Neuroscience

No Pathway Network information available for Neuroscience

Pathways in the Neuroscience SuperPath

#	Name	Source	Genes
1	Neuroscience	Cell Signaling Technology	ADAM17 ADRB1 ADRB2 AGT AGTPBP1 AMBRA1 ANO1 ANPEP APBA2 APBB1 APEX1 APOE APP ARC ARFGAP1 ARHGAP26 ATP13A2 ATXN1 AVP BACE1 BIN1 BMAL1 BRSK1 BRSK2 BSN CA2 CACNG2 CALB1 CALCA CALM1 CALR CAMK1D CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CAMKK2 CAPN1 CAPN2 CARTPT CASK CAST CDC20 CDK5 CDK5R1 CDK5R2 CEND1 CHN2 CIRBP CLCN3 CLIC1 CLPP CLU CNP CNR1 CNTN2 CNTNAP1 CNTNAP2 COMT CPLX1 CPLX2 CREB1 CSNK1D CSNK1E CSPG4 CST3 CTSB CXCR4 DAB1 DAGLA DAGLB DBH DBN1 DCBLD2 DCLK1 DCTN1 DCX DDC DLG2 DLG3 DLG4 DLGAP1 DLST DPYSL2 DTNBP1 DYRK1A DYRK1B EGR1 EGR3 ENAH ENO2 EPHB2 FABP7 FBXO7 FEZ1 FMR1 FOSB FRMD6 FXR1 FXR2 GAB2 GABBR1 GABBR2 GAD1 GAD2 GAP43 GAPDH GFAP GGA3 GIT1 GLUD1 GNA11 GNAO1 GNAQ GNAZ GNB3 GPHN GPR37 GPR37L1 GPR50 GPRC5A GRIA1 GRIA2 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2B GRK2 GRK3 GRM1 GRM2 GRM5 GSK3A GSK3B GSTP1 HCN2 HCRT HOMER1 HTR1A HTR4 HTT ITGAM ITPR1 KCND2 KCNJ6 KCNQ2 KCTD12 KISS1R L1CAM LINGO1 LMO4 LRP1 LRRC8A LRRK2 MAG MAP2 MAPK7 MAPT MARK2 MBP MECP2 MEF2A MELK MKI67 MSI1 MSX1 MYCN NACC1 NCAM1 NCS1 NCSTN NDRG1 NEFH NEFL NEFM NEO1 NEUROD1 NEUROG2 NF1 NF2 NFASC NGF NGFR NHERF1 NHERF2 NIPSNAP1 NKX2-1 NKX2-2 NOS1 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NPY NR1D1 NRP1 NRP2 NSF NT5E NTRK1 NTRK2 NTRK3 NUMB OPHN1 OPRM1 OPTN P2RX4 P2RX7 PAFAH1B1 PANK4 PARK7 PCSK1 PCSK2 PCSK9 PDE4B PICK1 PINK1 PJA2 PLXNA1 PLXNA2 PLXNA3 PLXNA4 POMC POU3F2 PPFIBP1 PPP1R1B PPP1R9B PRKACA PRKAR1A PRKAR1B PRKN PRNP PSEN1 PSEN2 PSENEN PSIP1 PTGS1 PTGS2 PTPN1 PTPN5 RAI2 RANBP9 RASD1 RBFOX3 RET RGS4 RHO RIPK1 RPS27A RTN4 S100B SAG SCGN SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN4A SCN5A SCN7A SCN8A SCN9A SEMA3B SEMA4B SH3GL2 SHANK2 SHANK3 SHTN1 SIGMAR1 SLC12A1 SLC12A2 SLC12A5 SLC17A6 SLC17A7 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC25A12 SLC4A1 SNAP25 SNCA SNCB SOD1 SORL1 SRCIN1 SRR SSTR1 STIP1 STOML2 STX1A STXBP1 SV2A SYN1 SYN2 SYNGAP1 SYP SYT1 TARDBP TBR1 TFAM TFAP2A TFAP2B TH THY1 TMED10 TNC TOMM20 TOR1A TPH1 TPH2 TRAP1 TREM2 TRPC3 TRPC6 TRPV3 TUBA1B TUBB TUBB3 UBA52 UBB UBC UBE2K UBQLN1 UCHL1 UCHL3 ULK1 UNC5B USP14 VAMP1 VAMP2 VAMP3 VIP VPS29 VSNL1 VTI1A WFS1 (see all 341) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	HTR1A	5-Hydroxytryptamine Receptor 1A	Protein Coding	1
2	HTR4	5-Hydroxytryptamine Receptor 4	Protein Coding	1
3	ADRB1	Adrenoceptor Beta 1	Protein Coding	1
4	ADRB2	Adrenoceptor Beta 2	Protein Coding	1
5	AMBRA1	Autophagy And Beclin 1 Regulator 1	Protein Coding	1
6	AGT	Angiotensinogen	Protein Coding	1
7	ANO1	Anoctamin 1	Protein Coding	1
8	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	1
9	TFAP2B	Transcription Factor AP-2 Beta	Protein Coding	1
10	APBA2	Amyloid Beta Precursor Protein Binding Family A Member 2	Protein Coding	1
11	APEX1	Apurinic/Apyrimidinic Endodeoxyribonuclease 1	Protein Coding	1
12	APOE	Apolipoprotein E	Protein Coding	1
13	APP	Amyloid Beta Precursor Protein	Protein Coding	1
14	ARFGAP1	ARF GTPase Activating Protein 1	Protein Coding	1
15	ARC	Activity Regulated Cytoskeleton Associated Protein	Protein Coding	1
16	ARHGAP26	Rho GTPase Activating Protein 26	Protein Coding	1
17	CHN2	Chimerin 2	Protein Coding	1
18	ATXN1	Ataxin 1	Protein Coding	1
19	ATP13A2	ATPase Cation Transporting 13A2	Protein Coding	1
20	AVP	Arginine Vasopressin	Protein Coding	1
21	BACE1	Beta-Secretase 1	Protein Coding	1
22	BIN1	Bridging Integrator 1	Protein Coding	1
23	BMAL1	Basic Helix-Loop-Helix ARNT Like 1	Protein Coding	1
24	BRSK1	BR Serine/Threonine Kinase 1	Protein Coding	1
25	BRSK2	BR Serine/Threonine Kinase 2	Protein Coding	1
26	BSN	Bassoon Presynaptic Cytomatrix Protein	Protein Coding	1
27	CA2	Carbonic Anhydrase 2	Protein Coding	1
28	CALB1	Calbindin 1	Protein Coding	1
29	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	1
30	CALM1	Calmodulin 1	Protein Coding	1
31	CAST	Calpastatin	Protein Coding	1
32	CALR	Calreticulin	Protein Coding	1
33	CAMK1D	Calcium/Calmodulin Dependent Protein Kinase ID	Protein Coding	1
34	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
35	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	1
36	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	1
37	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	1
38	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	1
39	CAMKK2	Calcium/Calmodulin Dependent Protein Kinase Kinase 2	Protein Coding	1
40	CAPN1	Calpain 1	Protein Coding	1
41	CAPN2	Calpain 2	Protein Coding	1
42	CARTPT	CART Prepropeptide	Protein Coding	1
43	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	1
44	ANPEP	Alanyl Aminopeptidase, Membrane	Protein Coding	1
45	CDC20	Cell Division Cycle 20	Protein Coding	1
46	CDK5	Cyclin Dependent Kinase 5	Protein Coding	1
47	CDK5R1	Cyclin Dependent Kinase 5 Regulatory Subunit 1	Protein Coding	1
48	CDK5R2	Cyclin Dependent Kinase 5 Regulatory Subunit 2	Protein Coding	1
49	CEND1	Cell Cycle Exit And Neuronal Differentiation 1	Protein Coding	1
50	CIRBP	Cold Inducible RNA Binding Protein	Protein Coding	1
51	CSNK1D	Casein Kinase 1 Delta	Protein Coding	1
52	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	1
53	CLCN3	Chloride Voltage-Gated Channel 3	Protein Coding	1
54	CLIC1	Chloride Intracellular Channel 1	Protein Coding	1
55	CLPP	Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit	Protein Coding	1
56	CLU	Clusterin	Protein Coding	1
57	CNP	2'''',3''''-Cyclic Nucleotide 3'''' Phosphodiesterase	Protein Coding	1
58	CNR1	Cannabinoid Receptor 1	Protein Coding	1
59	CNTN2	Contactin 2	Protein Coding	1
60	CNTNAP1	Contactin Associated Protein 1	Protein Coding	1
61	CNTNAP2	Contactin Associated Protein 2	Protein Coding	1
62	COMT	Catechol-O-Methyltransferase	Protein Coding	1
63	PTGS1	Prostaglandin-Endoperoxide Synthase 1	Protein Coding	1
64	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	1
65	CPLX1	Complexin 1	Protein Coding	1
66	CPLX2	Complexin 2	Protein Coding	1
67	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
68	DPYSL2	Dihydropyrimidinase Like 2	Protein Coding	1
69	CST3	Cystatin C	Protein Coding	1
70	CTSB	Cathepsin B	Protein Coding	1
71	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	1
72	DAB1	DAB Adaptor Protein 1	Protein Coding	1
73	DAGLB	Diacylglycerol Lipase Beta	Protein Coding	1
74	PPP1R1B	Protein Phosphatase 1 Regulatory Inhibitor Subunit 1B	Protein Coding	1
75	DBH	Dopamine Beta-Hydroxylase	Protein Coding	1
76	DBN1	Drebrin 1	Protein Coding	1
77	DCLK1	Doublecortin Like Kinase 1	Protein Coding	1
78	DCBLD2	Discoidin, CUB And LCCL Domain Containing 2	Protein Coding	1
79	DDC	Dopa Decarboxylase	Protein Coding	1
80	PARK7	Parkinsonism Associated Deglycase	Protein Coding	1
81	DLG3	Discs Large MAGUK Scaffold Protein 3	Protein Coding	1
82	DLST	Dihydrolipoamide S-Succinyltransferase	Protein Coding	1
83	DCX	Doublecortin	Protein Coding	1
84	DTNBP1	Dystrobrevin Binding Protein 1	Protein Coding	1
85	DCTN1	Dynactin Subunit 1	Protein Coding	1
86	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	1
87	DYRK1B	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1B	Protein Coding	1
88	EGR1	Early Growth Response 1	Protein Coding	1
89	EGR3	Early Growth Response 3	Protein Coding	1
90	SH3GL2	SH3 Domain Containing GRB2 Like 2, Endophilin A1	Protein Coding	1
91	ENO2	Enolase 2	Protein Coding	1
92	EPHB2	EPH Receptor B2	Protein Coding	1
93	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
94	FABP7	Fatty Acid Binding Protein 7	Protein Coding	1
95	FBXO7	F-Box Protein 7	Protein Coding	1
96	APBB1	Amyloid Beta Precursor Protein Binding Family B Member 1	Protein Coding	1
97	FEZ1	Fasciculation And Elongation Protein Zeta 1	Protein Coding	1
98	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	1
99	FOSB	FosB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
100	NCS1	Neuronal Calcium Sensor 1	Protein Coding	1
101	FRMD6	FERM Domain Containing 6	Protein Coding	1
102	FXR1	FMR1 Autosomal Homolog 1	Protein Coding	1
103	FXR2	FMR1 Autosomal Homolog 2	Protein Coding	1
104	GNA11	G Protein Subunit Alpha 11	Protein Coding	1
105	GNAO1	G Protein Subunit Alpha O1	Protein Coding	1
106	GNAQ	G Protein Subunit Alpha Q	Protein Coding	1
107	GNAZ	G Protein Subunit Alpha Z	Protein Coding	1
108	GNB3	G Protein Subunit Beta 3	Protein Coding	1
109	GAB2	GRB2 Associated Binding Protein 2	Protein Coding	1
110	GABBR1	Gamma-Aminobutyric Acid Type B Receptor Subunit 1	Protein Coding	1
111	GABBR2	Gamma-Aminobutyric Acid Type B Receptor Subunit 2	Protein Coding	1
112	GAD2	Glutamate Decarboxylase 2	Protein Coding	1
113	GAD1	Glutamate Decarboxylase 1	Protein Coding	1
114	GAP43	Growth Associated Protein 43	Protein Coding	1
115	GAPDH	Glyceraldehyde-3-Phosphate Dehydrogenase	Protein Coding	1
116	GPHN	Gephyrin	Protein Coding	1
117	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	1
118	GGA3	Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 3	Protein Coding	1
119	KCNJ6	Potassium Inwardly Rectifying Channel Subfamily J Member 6	Protein Coding	1
120	GIT1	GIT ArfGAP 1	Protein Coding	1
121	SLC1A2	Solute Carrier Family 1 Member 2	Protein Coding	1
122	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	1
123	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	1
124	GRIA2	Glutamate Ionotropic Receptor AMPA Type Subunit 2	Protein Coding	1
125	GRIA3	Glutamate Ionotropic Receptor AMPA Type Subunit 3	Protein Coding	1
126	GRIA4	Glutamate Ionotropic Receptor AMPA Type Subunit 4	Protein Coding	1
127	GPR37	G Protein-Coupled Receptor 37	Protein Coding	1
128	GPR37L1	G Protein-Coupled Receptor 37 Like 1	Protein Coding	1
129	GPR50	G Protein-Coupled Receptor 50	Protein Coding	1
130	GRK2	G Protein-Coupled Receptor Kinase 2	Protein Coding	1
131	GRK3	G Protein-Coupled Receptor Kinase 3	Protein Coding	1
132	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	1
133	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
134	GSTP1	Glutathione S-Transferase Pi 1	Protein Coding	1
135	HCN2	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium And Sodium Channel 2	Protein Coding	1
136	HCRT	Hypocretin Neuropeptide Precursor	Protein Coding	1
137	HOMER1	Homer Scaffold Protein 1	Protein Coding	1
138	TRAP1	TNF Receptor Associated Protein 1	Protein Coding	1
139	HTT	Huntingtin	Protein Coding	1
140	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
141	ITGAM	Integrin Subunit Alpha M	Protein Coding	1
142	SLC12A5	Solute Carrier Family 12 Member 5	Protein Coding	1
143	KCTD12	Potassium Channel Tetramerization Domain Containing 12	Protein Coding	1
144	MKI67	Marker Of Proliferation Ki-67	Protein Coding	1
145	KISS1R	KISS1 Receptor	Protein Coding	1
146	KCND2	Potassium Voltage-Gated Channel Subfamily D Member 2	Protein Coding	1
147	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	1
148	PSIP1	PC4 And SRSF1 Interacting Protein 1	Protein Coding	1
149	LINGO1	Leucine Rich Repeat And Ig Domain Containing 1	Protein Coding	1
150	PPFIBP1	PPFIB Scaffold Protein 1	Protein Coding	1
151	LMO4	LIM Domain Only 4	Protein Coding	1
152	LRP1	LDL Receptor Related Protein 1	Protein Coding	1
153	LRRC8A	Leucine Rich Repeat Containing 8 VRAC Subunit A	Protein Coding	1
154	LRRK2	Leucine Rich Repeat Kinase 2	Protein Coding	1
155	MAG	Myelin Associated Glycoprotein	Protein Coding	1
156	MAP2	Microtubule Associated Protein 2	Protein Coding	1
157	MARK2	Microtubule Affinity Regulating Kinase 2	Protein Coding	1
158	MBP	Myelin Basic Protein	Protein Coding	1
159	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	1
160	MEF2A	Myocyte Enhancer Factor 2A	Protein Coding	1
161	MELK	Maternal Embryonic Leucine Zipper Kinase	Protein Coding	1
162	ENAH	ENAH Actin Regulator	Protein Coding	1
163	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	1
164	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	1
165	GRM2	Glutamate Metabotropic Receptor 2	Protein Coding	1
166	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	1
167	OPRM1	Opioid Receptor Mu 1	Protein Coding	1
168	MSX1	Msh Homeobox 1	Protein Coding	1
169	MSI1	Musashi RNA Binding Protein 1	Protein Coding	1
170	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
171	NACC1	Nucleus Accumbens Associated 1	Protein Coding	1
172	L1CAM	L1 Cell Adhesion Molecule	Protein Coding	1
173	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	1
174	NDRG1	N-Myc Downstream Regulated 1	Protein Coding	1
175	NEO1	Neogenin 1	Protein Coding	1
176	RBFOX3	RNA Binding Fox-1 Homolog 3	Protein Coding	1
177	NEUROD1	Neuronal Differentiation 1	Protein Coding	1
178	NFASC	Neurofascin	Protein Coding	1
179	NEUROG2	Neurogenin 2	Protein Coding	1
180	NF1	Neurofibromin 1	Protein Coding	1
181	NEFH	Neurofilament Heavy Chain	Protein Coding	1
182	NEFL	Neurofilament Light Chain	Protein Coding	1
183	NEFM	Neurofilament Medium Chain	Protein Coding	1
184	CSPG4	Chondroitin Sulfate Proteoglycan 4	Protein Coding	1
185	NGF	Nerve Growth Factor	Protein Coding	1
186	NGFR	Nerve Growth Factor Receptor	Protein Coding	1
187	NHERF1	NHERF Family PDZ Scaffold Protein 1	Protein Coding	1
188	NHERF2	NHERF Family PDZ Scaffold Protein 2	Protein Coding	1
189	NCSTN	Nicastrin	Protein Coding	1
190	NIPSNAP1	Nipsnap Homolog 1	Protein Coding	1
191	SLC12A2	Solute Carrier Family 12 Member 2	Protein Coding	1
192	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	1
193	NKX2-1	NK2 Homeobox 1	Protein Coding	1
194	NKX2-2	NK2 Homeobox 2	Protein Coding	1
195	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
196	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	1
197	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	1
198	AGTPBP1	ATP/GTP Binding Carboxypeptidase 1	Protein Coding	1
199	NOS1	Nitric Oxide Synthase 1	Protein Coding	1
200	RTN4	Reticulon 4	Protein Coding	1
201	NOTCH1	Notch Receptor 1	Protein Coding	1
202	NOTCH2	Notch Receptor 2	Protein Coding	1
203	NOTCH3	Notch Receptor 3	Protein Coding	1
204	NOTCH4	Notch Receptor 4	Protein Coding	1
205	NPY	Neuropeptide Y	Protein Coding	1
206	NR1D1	Nuclear Receptor Subfamily 1 Group D Member 1	Protein Coding	1
207	NRP1	Neuropilin 1	Protein Coding	1
208	NRP2	Neuropilin 2	Protein Coding	1
209	DAGLA	Diacylglycerol Lipase Alpha	Protein Coding	1
210	NSF	N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase	Protein Coding	1
211	NT5E	5''-Nucleotidase Ecto	Protein Coding	1
212	NUMB	NUMB Endocytic Adaptor Protein	Protein Coding	1
213	POU3F2	POU Class 3 Homeobox 2	Protein Coding	1
214	OPHN1	Oligophrenin 1	Protein Coding	1
215	OPTN	Optineurin	Protein Coding	1
216	P2RX4	Purinergic Receptor P2X 4	Protein Coding	1
217	P2RX7	Purinergic Receptor P2X 7	Protein Coding	1
218	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	1
219	PANK4	Pantothenate Kinase 4 (Inactive)	Protein Coding	1
220	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	1
221	PCSK1	Proprotein Convertase Subtilisin/Kexin Type 1	Protein Coding	1
222	PCSK2	Proprotein Convertase Subtilisin/Kexin Type 2	Protein Coding	1
223	PCSK9	Proprotein Convertase Subtilisin/Kexin Type 9	Protein Coding	1
224	PDE4B	Phosphodiesterase 4B	Protein Coding	1
225	PICK1	Protein Interacting With PRKCA 1	Protein Coding	1
226	PINK1	PTEN Induced Kinase 1	Protein Coding	1
227	PJA2	Praja Ring Finger Ubiquitin Ligase 2	Protein Coding	1
228	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
229	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
230	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
231	PLXNA1	Plexin A1	Protein Coding	1
232	PLXNA2	Plexin A2	Protein Coding	1
233	PLXNA3	Plexin A3	Protein Coding	1
234	PLXNA4	Plexin A4	Protein Coding	1
235	POMC	Proopiomelanocortin	Protein Coding	1
236	PRNP	Prion Protein (Kanno Blood Group)	Protein Coding	1
237	DLG2	Discs Large MAGUK Scaffold Protein 2	Protein Coding	1
238	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	1
239	PSEN1	Presenilin 1	Protein Coding	1
240	PSEN2	Presenilin 2	Protein Coding	1
241	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	1
242	PTPN1	Protein Tyrosine Phosphatase Non-Receptor Type 1	Protein Coding	1
243	RAI2	Retinoic Acid Induced 2	Protein Coding	1
244	GPRC5A	G Protein-Coupled Receptor Class C Group 5 Member A	Protein Coding	1
245	RANBP9	RAN Binding Protein 9	Protein Coding	1
246	RASD1	Ras Related Dexamethasone Induced 1	Protein Coding	1
247	RET	Ret Proto-Oncogene	Protein Coding	1
248	RGS4	Regulator Of G Protein Signaling 4	Protein Coding	1
249	RHO	Rhodopsin	Protein Coding	1
250	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	1
251	RPS27A	Ribosomal Protein S27a	Protein Coding	1
252	S100B	S100 Calcium Binding Protein B	Protein Coding	1
253	SAG	S-Antigen Visual Arrestin	Protein Coding	1
254	DLGAP1	DLG Associated Protein 1	Protein Coding	1
255	SCGN	Secretagogin, EF-Hand Calcium Binding Protein	Protein Coding	1
256	SCN10A	Sodium Voltage-Gated Channel Alpha Subunit 10	Protein Coding	1
257	SCN11A	Sodium Voltage-Gated Channel Alpha Subunit 11	Protein Coding	1
258	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	1
259	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	1
260	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	1
261	SCN2B	Sodium Voltage-Gated Channel Beta Subunit 2	Protein Coding	1
262	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	1
263	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	1
264	SCN7A	Sodium Voltage-Gated Channel Alpha Subunit 7	Protein Coding	1
265	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	1
266	SCN9A	Sodium Voltage-Gated Channel Alpha Subunit 9	Protein Coding	1
267	SEMA3B	Semaphorin 3B	Protein Coding	1
268	SEMA4B	Semaphorin 4B	Protein Coding	1
269	SHANK2	SH3 And Multiple Ankyrin Repeat Domains 2	Protein Coding	1
270	SHANK3	SH3 And Multiple Ankyrin Repeat Domains 3	Protein Coding	1
271	SHTN1	Shootin 1	Protein Coding	1
272	SIGMAR1	Sigma Non-Opioid Intracellular Receptor 1	Protein Coding	1
273	SLC17A6	Solute Carrier Family 17 Member 6	Protein Coding	1
274	SLC17A7	Solute Carrier Family 17 Member 7	Protein Coding	1
275	SLC1A1	Solute Carrier Family 1 Member 1	Protein Coding	1
276	SLC1A3	Solute Carrier Family 1 Member 3	Protein Coding	1
277	SLC1A4	Solute Carrier Family 1 Member 4	Protein Coding	1
278	SLC25A12	Solute Carrier Family 25 Member 12	Protein Coding	1
279	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	1
280	STOML2	Stomatin Like 2	Protein Coding	1
281	SNAP25	Synaptosome Associated Protein 25	Protein Coding	1
282	SNCA	Synuclein Alpha	Protein Coding	1
283	SNCB	Synuclein Beta	Protein Coding	1
284	SRCIN1	SRC Kinase Signaling Inhibitor 1	Protein Coding	1
285	SOD1	Superoxide Dismutase 1	Protein Coding	1
286	SORL1	Sortilin Related Receptor 1	Protein Coding	1
287	PPP1R9B	Protein Phosphatase 1 Regulatory Subunit 9B	Protein Coding	1
288	SRR	Serine Racemase	Protein Coding	1
289	SSTR1	Somatostatin Receptor 1	Protein Coding	1
290	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	1
291	PTPN5	Protein Tyrosine Phosphatase Non-Receptor Type 5	Protein Coding	1
292	STIP1	Stress Induced Phosphoprotein 1	Protein Coding	1
293	STX1A	Syntaxin 1A	Protein Coding	1
294	STXBP1	Syntaxin Binding Protein 1	Protein Coding	1
295	SV2A	Synaptic Vesicle Glycoprotein 2A	Protein Coding	1
296	SYN1	Synapsin I	Protein Coding	1
297	SYN2	Synapsin II	Protein Coding	1
298	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	1
299	SYP	Synaptophysin	Protein Coding	1
300	SYT1	Synaptotagmin 1	Protein Coding	1
301	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	1
302	MAPT	Microtubule Associated Protein Tau	Protein Coding	1
303	TBR1	T-Box Brain Transcription Factor 1	Protein Coding	1
304	TARDBP	TAR DNA Binding Protein	Protein Coding	1
305	TFAM	Transcription Factor A, Mitochondrial	Protein Coding	1
306	TH	Tyrosine Hydroxylase	Protein Coding	1
307	THY1	Thy-1 Cell Surface Antigen	Protein Coding	1
308	TMED10	Transmembrane P24 Trafficking Protein 10	Protein Coding	1
309	TNC	Tenascin C	Protein Coding	1
310	TOMM20	Translocase Of Outer Mitochondrial Membrane 20	Protein Coding	1
311	TOR1A	Torsin Family 1 Member A	Protein Coding	1
312	TPH1	Tryptophan Hydroxylase 1	Protein Coding	1
313	TPH2	Tryptophan Hydroxylase 2	Protein Coding	1
314	TREM2	Triggering Receptor Expressed On Myeloid Cells 2	Protein Coding	1
315	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	1
316	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
317	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	1
318	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	1
319	TRPC6	Transient Receptor Potential Cation Channel Subfamily C Member 6	Protein Coding	1
320	TRPV3	Transient Receptor Potential Cation Channel Subfamily V Member 3	Protein Coding	1
321	TUBA1B	Tubulin Alpha 1b	Protein Coding	1
322	TUBB	Tubulin Beta Class I	Protein Coding	1
323	TUBB3	Tubulin Beta 3 Class III	Protein Coding	1
324	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	1
325	UBB	Ubiquitin B	Protein Coding	1
326	UBC	Ubiquitin C	Protein Coding	1
327	UBE2K	Ubiquitin Conjugating Enzyme E2 K	Protein Coding	1
328	UBQLN1	Ubiquilin 1	Protein Coding	1
329	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	1
330	UCHL3	Ubiquitin C-Terminal Hydrolase L3	Protein Coding	1
331	ULK1	Unc-51 Like Autophagy Activating Kinase 1	Protein Coding	1
332	UNC5B	Unc-5 Netrin Receptor B	Protein Coding	1
333	USP14	Ubiquitin Specific Peptidase 14	Protein Coding	1
334	VAMP1	Vesicle Associated Membrane Protein 1	Protein Coding	1
335	VAMP2	Vesicle Associated Membrane Protein 2	Protein Coding	1
336	VAMP3	Vesicle Associated Membrane Protein 3	Protein Coding	1
337	VIP	Vasoactive Intestinal Peptide	Protein Coding	1
338	VPS29	VPS29 Retromer Complex Component	Protein Coding	1
339	VSNL1	Visinin Like 1	Protein Coding	1
340	VTI1A	Vesicle Transport Through Interaction With T-SNAREs 1A	Protein Coding	1
341	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	1

Disorders associated with Neuroscience SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	West syndrome	Enrichment	CSNK1E, GNAO1, GRIA3, GRIN1, GRIN2B, KCNQ2, NTRK2, SCN1A, SCN2A, SCN8A, SLC25A12, STXBP1	9.25
2	Autosomal dominant non-syndromic intellectual disability	Enrichment	BRSK2, CACNG2, CAMK2A, CAMK2B, DPYSL2, GABBR1, GRIA1, GRIN1, GRIN2B, KCNQ2, SCN8A	7.47
3	Early-onset parkinson's disease	Enrichment	LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1	6.71
4	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF, NTRK1, SCN10A, SCN11A, SCN9A	6.71
5	Early-onset autosomal dominant alzheimer disease	Enrichment	APP, PSEN1, PSEN2, SORL1, TREM2	6.71
6	Developmental and epileptic encephalopathy 1	Enrichment	CSNK1E, GNAO1, GRIN1, KCNQ2, SCN1A, SCN8A, SLC25A12	5.71
7	Developmental and epileptic encephalopathy	Enrichment	GNAO1, GRIA3, KCNQ2, SCN1A, SCN2A, SCN8A, SNAP25, STXBP1	5.62
8	Epilepsy	Enrichment	BSN, GRIN2A, GRIN2B, MECP2, SCN1A, SCN2A, SCN8A, SYN1	5.25
9	Benign epilepsy with centrotemporal spikes	Enrichment	CNTNAP2, GRIN1, GRIN2A, RBFOX3, SCN1A, SCN1B, SCN2A, SCN9A	5.17
10	Centralopathic epilepsy	Enrichment	CNTNAP2, GRIN1, GRIN2A, RBFOX3, SCN1A, SCN1B, SCN2A, SCN9A	5.01
11	Focal epilepsy	Enrichment	MECP2, SCN2A, SCN8A, SNAP25	4.89
12	Complex neurodevelopmental disorder	Enrichment	CLCN3, CNTN2, DLG4, DYRK1A, GRIA4, GRIN2B, HTT, PLXNA1, SCN2A, SCN8A, SHANK2, SYNGAP1, TBR1	4.85
13	Alzheimer disease 4	Enrichment	APOE, PSEN1, PSEN2	4.80
14	Hereditary sodium channelopathy-related small fibers neuropathy	Enrichment	SCN10A, SCN11A, SCN9A	4.80
15	Autism spectrum disorder	Enrichment	CNTNAP2, DYRK1A, GRIA1, GRIN2B, MARK2, MECP2, NF1, PRKN, SCN2A, SHANK2, SHANK3, STXBP1	4.73
16	Developmental and epileptic encephalopathy 14	Enrichment	KCNQ2, SCN1A, SCN2A, SLC12A5	4.35
17	Erythermalgia, primary	Enrichment	SCN10A, SCN11A, SCN9A	4.21
18	Early infantile developmental and epileptic encephalopathy	Enrichment	CASK, GNAO1, GRIN1, SCN1B, SCN2A	4.20
19	Dravet syndrome	Enrichment	SCN1A, SCN1B, SCN2A, SCN9A	4.14
20	Autism	Enrichment	CAMK2G, CNTNAP2, MECP2, PRKN, SCN1A, SCN2A, SCN8A, STX1A, STXBP1	4.12
21	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	DCTN1, MAPT, NEFH, OPTN, PSEN1, SOD1, TARDBP, TREM2	4.03
22	Frontotemporal dementia 1	Enrichment	DCTN1, MAPT, PSEN1, TREM2	3.95
23	Paroxysmal extreme pain disorder	Enrichment	SCN10A, SCN11A, SCN9A	3.82
24	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	Enrichment	OPTN, SOD1, TARDBP	3.82
25	Self-limited infantile epilepsy	Enrichment	KCNQ2, SCN2A, SCN8A	3.82
26	Dystonia	Enrichment	CAMK2B, CASK, GRIA3, MECP2, TH, TOR1A	3.67
27	Alzheimer's disease	Enrichment	APOE, APP, MAPT, PSEN1	3.63
28	Microcephaly	Enrichment	CAMK2B, CASK, DYRK1A, GNAO1, GRIN2B, MECP2, PPFIBP1, SCN1A, SNAP25, STXBP1, SYNGAP1	3.57
29	Generalized epilepsy with febrile seizures plus	Enrichment	SCN1A, SCN1B, SCN2A, SCN9A	3.49
30	Semantic dementia	Enrichment	MAPT, PSEN1, TREM2	3.29
31	Motor neuron disease	Enrichment	OPTN, SOD1, TARDBP	3.29
32	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP, CST3	3.20
33	Alzheimer disease 3	Enrichment	APOE, PSEN1	3.20
34	Seizures, benign familial infantile, 3	Enrichment	KCNQ2, SCN2A	3.20
35	Pick disease of brain	Enrichment	MAPT, PSEN1	3.20
36	Parkinson disease 15, autosomal recessive early-onset	Enrichment	FBXO7, SNCA	3.20
37	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	3.20
38	Alzheimer disease, familial, 1	Enrichment	APOE, APP, MAPT, PSEN1	3.14
39	Progressive non-fluent aphasia	Enrichment	MAPT, PSEN1, TREM2	2.93
40	Behavioral variant of frontotemporal dementia	Enrichment	MAPT, PSEN1, TREM2	2.93
41	Body mass index quantitative trait locus 11	Enrichment	CARTPT, CAST, GRIA4, PCSK1, POMC, SCN1A	2.82
42	Amyotrophic lateral sclerosis 1	Enrichment	DCTN1, NEFH, SOD1	2.78
43	Lissencephaly	Enrichment	DCX, PAFAH1B1, TUBB, TUBB3	2.78
44	Thyroid carcinoma, familial medullary	Enrichment	NTRK1, RET	2.73
45	Band heterotopia	Enrichment	DCX, PAFAH1B1	2.73
46	Body mass index quantitative trait locus 12	Enrichment	CAST, PCSK1	2.73
47	Generalized epilepsy with febrile seizures plus, type 1	Enrichment	SCN1A, SCN1B	2.73
48	Proprotein convertase 1/3 deficiency	Enrichment	CAST, PCSK1	2.73
49	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	2.73
50	Keratoacanthoma	Enrichment	NOTCH1, NOTCH2	2.73
51	Spastic ataxia	Enrichment	DAB1, ITPR1, SCN2A, STXBP1, TUBB3, WFS1	2.69
52	Undetermined early-onset epileptic encephalopathy	Enrichment	GABBR2, NTRK2, SCN1A, SCN1B, SCN8A, SLC1A2	2.57
53	Parkinson disease, late-onset	Enrichment	LRRK2, MAPT, PRKN, SNCA	2.55
54	Hereditary progressive cardiac conduction defect	Enrichment	SCN1B, SCN5A	2.44
55	Sick sinus syndrome	Enrichment	MECP2, SCN5A	2.44
56	Complex hereditary spastic paraplegia	Enrichment	PRKN, SORL1	2.44
57	Stereotypic movement disorder	Enrichment	MECP2, SNAP25, SYNGAP1	2.43
58	Brugada syndrome	Enrichment	SCN10A, SCN1B, SCN2B, SCN5A	2.42
59	Differentiated thyroid carcinoma	Enrichment	NKX2-1, NTRK1, NTRK3, RET	2.25
60	Capillary malformations, congenital	Enrichment	GNA11, GNAQ	2.22
61	Dementia, lewy body	Enrichment	SNCA, SNCB	2.22
62	Dementia	Enrichment	MAPT, PSEN1	2.22
63	Melanoma, uveal	Enrichment	GNA11, GNAQ	2.05
64	Parkinson disease 6, autosomal recessive early-onset	Enrichment	PARK7, PINK1	2.05
65	Brugada syndrome 1	Enrichment	SCN10A, SCN5A	1.91
66	Rett syndrome	Enrichment	GABBR2, MECP2	1.91
67	Non-syndromic x-linked intellectual disability	Enrichment	CASK, DLG3, MECP2, SYP	1.91
68	Fetal akinesia deformation sequence 1	Enrichment	CNTNAP1, SCN4A, SCN5A, SCN8A	1.87
69	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	DLST, NF1, RET	1.82
70	Rett syndrome, congenital variant	Enrichment	GABBR2, MECP2	1.80
71	Alternating hemiplegia of childhood	Enrichment	SCN2A, SLC1A3	1.80
72	Choreatic disease	Enrichment	GNAO1, NKX2-1	1.80
73	Congenital nervous system abnormality	Enrichment	CAMK2B, CASK, DCX, GNAO1, MECP2, OPHN1, PSEN1	1.76
74	Nervous system disease	Enrichment	CAMK2B, CASK, DCX, GNAO1, MECP2, OPHN1, PSEN1	1.76
75	Congenital stationary night blindness	Enrichment	GNB3, RHO, SAG	1.72
76	Neurofibromatosis, type i	Enrichment	GABBR1, NF1	1.70
77	Myoclonic-atonic epilepsy	Enrichment	SCN1A, SYNGAP1	1.70
78	Autosomal dominant cerebellar ataxia	Enrichment	DAGLA, LRRK2	1.70
79	Distal arthrogryposis	Enrichment	CNTNAP1, SCN4A, SCN5A, SCN8A	1.68
80	Familial atrial fibrillation	Enrichment	SCN1B, SCN2B, SCN5A	1.67
81	Nephrolithiasis	Enrichment	NHERF1, SLC12A1	1.61
82	Multiple endocrine neoplasia, type iib	Enrichment	RET	1.60
83	Precocious puberty, central, 1	Enrichment	KISS1R	1.60
84	Keratolytic winter erythema	Enrichment	CTSB	1.60
85	Cataract 41	Enrichment	WFS1	1.60
86	Diabetes insipidus, neurohypophyseal	Enrichment	AVP	1.60
87	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.60
88	Pyloric stenosis, infantile hypertrophic, 1	Enrichment	NOS1	1.60
89	Skin creases, congenital symmetric circumferential, 1	Enrichment	TUBB	1.60
90	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.60
91	Perry syndrome	Enrichment	DCTN1	1.60
92	Parkinson disease 1, autosomal dominant	Enrichment	SNCA	1.60
93	Atrophoderma vermiculata	Enrichment	LRP1	1.60
94	Calcification of joints and arteries	Enrichment	NT5E	1.60
95	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	Enrichment	L1CAM	1.60
96	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	Enrichment	GRIN2A	1.60
97	Sea-blue histiocyte disease	Enrichment	APOE	1.60
98	Wolfram syndrome 1	Enrichment	WFS1	1.60
99	Dicarboxylic aminoaciduria	Enrichment	SLC1A1	1.60
100	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	1.60
101	Deafness, autosomal dominant 6	Enrichment	WFS1	1.60
102	Fatal familial insomnia	Enrichment	PRNP	1.60
103	Systemic lupus erythematosus 6	Enrichment	ITGAM	1.60
104	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	Enrichment	NHERF1	1.60
105	Night blindness, congenital stationary, autosomal dominant 1	Enrichment	RHO	1.60
106	Blood group, diego system	Enrichment	SLC4A1	1.60
107	Dystonia 1, torsion, autosomal dominant	Enrichment	TOR1A	1.60
108	Facial hypertrichosis	Enrichment	MECP2	1.60
109	Macular degeneration, age-related, 11	Enrichment	CST3	1.60
110	Carney complex, type 1	Enrichment	PRKAR1A	1.60
111	Ovalocytosis, southeast asian	Enrichment	SLC4A1	1.60
112	Char syndrome	Enrichment	TFAP2B	1.60
113	Resting heart rate, variation in	Enrichment	ADRB1	1.60
114	Brugada syndrome 5	Enrichment	SCN1B	1.60
115	Developmental and epileptic encephalopathy 39 with leukodystrophy	Enrichment	SLC25A12	1.60
116	Schwannomatosis, vestibular	Enrichment	NF2	1.60
117	Hajdu-cheney syndrome	Enrichment	NOTCH2	1.60
118	Alagille syndrome 2	Enrichment	NOTCH2	1.60
119	Autism 15	Enrichment	CNTNAP2	1.60
120	Blood group--wright antigen	Enrichment	SLC4A1	1.60
121	Spherocytosis, type 4	Enrichment	SLC4A1	1.60
122	Episodic ataxia, type 6	Enrichment	SLC1A3	1.60
123	Maturity-onset diabetes of the young, type 6	Enrichment	NEUROD1	1.60
124	Acne inversa, familial, 1	Enrichment	NCSTN	1.60
125	Lipoprotein glomerulopathy	Enrichment	APOE	1.60
126	Gerstmann-straussler disease	Enrichment	PRNP	1.60
127	Lateral meningocele syndrome	Enrichment	NOTCH3	1.60
128	Focal segmental glomerulosclerosis 2	Enrichment	TRPC6	1.60
129	Keratosis pilaris atrophicans	Enrichment	LRP1	1.60
130	Episodic pain syndrome, familial, 3	Enrichment	SCN11A	1.60
131	Parkinson disease 4, autosomal dominant	Enrichment	SNCA	1.60
132	Cortical dysplasia, complex, with other brain malformations 6	Enrichment	TUBB	1.60
133	Hypogonadotropic hypogonadism 8 with or without anosmia	Enrichment	KISS1R	1.60
134	Developmental and epileptic encephalopathy 7	Enrichment	KCNQ2	1.60
135	Developmental and epileptic encephalopathy 11	Enrichment	SCN2A	1.60
136	Leprosy 2	Enrichment	PRKN	1.60
137	Charcot-marie-tooth disease, demyelinating, type 1f	Enrichment	NEFL	1.60
138	Advanced sleep phase syndrome, familial, 2	Enrichment	CSNK1D	1.60
139	Autism 17	Enrichment	SHANK2	1.60
140	Wolfram-like syndrome, autosomal dominant	Enrichment	WFS1	1.60
141	Kuru	Enrichment	PRNP	1.60
142	Neuropathy, hereditary sensory and autonomic, type vii	Enrichment	SCN11A	1.60
143	Epilepsy, idiopathic generalized 14	Enrichment	SLC12A5	1.60
144	Deafness, autosomal dominant 56	Enrichment	TNC	1.60
145	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	1.60
146	Intellectual developmental disorder, autosomal dominant 7	Enrichment	DYRK1A	1.60
147	Developmental and epileptic encephalopathy 41	Enrichment	SLC1A2	1.60
148	Whim syndrome 1	Enrichment	CXCR4	1.60
149	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	1.60
150	Lissencephaly 7 with cerebellar hypoplasia	Enrichment	CDK5	1.60
151	Spinocerebellar ataxia 41	Enrichment	TRPC3	1.60
152	Neuroocular syndrome 2, paroxysmal type	Enrichment	DAGLA	1.60
153	Cryohydrocytosis	Enrichment	SLC4A1	1.60
154	Sturge-weber syndrome	Enrichment	GNAQ	1.60
155	Spinocerebellar ataxia, autosomal recessive 13	Enrichment	GRM1	1.60
156	Schizophrenia 18	Enrichment	SLC1A1	1.60
157	Atrial fibrillation, familial, 14	Enrichment	SCN2B	1.60
158	Blood group--swann system	Enrichment	SLC4A1	1.60
159	Charcot-marie-tooth disease, axonal, type 2cc	Enrichment	NEFH	1.60
160	Neurodevelopmental disorder with seizures and brain abnormalities	Enrichment	CLCN3	1.60
161	Epilepsy, idiopathic generalized 17	Enrichment	HCN2	1.60
162	Spastic paraplegia 78, autosomal recessive	Enrichment	ATP13A2	1.60
163	Intellectual developmental disorder, x-linked 50	Enrichment	SYN1	1.60
164	Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities	Enrichment	PPFIBP1	1.60
165	Intellectual developmental disorder, x-linked, syndromic, lubs type	Enrichment	MECP2	1.60
166	Developmental and epileptic encephalopathy 117	Enrichment	SNAP25	1.60
167	Intellectual developmental disorder, x-linked, syndromic, billuart type	Enrichment	OPHN1	1.60
168	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.60
169	Developmental and epileptic encephalopathy 63	Enrichment	CPLX1	1.60
170	Corpus callosum, partial agenesis of, x-linked	Enrichment	L1CAM	1.60
171	Hydrocephalus, congenital, x-linked	Enrichment	L1CAM	1.60
172	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.60
173	Oocyte/zygote/embryo maturation arrest 14	Enrichment	CDC20	1.60
174	Autism x-linked 3	Enrichment	MECP2	1.60
175	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	1.60
176	Charcot-marie-tooth disease, dominant intermediate g	Enrichment	NEFL	1.60
177	Neurodevelopmental disorder with poor language and loss of hand skills	Enrichment	GABBR2	1.60
178	Developmental and epileptic encephalopathy 59	Enrichment	GABBR2	1.60
179	Moyamoya disease 7	Enrichment	ANO1	1.60
180	Myoclonus, familial, 2	Enrichment	SCN8A	1.60
181	Baker-gordon syndrome	Enrichment	SYT1	1.60
182	Intellectual developmental disorder, x-linked, syndromic, wu type	Enrichment	GRIA3	1.60
183	Lissencephaly, x-linked, 1	Enrichment	DCX	1.60
184	Delpire-mcneill syndrome	Enrichment	SLC12A2	1.60
185	Leukodystrophy, hypomyelinating, 20	Enrichment	CNP	1.60
186	Developmental and epileptic encephalopathy 89	Enrichment	GAD1	1.60
187	Retinitis pigmentosa 47	Enrichment	SAG	1.60
188	Spongiform encephalopathy with neuropsychiatric features	Enrichment	PRNP	1.60
189	Oguchi disease 1	Enrichment	SAG	1.60
190	Parkinson-dementia syndrome	Enrichment	MAPT	1.60
191	Epilepsy, x-linked 1, with variable learning disabilities and behavior disorders	Enrichment	SYN1	1.60
192	Pheochromocytoma/paraganglioma syndrome 7	Enrichment	DLST	1.60
193	Intellectual developmental disorder, autosomal dominant 76	Enrichment	MARK2	1.60
194	Masa syndrome	Enrichment	L1CAM	1.60
195	Atrial fibrillation, familial, 13	Enrichment	SCN1B	1.60
196	Supranuclear palsy, progressive, 1	Enrichment	MAPT	1.60
197	Cataract 49	Enrichment	PANK4	1.60
198	Familial febrile seizures 2	Enrichment	HCN2	1.60
199	Central diabetes insipidus	Enrichment	AVP	1.60
200	Huntington disease-like 1	Enrichment	PRNP	1.60
201	Myxoma, intracardiac	Enrichment	PRKAR1A	1.60
202	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	1.60
203	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	1.60
204	Prostate cancer/brain cancer susceptibility	Enrichment	EPHB2	1.60
205	Intestinal dysmotility syndrome	Enrichment	ANO1	1.60
206	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	Enrichment	NACC1	1.60
207	Hyperinsulinemic hypoglycemia, familial, 6	Enrichment	GLUD1	1.60
208	Progressive supranuclear palsy	Enrichment	MAPT	1.60
209	Lethal congenital contracture syndrome 7	Enrichment	CNTNAP1	1.60
210	Motor peripheral neuropathy	Enrichment	AGTPBP1	1.60
211	Hypercholesterolemia, familial, 3	Enrichment	PCSK9	1.60
212	Coronary artery disease, autosomal dominant, 1	Enrichment	MEF2A	1.60
213	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	1.60
214	Cerebral amyloid angiopathy, app-related	Enrichment	APP	1.60
215	X-linked epilepsy with variable learning disabilities and behavior disorders	Enrichment	SYN1	1.60
216	Kufor-rakeb syndrome	Enrichment	ATP13A2	1.60
217	Neuronopathy, distal hereditary motor, autosomal dominant 14	Enrichment	DCTN1	1.60
218	Parkinson disease 7, autosomal recessive early-onset	Enrichment	PARK7	1.60
219	Episodic ataxia, type 9	Enrichment	SCN2A	1.60
220	Agammaglobulinemia 5, autosomal dominant	Enrichment	LRRC8A	1.60
221	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	1.60
222	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	1.60
223	Charcot-marie-tooth disease type 1f	Enrichment	NEFL	1.60
224	Periodic fever, menstrual cycle-dependent	Enrichment	HTR1A	1.60
225	Olmsted syndrome 1	Enrichment	TRPV3	1.60
226	Hermansky-pudlak syndrome 7	Enrichment	DTNBP1	1.60
227	Intellectual developmental disorder, autosomal dominant 10	Enrichment	CACNG2	1.60
228	Episodic pain syndrome, familial, 2	Enrichment	SCN10A	1.60
229	Familial alzheimer-like prion disease	Enrichment	PRNP	1.60
230	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	Enrichment	VAMP2	1.60
231	Alzheimer disease 17	Enrichment	TREM2	1.60
232	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.60
233	Neurodevelopmental disorder with language impairment and behavioral abnormalities	Enrichment	GRIA2	1.60
234	Myofibromatosis, infantile, 2	Enrichment	NOTCH3	1.60
235	Deafness, autosomal dominant 78	Enrichment	SLC12A2	1.60
236	Spinocerebellar ataxia 37	Enrichment	DAB1	1.60
237	Benign familial infantile epilepsy	Enrichment	SCN2A	1.60
238	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.60
239	Epilepsy with generalized tonic-clonic seizures	Enrichment	SNAP25	1.60
240	Syndromic x-linked intellectual disability lubs type	Enrichment	MECP2	1.60
241	Retinitis pigmentosa 4	Enrichment	RHO	1.60
242	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	1.60
243	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	1.60
244	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.60
245	Parkinson disease 5, autosomal dominant	Enrichment	UCHL1	1.60
246	Acne inversa, familial, 3	Enrichment	PSEN1	1.60
247	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	1.60
248	Schizophrenia 15	Enrichment	SHANK3	1.60
249	Neurodevelopmental disorder with or without seizures and gait abnormalities	Enrichment	GRIA4	1.60
250	Patent ductus arteriosus 2	Enrichment	TFAP2B	1.60
251	Prion disease	Enrichment	PRNP	1.60
252	Intellectual developmental disorder, autosomal recessive 64	Enrichment	LINGO1	1.60
253	Kilquist syndrome	Enrichment	SLC12A2	1.60
254	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.60
255	Lopes-maciel-rodan syndrome	Enrichment	HTT	1.60
256	Bleeding disorder, platelet-type, 22	Enrichment	EPHB2	1.60
257	Palmoplantar keratoderma, nonepidermolytic, focal 2	Enrichment	TRPV3	1.60
258	Spastic paraplegia 75, autosomal recessive	Enrichment	MAG	1.60
259	Intellectual developmental disorder, autosomal dominant 67	Enrichment	GRIA1	1.60
260	Spinocerebellar ataxia 44	Enrichment	GRM1	1.60
261	Neuropathy, congenital hypomyelinating, 3	Enrichment	CNTNAP1	1.60
262	Congenital myopathy 9b, proximal, with minicore lesions	Enrichment	FXR1	1.60
263	Short sleep, familial natural, 2	Enrichment	ADRB1	1.60
264	Classic progressive supranuclear palsy syndrome	Enrichment	MAPT	1.60
265	Retinitis pigmentosa 96	Enrichment	SAG	1.60
266	Autoinflammation with episodic fever and lymphadenopathy	Enrichment	RIPK1	1.60
267	Arthrogryposis multiplex congenita 5	Enrichment	TOR1A	1.60
268	Congenital myopathy 9a	Enrichment	FXR1	1.60
269	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.60
270	Muscular channelopathy	Enrichment	SCN4A	1.60
271	Intellectual developmental disorder, autosomal recessive 76	Enrichment	GRIA1	1.60
272	Developmental and epileptic encephalopathy 39	Enrichment	SLC25A12	1.60
273	Neurodevelopmental disorder with hypotonia and brain abnormalities	Enrichment	CLCN3	1.60
274	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	Enrichment	TREM2	1.60
275	Neurodevelopmental disorder with central and peripheral motor dysfunction	Enrichment	NFASC	1.60
276	Neurodevelopmental disorder with language delay and variable cognitive abnormalities	Enrichment	GABBR1	1.60
277	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	1.60
278	Plexiform neurofibroma	Enrichment	NF1	1.60
279	Dworschak-punetha neurodevelopmental syndrome	Enrichment	PLXNA1	1.60
280	Narcolepsy	Enrichment	HCRT	1.60
281	Neurofibroma	Enrichment	NF1	1.60
282	Developmental and epileptic encephalopathy 113	Enrichment	SV2A	1.60
283	Dcx-related disorders	Enrichment	DCX	1.60
284	Atypical progressive supranuclear palsy syndrome	Enrichment	MAPT	1.60
285	Syndromic x-linked intellectual disability 94	Enrichment	GRIA3	1.60
286	Hot water epilepsy	Enrichment	SLC1A1	1.60
287	Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	Enrichment	CST3	1.60
288	Charcot-marie-tooth disease type 2b5	Enrichment	NEFL	1.60
289	Neurofibromatosis	Enrichment	NF1	1.60
290	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.60
291	Catechol-o-methyltransferase activity, variation in	Enrichment	COMT	1.60
292	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	1.60
293	Wolfram-like syndrome	Enrichment	WFS1	1.60
294	Transient cerebral ischemia	Enrichment	NOTCH3	1.60
295	Landau-kleffner syndrome	Enrichment	GRIN2A	1.60
296	Chromosome 17q11.2 deletion syndrome	Enrichment	NF1	1.60
297	Rare disease with autism	Enrichment	SHANK2	1.60
298	Cask-related intellectual disability	Enrichment	CASK	1.60
299	Thyroid cancer	Enrichment	RET	1.60
300	Optic nerve glioma	Enrichment	NF1	1.60
301	Mutism	Enrichment	SHANK3	1.60
302	Prp systemic amyloidosis	Enrichment	PRNP	1.60
303	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Enrichment	NOTCH3	1.60
304	Xq27.3q28 duplication syndrome	Enrichment	FMR1	1.60
305	Acoustic neuroma	Enrichment	NF2	1.60
306	Dyt1 early-onset isolated dystonia	Enrichment	TOR1A	1.60
307	X-linked complicated spastic paraplegia type 1	Enrichment	L1CAM	1.60
308	Inherited human prion disease	Enrichment	PRNP	1.60
309	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	1.60
310	Juvenile huntington disease	Enrichment	HTT	1.60
311	Gria2-related neurodevelopmental disorder	Enrichment	GRIA2	1.60
312	Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation	Enrichment	GRIN2A	1.60
313	Grin2a-related disorders	Enrichment	GRIN2A	1.60
314	Pitt-hopkins-like syndrome	Enrichment	CNTNAP2	1.60
315	Lissencephaly due to lis1 mutation	Enrichment	PAFAH1B1	1.60
316	Gnao1-related disorder	Enrichment	GNAO1	1.60
317	Kcnq2-related disorders	Enrichment	KCNQ2	1.60
318	Pash syndrome	Enrichment	NCSTN	1.60
319	Huntington's disease-like	Enrichment	PSEN2	1.60
320	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.60
321	Chondromyxoid fibroma	Enrichment	GRM1	1.60
322	Tardbp-related predominantly upper-limb distal myopathy	Enrichment	TARDBP	1.60
323	Wfs1 spectrum disorder	Enrichment	WFS1	1.60
324	Inherited creutzfeldt-jakob disease	Enrichment	PRNP	1.60
325	Gastrointestinal system disease	Enrichment	RET	1.60
326	Parkinsonism due to atp13a2 deficiency	Enrichment	ATP13A2	1.60
327	Hereditary arginine vasopressin deficiency	Enrichment	AVP	1.60
328	Multiple endocrine neoplasia	Enrichment	RET	1.60
329	Movement disease	Enrichment	GNAO1, SCN2A	1.53
330	Presynaptic congenital myasthenic syndromes	Enrichment	SNAP25, VAMP1	1.53
331	Cardiac conduction defect	Enrichment	SCN1B, SCN5A	1.45
332	Epicanthus	Enrichment	KCNQ2, TFAP2A	1.45
333	Juvenile myelomonocytic leukemia	Enrichment	ARHGAP26, NF1	1.45
334	Long qt syndrome 1	Enrichment	CALM1, SCN10A, SCN5A	1.41
335	Pheochromocytoma	Enrichment	NF1, RET	1.33
336	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	Enrichment	PARK7	1.30
337	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.30
338	Seizures, benign familial neonatal, 1	Enrichment	KCNQ2	1.30
339	Spinocerebellar ataxia 1	Enrichment	ATXN1	1.30
340	Cafe-au-lait spots, multiple	Enrichment	NF1	1.30
341	Atrial standstill 1	Enrichment	SCN5A	1.30
342	Progressive familial heart block, type ia	Enrichment	SCN5A	1.30
343	Spastic ataxia 1, autosomal dominant	Enrichment	VAMP1	1.30
344	Paramyotonia congenita	Enrichment	SCN4A	1.30
345	Seizures, benign familial neonatal, 2	Enrichment	KCNQ2	1.30
346	Major affective disorder 1	Enrichment	TPH2	1.30
347	Hyperekplexia 1	Enrichment	GPHN	1.30
348	Scoliosis, isolated 1	Enrichment	MAPK7	1.30
349	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.30
350	Alexander disease	Enrichment	GFAP	1.30
351	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.30
352	Batten-turner congenital myopathy	Enrichment	SCN4A	1.30
353	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.30
354	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	Enrichment	TREM2	1.30
355	Indifference to pain, congenital, autosomal recessive	Enrichment	SCN9A	1.30
356	Encephalopathy, neonatal severe, due to mecp2 mutations	Enrichment	MECP2	1.30
357	Fg syndrome 4	Enrichment	CASK	1.30
358	Parkinson disease 12	Enrichment	PRKN	1.30
359	Intellectual developmental disorder with autism and speech delay	Enrichment	TBR1	1.30
360	Alzheimer disease 9	Enrichment	SORL1	1.30
361	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.30
362	Parkinson disease 8, autosomal dominant	Enrichment	LRRK2	1.30
363	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	PRKAR1A	1.30
364	Sick sinus syndrome 1	Enrichment	SCN5A	1.30
365	Schwannomatosis 1	Enrichment	NF2	1.30
366	Myotonia, potassium-aggravated	Enrichment	SCN4A	1.30
367	Hereditary motor and sensory neuropathy, type iic	Enrichment	NEFH	1.30
368	Intellectual developmental disorder, autosomal recessive 5	Enrichment	SYNGAP1	1.30
369	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.30
370	Segawa syndrome, autosomal recessive	Enrichment	TH	1.30
371	Keppen-lubinsky syndrome	Enrichment	KCNJ6	1.30
372	Lissencephaly 1	Enrichment	PAFAH1B1	1.30
373	Creutzfeldt-jakob disease	Enrichment	PRNP	1.30
374	Orofacial cleft 5	Enrichment	MSX1	1.30
375	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	Enrichment	CAST	1.30
376	Adams-oliver syndrome 5	Enrichment	NOTCH1	1.30
377	Amyotrophic lateral sclerosis 16, juvenile	Enrichment	SIGMAR1	1.30
378	Epilepsy, early-onset, 5, with or without developmental delay	Enrichment	CNTN2	1.30
379	Orthostatic hypotension 1	Enrichment	DBH	1.30
380	Myoclonic epilepsy, familial infantile	Enrichment	CPLX1	1.30
381	Neuronopathy, distal hereditary motor, autosomal recessive 2	Enrichment	SIGMAR1	1.30
382	Developmental and epileptic encephalopathy 34	Enrichment	SLC12A5	1.30
383	Retinal dystrophy, juvenile cataracts, and short stature syndrome	Enrichment	GPHN	1.30
384	Atrial fibrillation, familial, 10	Enrichment	SCN5A	1.30
385	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.30
386	Witkop syndrome	Enrichment	MSX1	1.30
387	Aromatic l-amino acid decarboxylase deficiency	Enrichment	DDC	1.30
388	Migraine, familial hemiplegic, 3	Enrichment	SCN1A	1.30
389	Pitt-hopkins-like syndrome 1	Enrichment	CNTNAP2	1.30
390	Spastic paraplegia 76, autosomal recessive	Enrichment	CAPN1	1.30
391	Palmoplantar keratoderma, nonepidermolytic, focal 1	Enrichment	TRPV3	1.30
392	Cognitive impairment with or without cerebellar ataxia	Enrichment	SCN8A	1.30
393	Spastic paraplegia, intellectual disability, nystagmus, and obesity	Enrichment	GFAP	1.30
394	Long qt syndrome 14	Enrichment	CALM1	1.30
395	Hypothyroidism, congenital, nongoitrous, 6	Enrichment	NR1D1	1.30
396	Oguchi disease 2	Enrichment	SAG	1.30
397	Spastic paraplegia 79b, autosomal recessive	Enrichment	UCHL1	1.30
398	Abdominal obesity-metabolic syndrome 3	Enrichment	DYRK1B	1.30
399	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.30
400	Long qt syndrome 3	Enrichment	SCN5A	1.30
401	Developmental and epileptic encephalopathy 6b	Enrichment	SCN1A	1.30
402	Charcot-marie-tooth disease, demyelinating, type 4d	Enrichment	NDRG1	1.30
403	Bartter syndrome, type 1, antenatal	Enrichment	SLC12A1	1.30
404	Sinoatrial node disease	Enrichment	SCN5A	1.30
405	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.30
406	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	Enrichment	SLC1A4	1.30
407	Intellectual developmental disorder, x-linked 90	Enrichment	DLG3	1.30
408	Neuropathy, congenital hypomyelinating, 2	Enrichment	RHO	1.30
409	Developmental dysplasia of the hip 3	Enrichment	LRP1	1.30
410	Microcephaly 21, primary, autosomal recessive	Enrichment	GAPDH	1.30
411	Congenital myopathy 22a, classic	Enrichment	SCN4A	1.30
412	Hypophosphatemia	Enrichment	NHERF1	1.30
413	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	Enrichment	AGTPBP1	1.30
414	Nephrotic syndrome, type 17	Enrichment	GGA3	1.30
415	Congenital myopathy 22b, severe fetal	Enrichment	SCN4A	1.30
416	Chromosome 17q11.2 duplication syndrome, 1.4-mb	Enrichment	NF1	1.30
417	Usher syndrome, type iv	Enrichment	PRKAR1A	1.30
418	Hyperlipoproteinemia, type iii	Enrichment	APOE	1.30
419	Infantile myofibromatosis	Enrichment	NOTCH3	1.30
420	Intellectual developmental disorder, x-linked, syndromic 13	Enrichment	MECP2	1.30
421	Perrault syndrome 3	Enrichment	CLPP	1.30
422	Myasthenic syndrome, congenital, 16	Enrichment	SCN4A	1.30
423	Osteopetrosis, autosomal recessive 3	Enrichment	CA2	1.30
424	Kala-azar 2	Enrichment	GSTP1	1.30
425	Bilateral generalized polymicrogyria	Enrichment	GRIN1	1.30
426	Molybdenum cofactor deficiency, type c	Enrichment	GPHN	1.30
427	Intellectual developmental disorder, autosomal dominant 21	Enrichment	GRIN2A	1.30
428	Hereditary spastic paraplegia 79a	Enrichment	UCHL1	1.30
429	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.30
430	Syndromic x-linked intellectual disability	Enrichment	CASK	1.30
431	Dopamine beta-hydroxylase deficiency	Enrichment	DBH	1.30
432	X-linked intellectual disability-psychosis-macroorchidism syndrome	Enrichment	MECP2	1.30
433	Central precocious puberty	Enrichment	KISS1R	1.30
434	Lipodystrophy, familial partial, type 1	Enrichment	NOTCH3	1.30
435	Developmental and epileptic encephalopathy 96	Enrichment	NSF	1.30
436	Optic disk drusen	Enrichment	RHO	1.30
437	Renal tubular acidosis	Enrichment	SLC4A1	1.30
438	Vulto-van silfhout-de vries syndrome	Enrichment	DLG4	1.30
439	Acrodysostosis	Enrichment	PRKAR1A	1.30
440	Benign familial neonatal epilepsy	Enrichment	SCN2A	1.30
441	Depressive disorder	Enrichment	NOTCH3	1.30
442	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.30
443	Developmental and epileptic encephalopathy 30	Enrichment	SCN2A	1.30
444	Phelan-mcdermid syndrome	Enrichment	SHANK3	1.30
445	Neurodegeneration, childhood-onset, with cerebellar atrophy	Enrichment	AGTPBP1	1.30
446	Medullary thyroid carcinoma	Enrichment	RET	1.30
447	Fibrolamellar carcinoma	Enrichment	PRKACA	1.30
448	Wolfram syndrome	Enrichment	WFS1	1.30
449	Psychotic disorder	Enrichment	SHANK3	1.30
450	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	1.30
451	Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	Enrichment	NKX2-1	1.30
452	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	1.30
453	Spastic paraplegia 79a, autosomal dominant, with ataxia	Enrichment	UCHL1	1.30
454	Ichthyosis, congenital, autosomal recessive 10	Enrichment	KCNQ2	1.30
455	Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia	Enrichment	OPTN	1.30
456	Bardet-biedl syndrome 9	Enrichment	NF1	1.30
457	Spastic tetraplegia and axial hypotonia, progressive	Enrichment	SOD1	1.30
458	Megalencephaly-polydactyly syndrome	Enrichment	MYCN	1.30
459	Fibrosarcoma	Enrichment	NTRK3	1.30
460	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.30
461	Renal tubular acidosis, distal, 4, with hemolytic anemia	Enrichment	SLC4A1	1.30
462	Hypokalemic periodic paralysis, type 2	Enrichment	SCN4A	1.30
463	Spastic ataxia 1	Enrichment	VAMP1	1.30
464	Amyotrophic lateral sclerosis type 12	Enrichment	OPTN	1.30
465	Scn1a seizure disorders	Enrichment	SCN1A	1.30
466	Seizures, benign familial infantile, 5	Enrichment	SCN8A	1.30
467	Immunodeficiency 57 with autoinflammation	Enrichment	RIPK1	1.30
468	Esotropia	Enrichment	TFAP2A	1.30
469	Myasthenic syndrome, congenital, 25, presynaptic	Enrichment	VAMP1	1.30
470	9q33.3q34.11 microdeletion syndrome	Enrichment	STXBP1	1.30
471	Mitochondrial dna depletion syndrome 15	Enrichment	TFAM	1.30
472	Multiple benign circumferential skin creases on limbs	Enrichment	TUBB	1.30
473	Charcot-marie-tooth disease type 4d	Enrichment	NDRG1	1.30
474	Malignant migrating partial seizures of infancy	Enrichment	SCN2A	1.30
475	Developmental and epileptic encephalopathy 76	Enrichment	SCN1A	1.30
476	Distal hereditary motor neuropathy type 7	Enrichment	DCTN1	1.30
477	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.30
478	Rolandic epilepsy-speech dyspraxia syndrome	Enrichment	GRIN2A	1.30
479	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	Enrichment	SLC1A4	1.30
480	Small fiber neuropathy	Enrichment	SCN9A	1.30
481	Self-limited neonatal epilepsy	Enrichment	KCNQ2	1.30
482	Benign neonatal seizures	Enrichment	SCN2A	1.30
483	Isolated atrial standstill	Enrichment	SCN5A	1.30
484	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion	Enrichment	TBR1	1.30
485	Oguchi disease	Enrichment	SAG	1.30
486	Familial retinoblastoma	Enrichment	MYCN	1.30
487	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	NHERF1	1.30
488	Lens subluxation	Enrichment	TFAP2A	1.30
489	Familial patent arterial duct	Enrichment	TFAP2B	1.30
490	Pleomorphic rhabdomyosarcoma	Enrichment	NF1	1.30
491	Progressive bulbar palsy	Enrichment	MECP2	1.30
492	Nkx2-1-related disorders	Enrichment	NKX2-1	1.30
493	Epilepsy-aphasia spectrum	Enrichment	GRIN2A	1.30
494	Submucosal cleft palate	Enrichment	UBB	1.30
495	Cleft hard palate	Enrichment	UBB	1.30
496	Bruxism	Enrichment	MECP2	1.30
497	Familial hypercholesterolemia	Enrichment	APOE, PCSK9	1.27
498	Schizophrenia	Enrichment	COMT, DLG2, PRKN, SYN2	1.22
499	Hypertension, essential	Enrichment	AGT, GNB3	1.17
500	Sudden infant death syndrome	Enrichment	SCN1A, SCN5A	1.17
501	Laryngomalacia	Enrichment	MECP2	1.13
502	Dystonia 12	Enrichment	SCN2A	1.13
503	Dystonia, dopa-responsive	Enrichment	TH	1.13
504	Retinoblastoma	Enrichment	MYCN	1.13
505	Klippel-feil syndrome 1, autosomal dominant	Enrichment	LRRK2	1.13
506	Myopia 2, autosomal dominant	Enrichment	CNP	1.13
507	Thrombocythemia 1	Enrichment	CALR	1.13
508	Gillespie syndrome	Enrichment	ITPR1	1.13
509	Uvula, bifid	Enrichment	UBB	1.13
510	Intellectual developmental disorder, x-linked 96	Enrichment	SYP	1.13
511	Watson syndrome	Enrichment	NF1	1.13
512	Niemann-pick disease, type a	Enrichment	APBB1	1.13
513	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	CASK	1.13
514	Heart defects, congenital, and other congenital anomalies	Enrichment	DLG4	1.13
515	Obesity, early-onset, with adrenal insufficiency and red hair	Enrichment	POMC	1.13
516	Cleft soft palate	Enrichment	UBB	1.13
517	Niemann-pick disease, type b	Enrichment	APBB1	1.13
518	Leber congenital amaurosis 13	Enrichment	GPHN	1.13
519	Intellectual developmental disorder, autosomal dominant 5	Enrichment	SYNGAP1	1.13
520	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11	1.13
521	Glaucoma, normal tension	Enrichment	OPTN	1.13
522	Neurofibromatosis, familial spinal	Enrichment	NF1	1.13
523	Generalized epilepsy with febrile seizures plus, type 2	Enrichment	SCN1A	1.13
524	Developmental and epileptic encephalopathy 13	Enrichment	SCN8A	1.13
525	Chromosome 17q11.2 deletion syndrome, 1.4-mb	Enrichment	NF1	1.13
526	Miller-dieker lissencephaly syndrome	Enrichment	PAFAH1B1	1.13
527	Generalized epilepsy with febrile seizures plus, type 7	Enrichment	SCN9A	1.13
528	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	PAFAH1B1	1.13
529	Tremor, hereditary essential, 6	Enrichment	SCN4A	1.13
530	Glycosylphosphatidylinositol biosynthesis defect 17	Enrichment	GPHN	1.13
531	Keratosis follicularis spinulosa decalvans	Enrichment	LRP1	1.13
532	Intellectual developmental disorder, autosomal dominant 62	Enrichment	DLG4	1.13
533	Torsion dystonia 1	Enrichment	TOR1A	1.13
534	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	TRPV3	1.13
535	Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures	Enrichment	DLG4	1.13
536	Syndromic x-linked intellectual disability najm type	Enrichment	CASK	1.13
537	Precocious puberty, central, 2	Enrichment	KISS1R	1.13
538	Cerebellar disease	Enrichment	CASK	1.13
539	Gingival overgrowth	Enrichment	RET	1.13
540	Cellular ependymoma	Enrichment	NF2	1.13
541	Tanycytic ependymoma	Enrichment	NF2	1.13
542	Papillary ependymoma	Enrichment	NF2	1.13
543	Migraine without aura	Enrichment	NOTCH3	1.13
544	Microcephaly 17, primary, autosomal recessive	Enrichment	RHO	1.13
545	Brain cancer	Enrichment	NF1	1.13
546	Dlg4-related synaptopathy	Enrichment	DLG4	1.13
547	Arachnoid cyst	Enrichment	GPHN	1.13
548	Advanced sleep phase syndrome	Enrichment	CSNK1D	1.13
549	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	1.13
550	Tubulinopathy-associated dysgyria	Enrichment	TUBB3	1.13
551	Melanoma of soft tissue	Enrichment	CREB1	1.13
552	Spindle cell sarcoma	Enrichment	NF2	1.13
553	Clear cell ependymoma	Enrichment	NF2	1.13
554	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	CNTNAP1	1.13
555	Hereditary episodic ataxia	Enrichment	SCN2A	1.13
556	Obesity due to pro-opiomelanocortin deficiency	Enrichment	POMC	1.13
557	Parkinson's disease	Enrichment	LRRK2, PRKN	1.09
558	Charcot-marie-tooth disease	Enrichment	DCTN1, NDRG1, NEFL	1.08
559	Type 2 diabetes mellitus	Enrichment	NEUROD1, PTPN1, WFS1	1.05
560	Craniosynostosis	Enrichment	GRIN2B, TFAP2B	1.05
561	Chorea, benign hereditary	Enrichment	NKX2-1	1.01
562	Branchiooculofacial syndrome	Enrichment	TFAP2A	1.01
563	Huntington disease	Enrichment	HTT	1.01
564	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	Enrichment	SLC4A1	1.01
565	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DLG4	1.01
566	Fucosidosis	Enrichment	DCX	1.01
567	Neuropathy, hereditary sensory and autonomic, type iia	Enrichment	SCN9A	1.01
568	Myopathy, centronuclear, 2	Enrichment	BIN1	1.01
569	Thyroid cancer, nonmedullary, 1	Enrichment	NKX2-1	1.01
570	Astigmatism	Enrichment	GRIN2B	1.01
571	Macular degeneration, age-related, 1	Enrichment	APOE	1.01
572	Budd-chiari syndrome	Enrichment	CALR	1.01
573	Developmental and epileptic encephalopathy 2	Enrichment	SNAP25	1.01
574	Neurofibromatosis-noonan syndrome	Enrichment	NF1	1.01
575	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	SCN5A	1.01
576	Frontotemporal dementia 2	Enrichment	PRNP	1.01
577	Fragile x tremor/ataxia syndrome	Enrichment	FMR1	1.01
578	Developmental and epileptic encephalopathy 4	Enrichment	STXBP1	1.01
579	Carney complex variant	Enrichment	PRKAR1A	1.01
580	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.01
581	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.01
582	Long qt syndrome 2	Enrichment	SCN5A	1.01
583	Hyperkalemic periodic paralysis	Enrichment	SCN4A	1.01
584	Developmental and epileptic encephalopathy 12	Enrichment	SCN2A	1.01
585	Tobacco addiction	Enrichment	GABBR2	1.01
586	Central hypoventilation syndrome, congenital, 1	Enrichment	RET	1.01
587	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	Enrichment	GAD1	1.01
588	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	Enrichment	TBR1	1.01
589	Macular dystrophy with or without cone dysfunction	Enrichment	GPHN	1.01
590	Hereditary sensory and autonomic neuropathy type 2	Enrichment	SCN9A	1.01
591	Developmental and epileptic encephalopathy 52	Enrichment	SCN1B	1.01
592	Enophthalmos	Enrichment	DYRK1A	1.01
593	Fragile x-associated tremor/ataxia syndrome	Enrichment	FMR1	1.01
594	Atrial fibrillation	Enrichment	SCN5A	1.01
595	Dowling-degos disease	Enrichment	PSENEN	1.01
596	Hereditary ataxia	Enrichment	NKX2-1	1.01
597	Cerebrovascular disease	Enrichment	NOTCH3	1.01
598	Embryonal rhabdomyosarcoma	Enrichment	NF1	1.01
599	Sotos syndrome 1	Enrichment	SCN4A	1.01
600	Pilocytic astrocytoma	Enrichment	NF1	1.01
601	Spastic quadriplegic cerebral palsy	Enrichment	GAD1	1.01
602	Oligohydramnios	Enrichment	OPHN1	1.01
603	Idiopathic achalasia	Enrichment	NOS1	1.01
604	Diabetes insipidus	Enrichment	AVP	1.01
605	Episodic ataxia	Enrichment	SCN2A	1.01
606	Familial or sporadic hemiplegic migraine	Enrichment	SCN1A	1.01
607	Hermansky-pudlak syndrome due to bloc-1 deficiency	Enrichment	DTNBP1	1.01
608	Full schwannomatosis	Enrichment	NF2	1.01
609	Genetic central precocious puberty in male	Enrichment	KISS1R	1.01
610	Glioma	Enrichment	NTRK3	1.01
611	Haddad syndrome	Enrichment	RET	1.01
612	Benign ependymoma	Enrichment	NF2	1.01
613	Middle aortic syndrome	Enrichment	NF1	1.01
614	Cleft lip and alveolus	Enrichment	MSX1	1.01
615	Paroxysmal familial ventricular fibrillation	Enrichment	SCN5A	1.01
616	Familial sick sinus syndrome	Enrichment	SCN5A	1.01
617	Pseudomyogenic hemangioendothelioma	Enrichment	FOSB	1.01
618	Attention deficit-hyperactivity disorder	Enrichment	MECP2, TBR1	0.98
619	Microphthalmia	Enrichment	DYRK1A, TFAP2A	0.98
620	Skin disease	Enrichment	NCSTN, NF1	0.98
621	Malaria	Enrichment	SCN8A, SLC4A1	0.95
622	Sensorineural hearing loss	Enrichment	NEFL, RET, SLC12A2	0.92
623	Alzheimer disease 2	Enrichment	APOE	0.92
624	Sotos syndrome	Enrichment	SCN4A	0.92
625	Feingold syndrome 1	Enrichment	MYCN	0.92
626	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Enrichment	NOTCH3	0.92
627	Retinal detachment	Enrichment	RHO	0.92
628	Multiple endocrine neoplasia, type iia	Enrichment	RET	0.92
629	Niemann-pick disease, type c1	Enrichment	APBB1	0.92
630	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	CASK	0.92
631	Premature ovarian failure 1	Enrichment	FMR1	0.92
632	Fragile x syndrome	Enrichment	FMR1	0.92
633	Parkinson disease 2, autosomal recessive juvenile	Enrichment	PRKN	0.92
634	Rhabdomyosarcoma 2	Enrichment	NF1	0.92
635	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	SCN8A	0.92
636	Major depressive disorder	Enrichment	TPH2	0.92
637	Narcolepsy 2	Enrichment	HCRT	0.92
638	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	NEFL	0.92
639	Chromosome 15q11.2 deletion syndrome	Enrichment	PAFAH1B1	0.92
640	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	L1CAM	0.92
641	Heart conduction disease	Enrichment	SCN5A	0.92
642	Amblyopia	Enrichment	TFAP2A	0.92
643	Cardiac arrest	Enrichment	SCN5A	0.92
644	Hyperekplexia	Enrichment	GPHN	0.92
645	Osteopetrosis	Enrichment	CA2	0.92
646	Niemann-pick disease	Enrichment	APBB1	0.92
647	Night blindness	Enrichment	RHO	0.92
648	Histiocytoid hemangioma	Enrichment	FOSB	0.92
649	Parkin type of early-onset parkinson disease	Enrichment	PRKN	0.92
650	Vascular dementia	Enrichment	NOTCH3	0.92
651	Cleft upper lip	Enrichment	MSX1	0.92
652	Genetic motor neuron disease	Enrichment	DCTN1	0.92
653	Sensory peripheral neuropathy	Enrichment	SCN11A	0.92
654	Sleep disorder	Enrichment	GRIN2B	0.92
655	Scoliosis	Enrichment	GFAP, GRIN2B	0.92
656	Tetralogy of fallot	Enrichment	NOTCH1, RET	0.86
657	Rasopathy	Enrichment	DDC, NF1	0.86
658	Auditory neuropathy	Enrichment	NEFL, NOTCH3	0.86
659	Angelman syndrome	Enrichment	MECP2	0.85
660	Glaucoma, primary open angle	Enrichment	OPTN	0.85
661	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ	0.85
662	Hypokalemic periodic paralysis, type 1	Enrichment	SCN4A	0.85
663	Dystonia 11, myoclonic	Enrichment	TOR1A	0.85
664	Branchiootorenal syndrome 1	Enrichment	TFAP2A	0.85
665	Myopathy, centronuclear, 1	Enrichment	BIN1	0.85
666	Machado-joseph disease	Enrichment	LRRK2	0.85
667	Renal tubular acidosis, distal, 1	Enrichment	SLC4A1	0.85
668	Wolf-hirschhorn syndrome	Enrichment	CPLX1	0.85
669	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1	0.85
670	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GLUD1	0.85
671	Metachromatic leukodystrophy	Enrichment	GFAP	0.85
672	Renal tubular dysgenesis	Enrichment	AGT	0.85
673	Anxiety	Enrichment	GPHN	0.85
674	Congenital anomalies of kidney and urinary tract 1	Enrichment	TRAP1	0.85
675	Inflammatory bowel disease 25, autosomal recessive	Enrichment	RIPK1	0.85
676	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	0.85
677	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	0.85
678	Pontocerebellar hypoplasia, type 1e	Enrichment	AGTPBP1	0.85
679	Familial adult myoclonic epilepsy	Enrichment	CNTN2	0.85
680	Intestinal pseudo-obstruction	Enrichment	TFAP2B	0.85
681	Congenital fibrosis of the extraocular muscles	Enrichment	TUBB3	0.85
682	Pain disorder	Enrichment	SCN4A	0.85
683	Lipid metabolism disorder	Enrichment	APOE	0.85
684	Adrenocortical carcinoma	Enrichment	PRKAR1A	0.85
685	Early myoclonic encephalopathy	Enrichment	KCND2	0.85
686	Hereditary spherocytosis	Enrichment	SLC4A1	0.85
687	Il10-related early-onset inflammatory bowel disease	Enrichment	RIPK1	0.85
688	Autosomal recessive distal renal tubular acidosis	Enrichment	SLC4A1	0.85
689	Distal renal tubular acidosis	Enrichment	SLC4A1	0.85
690	Nonsyndromic genetic hyperinsulinism	Enrichment	GLUD1	0.85
691	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	RET	0.85
692	Familial isolated dilated cardiomyopathy	Enrichment	PSEN1, PSEN2, SCN5A	0.83
693	Fundus albipunctatus	Enrichment	RHO	0.79
694	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-1	0.79
695	Myelofibrosis	Enrichment	CALR	0.79
696	Coats disease	Enrichment	RHO	0.79
697	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	WFS1	0.79
698	Adams-oliver syndrome	Enrichment	NOTCH1	0.79
699	Alzheimer's disease 1	Enrichment	APP	0.79
700	Branchiootorenal syndrome	Enrichment	TFAP2A	0.79
701	Essential thrombocythemia	Enrichment	CALR	0.79
702	Bartter disease	Enrichment	SLC12A1	0.79
703	Pilomyxoid astrocytoma	Enrichment	NTRK2	0.79
704	Long qt syndrome	Enrichment	CALM1, SCN5A	0.74
705	Arthrogryposis, distal, type 1a	Enrichment	CNTNAP1	0.73
706	Narcolepsy 1	Enrichment	HCRT	0.73
707	Renal hypodysplasia/aplasia 1	Enrichment	RET	0.73
708	Ewing sarcoma	Enrichment	NF1	0.73
709	Lennox-gastaut syndrome	Enrichment	SCN1A	0.73
710	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.73
711	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1	0.73
712	Hypothyroidism	Enrichment	RET	0.73
713	Neuroblastoma	Enrichment	MYCN	0.73
714	Homozygous familial hypercholesterolemia	Enrichment	PCSK9	0.73
715	Hypoplastic left heart syndrome	Enrichment	NOTCH1	0.73
716	Male infertility due to globozoospermia	Enrichment	PICK1	0.73
717	Early-onset posterior polar cataract	Enrichment	PANK4	0.73
718	Peripheral nervous system disease	Enrichment	NEFL, NGF	0.72
719	Neuropathy	Enrichment	NEFL, NGF	0.72
720	Tooth agenesis, selective, 1	Enrichment	MSX1	0.69
721	Ellis-van creveld syndrome	Enrichment	PRKACA	0.69
722	Leukemia, acute lymphoblastic 3	Enrichment	NF1	0.69
723	Perrault syndrome 2	Enrichment	CLPP	0.69
724	Bilateral perisylvian polymicrogyria	Enrichment	WFS1	0.69
725	Hypogonadotropic hypogonadism	Enrichment	KISS1R	0.69
726	Congenital central hypoventilation syndrome	Enrichment	RET	0.69
727	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	SCN5A	0.69
728	Juvenile amyotrophic lateral sclerosis	Enrichment	SIGMAR1	0.69
729	Hydrops fetalis	Enrichment	L1CAM	0.69
730	Renal agenesis, bilateral	Enrichment	RET	0.69
731	Cat eye syndrome	Enrichment	TFAP2A	0.65
732	Leukemia, chronic lymphocytic	Enrichment	P2RX7	0.65
733	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	TARDBP	0.65
734	Stroke, ischemic	Enrichment	NOTCH3	0.65
735	Neurodegeneration with brain iron accumulation	Enrichment	ATP13A2	0.65
736	Nephrocalcinosis	Enrichment	SLC12A1	0.65
737	Autosomal non-syndromic agammaglobulinemia	Enrichment	LRRC8A	0.65
738	Migraine with or without aura 1	Enrichment	NOTCH3	0.61
739	Immune deficiency disease	Enrichment	RIPK1	0.61
740	Meningioma, familial	Enrichment	NF2	0.61
741	Diabetes mellitus	Enrichment	WFS1	0.61
742	Systemic lupus erythematosus	Enrichment	ITGAM, MECP2	0.59
743	Cerebral palsy	Enrichment	GPHN, GRIN2B	0.59
744	Digeorge syndrome	Enrichment	COMT	0.58
745	Renal hypodysplasia/aplasia 3	Enrichment	RET	0.58
746	Meningioma	Enrichment	NF2	0.58
747	Congenital long qt syndrome	Enrichment	SCN5A	0.58
748	Postsynaptic congenital myasthenic syndromes	Enrichment	SCN4A	0.58
749	Aortic valve disease 1	Enrichment	NOTCH1	0.55
750	Hypercholesterolemia, familial, 1	Enrichment	PCSK9	0.55
751	Acute promyelocytic leukemia	Enrichment	PRKAR1A	0.55
752	Multiple sclerosis	Enrichment	ITPR1	0.52
753	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	KISS1R	0.52
754	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	0.52
755	Lung cancer susceptibility 3	Enrichment	PRKN	0.52
756	Cataract	Enrichment	RHO	0.52
757	Congenital myasthenic syndrome	Enrichment	VAMP1	0.52
758	Cleft lip/palate	Enrichment	MSX1	0.52
759	Pituitary stalk interruption syndrome	Enrichment	KISS1R	0.52
760	Optic atrophy plus syndrome	Enrichment	SNAP25, WFS1	0.52
761	Anterior segment dysgenesis	Enrichment	ITPR1	0.50
762	Hermansky-pudlak syndrome	Enrichment	DTNBP1	0.50
763	Rare genetic intellectual disability	Enrichment	GNAO1	0.50
764	Male infertility with spermatogenesis disorder	Enrichment	DYRK1A	0.50
765	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	CASK	0.48
766	Hermansky-pudlak syndrome 1	Enrichment	DTNBP1	0.48
767	Wolff-parkinson-white syndrome	Enrichment	SCN5A	0.48
768	Hydrocephalus, congenital, 1	Enrichment	TUBB	0.48
769	Perrault syndrome 1	Enrichment	CLPP	0.48
770	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	SCN5A	0.48
771	Rhabdomyosarcoma	Enrichment	NF1	0.48
772	Isolated congenital microcephaly	Enrichment	CASK	0.48
773	Cardiomyopathy, dilated, 1e	Enrichment	SCN5A	0.45
774	Syndromic intellectual disability	Enrichment	SYT1	0.45
775	Charcot-marie-tooth disease type 4	Enrichment	NDRG1	0.43
776	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	KISS1R	0.43
777	Early-onset nuclear cataract	Enrichment	WFS1	0.43
778	Hypertelorism	Enrichment	RET, TFAP2A	0.42
779	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	TNC, WFS1	0.42
780	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	NEFL	0.42
781	Congenital myopathy	Enrichment	SCN4A	0.42
782	Williams-beuren syndrome	Enrichment	STX1A	0.40
783	Maturity-onset diabetes of the young	Enrichment	NEUROD1	0.40
784	Focal segmental glomerulosclerosis	Enrichment	TRPC6	0.40
785	Hereditary breast ovarian cancer syndrome	Enrichment	NF1, RIPK1	0.39
786	Myeloma, multiple	Enrichment	NF1, NKX2-1	0.38
787	Inherited cancer-predisposing syndrome	Enrichment	NF1, NF2, PRKAR1A, RET	0.37
788	Hepatocellular carcinoma	Enrichment	RET	0.37
789	Tooth agenesis	Enrichment	MSX1	0.37
790	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIA1, GRIN1	0.37
791	Primary ovarian insufficiency	Enrichment	NOTCH2, NTRK1	0.36
792	Cone dystrophy	Enrichment	SAG	0.34
793	Ovarian cancer	Enrichment	NTRK1, PRKN, RET	0.33
794	Jeune thoracic dystrophy	Enrichment	GRK2	0.33
795	Strabismus	Enrichment	STXBP1	0.30
796	Asphyxiating thoracic dystrophy	Enrichment	GRK2	0.29
797	Cone-rod dystrophy 2	Enrichment	GPHN, RHO	0.29
798	Bladder cancer	Enrichment	NF1	0.28
799	Hirschsprung disease 1	Enrichment	RET	0.28
800	Prostate cancer	Enrichment	EPHB2	0.28
801	Stargardt disease 1	Enrichment	GPHN	0.27
802	Lung cancer	Enrichment	PRKN	0.25
803	Cystic fibrosis	Enrichment	STX1A	0.25
804	Connective tissue disease	Enrichment	NOTCH1	0.25
805	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	GRK2	0.25
806	Cakut	Enrichment	TRAP1	0.24
807	Genetic steroid-resistant nephrotic syndrome	Enrichment	TRPC6	0.24
808	Left ventricular noncompaction	Enrichment	SCN5A	0.23
809	Eye disease	Enrichment	GPHN	0.23
810	Non-syndromic genetic deafness	Enrichment	WFS1	0.22
811	Myopathy	Enrichment	SCN4A	0.19
812	Bardet-biedl syndrome	Enrichment	COMT	0.18
813	Nonsyndromic hearing loss	Enrichment	WFS1	0.18
814	Gastric cancer	Enrichment	NF1	0.18
815	Nephrotic syndrome	Enrichment	TRPC6	0.18
816	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1	0.17
817	Hereditary breast carcinoma	Enrichment	RET	0.17
818	Breast cancer	Enrichment	RET	0.07
819	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.07
820	Hereditary retinal dystrophy	Enrichment	GPHN, NEUROD1, RHO, SAG, WFS1	0.07
821	Fundus dystrophy	Enrichment	GPHN, NEUROD1, RHO, SAG, WFS1	0.07
822	Rare genetic deafness	Enrichment	WFS1	0.06
823	Dilated cardiomyopathy	Enrichment	SCN5A	0.06
824	Colorectal cancer	Enrichment	RET	0.05
825	Retinitis pigmentosa	Enrichment	GPHN, RHO, SAG	0.04
826	Leber plus disease	Enrichment	GPHN	0.04

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

Neuroscience

Pathway Network for Neuroscience

Member Pathways for Neuroscience

Pathways in the Neuroscience SuperPath

Associated Genes for Neuroscience

Associated Disorders for Neuroscience

Disorders associated with Neuroscience SuperPath

STRING Interaction Network for Neuroscience

Sources for Neuroscience