Fragile X syndrome

No Pathway Network information available for Fragile X syndrome

Pathways in the Fragile X syndrome SuperPath

#	Name	Source	Genes
1	Fragile X syndrome	WikiPathways	ABAT ABCD3 AGAP2 AGO2 AKAP5 AKT1 AKT1S1 ALDH3A2 ALDH5A1 AP2A1 AP2B1 AP2M1 AP2S1 APP ARAF ARC ARHGAP32 BDNF BRAF CAMK1 CAMK2A CAMK2B CAMK4 CDKN2A CLTA CLTB CLTC CLTCL1 CNR1 CPT1A CREB1 CYFIP1 CYFIP2 DAG1 DEPTOR DICER1 DLG4 DLGAP3 DNM2 DUSP3 EEF1A1 EIF4A1 EIF4E EIF4EBP2 EIF4G1 EPHA4 EPS8L1 FMR1 FYN GAB1 GABRA1 GABRB2 GABRD GABRG2 GAD1 GPHN GRB2 GRIA1 GRIA2 GRIN1 GRIN2A GRIN2B GRIP1 GRIP2 GRM1 GRM5 HCN1 HOMER1 HOXB8 ITPR1 KCNC1 KCND2 KRAS LOC105372522 MAP1B MAP1LC3B MAP2K1 MAP2K2 MAPK1 MECP2 MKNK1 MLST8 MMP9 MTOR NF1 NTRK2 PDK1 PICK1 PIK3CB PLCG1 PPP1CA PPP2R5B PPP3CA PRKACA PRKAR1A PRKCA PTEN PTPN11 PTPN5 RAF1 RAP1GAP RHEB RPS6KB1 RPTOR SH3GL1 SH3GL3 SHANK1 SHC1 SLC16A1 SLC6A1 SOS1 SRC SYNGAP1 TARBP2 TBC1D7-LOC100130357 TECR TELO2 TSC1 TSC2 TTI1 (see all 120) (see less)
2	Pilocytic astrocytoma	WikiPathways	BRAF GRB2 NF1 PTPN11 RAF1 SOS1 (see all 6) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
2	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
3	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
4	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	2
5	NF1	Neurofibromin 1	Protein Coding	2
6	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
7	MAP1LC3B	Microtubule Associated Protein 1 Light Chain 3 Beta	Protein Coding	1
8	GRIP1	Glutamate Receptor Interacting Protein 1	Protein Coding	1
9	TELO2	Telomere Maintenance 2	Protein Coding	1
10	TECR	Trans-2,3-Enoyl-CoA Reductase	Protein Coding	1
11	AKAP5	A-Kinase Anchoring Protein 5	Protein Coding	1
12	PICK1	Protein Interacting With PRKCA 1	Protein Coding	1
13	HOMER1	Homer Scaffold Protein 1	Protein Coding	1
14	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	1
15	MKNK1	MAPK Interacting Serine/Threonine Kinase 1	Protein Coding	1
16	PTPN5	Protein Tyrosine Phosphatase Non-Receptor Type 5	Protein Coding	1
17	AKT1S1	AKT1 Substrate 1	Protein Coding	1
18	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	1
19	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
20	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	1
21	ALDH5A1	Aldehyde Dehydrogenase 5 Family Member A1	Protein Coding	1
22	TSC2	TSC Complex Subunit 2	Protein Coding	1
23	TSC1	TSC Complex Subunit 1	Protein Coding	1
24	TARBP2	TARBP2 Subunit Of RISC Loading Complex	Protein Coding	1
25	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
26	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	1
27	SLC6A1	Solute Carrier Family 6 Member 1	Protein Coding	1
28	SHC1	SHC Adaptor Protein 1	Protein Coding	1
29	SH3GL1	SH3 Domain Containing GRB2 Like 1, Endophilin A2	Protein Coding	1
30	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	1
31	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
32	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	1
33	RAP1GAP	RAP1 GTPase Activating Protein	Protein Coding	1
34	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	1
35	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	1
36	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
37	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
38	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	1
39	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
40	PRKCA	Protein Kinase C Alpha	Protein Coding	1
41	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
42	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
43	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	1
44	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
45	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
46	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	1
47	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
48	MMP9	Matrix Metallopeptidase 9	Protein Coding	1
49	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	1
50	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
51	KCND2	Potassium Voltage-Gated Channel Subfamily D Member 2	Protein Coding	1
52	KCNC1	Potassium Voltage-Gated Channel Subfamily C Member 1	Protein Coding	1
53	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
54	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
55	APP	Amyloid Beta Precursor Protein	Protein Coding	1
56	HCN1	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1	Protein Coding	1
57	HOXB8	Homeobox B8	Protein Coding	1
58	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	1
59	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	1
60	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	1
61	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	1
62	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
63	GRIA2	Glutamate Ionotropic Receptor AMPA Type Subunit 2	Protein Coding	1
64	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	1
65	AGO2	Argonaute RISC Catalytic Component 2	Protein Coding	1
66	GAD1	Glutamate Decarboxylase 1	Protein Coding	1
67	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2	Protein Coding	1
68	GABRD	Gamma-Aminobutyric Acid Type A Receptor Subunit Delta	Protein Coding	1
69	GABRB2	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2	Protein Coding	1
70	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	1
71	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
72	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
73	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
74	DICER1	Dicer 1, Ribonuclease III	Protein Coding	1
75	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	1
76	ARC	Activity Regulated Cytoskeleton Associated Protein	Protein Coding	1
77	ALDH3A2	Aldehyde Dehydrogenase 3 Family Member A2	Protein Coding	1
78	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
79	EIF4G1	Eukaryotic Translation Initiation Factor 4 Gamma 1	Protein Coding	1
80	EIF4EBP2	Eukaryotic Translation Initiation Factor 4E Binding Protein 2	Protein Coding	1
81	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	1
82	EIF4A1	Eukaryotic Translation Initiation Factor 4A1	Protein Coding	1
83	EEF1A1	Eukaryotic Translation Elongation Factor 1 Alpha 1	Protein Coding	1
84	DUSP3	Dual Specificity Phosphatase 3	Protein Coding	1
85	ABAT	4-Aminobutyrate Aminotransferase	Protein Coding	1
86	DNM2	Dynamin 2	Protein Coding	1
87	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	1
88	DAG1	Dystroglycan 1	Protein Coding	1
89	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
90	CPT1A	Carnitine Palmitoyltransferase 1A	Protein Coding	1
91	CNR1	Cannabinoid Receptor 1	Protein Coding	1
92	CLTC	Clathrin Heavy Chain	Protein Coding	1
93	CLTB	Clathrin Light Chain B	Protein Coding	1
94	AP2S1	Adaptor Related Protein Complex 2 Subunit Sigma 1	Protein Coding	1
95	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	1
96	GPHN	Gephyrin	Protein Coding	1
97	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	1
98	AP2A1	Adaptor Related Protein Complex 2 Subunit Alpha 1	Protein Coding	1
99	ARHGAP32	Rho GTPase Activating Protein 32	Protein Coding	1
100	TTI1	TELO2 Interacting Protein 1	Protein Coding	1
101	CAMK1	Calcium/Calmodulin Dependent Protein Kinase I	Protein Coding	1
102	CLTA	Clathrin Light Chain A	Protein Coding	1
103	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	1
104	AGAP2	ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 2	Protein Coding	1
105	TBC1D7-LOC100130357	TBC1D7-LOC100130357 Readthrough	Protein Coding	1
106	LOC105372522	Uncharacterized LOC105372522	RNA Gene	1
107	CLTCL1	Clathrin Heavy Chain Like 1	Protein Coding	1
108	GRIP2	Glutamate Receptor Interacting Protein 2	Protein Coding	1
109	DEPTOR	DEP Domain Containing MTOR Interacting Protein	Protein Coding	1
110	SH3GL3	SH3 Domain Containing GRB2 Like 3, Endophilin A3	Protein Coding	1
111	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
112	DLGAP3	DLG Associated Protein 3	Protein Coding	1
113	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	1
114	PPP1CA	Protein Phosphatase 1 Catalytic Subunit Alpha	Protein Coding	1
115	EPS8L1	EPS8 Signaling Adaptor L1	Protein Coding	1
116	PDK1	Pyruvate Dehydrogenase Kinase 1	Protein Coding	1
117	MAP1B	Microtubule Associated Protein 1B	Protein Coding	1
118	CYFIP2	Cytoplasmic FMR1 Interacting Protein 2	Protein Coding	1
119	CYFIP1	Cytoplasmic FMR1 Interacting Protein 1	Protein Coding	1
120	EPHA4	EPH Receptor A4	Protein Coding	1

Disorders associated with Fragile X syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	BRAF, NF1, PTPN11, RAF1, SOS1	12.02
2	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, PTPN11, RAF1, SOS1	10.36
3	Noonan syndrome 1	Enrichment	BRAF, PTPN11, RAF1, SOS1	9.88
4	Noonan syndrome with multiple lentigines	Enrichment	BRAF, PTPN11, RAF1	9.62
5	Noonan syndrome 3	Enrichment	CLTC, KRAS, PTPN11, RAF1, SOS1	8.97
6	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	8.23
7	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	8.23
8	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	8.23
9	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	8.23
10	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B, CLTC, GRIA1, GRIN1, GRIN2B, PPP3CA, SLC6A1	7.93
11	Pulmonic stenosis	Enrichment	BRAF, SOS1	6.79
12	Pilomyxoid astrocytoma	Enrichment	BRAF, KRAS, NTRK2, RAF1	6.70
13	Autism spectrum disorder	Enrichment	GRIA1, GRIN2B, MAP1B, MAP2K1, MECP2, NF1, PTEN, PTPN11, TSC2	6.30
14	Undetermined early-onset epileptic encephalopathy	Enrichment	CLTC, CYFIP2, GABRB2, GABRG2, HCN1, NTRK2, PPP3CA	6.24
15	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, RAF1	5.34
16	Bladder cancer	Enrichment	CDKN2A, KRAS, NF1, PTEN, TSC1	5.30
17	Hemimegalencephaly	Enrichment	MTOR, PTEN, RHEB	5.18
18	Juvenile myelomonocytic leukemia	Enrichment	NF1, PTPN11	4.97
19	Inherited cancer-predisposing syndrome	Enrichment	CDKN2A, DICER1, NF1, PRKAR1A, PTEN, PTPN11, TSC1, TSC2	4.66
20	Myoclonic-atonic epilepsy	Enrichment	AP2M1, SLC6A1, SYNGAP1	4.26
21	Melanoma	Enrichment	BRAF, CDKN2A, PTEN	4.11
22	Lymphangioleiomyomatosis	Enrichment	TSC1, TSC2	4.11
23	Lung non-small cell carcinoma	Enrichment	BRAF, KRAS, MAP2K1	3.98
24	Generalized epilepsy with febrile seizures plus	Enrichment	GABRD, GABRG2, HCN1	3.64
25	Tuberous sclerosis 1	Enrichment	TSC1, TSC2	3.64
26	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1	3.64
27	Hamartoma	Enrichment	TSC1, TSC2	3.64
28	Myeloma, multiple	Enrichment	BRAF, NF1	3.60
29	Ovarian cancer	Enrichment	AKT1, CDKN2A, DICER1, KRAS, PTEN, TSC2	3.57
30	Rhabdomyosarcoma	Enrichment	DICER1, NF1, PTEN	3.46
31	Epilepsy	Enrichment	GABRA1, GRIN2A, GRIN2B, MECP2	3.38
32	Metachondromatosis	Enrichment	PTPN11	3.35
33	Noonan syndrome 5	Enrichment	RAF1	3.35
34	Noonan syndrome 4	Enrichment	SOS1	3.35
35	Noonan syndrome 7	Enrichment	BRAF	3.35
36	Leopard syndrome 3	Enrichment	BRAF	3.35
37	Leopard syndrome 1	Enrichment	PTPN11	3.35
38	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	3.35
39	Lymphangioma	Enrichment	BRAF	3.35
40	Phace association	Enrichment	BRAF	3.35
41	Leopard syndrome 2	Enrichment	RAF1	3.35
42	Trigonitis	Enrichment	RAF1	3.35
43	Plexiform neurofibroma	Enrichment	NF1	3.35
44	Neurofibroma	Enrichment	NF1	3.35
45	Neurofibromatosis	Enrichment	NF1	3.35
46	Chromosome 17q11.2 deletion syndrome	Enrichment	NF1	3.35
47	Optic nerve glioma	Enrichment	NF1	3.35
48	Syringocystadenoma papilliferum	Enrichment	BRAF	3.35
49	Ganglioglioma	Enrichment	BRAF	3.35
50	Nongerminomatous germ cell tumor	Enrichment	BRAF	3.35
51	Phace syndrome	Enrichment	BRAF	3.35
52	Classic hairy cell leukemia	Enrichment	BRAF	3.35
53	Malignant astrocytoma	Enrichment	PTPN11	3.35
54	Benign epilepsy with centrotemporal spikes	Enrichment	GABRG2, GRIN1, GRIN2A, SLC6A1	3.34
55	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2, NF1	3.34
56	Tuberous sclerosis	Enrichment	TSC1, TSC2	3.34
57	Embryonal rhabdomyosarcoma	Enrichment	DICER1, NF1	3.34
58	Pilocytic astrocytoma	Enrichment	KRAS, NF1	3.34
59	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	3.29
60	Centralopathic epilepsy	Enrichment	GABRG2, GRIN1, GRIN2A, SLC6A1	3.26
61	Gastric cancer	Enrichment	CDKN2A, KRAS, NF1, PTEN	3.26
62	West syndrome	Enrichment	GRIN1, GRIN2B, NTRK2, TSC2	3.22
63	Microcephaly	Enrichment	CAMK2B, GRIN2B, MAPK1, MECP2, PTPN11, SYNGAP1	3.11
64	Cafe-au-lait spots, multiple	Enrichment	NF1	3.05
65	Fibromatosis, gingival, 1	Enrichment	SOS1	3.05
66	Werner syndrome	Enrichment	PTPN11	3.05
67	Chromosome 17q11.2 duplication syndrome, 1.4-mb	Enrichment	NF1	3.05
68	Bardet-biedl syndrome 9	Enrichment	NF1	3.05
69	Pleomorphic rhabdomyosarcoma	Enrichment	NF1	3.05
70	Adrenocortical carcinoma	Enrichment	CDKN2A, PRKAR1A	2.94
71	Breast adenocarcinoma	Enrichment	AKT1, KRAS	2.94
72	Lung squamous cell carcinoma	Enrichment	CDKN2A, KRAS	2.94
73	Childhood absence epilepsy	Enrichment	GABRA1, GABRG2	2.94
74	Ataxia-telangiectasia	Enrichment	BRAF	2.88
75	Watson syndrome	Enrichment	NF1	2.88
76	Nuchal bleb, familial	Enrichment	SOS1	2.88
77	Neurofibromatosis, familial spinal	Enrichment	NF1	2.88
78	Chromosome 17q11.2 deletion syndrome, 1.4-mb	Enrichment	NF1	2.88
79	Tethered spinal cord syndrome	Enrichment	BRAF	2.88
80	Brain cancer	Enrichment	NF1	2.88
81	Tricuspid valve insufficiency	Enrichment	PTPN11	2.88
82	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, PTEN	2.80
83	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	2.80
84	Gallbladder cancer	Enrichment	BRAF, KRAS	2.80
85	Follicular thyroid carcinoma	Enrichment	BRAF, PTEN	2.80
86	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	2.75
87	Craniopharyngioma	Enrichment	BRAF	2.75
88	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	2.75
89	Newborn respiratory distress syndrome	Enrichment	BRAF	2.75
90	Middle aortic syndrome	Enrichment	NF1	2.75
91	Gingival fibromatosis	Enrichment	SOS1	2.75
92	Rhabdomyosarcoma 2	Enrichment	NF1	2.66
93	Lymphoma	Enrichment	PTPN11	2.66
94	Wilms tumor 5	Enrichment	BRAF	2.58
95	Patent ductus arteriosus	Enrichment	PTPN11	2.58
96	Adult hepatocellular carcinoma	Enrichment	TSC1, TSC2	2.57
97	Cowden syndrome	Enrichment	AKT1, PTEN	2.57
98	Dravet syndrome	Enrichment	GABRA1, GABRG2	2.48
99	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	2.45
100	Ewing sarcoma	Enrichment	NF1	2.45
101	Neurofibromatosis, type i	Enrichment	NF1	2.40
102	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	2.40
103	Leukemia, acute lymphoblastic 3	Enrichment	NF1	2.40
104	Primary hyperaldosteronism	Enrichment	BRAF	2.40
105	Ventricular septal defect	Enrichment	BRAF	2.40
106	Epilepsy, myoclonic juvenile	Enrichment	GABRA1, GABRD	2.39
107	Epilepsy, idiopathic generalized	Enrichment	GABRA1, GABRD	2.39
108	Specific learning disability	Enrichment	MAPK1, PTPN11	2.39
109	Breast cancer	Enrichment	AKT1, KRAS, PTEN, SHC1	2.36
110	Meningioma	Enrichment	AKT1, PTEN	2.32
111	Lip and oral cavity carcinoma	Enrichment	BRAF, CDKN2A	2.32
112	Pectus excavatum	Enrichment	PTPN11	2.31
113	Cerebral palsy	Enrichment	ALDH3A2, GPHN, GRIN2B	2.31
114	Epicanthus	Enrichment	PTPN11	2.28
115	Congenital long qt syndrome	Enrichment	PTPN11	2.28
116	Stereotypic movement disorder	Enrichment	MECP2, SYNGAP1	2.25
117	Aortic valve disease 1	Enrichment	SOS1	2.24
118	Pheochromocytoma	Enrichment	NF1	2.21
119	Lung cancer susceptibility 3	Enrichment	BRAF	2.21
120	46,xy partial gonadal dysgenesis	Enrichment	SOS1	2.21
121	Wilms tumor 1	Enrichment	BRAF	2.18
122	Hereditary breast carcinoma	Enrichment	AKT1, KRAS, PTEN	2.16
123	Melanoma, cutaneous malignant 1	Enrichment	BRAF	2.13
124	Dandy-walker syndrome	Enrichment	BRAF	2.13
125	Patent foramen ovale	Enrichment	PTPN11	2.10
126	Arteriovenous malformations of the brain	Enrichment	BRAF	2.08
127	Diffuse large b-cell lymphoma	Enrichment	BRAF	2.08
128	Proteus syndrome	Enrichment	AKT1	2.05
129	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.05
130	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	Enrichment	GRIN2A	2.05
131	Rhabdomyosarcoma, embryonal, 2	Enrichment	DICER1	2.05
132	Oculoectodermal syndrome	Enrichment	KRAS	2.05
133	Vacterl association with hydrocephalus	Enrichment	PTEN	2.05
134	Pallister-killian syndrome	Enrichment	ARAF	2.05
135	Hypocalciuric hypercalcemia, familial, type iii	Enrichment	AP2S1	2.05
136	Deafness, autosomal recessive 26	Enrichment	GAB1	2.05
137	Febrile seizures, familial, 8	Enrichment	GABRG2	2.05
138	Facial hypertrichosis	Enrichment	MECP2	2.05
139	Carney complex, type 1	Enrichment	PRKAR1A	2.05
140	Melorheostosis, isolated	Enrichment	MAP2K1	2.05
141	Epilepsy, idiopathic generalized 13	Enrichment	GABRA1	2.05
142	Parkinson disease 18, autosomal dominant	Enrichment	EIF4G1	2.05
143	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.05
144	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	2.05
145	Erythrocyte lactate transporter defect	Enrichment	SLC16A1	2.05
146	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	2.05
147	You-hoover-fong syndrome	Enrichment	TELO2	2.05
148	Intellectual developmental disorder, autosomal recessive 14	Enrichment	TECR	2.05
149	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	2.05
150	Epilepsy, progressive myoclonic 7	Enrichment	KCNC1	2.05
151	Spinocerebellar ataxia, autosomal recessive 13	Enrichment	GRM1	2.05
152	Noonan syndrome 13	Enrichment	MAPK1	2.05
153	Intellectual developmental disorder, x-linked, syndromic, lubs type	Enrichment	MECP2	2.05
154	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	2.05
155	Neurodevelopmental disorder with microcephaly and movement abnormalities	Enrichment	TTI1	2.05
156	Developmental and epileptic encephalopathy 74	Enrichment	GABRG2	2.05
157	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.05
158	Developmental and epileptic encephalopathy 91	Enrichment	PPP3CA	2.05
159	Autism x-linked 3	Enrichment	MECP2	2.05
160	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.05
161	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Enrichment	PPP3CA	2.05
162	Developmental and epileptic encephalopathy 89	Enrichment	GAD1	2.05
163	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.05
164	Autism 19	Enrichment	EIF4E	2.05
165	Epilepsy, idiopathic generalized 10	Enrichment	GABRD	2.05
166	Myxoma, intracardiac	Enrichment	PRKAR1A	2.05
167	Dicer1 syndrome	Enrichment	DICER1	2.05
168	Papillary tumor of the pineal region	Enrichment	PTEN	2.05
169	Gaba aminotransferase deficiency	Enrichment	ABAT	2.05
170	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.05
171	Developmental and epileptic encephalopathy 19	Enrichment	GABRA1	2.05
172	Deafness, autosomal dominant 83	Enrichment	MAP1B	2.05
173	Pleuropulmonary blastoma	Enrichment	DICER1	2.05
174	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	2.05
175	Cerebral amyloid angiopathy, app-related	Enrichment	APP	2.05
176	Gaba-transaminase deficiency	Enrichment	ABAT	2.05
177	Global developmental delay, lung cysts, overgrowth, and wilms tumor	Enrichment	DICER1	2.05
178	Melorheostosis	Enrichment	MAP2K1	2.05
179	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	2.05
180	Lethal congenital contracture syndrome 5	Enrichment	DNM2	2.05
181	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.05
182	Cowden syndrome 6	Enrichment	AKT1	2.05
183	Neurodevelopmental disorder with language impairment and behavioral abnormalities	Enrichment	GRIA2	2.05
184	Developmental and epileptic encephalopathy 24	Enrichment	HCN1	2.05
185	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.05
186	Syndromic x-linked intellectual disability lubs type	Enrichment	MECP2	2.05
187	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	2.05
188	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	2.05
189	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	2.05
190	Glioma susceptibility 2	Enrichment	PTEN	2.05
191	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	2.05
192	Developmental and epileptic encephalopathy 92	Enrichment	GABRB2	2.05
193	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.05
194	Bile acid synthesis defect, congenital, 5	Enrichment	ABCD3	2.05
195	Thrombocytopenia 6	Enrichment	SRC	2.05
196	Intellectual developmental disorder, autosomal dominant 67	Enrichment	GRIA1	2.05
197	Fraser syndrome 3	Enrichment	GRIP1	2.05
198	Spinocerebellar ataxia 44	Enrichment	GRM1	2.05
199	Generalized epilepsy with febrile seizures plus, type 10	Enrichment	HCN1	2.05
200	Malignant sertoli-leydig cell tumor of ovary	Enrichment	DICER1	2.05
201	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.05
202	Intellectual developmental disorder, autosomal recessive 76	Enrichment	GRIA1	2.05
203	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.05
204	Congenital insensitivity to pain with severe intellectual disability	Enrichment	CLTCL1	2.05
205	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	2.05
206	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	2.05
207	Landau-kleffner syndrome	Enrichment	GRIN2A	2.05
208	Congenital pulmonary airway malformation	Enrichment	KRAS	2.05
209	Supratentorial primitive neuroectodermal tumor	Enrichment	DICER1	2.05
210	Xq27.3q28 duplication syndrome	Enrichment	FMR1	2.05
211	Gynandroblastoma	Enrichment	DICER1	2.05
212	Dicer1 tumor predisposition	Enrichment	DICER1	2.05
213	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	2.05
214	Gria2-related neurodevelopmental disorder	Enrichment	GRIA2	2.05
215	Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation	Enrichment	GRIN2A	2.05
216	Grin2a-related disorders	Enrichment	GRIN2A	2.05
217	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	2.05
218	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.05
219	Chondromyxoid fibroma	Enrichment	GRM1	2.05
220	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	NF1	2.03
221	Skin disease	Enrichment	NF1	2.01
222	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.98
223	Scoliosis	Enrichment	PTPN11	1.98
224	Hydrops fetalis, nonimmune	Enrichment	PTPN11	1.94
225	Strabismus	Enrichment	PTPN11	1.92
226	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS, NF1, PTEN	1.90
227	Differentiated thyroid carcinoma	Enrichment	BRAF	1.89
228	Long qt syndrome 1	Enrichment	PTPN11	1.88
229	Non-immune hydrops fetalis	Enrichment	PTPN11	1.87
230	Lung cancer	Enrichment	BRAF	1.85
231	Congenital nervous system abnormality	Enrichment	CAMK2B, MECP2, PTEN, TSC2	1.84
232	Nervous system disease	Enrichment	CAMK2B, MECP2, PTEN, TSC2	1.84
233	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	1.84
234	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIA1, GRIN1, TECR	1.83
235	Left ventricular noncompaction	Enrichment	RAF1	1.81
236	Attention deficit-hyperactivity disorder	Enrichment	MAP1B, MECP2	1.80
237	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.75
238	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	1.75
239	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	1.75
240	Hyperekplexia 1	Enrichment	GPHN	1.75
241	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.75
242	Encephalopathy, neonatal severe, due to mecp2 mutations	Enrichment	MECP2	1.75
243	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.75
244	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	PRKAR1A	1.75
245	Premature ovarian failure 3	Enrichment	AGO2	1.75
246	Intellectual developmental disorder, autosomal recessive 5	Enrichment	SYNGAP1	1.75
247	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.75
248	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	1.75
249	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS	1.75
250	Goiter, multinodular 1, with or without sertoli-leydig cell tumors	Enrichment	DICER1	1.75
251	Monocarboxylate transporter 1 deficiency	Enrichment	SLC16A1	1.75
252	Carnitine palmitoyltransferase i deficiency	Enrichment	CPT1A	1.75
253	Retinal dystrophy, juvenile cataracts, and short stature syndrome	Enrichment	GPHN	1.75
254	Sjogren-larsson syndrome	Enrichment	ALDH3A2	1.75
255	Cebalid syndrome	Enrichment	MTOR	1.75
256	Usher syndrome, type iv	Enrichment	PRKAR1A	1.75
257	Intellectual developmental disorder, x-linked, syndromic 13	Enrichment	MECP2	1.75
258	Vertebral anomalies and variable endocrine and t-cell dysfunction	Enrichment	DICER1	1.75
259	Periventricular nodular heterotopia 9	Enrichment	MAP1B	1.75
260	Bilateral generalized polymicrogyria	Enrichment	GRIN1	1.75
261	Molybdenum cofactor deficiency, type c	Enrichment	GPHN	1.75
262	Intellectual developmental disorder, autosomal dominant 21	Enrichment	GRIN2A	1.75
263	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	1.75
264	X-linked intellectual disability-psychosis-macroorchidism syndrome	Enrichment	MECP2	1.75
265	Vulto-van silfhout-de vries syndrome	Enrichment	DLG4	1.75
266	Acrodysostosis	Enrichment	PRKAR1A	1.75
267	Pineoblastoma	Enrichment	DICER1	1.75
268	Metaphyseal anadysplasia 2	Enrichment	MMP9	1.75
269	Fibrolamellar carcinoma	Enrichment	PRKACA	1.75
270	Hyperinsulinemic hypoglycemia, familial, 7	Enrichment	SLC16A1	1.75
271	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	AP2M1	1.75
272	Smith-kingsmore syndrome	Enrichment	MTOR	1.75
273	Slc6a1-related neurodevelopmental disorder	Enrichment	SLC6A1	1.75
274	Metaphyseal anadysplasia	Enrichment	MMP9	1.75
275	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.75
276	Rolandic epilepsy-speech dyspraxia syndrome	Enrichment	GRIN2A	1.75
277	Vacterl with hydrocephalus	Enrichment	PTEN	1.75
278	Ketoacidosis due to monocarboxylate transporter-1 deficiency	Enrichment	SLC16A1	1.75
279	Malignant granulosa cell tumor of the ovary	Enrichment	DICER1	1.75
280	Juvenile polyposis of infancy	Enrichment	PTEN	1.75
281	Tafro syndrome	Enrichment	MAP2K2	1.75
282	Progressive bulbar palsy	Enrichment	MECP2	1.75
283	Epilepsy-aphasia spectrum	Enrichment	GRIN2A	1.75
284	Bruxism	Enrichment	MECP2	1.75
285	Hypertrophic cardiomyopathy	Enrichment	PTPN11	1.72
286	Pancreatic cancer	Enrichment	CDKN2A, KRAS	1.69
287	Thrombocytopenia	Enrichment	PTPN11	1.68
288	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	1.63
289	Complex neurodevelopmental disorder	Enrichment	AGO2, DLG4, GRIN2B, SYNGAP1	1.62
290	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	PTPN11	1.61
291	Laryngomalacia	Enrichment	MECP2	1.58
292	Gillespie syndrome	Enrichment	ITPR1	1.58
293	Succinic semialdehyde dehydrogenase deficiency	Enrichment	ALDH5A1	1.58
294	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.58
295	Heart defects, congenital, and other congenital anomalies	Enrichment	DLG4	1.58
296	Myopathy, centronuclear, x-linked	Enrichment	DNM2	1.58
297	Leber congenital amaurosis 13	Enrichment	GPHN	1.58
298	Intellectual developmental disorder, autosomal dominant 5	Enrichment	SYNGAP1	1.58
299	Chromosome 5q14.3 deletion syndrome, distal	Enrichment	MAP1B	1.58
300	Tuberous sclerosis 2	Enrichment	TSC2	1.58
301	Macrocephaly/megalencephaly syndrome, autosomal recessive	Enrichment	TBC1D7-LOC100130357	1.58
302	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	1.58
303	Glycosylphosphatidylinositol biosynthesis defect 17	Enrichment	GPHN	1.58
304	Developmental and epileptic encephalopathy 65	Enrichment	CYFIP2	1.58
305	Intellectual developmental disorder, autosomal dominant 62	Enrichment	DLG4	1.58
306	Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures	Enrichment	DLG4	1.58
307	Xanthinuria, type ii	Enrichment	TSC2	1.58
308	Pyloric stenosis	Enrichment	MAP1B	1.58
309	Developmental and epileptic encephalopathy 94	Enrichment	SLC6A1	1.58
310	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.58
311	Dlg4-related synaptopathy	Enrichment	DLG4	1.58
312	Lessel-kreienkamp syndrome	Enrichment	AGO2	1.58
313	Arachnoid cyst	Enrichment	GPHN	1.58
314	Melanoma of soft tissue	Enrichment	CREB1	1.58
315	Schimmelpenning-feuerstein-mims syndrome	Enrichment	KRAS	1.46
316	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.46
317	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DLG4	1.46
318	Astigmatism	Enrichment	GRIN2B	1.46
319	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.46
320	Fragile x tremor/ataxia syndrome	Enrichment	FMR1	1.46
321	Carney complex variant	Enrichment	PRKAR1A	1.46
322	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.46
323	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.46
324	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	Enrichment	GAD1	1.46
325	Developmental and epileptic encephalopathy 70	Enrichment	TBC1D7-LOC100130357	1.46
326	Macular dystrophy with or without cone dysfunction	Enrichment	GPHN	1.46
327	Fragile x-associated tremor/ataxia syndrome	Enrichment	FMR1	1.46
328	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	GABRG2	1.46
329	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.46
330	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS	1.46
331	Color blindness	Enrichment	HCN1	1.46
332	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	1.46
333	Spastic quadriplegic cerebral palsy	Enrichment	GAD1	1.46
334	Sick sinus syndrome	Enrichment	MECP2	1.46
335	Glioma	Enrichment	PTEN	1.46
336	Colorectal cancer	Enrichment	BRAF	1.42
337	Dystonia	Enrichment	CAMK2B, MECP2	1.42
338	Premature ovarian failure 1	Enrichment	FMR1	1.36
339	Fragile x syndrome	Enrichment	FMR1	1.36
340	Macrocephaly/autism syndrome	Enrichment	PTEN	1.36
341	Hyperekplexia	Enrichment	GPHN	1.36
342	Hemangioma	Enrichment	PTEN	1.36
343	Acute megakaryocytic leukemia	Enrichment	PTEN	1.36
344	Sleep disorder	Enrichment	GRIN2B	1.36
345	Leukemia, acute myeloid	Enrichment	KRAS, SH3GL1	1.31
346	Angelman syndrome	Enrichment	MECP2	1.28
347	Li-fraumeni syndrome	Enrichment	CDKN2A	1.28
348	Myopathy, centronuclear, 1	Enrichment	DNM2	1.28
349	Cowden syndrome 1	Enrichment	PTEN	1.28
350	Fraser syndrome 1	Enrichment	GRIP1	1.28
351	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	1.28
352	Anxiety	Enrichment	GPHN	1.28
353	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.28
354	Inflammatory myofibroblastic tumor	Enrichment	CLTC	1.28
355	Keratoconus	Enrichment	TSC1	1.28
356	Early myoclonic encephalopathy	Enrichment	KCND2	1.28
357	Oculopharyngodistal myopathy 1	Enrichment	ABCD3	1.22
358	Nevus, epidermal	Enrichment	KRAS	1.22
359	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.22
360	Myelofibrosis	Enrichment	SRC	1.22
361	Squamous cell carcinoma, head and neck	Enrichment	PTEN	1.22
362	Rett syndrome	Enrichment	MECP2	1.22
363	Leukemia, chronic myeloid	Enrichment	KRAS	1.22
364	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.22
365	Alzheimer's disease 1	Enrichment	APP	1.22
366	Polycystic kidney disease 1	Enrichment	TSC2	1.22
367	Renal cell carcinoma with mit translocations	Enrichment	CLTC	1.22
368	Focal epilepsy	Enrichment	MECP2	1.22
369	Overgrowth syndrome	Enrichment	MTOR	1.22
370	Early-onset autosomal dominant alzheimer disease	Enrichment	APP	1.22
371	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	CDKN2A	1.22
372	Rett syndrome, congenital variant	Enrichment	MECP2	1.16
373	Lennox-gastaut syndrome	Enrichment	GABRG2	1.16
374	Male infertility due to globozoospermia	Enrichment	PICK1	1.16
375	Ellis-van creveld syndrome	Enrichment	PRKACA	1.11
376	Arteriovenous malformation	Enrichment	MAP2K1	1.11
377	Congenital central hypoventilation syndrome	Enrichment	BDNF	1.11
378	Myopathy, x-linked, with excessive autophagy	Enrichment	MAP2K1	1.07
379	Meningioma, familial	Enrichment	PTEN	1.03
380	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.03
381	Uterine corpus cancer	Enrichment	PTEN	1.03
382	Acute promyelocytic leukemia	Enrichment	PRKAR1A	0.96
383	Alzheimer's disease	Enrichment	APP	0.96
384	Chromosome 1p36 deletion syndrome	Enrichment	GABRD	0.96
385	Nk-cell enteropathy	Enrichment	PIK3CB	0.96
386	Multiple sclerosis	Enrichment	ITPR1	0.93
387	Osteoporosis	Enrichment	SRC	0.93
388	Periventricular nodular heterotopia	Enrichment	MAP1B	0.93
389	Walker-warburg syndrome	Enrichment	DAG1	0.93
390	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	0.90
391	Anterior segment dysgenesis	Enrichment	ITPR1	0.90
392	Lynch syndrome	Enrichment	KRAS	0.90
393	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.90
394	Kidney disease	Enrichment	TSC1	0.90
395	Rare genetic intellectual disability	Enrichment	MTOR	0.90
396	Creatine phosphokinase, elevated serum	Enrichment	DAG1	0.88
397	Isolated elevated serum creatine phosphokinase levels	Enrichment	DAG1	0.88
398	Alzheimer disease, familial, 1	Enrichment	APP	0.85
399	Heart, malformation of	Enrichment	MAPK1	0.83
400	Early infantile developmental and epileptic encephalopathy	Enrichment	GRIN1	0.83
401	Craniosynostosis	Enrichment	GRIN2B	0.79
402	Endometrial cancer	Enrichment	PTEN	0.77
403	Centronuclear myopathy	Enrichment	DNM2	0.77
404	Precursor t-cell acute lymphoblastic leukemia	Enrichment	CDKN2A	0.73
405	Parkinson disease, late-onset	Enrichment	EIF4G1	0.72
406	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1	0.70
407	Prostate cancer	Enrichment	PTEN	0.64
408	Stargardt disease 1	Enrichment	GPHN	0.63
409	Eye disease	Enrichment	GPHN	0.57
410	Non-syndromic x-linked intellectual disability	Enrichment	MECP2	0.56
411	Developmental and epileptic encephalopathy	Enrichment	HCN1	0.56
412	Fetal akinesia deformation sequence 1	Enrichment	ALDH5A1	0.55
413	Systemic lupus erythematosus	Enrichment	MECP2	0.53
414	Myopathy	Enrichment	DNM2	0.52
415	Charcot-marie-tooth disease	Enrichment	DNM2	0.51
416	Distal arthrogryposis	Enrichment	ALDH5A1	0.51
417	Body mass index quantitative trait locus 11	Enrichment	BDNF	0.44
418	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MAP1B	0.43
419	Spastic ataxia	Enrichment	ITPR1	0.42
420	Schizophrenia	Enrichment	GABRB2	0.39
421	Cone-rod dystrophy 2	Enrichment	GPHN	0.34
422	Autism	Enrichment	MECP2	0.32
423	Leber plus disease	Enrichment	GPHN	0.24
424	Retinitis pigmentosa	Enrichment	GPHN	0.07
425	Hereditary retinal dystrophy	Enrichment	GPHN	0.03
426	Fundus dystrophy	Enrichment	GPHN	0.03

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

Fragile X syndrome

Pathway Network for Fragile X syndrome

Member Pathways for Fragile X syndrome

Pathways in the Fragile X syndrome SuperPath

Associated Genes for Fragile X syndrome

Associated Disorders for Fragile X syndrome

Disorders associated with Fragile X syndrome SuperPath

STRING Interaction Network for Fragile X syndrome

Sources for Fragile X syndrome