Sudden infant death syndrome (SIDS) susceptibility pathways

No Pathway Network information available for Sudden infant death syndrome (SIDS) susceptibility pathways

Pathways in the Sudden infant death syndrome (SIDS) susceptibility pathways SuperPath

#	Name	Source	Genes
1	Sudden infant death syndrome (SIDS) susceptibility pathways	WikiPathways	ACADM ADCYAP1 ADCYAP1R1 ALDOA AQP4 AR ASCL1 ATP1A3 AVP BDNF BHLHE40 C4A C4B CASP3 CAV3 CC2D1A CDCA7L CEBPB CHAT CHRM2 CHRNA4 CHRNA7 CHRNB2 CHRNB4 CPT1A CREB1 CREBBP CREM CTCF CTNNB1 CXCL8 DDC DEAF1 DLX2 ECE1 EGR1 EN1 EP300 ESR2 FEV FMO3 FOXM1 G6PC1 GABRA1 GAPDH GATA2 GATA3 GCK GJA1 GNB3 GPD1L GRIN1 HADHA HADHB HDAC1 HDAC9 HES1 HES5 HIF1A HSP90B1 HSPD1 HTR1A HTR2A HTR3A IL10 IL13 IL1A IL1B IL1RN IL6 IL6R JUN KCNH2 KCNJ8 KCNQ1 LMX1B MAOA MAP2 MAZ MBD1 MECP2 MEF2C MIR130A MIR16-1 MIR210 MYB NANOG NEUROD1 NFKB1 NFKB2 NFYA NGF NKX2-2 NKX3-1 NOS1AP NR3C1 NTRK2 PAH PBX1 PHOX2A PHOX2B PKNOX1 PLP1 POU2F2 POU3F2 POU5F1 PPARGC1A PPARGC1B PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B REST RET RORA RUNX3 RYR2 SCN3B SCN4B SCN5A SLC1A3 SLC25A4 SLC6A4 SLC9A3 SNAP25 SNTA1 SOX2 SP1 SP3 SPTBN1 SST SSTR1 SSTR2 TAC1 TACR1 TCF3 TF TH THRB TLX3 TNF TP73 TPH1 TPH2 TPPP TSPYL1 VAMP2 VEGFA VIPR1 VIPR2 YBX1 YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 159) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	TPPP	Tubulin Polymerization Promoting Protein	Protein Coding	1
2	HDAC9	Histone Deacetylase 9	Protein Coding	1
3	PHOX2B	Paired Like Homeobox 2B	Protein Coding	1
4	RUNX3	RUNX Family Transcription Factor 3	Protein Coding	1
5	CAV3	Caveolin 3	Protein Coding	1
6	BHLHE40	Basic Helix-Loop-Helix Family Member E40	Protein Coding	1
7	CASP3	Caspase 3	Protein Coding	1
8	NANOG	Nanog Homeobox	Protein Coding	1
9	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
10	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
11	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
12	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
13	VIPR2	Vasoactive Intestinal Peptide Receptor 2	Protein Coding	1
14	VIPR1	Vasoactive Intestinal Peptide Receptor 1	Protein Coding	1
15	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
16	TSPYL1	TSPY Like 1	Protein Coding	1
17	C4B	Complement C4B (Chido/Rodgers Blood Group)	Protein Coding	1
18	C4A	Complement C4A (Chido/Rodgers Blood Group)	Protein Coding	1
19	HSP90B1	Heat Shock Protein 90 Beta Family Member 1	Protein Coding	1
20	TPH1	Tryptophan Hydroxylase 1	Protein Coding	1
21	TP73	Tumor Protein P73	Protein Coding	1
22	TNF	Tumor Necrosis Factor	Protein Coding	1
23	THRB	Thyroid Hormone Receptor Beta	Protein Coding	1
24	TH	Tyrosine Hydroxylase	Protein Coding	1
25	TF	Transferrin	Protein Coding	1
26	TCF3	Transcription Factor 3	Protein Coding	1
27	TACR1	Tachykinin Receptor 1	Protein Coding	1
28	TAC1	Tachykinin Precursor 1	Protein Coding	1
29	SSTR2	Somatostatin Receptor 2	Protein Coding	1
30	SSTR1	Somatostatin Receptor 1	Protein Coding	1
31	SST	Somatostatin	Protein Coding	1
32	SPTBN1	Spectrin Beta, Non-Erythrocytic 1	Protein Coding	1
33	SP1	Sp1 Transcription Factor	Protein Coding	1
34	SOX2	SRY-Box Transcription Factor 2	Protein Coding	1
35	SNTA1	Syntrophin Alpha 1	Protein Coding	1
36	SNAP25	Synaptosome Associated Protein 25	Protein Coding	1
37	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	1
38	SLC6A4	Solute Carrier Family 6 Member 4	Protein Coding	1
39	SLC1A3	Solute Carrier Family 1 Member 3	Protein Coding	1
40	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	1
41	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	1
42	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	1
43	RYR2	Ryanodine Receptor 2	Protein Coding	1
44	RORA	RAR Related Orphan Receptor A	Protein Coding	1
45	RET	Ret Proto-Oncogene	Protein Coding	1
46	REST	RE1 Silencing Transcription Factor	Protein Coding	1
47	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	1
48	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
49	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
50	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
51	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
52	AVP	Arginine Vasopressin	Protein Coding	1
53	CC2D1A	Coiled-Coil And C2 Domain Containing 1A	Protein Coding	1
54	FEV	FEV Transcription Factor, ETS Family Member	Protein Coding	1
55	POU5F1	POU Class 5 Homeobox 1	Protein Coding	1
56	POU3F2	POU Class 3 Homeobox 2	Protein Coding	1
57	POU2F2	POU Class 2 Homeobox 2	Protein Coding	1
58	PLP1	Proteolipid Protein 1	Protein Coding	1
59	PBX1	PBX Homeobox 1	Protein Coding	1
60	PAH	Phenylalanine Hydroxylase	Protein Coding	1
61	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
62	YBX1	Y-Box Binding Protein 1	Protein Coding	1
63	NKX3-1	NK3 Homeobox 1	Protein Coding	1
64	NGF	Nerve Growth Factor	Protein Coding	1
65	NFYA	Nuclear Transcription Factor Y Subunit Alpha	Protein Coding	1
66	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	1
67	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
68	ATP1A3	ATPase Na+/K+ Transporting Subunit Alpha 3	Protein Coding	1
69	NEUROD1	Neuronal Differentiation 1	Protein Coding	1
70	MYB	MYB Proto-Oncogene, Transcription Factor	Protein Coding	1
71	ASCL1	Achaete-Scute Family BHLH Transcription Factor 1	Protein Coding	1
72	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
73	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	1
74	MBD1	Methyl-CpG Binding Domain Protein 1	Protein Coding	1
75	MAZ	MYC Associated Zinc Finger Protein	Protein Coding	1
76	MAP2	Microtubule Associated Protein 2	Protein Coding	1
77	MAOA	Monoamine Oxidase A	Protein Coding	1
78	MIR210	MicroRNA 210	RNA Gene	1
79	MIR16-1	MicroRNA 16-1	RNA Gene	1
80	MIR130A	MicroRNA 130a	RNA Gene	1
81	LMX1B	LIM Homeobox Transcription Factor 1 Beta	Protein Coding	1
82	PHOX2A	Paired Like Homeobox 2A	Protein Coding	1
83	HES5	Hes Family BHLH Transcription Factor 5	Protein Coding	1
84	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	1
85	KCNJ8	Potassium Inwardly Rectifying Channel Subfamily J Member 8	Protein Coding	1
86	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	1
87	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
88	AR	Androgen Receptor	Protein Coding	1
89	AQP4	Aquaporin 4	Protein Coding	1
90	IL13	Interleukin 13	Protein Coding	1
91	IL10	Interleukin 10	Protein Coding	1
92	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	1
93	IL6R	Interleukin 6 Receptor	Protein Coding	1
94	IL6	Interleukin 6	Protein Coding	1
95	IL1RN	Interleukin 1 Receptor Antagonist	Protein Coding	1
96	IL1B	Interleukin 1 Beta	Protein Coding	1
97	IL1A	Interleukin 1 Alpha	Protein Coding	1
98	ACADM	Acyl-CoA Dehydrogenase Medium Chain	Protein Coding	1
99	HTR3A	5-Hydroxytryptamine Receptor 3A	Protein Coding	1
100	HTR2A	5-Hydroxytryptamine Receptor 2A	Protein Coding	1
101	HTR1A	5-Hydroxytryptamine Receptor 1A	Protein Coding	1
102	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	1
103	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	1
104	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
105	HDAC1	Histone Deacetylase 1	Protein Coding	1
106	HADHB	Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Beta	Protein Coding	1
107	HADHA	Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha	Protein Coding	1
108	SLC25A4	Solute Carrier Family 25 Member 4	Protein Coding	1
109	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	1
110	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
111	GNB3	G Protein Subunit Beta 3	Protein Coding	1
112	GJA1	Gap Junction Protein Alpha 1	Protein Coding	1
113	GCK	Glucokinase	Protein Coding	1
114	GATA3	GATA Binding Protein 3	Protein Coding	1
115	GATA2	GATA Binding Protein 2~Name Same As:- HGNC:18350	Protein Coding	1
116	GAPDH	Glyceraldehyde-3-Phosphate Dehydrogenase	Protein Coding	1
117	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	1
118	G6PC1	Glucose-6-Phosphatase Catalytic Subunit 1	Protein Coding	1
119	FMO3	Flavin Containing Dimethylaniline Monoxygenase 3	Protein Coding	1
120	GPD1L	Glycerol-3-Phosphate Dehydrogenase 1 Like	Protein Coding	1
121	FOXM1	Forkhead Box M1	Protein Coding	1
122	ALDOA	Aldolase, Fructose-Bisphosphate A	Protein Coding	1
123	ESR2	Estrogen Receptor 2	Protein Coding	1
124	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
125	EN1	Engrailed Homeobox 1	Protein Coding	1
126	EGR1	Early Growth Response 1	Protein Coding	1
127	ECE1	Endothelin Converting Enzyme 1	Protein Coding	1
128	DLX2	Distal-Less Homeobox 2	Protein Coding	1
129	DDC	Dopa Decarboxylase	Protein Coding	1
130	CTNNB1	Catenin Beta 1	Protein Coding	1
131	CREM	CAMP Responsive Element Modulator	Protein Coding	1
132	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
133	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
134	CPT1A	Carnitine Palmitoyltransferase 1A	Protein Coding	1
135	PPARGC1B	PPARG Coactivator 1 Beta	Protein Coding	1
136	TPH2	Tryptophan Hydroxylase 2	Protein Coding	1
137	ADCYAP1R1	ADCYAP Receptor Type I	Protein Coding	1
138	ADCYAP1	Adenylate Cyclase Activating Polypeptide 1	Protein Coding	1
139	CHRNB4	Cholinergic Receptor Nicotinic Beta 4 Subunit	Protein Coding	1
140	CHRNB2	Cholinergic Receptor Nicotinic Beta 2 Subunit	Protein Coding	1
141	CHRNA7	Cholinergic Receptor Nicotinic Alpha 7 Subunit	Protein Coding	1
142	CHRNA4	Cholinergic Receptor Nicotinic Alpha 4 Subunit	Protein Coding	1
143	CHRM2	Cholinergic Receptor Muscarinic 2	Protein Coding	1
144	CHAT	Choline O-Acetyltransferase	Protein Coding	1
145	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
146	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	1
147	CTCF	CCCTC-Binding Factor	Protein Coding	1
148	DEAF1	DEAF1 Transcription Factor	Protein Coding	1
149	CEBPB	CCAAT Enhancer Binding Protein Beta	Protein Coding	1
150	NOS1AP	Nitric Oxide Synthase 1 Adaptor Protein	Protein Coding	1
151	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
152	VAMP2	Vesicle Associated Membrane Protein 2	Protein Coding	1
153	SP3	Sp3 Transcription Factor	Protein Coding	1
154	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
155	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
156	CDCA7L	Cell Division Cycle Associated 7 Like	Protein Coding	1
157	PKNOX1	PBX/Knotted 1 Homeobox 1	Protein Coding	1
158	NKX2-2	NK2 Homeobox 2	Protein Coding	1
159	TLX3	T Cell Leukemia Homeobox 3	Protein Coding	1

Disorders associated with Sudden infant death syndrome (SIDS) susceptibility pathways SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Long qt syndrome 1	Enrichment	CAV3, KCNH2, KCNQ1, NOS1AP, SCN4B, SCN5A, SNTA1	7.36
2	Long qt syndrome	Enrichment	CAV3, KCNH2, KCNQ1, RYR2, SCN5A, SNTA1	5.87
3	Long qt syndrome 2	Enrichment	KCNH2, KCNQ1, SCN5A	5.20
4	Atrial fibrillation	Enrichment	KCNQ1, SCN5A, SNTA1	5.20
5	Haddad syndrome	Enrichment	ASCL1, PHOX2B, RET	5.20
6	Brugada syndrome	Enrichment	GPD1L, KCNH2, KCNJ8, SCN3B, SCN5A	4.95
7	Sudden infant death syndrome	Enrichment	CAV3, KCNJ8, KCNQ1, SCN5A	4.42
8	Systemic lupus erythematosus	Enrichment	C4A, C4B, IL10, MECP2, TNF	4.06
9	Congenital central hypoventilation syndrome	Enrichment	BDNF, PHOX2B, RET	3.90
10	Obsessive-compulsive disorder	Enrichment	HTR2A, SLC6A4	3.86
11	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	PBX1, TCF3	3.86
12	Familial atrial fibrillation	Enrichment	KCNQ1, SCN3B, SCN4B, SCN5A	3.79
13	Congenital long qt syndrome	Enrichment	KCNH2, KCNQ1, SCN5A	3.49
14	Thyroid carcinoma, familial medullary	Enrichment	ESR2, RET	3.39
15	Epilepsy, nocturnal frontal lobe, 1	Enrichment	CHRNA4, CHRNB2	3.39
16	Mitochondrial trifunctional protein deficiency 1	Enrichment	HADHA, HADHB	3.39
17	Mitochondrial trifunctional protein deficiency	Enrichment	HADHA, HADHB	3.39
18	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	RYR2, SCN5A	3.09
19	Central hypoventilation syndrome, congenital, 1	Enrichment	PHOX2B, RET	3.09
20	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	CHRNA4, CHRNB2	3.09
21	Sick sinus syndrome	Enrichment	MECP2, SCN5A	3.09
22	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2, SCN5A	3.09
23	Major depressive disorder	Enrichment	HTR2A, TPH2	2.87
24	Heart conduction disease	Enrichment	RYR2, SCN5A	2.87
25	Congenital short qt syndrome	Enrichment	KCNH2, KCNQ1	2.87
26	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	2.70
27	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	2.70
28	Adrenocortical carcinoma	Enrichment	CTNNB1, PRKAR1A	2.70
29	Brugada syndrome 1	Enrichment	KCNH2, SCN5A	2.56
30	Common variable immunodeficiency	Enrichment	NFKB1, NFKB2	2.56
31	Focal epilepsy	Enrichment	MECP2, SNAP25	2.56
32	Autosomal dominant sleep-related hypermotor epilepsy	Enrichment	CHRNA4, CHRNB2	2.56
33	Alternating hemiplegia of childhood	Enrichment	ATP1A3, SLC1A3	2.44
34	Immunodeficiency due to a classical component pathway complement deficiency	Enrichment	C4A, C4B	2.44
35	Hirschsprung disease 1	Enrichment	ECE1, PHOX2B, RET	2.34
36	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	2.33
37	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CHRNA4, CHRNB4, MEF2C, PPARGC1A	2.33
38	Asthma	Enrichment	IL13, TNF	2.15
39	Frontotemporal dementia 1	Enrichment	CHRNA4, CHRNB4	2.15
40	Presynaptic congenital myasthenic syndromes	Enrichment	CHAT, SNAP25	2.15
41	Dystonia	Enrichment	ATP1A3, MECP2, TH	2.10
42	Cardiac conduction defect	Enrichment	RYR2, SCN5A	2.08
43	Stereotypic movement disorder	Enrichment	MECP2, SNAP25	2.01
44	Autism	Enrichment	CC2D1A, CREBBP, DEAF1, MECP2	2.00
45	Epilepsy	Enrichment	ATP1A3, GABRA1, MECP2	1.94
46	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	1.93
47	Multiple endocrine neoplasia, type iib	Enrichment	RET	1.93
48	Diabetes insipidus, neurohypophyseal	Enrichment	AVP	1.93
49	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.93
50	Apnea, central sleep	Enrichment	CHAT	1.93
51	Focal segmental glomerulosclerosis 10	Enrichment	LMX1B	1.93
52	Hypoplastic left heart syndrome 1	Enrichment	GJA1	1.93
53	Prostate cancer, hereditary, x-linked 3	Enrichment	AR	1.93
54	Androgen insensitivity, partial	Enrichment	AR	1.93
55	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	Enrichment	ATP1A3	1.93
56	Facial hypertrichosis	Enrichment	MECP2	1.93
57	Carney complex, type 1	Enrichment	PRKAR1A	1.93
58	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2	Enrichment	SLC25A4	1.93
59	Oculodentodigital dysplasia	Enrichment	GJA1	1.93
60	Episodic ataxia, type 6	Enrichment	SLC1A3	1.93
61	Maturity-onset diabetes of the young, type 6	Enrichment	NEUROD1	1.93
62	Maturity-onset diabetes of the young, type 2	Enrichment	GCK	1.93
63	Epilepsy, idiopathic generalized 13	Enrichment	GABRA1	1.93
64	Nail-patella syndrome	Enrichment	LMX1B	1.93
65	Long qt syndrome 10	Enrichment	SCN4B	1.93
66	Glucocorticoid resistance, generalized	Enrichment	NR3C1	1.93
67	Short qt syndrome 1	Enrichment	KCNH2	1.93
68	Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis	Enrichment	IL1RN	1.93
69	Wilms tumor 6	Enrichment	REST	1.93
70	Alternating hemiplegia of childhood 2	Enrichment	ATP1A3	1.93
71	Acyl-coa dehydrogenase, medium-chain, deficiency of	Enrichment	ACADM	1.93
72	Atransferrinemia	Enrichment	TF	1.93
73	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	1.93
74	Mitochondrial dna depletion syndrome 12b , autosomal recessive	Enrichment	SLC25A4	1.93
75	Ciliary dyskinesia, primary, 47, and lissencephaly	Enrichment	TP73	1.93
76	Endove syndrome, limb-brain type	Enrichment	EN1	1.93
77	Intellectual developmental disorder, x-linked, syndromic, lubs type	Enrichment	MECP2	1.93
78	Developmental and epileptic encephalopathy 117	Enrichment	SNAP25	1.93
79	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.93
80	Developmental and epileptic encephalopathy 99	Enrichment	ATP1A3	1.93
81	Agammaglobulinemia 8b, autosomal recessive	Enrichment	TCF3	1.93
82	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Enrichment	PBX1	1.93
83	Auriculocondylar syndrome 4	Enrichment	HDAC9	1.93
84	Autism x-linked 3	Enrichment	MECP2	1.93
85	Nephrotic syndrome, type 22	Enrichment	NOS1AP	1.93
86	Lymphedema, primary, with myelodysplasia	Enrichment	GATA2	1.93
87	Complement component 4a deficiency	Enrichment	C4A	1.93
88	Graft-versus-host disease	Enrichment	IL10	1.93
89	Brunner syndrome	Enrichment	MAOA	1.93
90	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.93
91	Brugada syndrome 2	Enrichment	GPD1L	1.93
92	Developmental delay, impaired speech, and behavioral abnormalities	Enrichment	SPTBN1	1.93
93	Central diabetes insipidus	Enrichment	AVP	1.93
94	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	1.93
95	Myxoma, intracardiac	Enrichment	PRKAR1A	1.93
96	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	1.93
97	Mitochondrial dna depletion syndrome 12a , autosomal dominant	Enrichment	SLC25A4	1.93
98	Allergic rhinitis	Enrichment	IL13	1.93
99	Hyperinsulinemic hypoglycemia, familial, 3	Enrichment	GCK	1.93
100	Developmental and epileptic encephalopathy 19	Enrichment	GABRA1	1.93
101	Microvascular complications of diabetes 1	Enrichment	VEGFA	1.93
102	Agammaglobulinemia 8a, autosomal dominant	Enrichment	TCF3	1.93
103	Epilepsy, nocturnal frontal lobe, 3	Enrichment	CHRNB2	1.93
104	Fibrosis of extraocular muscles, congenital, 2	Enrichment	PHOX2A	1.93
105	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	1.93
106	Microvascular complications of diabetes 4	Enrichment	IL1RN	1.93
107	Ovarian dysgenesis 8	Enrichment	ESR2	1.93
108	Spastic paraplegia 13, autosomal dominant	Enrichment	HSPD1	1.93
109	Hirschsprung disease, cardiac defects, and autonomic dysfunction	Enrichment	ECE1	1.93
110	Deafness, autosomal dominant 27	Enrichment	REST	1.93
111	Periodic fever, menstrual cycle-dependent	Enrichment	HTR1A	1.93
112	Long qt syndrome 12	Enrichment	SNTA1	1.93
113	Interleukin 6, serum level of, quantitative trait locus	Enrichment	IL6R	1.93
114	Immunodeficiency 21	Enrichment	GATA2	1.93
115	Blood group, chido/rodgers system	Enrichment	C4A	1.93
116	Complement component 4b deficiency	Enrichment	C4B	1.93
117	Soluble interleukin-6 receptor, serum level of, quantitative trait locus	Enrichment	IL6R	1.93
118	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	Enrichment	VAMP2	1.93
119	Hyper-ige syndrome 5, autosomal recessive, with recurrent infections	Enrichment	IL6R	1.93
120	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.93
121	Epilepsy with generalized tonic-clonic seizures	Enrichment	SNAP25	1.93
122	Syndromic x-linked intellectual disability lubs type	Enrichment	MECP2	1.93
123	Brugada syndrome 7	Enrichment	SCN3B	1.93
124	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	1.93
125	Mitochondrial metabolism disease	Enrichment	SLC25A4	1.93
126	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.93
127	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	1.93
128	Schizophrenia 16	Enrichment	VIPR2	1.93
129	Fibromatosis, gingival, 5	Enrichment	REST	1.93
130	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	1.93
131	Ctcf-related disorder	Enrichment	CTCF	1.93
132	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.93
133	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	1.93
134	Deafness-lymphedema-leukemia syndrome	Enrichment	GATA2	1.93
135	Deficiency in anterior pituitary function - variable immunodeficiency syndrome	Enrichment	NFKB2	1.93
136	Mitochondrial trifunctional protein deficiency 2	Enrichment	HADHB	1.93
137	Lipoid nephrosis	Enrichment	LMX1B	1.93
138	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.93
139	Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	Enrichment	AQP4	1.93
140	Adenoid ameloblastoma	Enrichment	CTNNB1	1.93
141	Acute fatty liver of pregnancy	Enrichment	HADHA	1.93
142	Aspiration pneumonia	Enrichment	CHAT	1.93
143	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.93
144	Gestational diabetes	Enrichment	GCK	1.93
145	Atp1a3-related disorder	Enrichment	ATP1A3	1.93
146	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.93
147	Oculogyric crisis	Enrichment	ATP1A3	1.93
148	5q14.3 microdeletion syndrome	Enrichment	MEF2C	1.93
149	Thyroid cancer	Enrichment	RET	1.93
150	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	1.93
151	Hemiplegia	Enrichment	ATP1A3	1.93
152	Complete androgen insensitivity syndrome	Enrichment	AR	1.93
153	Medium-chain acyl-coenzyme a dehydrogenase deficiency	Enrichment	ACADM	1.93
154	Menke-hennekam syndrome	Enrichment	CREBBP	1.93
155	Hirschsprung disease-ganglioneuroblastoma syndrome	Enrichment	PHOX2B	1.93
156	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	1.93
157	Hypomyelination of early myelinating structures	Enrichment	PLP1	1.93
158	Severe primary trimethylaminuria	Enrichment	FMO3	1.93
159	Mef2c-related disorder	Enrichment	MEF2C	1.93
160	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Enrichment	PAH	1.93
161	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	Enrichment	THRB	1.93
162	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	1.93
163	Generalized resistance to thyroid hormone	Enrichment	THRB	1.93
164	Microcystic stromal tumor	Enrichment	CTNNB1	1.93
165	Gastrointestinal system disease	Enrichment	RET	1.93
166	Hereditary arginine vasopressin deficiency	Enrichment	AVP	1.93
167	Multiple endocrine neoplasia	Enrichment	RET	1.93
168	Rare genetic intellectual disability	Enrichment	CREBBP, EP300	1.89
169	Type 2 diabetes mellitus	Enrichment	GCK, IL6, NEUROD1	1.89
170	Wolff-parkinson-white syndrome	Enrichment	KCNQ1, SCN5A	1.83
171	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR2, SCN5A	1.83
172	Microcephaly	Enrichment	CTNNB1, EP300, MECP2, SNAP25, YWHAG	1.83
173	Hypertension, essential	Enrichment	ECE1, GNB3	1.78
174	Behcet syndrome	Enrichment	C4A, IL10	1.69
175	Autosomal dominant non-syndromic intellectual disability	Enrichment	DEAF1, GRIN1, YWHAZ	1.68
176	Maturity-onset diabetes of the young	Enrichment	GCK, NEUROD1	1.65
177	Seizures, benign familial neonatal, 1	Enrichment	ATP1A3	1.63
178	Thyroid hormone resistance, selective pituitary	Enrichment	THRB	1.63
179	Atrial standstill 1	Enrichment	SCN5A	1.63
180	Progressive familial heart block, type ia	Enrichment	SCN5A	1.63
181	Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	Enrichment	GATA3	1.63
182	Maturity-onset diabetes of the young, type 1	Enrichment	GCK	1.63
183	Fibromatosis, gingival, 1	Enrichment	REST	1.63
184	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	1.63
185	Major affective disorder 1	Enrichment	TPH2	1.63
186	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.63
187	Galactosemia ii	Enrichment	NR3C1	1.63
188	Thyroid hormone resistance, generalized, autosomal dominant	Enrichment	THRB	1.63
189	Thumb deformity	Enrichment	CREBBP	1.63
190	Spinal and bulbar muscular atrophy, x-linked 1	Enrichment	AR	1.63
191	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.63
192	Encephalopathy, neonatal severe, due to mecp2 mutations	Enrichment	MECP2	1.63
193	Thyroid hormone resistance, generalized, autosomal recessive	Enrichment	THRB	1.63
194	Leukodystrophy, hypomyelinating, 4	Enrichment	HSPD1	1.63
195	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.63
196	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	PRKAR1A	1.63
197	Sick sinus syndrome 1	Enrichment	SCN5A	1.63
198	Segawa syndrome, autosomal recessive	Enrichment	TH	1.63
199	Diabetes mellitus, permanent neonatal, 1	Enrichment	GCK	1.63
200	Bone marrow failure syndrome 2	Enrichment	GCK	1.63
201	Hallermann-streiff syndrome	Enrichment	GJA1	1.63
202	Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities	Enrichment	PAH	1.63
203	Carnitine palmitoyltransferase i deficiency	Enrichment	CPT1A	1.63
204	Atrial fibrillation, familial, 10	Enrichment	SCN5A	1.63
205	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.63
206	Aromatic l-amino acid decarboxylase deficiency	Enrichment	DDC	1.63
207	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.63
208	Immunodeficiency, common variable, 10	Enrichment	NFKB2	1.63
209	Syndactyly, type iii	Enrichment	GJA1	1.63
210	Syndactyly, type v	Enrichment	GJA1	1.63
211	Diarrhea 8, secretory sodium, congenital	Enrichment	SLC9A3	1.63
212	Long qt syndrome 3	Enrichment	SCN5A	1.63
213	Sinoatrial node disease	Enrichment	SCN5A	1.63
214	Trimethylaminuria	Enrichment	FMO3	1.63
215	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.63
216	46,xy sex reversal 1	Enrichment	AR	1.63
217	Microcephaly 21, primary, autosomal recessive	Enrichment	GAPDH	1.63
218	Androgen insensitivity syndrome	Enrichment	AR	1.63
219	Menke-hennekam syndrome 2	Enrichment	EP300	1.63
220	Usher syndrome, type iv	Enrichment	PRKAR1A	1.63
221	Intellectual developmental disorder, x-linked, syndromic 13	Enrichment	MECP2	1.63
222	Thyroid hormone resistance syndrome	Enrichment	THRB	1.63
223	Hypospadias 1, x-linked	Enrichment	AR	1.63
224	Immunodeficiency 127	Enrichment	TNF	1.63
225	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.63
226	Craniometaphyseal dysplasia	Enrichment	GJA1	1.63
227	Bilateral generalized polymicrogyria	Enrichment	GRIN1	1.63
228	Intellectual developmental disorder, autosomal dominant 21	Enrichment	CTCF	1.63
229	Glycogen storage disease xii	Enrichment	ALDOA	1.63
230	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	RYR2	1.63
231	Acute basophilic leukemia	Enrichment	MYB	1.63
232	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	1.63
233	X-linked intellectual disability-psychosis-macroorchidism syndrome	Enrichment	MECP2	1.63
234	Cardiovascular system disease	Enrichment	KCNQ1	1.63
235	Vulto-van silfhout-de vries syndrome	Enrichment	DEAF1	1.63
236	Acrodysostosis	Enrichment	PRKAR1A	1.63
237	Chromosome 15q13.3 deletion syndrome	Enrichment	CHRNA7	1.63
238	Medullary thyroid carcinoma	Enrichment	RET	1.63
239	Intellectual developmental disorder, autosomal recessive 3	Enrichment	CC2D1A	1.63
240	Fibrolamellar carcinoma	Enrichment	PRKACA	1.63
241	Angiocentric glioma	Enrichment	MYB	1.63
242	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.63
243	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	Enrichment	GATA3	1.63
244	Hypoparathyroidism-deafness-renal disease syndrome	Enrichment	GATA3	1.63
245	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Enrichment	RORA	1.63
246	Primary trimethylaminuria	Enrichment	FMO3	1.63
247	9q33.3q34.11 microdeletion syndrome	Enrichment	LMX1B	1.63
248	Myasthenic syndrome, congenital, 21, presynaptic	Enrichment	CHAT	1.63
249	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.63
250	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.63
251	Autosomal dominant nonsyndromic deafness	Enrichment	GATA3	1.63
252	Posterior hypospadias	Enrichment	AR	1.63
253	Jervell-lange nielsen syndrome	Enrichment	KCNQ1	1.63
254	Isolated atrial standstill	Enrichment	SCN5A	1.63
255	Qualitative or quantitative defects of caveolin-3	Enrichment	CAV3	1.63
256	Teratoma	Enrichment	CTNNB1	1.63
257	Renal hypoplasia, bilateral	Enrichment	PBX1	1.63
258	B-lymphoblastic leukemia/lymphoma with t(17;19)	Enrichment	TCF3	1.63
259	Common variable immunodeficiency 12	Enrichment	NFKB1	1.63
260	Progressive bulbar palsy	Enrichment	MECP2	1.63
261	Bruxism	Enrichment	MECP2	1.63
262	Hepatocellular carcinoma	Enrichment	CTNNB1, RET	1.57
263	Undetermined early-onset epileptic encephalopathy	Enrichment	ATP1A3, NTRK2, YWHAG	1.56
264	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYB, TLX3	1.53
265	Desmoid disease, hereditary	Enrichment	CTNNB1	1.46
266	Laryngomalacia	Enrichment	MECP2	1.46
267	Dystonia 12	Enrichment	ATP1A3	1.46
268	Dystonia, dopa-responsive	Enrichment	TH	1.46
269	Nijmegen breakage syndrome	Enrichment	GCK	1.46
270	Cantu syndrome	Enrichment	KCNJ8	1.46
271	Sengers syndrome	Enrichment	SLC25A4	1.46
272	Myasthenic syndrome, congenital, 6, presynaptic	Enrichment	CHAT	1.46
273	Pelizaeus-merzbacher disease	Enrichment	PLP1	1.46
274	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	Enrichment	SLC9A3	1.46
275	Pituitary hormone deficiency, combined, 2	Enrichment	PAH	1.46
276	Spastic paraplegia 2, x-linked	Enrichment	PLP1	1.46
277	Rippling muscle disease 2	Enrichment	CAV3	1.46
278	Sudden infant death with dysgenesis of the testes syndrome	Enrichment	TSPYL1	1.46
279	Psoriatic arthritis	Enrichment	TNF	1.46
280	Atrial fibrillation, familial, 3	Enrichment	KCNQ1	1.46
281	Long qt syndrome 9	Enrichment	CAV3	1.46
282	Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency	Enrichment	HADHA	1.46
283	Short qt syndrome 2	Enrichment	KCNQ1	1.46
284	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.46
285	Myopathy, distal, tateyama type	Enrichment	CAV3	1.46
286	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.46
287	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	Enrichment	SPTBN1	1.46
288	Neuroblastoma 2	Enrichment	PHOX2B	1.46
289	Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation	Enrichment	KCNH2	1.46
290	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.46
291	Anus, imperforate	Enrichment	CTNNB1	1.46
292	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.46
293	Tethered spinal cord syndrome	Enrichment	CREBBP	1.46
294	Bronchopulmonary dysplasia	Enrichment	CHAT	1.46
295	Desmoid tumor	Enrichment	CTNNB1	1.46
296	Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures	Enrichment	DEAF1	1.46
297	Gingival overgrowth	Enrichment	RET	1.46
298	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.46
299	Migraine without aura	Enrichment	TNF	1.46
300	End stage renal disease	Enrichment	GATA3	1.46
301	Desmoplastic/nodular medulloblastoma	Enrichment	CTCF	1.46
302	Adenoid cystic carcinoma	Enrichment	MYB	1.46
303	Respiratory failure	Enrichment	TP73	1.46
304	Pelizeaus-merzbacher spectrum disorder	Enrichment	PLP1	1.46
305	Melanoma of soft tissue	Enrichment	CREB1	1.46
306	Enchondromatosis	Enrichment	HIF1A	1.46
307	Rasopathy	Enrichment	DDC, PAH	1.43
308	Autism spectrum disorder	Enrichment	DEAF1, MECP2, MEF2C, PBX1	1.41
309	Kaposi sarcoma	Enrichment	IL6	1.34
310	Jervell and lange-nielsen syndrome 1	Enrichment	KCNQ1	1.34
311	Small cell cancer of the lung	Enrichment	TP73	1.34
312	Glycogen storage disease ia	Enrichment	G6PC1	1.34
313	Phenylketonuria	Enrichment	PAH	1.34
314	Microphthalmia, syndromic 3	Enrichment	SOX2	1.34
315	Developmental and epileptic encephalopathy 2	Enrichment	SNAP25	1.34
316	Propionic acidemia	Enrichment	PAH	1.34
317	Maturity-onset diabetes of the young, type 3	Enrichment	GCK	1.34
318	Developmental and epileptic encephalopathy 4	Enrichment	LMX1B	1.34
319	Immunodeficiency, common variable, 1	Enrichment	NFKB2	1.34
320	Pilomatrixoma	Enrichment	CTNNB1	1.34
321	Carney complex variant	Enrichment	PRKAR1A	1.34
322	Ciliary dyskinesia, primary, 7	Enrichment	CDCA7L	1.34
323	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.34
324	Cardiomyopathy, familial hypertrophic, 26	Enrichment	KCNH2	1.34
325	Tobacco addiction	Enrichment	CHRNA4	1.34
326	Alazami syndrome	Enrichment	CTNNB1	1.34
327	Craniopharyngioma	Enrichment	CTNNB1	1.34
328	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.34
329	Pregnancy loss, recurrent 1	Enrichment	KCNQ1	1.34
330	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	Enrichment	ACADM	1.34
331	Diabetes insipidus	Enrichment	AVP	1.34
332	Hereditary progressive cardiac conduction defect	Enrichment	SCN5A	1.34
333	Cerebral malaria	Enrichment	TNF	1.34
334	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.34
335	Gingival fibromatosis	Enrichment	REST	1.34
336	Familial sick sinus syndrome	Enrichment	SCN5A	1.34
337	Familial hypertrophic cardiomyopathy	Enrichment	CAV3, KCNH2	1.24
338	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	1.24
339	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.24
340	Smith-magenis syndrome	Enrichment	DEAF1	1.24
341	Multiple endocrine neoplasia, type iia	Enrichment	RET	1.24
342	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.24
343	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.24
344	Systemic lupus erythematosus 16	Enrichment	C4A	1.24
345	Pervasive developmental disorder	Enrichment	SPTBN1	1.24
346	Cardiac arrest	Enrichment	SCN5A	1.24
347	Hypoglycemia	Enrichment	G6PC1	1.24
348	Vascular dementia	Enrichment	TNF	1.24
349	Cleft upper lip	Enrichment	GJA1	1.24
350	Endometrial stromal sarcoma	Enrichment	YWHAE	1.24
351	Rare pervasive developmental disorder	Enrichment	SPTBN1	1.24
352	Breast cancer	Enrichment	JUN, PAH, RET	1.24
353	Left ventricular noncompaction	Enrichment	RYR2, SCN5A	1.20
354	Angelman syndrome	Enrichment	MECP2	1.17
355	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.17
356	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	Enrichment	SLC25A4	1.17
357	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GCK	1.17
358	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	1.17
359	Hyperphenylalaninemia, bh4-deficient, a	Enrichment	PAH	1.17
360	Type 1 diabetes mellitus	Enrichment	IL6	1.17
361	Anxiety	Enrichment	SLC6A4	1.17
362	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	RYR2	1.17
363	Autosomal recessive intellectual developmental disorder	Enrichment	CC2D1A	1.17
364	Congenital fibrosis of the extraocular muscles	Enrichment	PHOX2A	1.17
365	Il10-related early-onset inflammatory bowel disease	Enrichment	IL10	1.17
366	Hypertrichosis	Enrichment	CREBBP	1.17
367	Kidney clear cell sarcoma	Enrichment	YWHAE	1.17
368	Nonsyndromic genetic hyperinsulinism	Enrichment	GCK	1.17
369	Childhood absence epilepsy	Enrichment	GABRA1	1.17
370	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	RET	1.17
371	Silver-russell syndrome 1	Enrichment	KCNQ1	1.10
372	Rett syndrome	Enrichment	MECP2	1.10
373	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF	1.10
374	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A	1.10
375	Gallbladder cancer	Enrichment	CTNNB1	1.10
376	Pilomyxoid astrocytoma	Enrichment	NTRK2	1.10
377	Colorectal cancer	Enrichment	CTNNB1, EP300, RET	1.08
378	Gastroesophageal reflux	Enrichment	CHAT	1.05
379	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1	1.05
380	Myopathy, tubular aggregate, 1	Enrichment	CAV3	1.05
381	Renal hypodysplasia/aplasia 1	Enrichment	RET	1.05
382	Rett syndrome, congenital variant	Enrichment	MECP2	1.05
383	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.05
384	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	RYR2	1.05
385	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	RYR2	1.05
386	Hypothyroidism	Enrichment	RET	1.05
387	Neuroblastoma	Enrichment	PHOX2B	1.05
388	Permanent neonatal diabetes mellitus	Enrichment	GCK	1.05
389	Hypoplastic left heart syndrome	Enrichment	GJA1	1.05
390	Difference of sex development	Enrichment	AR	1.05
391	Gastric cancer	Enrichment	IL1B, IL1RN	1.04
392	West syndrome	Enrichment	GRIN1, NTRK2	1.03
393	Rheumatoid arthritis	Enrichment	IL10	1.00
394	Charge syndrome	Enrichment	EP300	1.00
395	Inflammatory bowel disease 1	Enrichment	IL6	1.00
396	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.00
397	Primary hyperaldosteronism	Enrichment	NR3C1	1.00
398	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	SCN5A	1.00
399	Renal agenesis, bilateral	Enrichment	RET	1.00
400	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.95
401	Dravet syndrome	Enrichment	GABRA1	0.95
402	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	CHAT	0.95
403	Autosomal non-syndromic agammaglobulinemia	Enrichment	TCF3	0.95
404	Ovarian cancer	Enrichment	AR, CTNNB1, RET	0.94
405	Body mass index quantitative trait locus 11	Enrichment	BDNF, KCNH2	0.93
406	Epilepsy, myoclonic juvenile	Enrichment	GABRA1	0.91
407	Epilepsy, idiopathic generalized	Enrichment	GABRA1	0.91
408	Myelodysplastic syndrome	Enrichment	GATA2	0.91
409	Nanophthalmos	Enrichment	SOX2	0.91
410	46,xy complete gonadal dysgenesis	Enrichment	AR	0.91
411	Glycogen storage disease	Enrichment	G6PC1	0.91
412	Diabetes mellitus	Enrichment	GCK	0.91
413	Mitochondrial myopathy	Enrichment	SLC25A4	0.91
414	Specific learning disability	Enrichment	YWHAG	0.91
415	Ciliopathy	Enrichment	CC2D1A	0.91
416	Congenital nervous system abnormality	Enrichment	CREBBP, CTNNB1, MECP2	0.89
417	Nervous system disease	Enrichment	CREBBP, CTNNB1, MECP2	0.89
418	Epicanthus	Enrichment	ATP1A3	0.88
419	Septooptic dysplasia	Enrichment	SOX2	0.88
420	Renal hypodysplasia/aplasia 3	Enrichment	RET	0.88
421	Lactic acidosis	Enrichment	CHAT	0.88
422	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2	0.88
423	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2	0.88
424	Myeloma, multiple	Enrichment	CREBBP, TCF3	0.85
425	Pulmonary hypertension, primary, 1	Enrichment	PAH	0.85
426	Pulmonary disease, chronic obstructive	Enrichment	CHRNB4	0.85
427	Acute promyelocytic leukemia	Enrichment	PRKAR1A	0.85
428	Alzheimer's disease	Enrichment	TNF	0.85
429	Autosomal recessive non-syndromic intellectual disability	Enrichment	CC2D1A, GRIN1	0.83
430	Medulloblastoma	Enrichment	CTNNB1	0.82
431	Pheochromocytoma	Enrichment	RET	0.82
432	Heart disease	Enrichment	CREBBP	0.82
433	Congenital myasthenic syndrome	Enrichment	CHAT	0.82
434	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	RYR2	0.82
435	Polydactyly, postaxial, type a1	Enrichment	EP300	0.79
436	Wilms tumor 1	Enrichment	REST	0.79
437	Corpus callosum, agenesis of	Enrichment	CREBBP	0.79
438	Myopia	Enrichment	SLC25A4	0.79
439	Isolated corpus callosum agenesis	Enrichment	CREBBP	0.79
440	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	0.79
441	Creatine phosphokinase, elevated serum	Enrichment	CAV3	0.76
442	Hydrocephalus, congenital, 1	Enrichment	ATP1A3	0.76
443	Isolated elevated serum creatine phosphokinase levels	Enrichment	CAV3	0.76
444	Cardiomyopathy, dilated, 1e	Enrichment	SCN5A	0.74
445	Polycystic liver disease	Enrichment	CTNNB1	0.74
446	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.74
447	Beckwith-wiedemann syndrome	Enrichment	KCNQ1	0.72
448	Human immunodeficiency virus type 1	Enrichment	IL10	0.72
449	Early infantile developmental and epileptic encephalopathy	Enrichment	GRIN1	0.72
450	Arteriovenous malformations of the brain	Enrichment	IL6	0.70
451	Diffuse large b-cell lymphoma	Enrichment	CREBBP	0.70
452	Inherited cancer-predisposing syndrome	Enrichment	PHOX2B, PRKAR1A, RET	0.70
453	Macs syndrome	Enrichment	SOX2	0.68
454	Leukodystrophy	Enrichment	HSPD1	0.68
455	Hepatoblastoma	Enrichment	CTNNB1	0.66
456	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	RET	0.66
457	Primary ciliary dyskinesia	Enrichment	CDCA7L, PRKAR1B	0.65
458	Attention deficit-hyperactivity disorder	Enrichment	MECP2	0.64
459	Microphthalmia	Enrichment	SOX2	0.64
460	Malaria	Enrichment	TNF	0.62
461	Congenital stationary night blindness	Enrichment	GNB3	0.62
462	Ear malformation	Enrichment	KCNQ1	0.61
463	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CAV3	0.61
464	Autoinflammatory disease	Enrichment	IL1RN	0.61
465	Scoliosis	Enrichment	CREBBP	0.61
466	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1	0.59
467	Tetralogy of fallot	Enrichment	RET	0.58
468	Auditory neuropathy	Enrichment	PLP1	0.58
469	Bladder cancer	Enrichment	CTNNB1	0.54
470	Prostate cancer	Enrichment	AR	0.54
471	Differentiated thyroid carcinoma	Enrichment	RET	0.54
472	Visceral heterotaxy 5	Enrichment	CDCA7L	0.51
473	Cystic fibrosis	Enrichment	SLC9A3	0.50
474	Peripheral nervous system disease	Enrichment	NGF	0.50
475	Neuropathy	Enrichment	NGF	0.50
476	Male infertility	Enrichment	AR	0.48
477	Cakut	Enrichment	GATA3	0.48
478	Non-syndromic x-linked intellectual disability	Enrichment	MECP2	0.46
479	Developmental and epileptic encephalopathy	Enrichment	SNAP25	0.46
480	Fetal akinesia deformation sequence 1	Enrichment	SCN5A	0.45
481	Cerebral palsy	Enrichment	CC2D1A	0.43
482	Leukemia, acute myeloid	Enrichment	GATA2	0.42
483	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN1	0.42
484	Distal arthrogryposis	Enrichment	SCN5A	0.41
485	Hereditary spastic paraplegia	Enrichment	PLP1	0.41
486	Centralopathic epilepsy	Enrichment	GRIN1	0.40
487	Nephrotic syndrome	Enrichment	LMX1B	0.40
488	Hypertrophic cardiomyopathy	Enrichment	SLC25A4	0.40
489	Optic atrophy plus syndrome	Enrichment	SNAP25	0.39
490	Hereditary breast carcinoma	Enrichment	RET	0.39
491	Complex neurodevelopmental disorder	Enrichment	RORA, SPTBN1	0.37
492	Sensorineural hearing loss	Enrichment	RET	0.36
493	Hypertelorism	Enrichment	RET	0.34
494	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	REST	0.34
495	Familial isolated dilated cardiomyopathy	Enrichment	SCN5A	0.33
496	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	AR	0.32
497	Schizophrenia	Enrichment	HTR2A	0.30
498	Rare genetic deafness	Enrichment	KCNQ1	0.22
499	Dilated cardiomyopathy	Enrichment	SCN5A	0.21
500	Mitochondrial disease	Enrichment	SLC25A4	0.19
501	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	GJA1	0.19
502	Hereditary retinal dystrophy	Enrichment	NEUROD1	0.01
503	Fundus dystrophy	Enrichment	NEUROD1	0.01

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

Sudden infant death syndrome (SIDS) susceptibility pathways

Pathway Network for Sudden infant death syndrome (SIDS) susceptibility pathways

Member Pathways for Sudden infant death syndrome (SIDS) susceptibility pathways

Pathways in the Sudden infant death syndrome (SIDS) susceptibility pathways SuperPath

Associated Genes for Sudden infant death syndrome (SIDS) susceptibility pathways

Associated Disorders for Sudden infant death syndrome (SIDS) susceptibility pathways

Disorders associated with Sudden infant death syndrome (SIDS) susceptibility pathways SuperPath

STRING Interaction Network for Sudden infant death syndrome (SIDS) susceptibility pathways

Sources for Sudden infant death syndrome (SIDS) susceptibility pathways