata, type 5	Enrichment	PEX5	2.15
41	Aicardi-goutieres syndrome 7	Enrichment	IFIH1	2.15
42	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	Enrichment	INTS11	2.15
43	Autosomal recessive ataxia due to pex10 deficiency	Enrichment	PEX10	2.15
44	Spondyloepimetaphyseal dysplasia with joint laxity	Enrichment	B3GALT6	2.15
45	Autosomal recessive ataxia due to pex2 deficiency	Enrichment	PEX2	2.15
46	Myocardial infarction	Enrichment	ESR1, TNFSF4	1.97
47	Camurati-engelmann disease 1	Enrichment	TGFB1	1.85
48	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3	1.85
49	Ehlers-danlos syndrome, spondylodysplastic type, 2	Enrichment	B3GALT6	1.85
50	Sclerosteosis 2	Enrichment	LRP4	1.85
51	Peroxisome biogenesis disorder 2b	Enrichment	PEX5	1.85
52	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Enrichment	DLL1	1.85
53	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.85
54	Sclerosteosis	Enrichment	LRP4	1.85
55	Camurati-engelmann disease	Enrichment	TGFB1	1.85
56	Neuronopathy, distal hereditary motor, autosomal recessive 5	Enrichment	VWA1	1.85
57	Myasthenic syndrome, congenital, 17	Enrichment	LRP4	1.85
58	Basal ganglia disease	Enrichment	IFIH1	1.85
59	Glycogen storage disease due to liver phosphorylase kinase deficiency	Enrichment	PHKG2	1.85
60	Singleton-merten syndrome	Enrichment	IFIH1	1.85
61	Pseudohypoaldosteronism, type iia	Enrichment	CUL3	1.67
62	Nail disorder, nonsyndromic congenital, 4	Enrichment	KRT17	1.67
63	Peroxisome biogenesis disorder 5b	Enrichment	PEX2	1.67
64	Estrogen resistance	Enrichment	ESR1	1.67
65	Cenani-lenz syndactyly syndrome	Enrichment	LRP4	1.67
66	Peroxisome biogenesis disorder 5a	Enrichment	PEX2	1.67
67	Bronchopulmonary dysplasia	Enrichment	MUSK	1.67
68	Migraine without aura	Enrichment	ESR1	1.67
69	Pachyonychia congenita 1	Enrichment	KRT17	1.55
70	Robinow syndrome, autosomal dominant 1	Enrichment	DVL1	1.55
71	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.55
72	Rhizomelic chondrodysplasia punctata	Enrichment	PEX5	1.55
73	Autosomal dominant robinow syndrome	Enrichment	DVL1	1.55
74	Robinow syndrome, autosomal recessive 1	Enrichment	DVL1	1.45
75	Goldberg-shprintzen syndrome	Enrichment	SKI	1.45
76	Robinow syndrome, autosomal dominant 2	Enrichment	DVL1	1.45
77	Spastic diplegia	Enrichment	IFIH1	1.45
78	Phosphorylase kinase deficiency	Enrichment	PHKG2	1.45
79	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	B3GALT6	1.38
80	Peroxisome biogenesis disorder 1a	Enrichment	PEX5	1.38
81	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.38
82	Autosomal recessive robinow syndrome	Enrichment	DVL1	1.38
83	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.38
84	Autosomal dominant non-syndromic intellectual disability	Enrichment	DLL1, GNB1	1.30
85	Narcolepsy 1	Enrichment	TNFSF4	1.25
86	Hypothyroidism	Enrichment	GNB1	1.25
87	Early-onset posterior polar cataract	Enrichment	PANK4	1.25
88	Aicardi-goutiares syndrome	Enrichment	IFIH1	1.20
89	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	MUSK	1.16
90	Aicardi-goutieres syndrome	Enrichment	IFIH1	1.16
91	Migraine with or without aura 1	Enrichment	ESR1	1.12
92	Epilepsy, myoclonic juvenile	Enrichment	GABRD	1.12
93	Epilepsy, idiopathic generalized	Enrichment	GABRD	1.12
94	Leukemia, acute lymphoblastic	Enrichment	GNB1	1.12
95	Myelodysplastic syndrome	Enrichment	GNB1	1.12
96	Presynaptic congenital myasthenic syndromes	Enrichment	AGRN	1.12
97	Nk-cell enteropathy	Enrichment	CUL3	1.05
98	Generalized epilepsy with febrile seizures plus	Enrichment	GABRD	1.02
99	Congenital myasthenic syndrome	Enrichment	AGRN	1.02
100	Septopreoptic holoprosencephaly	Enrichment	DLL1	0.99
101	Midline interhemispheric variant of holoprosencephaly	Enrichment	DLL1	0.99
102	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	ATAD3A	0.96
103	Microform holoprosencephaly	Enrichment	DLL1	0.96
104	Lobar holoprosencephaly	Enrichment	DLL1	0.96
105	Cleft palate, isolated	Enrichment	GNB1	0.94
106	Polycystic liver disease	Enrichment	DKK3	0.94
107	Autosomal dominant polycystic liver disease	Enrichment	DKK3	0.94
108	Alobar holoprosencephaly	Enrichment	DLL1	0.94
109	Neuromuscular disease	Enrichment	VWA1	0.92
110	Semilobar holoprosencephaly	Enrichment	DLL1	0.92
111	Esophageal atresia/tracheoesophageal fistula	Enrichment	KLHL17	0.89
112	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	DLST	0.85
113	Multisystem inflammatory syndrome in children	Enrichment	IFIH1	0.84
114	Skin disease	Enrichment	KRT17	0.84
115	Strabismus	Enrichment	GNB1	0.75
116	Autism spectrum disorder	Enrichment	CUL3, GNB1	0.74
117	Cystic fibrosis	Enrichment	TGFB1	0.69
118	Complex neurodevelopmental disorder	Enrichment	CUL3, GRIK2	0.65
119	Left ventricular noncompaction	Enrichment	MIB2	0.65
120	Dystonia	Enrichment	GNB1	0.65
121	Fetal akinesia deformation sequence 1	Enrichment	MUSK	0.63
122	Systemic lupus erythematosus	Enrichment	TNFSF4	0.61
123	Cerebral palsy	Enrichment	GNB1	0.61
124	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SKI	0.57
125	Hereditary breast carcinoma	Enrichment	ESR1	0.57
126	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MCM2	0.51
127	Spastic ataxia	Enrichment	PEX10	0.50
128	Myeloma, multiple	Enrichment	TRAF5	0.48
129	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIK2	0.47
130	Breast cancer	Enrichment	ESR1	0.38
131	Primary ciliary dyskinesia	Enrichment	CFAP74	0.38
132	Microcephaly	Enrichment	GNB1	0.23

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

1p36 copy number variation syndrome

Pathway Network for 1p36 copy number variation syndrome

Member Pathways for 1p36 copy number variation syndrome

Pathways in the 1p36 copy number variation syndrome SuperPath

Associated Genes for 1p36 copy number variation syndrome

Associated Disorders for 1p36 copy number variation syndrome

Disorders associated with 1p36 copy number variation syndrome SuperPath

STRING Interaction Network for 1p36 copy number variation syndrome

Sources for 1p36 copy number variation syndrome