MAPK signaling pathway

No Pathway Network information available for MAPK signaling pathway

Pathways in the MAPK signaling pathway SuperPath

#NameSourceGenes
1MAPK signaling pathwayWikiPathways
(see all 244) (see less)

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

Disorders associated with MAPK signaling pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RASA2, RRAS, RRAS2, SOS1, SOS211.25
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS110.16
4Lung non-small cell carcinomaEnrichmentBRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS7.86
5Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF17.43
6Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K26.99
7Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K26.99
8Lung cancer susceptibility 3EnrichmentBRAF, EGFR, FGF10, KRAS, TP535.50
9Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS5.47
10Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS15.47
11Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.24
12Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.24
13Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF15.17
14Bladder cancerEnrichmentEGFR, FGFR3, HRAS, KRAS, NF1, TP534.97
15Loeys-dietz syndromeEnrichmentTGFB2, TGFB3, TGFBR1, TGFBR24.92
16Lung cancerEnrichmentBRAF, EGFR, FAS, FASLG, KRAS, MAP3K84.71
17Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.64
18Juvenile myelomonocytic leukemiaEnrichmentKRAS, NF1, NRAS, RRAS4.35
19Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, HRAS, TP534.35
20Hemifacial hyperplasiaEnrichmentFGFR2, FGFR3, FLNC4.25
21Breast adenocarcinomaEnrichmentAKT1, KRAS, TP533.96
22Lung squamous cell carcinomaEnrichmentEGFR, FGFR3, KRAS3.96
23Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS, NTRK13.82
24GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, TP533.80
25Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS3.72
26Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, RASA13.72
27Gallbladder cancerEnrichmentBRAF, KRAS, TP533.72
28Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS3.72
29Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, TP533.69
30Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP6, FGF17, FGF8, FGFR13.59
31Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, KRAS, MAP4K43.49
32Cervical cancerEnrichmentFGFR3, TP533.49
33Pulmonic stenosisEnrichmentBRAF, SOS13.49
34Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.49
35Pfeiffer syndromeEnrichmentFGFR1, FGFR23.49
36Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.49
37Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.49
38Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.49
39Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.49
40Cervix carcinomaEnrichmentFGFR3, TP533.49
41Pleomorphic rhabdomyosarcomaEnrichmentNF1, TP533.49
42Arteriovenous malformationEnrichmentHRAS, MAP2K1, RASA13.35
43Primary hyperaldosteronismEnrichmentBRAF, CACNA1H, TP533.35
44Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, FGF12, NTRK2, PPP3CA3.31
45Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR23.20
46Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, RASA13.20
47Kallmann syndromeEnrichmentDUSP6, FGF17, FGF8, FGFR13.16
48Crouzon syndromeEnrichmentFGFR2, FGFR33.02
49Larsen syndromeEnrichmentFGFR3, FLNB3.02
50Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.02
51Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR23.02
52Frontometaphyseal dysplasiaEnrichmentFLNA, MAP3K73.02
53SpermatocytomaEnrichmentFGFR3, HRAS3.02
54Gastric cancerEnrichmentFGFR2, IL1B, KRAS, NF1, TP533.00
55Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFLNA, TGFB2, TGFB3, TGFBR1, TGFBR22.96
56Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS, MAP3K62.72
57Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP532.72
58Autoimmune lymphoproliferative syndromeEnrichmentFAS, FASLG2.72
59Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF12.72
60Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK12.72
61Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.72
62Lung sarcomatoid carcinomaEnrichmentKRAS, TP532.72
63Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.72
64Embryonal rhabdomyosarcomaEnrichmentNF1, TP532.72
65Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.72
66Pilocytic astrocytomaEnrichmentKRAS, NF12.72
67Ovarian cancerEnrichmentAKT1, EGFR, KRAS, MAP3K1, NTRK1, RRAS2, TP532.64
68RhabdomyosarcomaEnrichmentHRAS, NF1, TP532.57
69Rhabdomyosarcoma 2EnrichmentNF1, TP532.51
70HoloprosencephalyEnrichmentFGF8, FGFR12.51
71Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRB2.51
72Myeloma, multipleEnrichmentBRAF, FGFR3, KRAS, NF1, TP532.49
73Patent foramen ovaleEnrichmentFLNA, FLNC, TAB22.42
74Split-hand/foot malformation 1EnrichmentFGFR2, MAP3K202.34
75Holoprosencephaly 1EnrichmentFGF8, FGFR12.34
76Colorectal cancerEnrichmentAKT1, BRAF, FGFR2, FGFR3, NRAS, TP532.32
77Esophageal cancerEnrichmentTGFBR2, TP532.20
78Squamous cell carcinoma, head and neckEnrichmentEGFR, TP532.20
79Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.20
80Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK12.20
81Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.20
82MalariaEnrichmentIKBKG, MAPKAPK3, TNF2.11
83Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.08
84Fanconi anemia, complementation group cEnrichmentFLNA, TAOK12.08
85Lymphoma, non-hodgkin, familialEnrichmentBRAF, TP532.08
86Lennox-gastaut syndromeEnrichmentCACNA1A, MAPK102.08
87Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.97
88Adult hepatocellular carcinomaEnrichmentEGF, TP531.97
89Ventricular septal defectEnrichmentBRAF, RPS6KA31.97
90Breast cancerEnrichmentAKT1, CACNA2D1, JUN, KRAS, TP531.95
91Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, PPP3CA, TAOK11.91
92Migraine with or without aura 1EnrichmentCACNA1A, TAB21.80
93Specific learning disabilityEnrichmentMAPK1, RPS6KA31.80
94Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.75
95HypochondroplasiaEnrichmentFGFR31.75
96Boomerang dysplasiaEnrichmentFLNB1.75
97Proteus syndromeEnrichmentAKT11.75
98Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.75
99Osteoglophonic dysplasiaEnrichmentFGFR11.75
100Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.75
101Cystic angiomatosis of bone, diffuseEnrichmentRASA11.75
102Thanatophoric dysplasia, type iEnrichmentFGFR31.75
103Thyrotoxic periodic paralysis 1EnrichmentCACNA1S1.75
104Trigonocephaly 1EnrichmentFGFR11.75
105Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.75
106Spinocerebellar ataxia 27aEnrichmentFGF141.75
107Coffin-lowry syndromeEnrichmentRPS6KA31.75
108Oculoectodermal syndromeEnrichmentKRAS1.75
109Muenke syndromeEnrichmentFGFR31.75
110Pallister-killian syndromeEnrichmentARAF1.75
111Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.75
112Incontinentia pigmentiEnrichmentIKBKG1.75
113Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.75
114Otopalatodigital syndrome, type iEnrichmentFLNA1.75
115Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA1.75
116Noonan syndrome 5EnrichmentRAF11.75
117Hypomagnesemia 4, renalEnrichmentEGF1.75
118Noonan syndrome 4EnrichmentSOS11.75
119Epilepsy, idiopathic generalized 9EnrichmentCACNB41.75
120Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.75
121Brugada syndrome 4EnrichmentCACNB21.75
122Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.75
123Melorheostosis, isolatedEnrichmentMAP2K11.75
124Noonan syndrome 7EnrichmentBRAF1.75
125Leopard syndrome 3EnrichmentBRAF1.75
126Apert syndromeEnrichmentFGFR21.75
127Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.75
128Atelosteogenesis, type iiiEnrichmentFLNB1.75
129Cardiomyopathy, dilated, 1nnEnrichmentRAF11.75
130Atelosteogenesis, type iEnrichmentFLNB1.75
131Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.75
132Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.75
133Myofibromatosis, infantile, 1EnrichmentPDGFRB1.75
134Melanosis, neurocutaneousEnrichmentNRAS1.75
135Thanatophoric dysplasia, type iiEnrichmentFGFR31.75
136Noonan syndrome 9EnrichmentSOS21.75
137Bleeding disorder, platelet-type, 18EnrichmentRASGRP21.75
138Noonan syndrome 6EnrichmentNRAS1.75
139Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.75
140Fetal encasement syndromeEnrichmentCHUK1.75
14146,xy sex reversal 6EnrichmentMAP3K11.75
142Episodic ataxia, type 5EnrichmentCACNB41.75
143Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.75
144Frontometaphyseal dysplasia 2EnrichmentMAP3K71.75
145Aplasia of lacrimal and salivary glandsEnrichmentFGF101.75
146Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.75
147Bent bone dysplasia syndrome 1EnrichmentFGFR21.75
148Noonan syndrome 11EnrichmentMRAS1.75
149Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP11.75
150Immunodeficiency 15bEnrichmentIKBKB1.75
151Developmental delay with or without intellectual impairment or behavioral abnormalitiesEnrichmentTAOK11.75
152Noonan syndrome 13EnrichmentMAPK11.75
153Myopathy, centronuclear, 6, with fiber-type disproportionEnrichmentMAP3K201.75
154Developmental and epileptic encephalopathy 58EnrichmentNTRK21.75
155Immunodeficiency 15aEnrichmentIKBKB1.75
156Intellectual developmental disorder, x-linked 110EnrichmentFGF131.75
157Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.75
158Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I1.75
159Knobloch syndrome 2EnrichmentPAK21.75
160Congenital myopathy 18EnrichmentCACNA1S1.75
161Terminal osseous dysplasiaEnrichmentFLNA1.75
162Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.75
163Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.75
164Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.75
165Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.75
166Bone marrow failure syndrome 5EnrichmentTP531.75
167Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.75
168Fg syndrome 2EnrichmentFLNA1.75
169Papilloma of choroid plexusEnrichmentTP531.75
170Parkinson-dementia syndromeEnrichmentMAPT1.75
171Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F1.75
172Basal cell carcinoma 7EnrichmentTP531.75
173Immunodeficiency 110 with lymphoproliferationEnrichmentSTK41.75
174Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.75
175Retinal cone dystrophy 4EnrichmentCACNA2D41.75
176Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.75
177Anaplastic thyroid carcinomaEnrichmentTP531.75
178Developmental and epileptic encephalopathy 90EnrichmentFGF131.75
179Cardioacrofacial dysplasia 2EnrichmentPRKACB1.75
180Supranuclear palsy, progressive, 1EnrichmentMAPT1.75
181Metacarpal 4-5 fusionEnrichmentFGF161.75
182Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.75
183Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.75
184Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.75
185Familial isolated trichomegalyEnrichmentFGF51.75
186Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.75
187Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D1.75
188Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.75
189LymphangiomaEnrichmentBRAF1.75
190Epilepsy, childhood absence 6EnrichmentCACNA1H1.75
191Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.75
192Camurati-engelmann disease 2EnrichmentTGFB21.75
193Progressive supranuclear palsyEnrichmentMAPT1.75
194Malignant hyperthermia 5EnrichmentCACNA1S1.75
195Phace associationEnrichmentBRAF1.75
196Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB11.75
197Spinocerebellar ataxia 14EnrichmentPRKCG1.75
198Otopalatodigital syndrome spectrum disorderEnrichmentFLNA1.75
199MelorheostosisEnrichmentMAP2K11.75
200Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.75
201Leopard syndrome 2EnrichmentRAF11.75
202Multiple synostoses syndrome 3EnrichmentFGF91.75
203Glaucoma 1, open angle, oEnrichmentNTF41.75
204Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG21.75
205Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D1.75
206Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.75
207Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.75
208Multiple sclerosis 5EnrichmentTNFRSF1A1.75
209Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.75
210Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.75
211Polydactyly-macrocephaly syndromeEnrichmentMAX1.75
212Cowden syndrome 6EnrichmentAKT11.75
213Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP61.75
214Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.75
215Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.75
216Neurocardiofaciodigital syndromeEnrichmentMAPKAPK51.75
217Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.75
218Spinocerebellar ataxia 42EnrichmentCACNA1G1.75
219Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.75
220Developmental and epileptic encephalopathy 110EnrichmentCACNA2D11.75
221Macular dystrophy, patterned, 3EnrichmentMAPKAPK31.75
222Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.75
223Ductal carcinoma in situEnrichmentTP531.75
224Kosaki overgrowth syndromeEnrichmentPDGFRB1.75
225Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.75
226Hartsfield syndromeEnrichmentFGFR11.75
227Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G1.75
228Loeys-dietz syndrome 5EnrichmentTGFB31.75
229Renal hypodysplasia/aplasia 2EnrichmentFGF201.75
230Cardioacrofacial dysplasia 1EnrichmentPRKACA1.75
231Developmental and epileptic encephalopathy 69EnrichmentCACNA1E1.75
232Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.75
233Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.75
234X-linked ehlers-danlos syndromeEnrichmentFLNA1.75
235Takenouchi-kosaki syndromeEnrichmentCDC421.75
236Hyperaldosteronism, familial, type ivEnrichmentCACNA1H1.75
237Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.75
238Immunodeficiency 53EnrichmentRELB1.75
239Bartsocas-papas syndrome 2EnrichmentCHUK1.75
240Epilepsy, familial adult myoclonic, 7EnrichmentRAPGEF21.75
241Classic progressive supranuclear palsy syndromeEnrichmentMAPT1.75
242Developmental and epileptic encephalopathy 47EnrichmentFGF121.75
243Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.75
244Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.75
245TrigonitisEnrichmentRAF11.75
246Thyroid gland undifferentiated carcinomaEnrichmentTP531.75
247Plexiform neurofibromaEnrichmentNF11.75
248Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.75
249NeurofibromaEnrichmentNF11.75
250Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.75
251Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.75
252Atypical progressive supranuclear palsy syndromeEnrichmentMAPT1.75
253Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.75
254Capillary hemangiomaEnrichmentAKT31.75
255Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.75
256NeurofibromatosisEnrichmentNF11.75
257Immunodeficiency 112EnrichmentMAP3K141.75
258Flnb-related disordersEnrichmentFLNB1.75
2595q14.3 microdeletion syndromeEnrichmentMEF2C1.75
260Chromosome 17q11.2 deletion syndromeEnrichmentNF11.75
261Conn's syndromeEnrichmentCACNA1H1.75
262Congenital pulmonary airway malformationEnrichmentKRAS1.75
263Optic nerve gliomaEnrichmentNF11.75
264Choroid plexus cancerEnrichmentTP531.75
265Immunodeficiency 64EnrichmentRASGRP11.75
266Gorham's diseaseEnrichmentRASA11.75
267Spinocerebellar ataxia type 27bEnrichmentFGF141.75
268Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.75
269Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.75
270Fgfr3-related chondrodysplasiaEnrichmentFGFR31.75
271Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP11.75
272Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.75
273Nocarh syndromeEnrichmentCDC421.75
274Sporadic hemiplegic migraineEnrichmentCACNA1A1.75
275Syringocystadenoma papilliferumEnrichmentBRAF1.75
276Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.75
277Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.75
278Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D1.75
279Pleomorphic xanthoastrocytomaEnrichmentTP531.75
280GangliogliomaEnrichmentBRAF1.75
281Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.75
282Nongerminomatous germ cell tumorEnrichmentBRAF1.75
283Phace syndromeEnrichmentBRAF1.75
284X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA1.75
285Phakomatosis pigmentokeratoticaEnrichmentHRAS1.75
286Mef2c-related disorderEnrichmentMEF2C1.75
287Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S1.75
288Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.75
289Classic hairy cell leukemiaEnrichmentBRAF1.75
290Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.75
291Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.75
292Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.75
293Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.75
294Interstitial lung disease specific to childhoodEnrichmentFGF101.75
295Neurocutaneous melanocytosisEnrichmentNRAS1.75
296Nik deficiencyEnrichmentMAP3K141.75
297Polyvalvular heart disease syndromeEnrichmentTAB21.75
298Akt2-related familial partial lipodystrophyEnrichmentAKT21.75
299Benign paroxysmal torticollis of infancyEnrichmentCACNA1A1.75
300MeningiomaEnrichmentAKT1, PDGFB1.72
301Connective tissue diseaseEnrichmentFGFR3, FLNB, TGFBR21.71
302Aortic valve disease 1EnrichmentSOS1, TAB21.66
303Alzheimer's diseaseEnrichmentMAPT, TNF1.66
304PheochromocytomaEnrichmentMAX, NF11.59
305Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D41.59
30646,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS11.59
307HydrocephalusEnrichmentFGFR2, PDGFRB1.54
308Lynch syndromeEnrichmentKRAS, TGFBR21.54
309Microform holoprosencephalyEnrichmentFGF8, FGFR11.48
310Lobar holoprosencephalyEnrichmentFGF8, FGFR11.48
311Leukemia, acute myeloidEnrichmentKRAS, NRAS, TP531.46
312Cafe-au-lait spots, multipleEnrichmentNF11.45
313Burkitt lymphomaEnrichmentMYC1.45
314Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.45
315Fibromatosis, gingival, 1EnrichmentSOS11.45
316Otodental dysplasiaEnrichmentFGF31.45
317Scoliosis, isolated 1EnrichmentMAPK71.45
318Adrenocortical carcinoma, hereditaryEnrichmentTP531.45
319Camurati-engelmann disease 1EnrichmentTGFB11.45
320Costello syndromeEnrichmentHRAS1.45
321Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.45
322TrichomegalyEnrichmentFGF51.45
323Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA1.45
324Otopalatodigital syndrome, type iiEnrichmentFLNA1.45
325Melnick-needles syndromeEnrichmentFLNA1.45
326Pulmonary hypoplasia, primaryEnrichmentFGF101.45
327Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.45
328Dermatofibrosarcoma protuberansEnrichmentPDGFB1.45
329Immunodeficiency 33EnrichmentIKBKG1.45
330Frontometaphyseal dysplasia 1EnrichmentFLNA1.45
331Parkinson disease 8, autosomal dominantEnrichmentLRRK21.45
332Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.45
333MacroglossiaEnrichmentTAOK11.45
334Pick disease of brainEnrichmentMAPT1.45
335Microvascular complications of diabetes 5EnrichmentTGFBR21.45
336Aural atresia, congenitalEnrichmentFGFR21.45
337Keratosis, seborrheicEnrichmentFGFR31.45
338Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.45
339Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB11.45
340Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.45
341Lymphoma, hodgkin, classicEnrichmentTP531.45
342Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.45
343Immunodeficiency, common variable, 10EnrichmentNFKB21.45
344Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.45
345Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.45
346Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.45
347Neurodevelopmental disorder with or without variable brain abnormalitiesEnrichmentMAPK8IP31.45
348Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.45
349Noonan syndrome 12EnrichmentRRAS21.45
350Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.45
351Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentTAOK11.45
352Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF11.45
353Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.45
354Infantile myofibromatosisEnrichmentPDGFRB1.45
355Immunodeficiency 127EnrichmentTNF1.45
356Rela fusion-positive ependymomaEnrichmentRELA1.45
357Senior-loken syndrome 7EnrichmentAKT31.45
358Split hand-foot malformationEnrichmentFGFR21.45
359Rosette-forming glioneuronal tumorEnrichmentFGFR11.45
360Cardiovascular system diseaseEnrichmentFLNC1.45
361Split-foot malformation with mesoaxial polydactylyEnrichmentMAP3K201.45
362Camurati-engelmann diseaseEnrichmentTGFB11.45
363Congenital fibrosarcomaEnrichmentTP531.45
364Li-fraumeni syndrome 1EnrichmentTP531.45
365SarcomaEnrichmentTP531.45
366Fibrolamellar carcinomaEnrichmentPRKACA1.45
367Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG1.45
368Congenital heart defects, multiple types, 2EnrichmentTAB21.45
369Bardet-biedl syndrome 9EnrichmentNF11.45
370Immune system diseaseEnrichmentCDC421.45
371Hodgkin's lymphomaEnrichmentTP531.45
372Bardet-biedl syndrome 16EnrichmentAKT31.45
373Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.45
374Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.45
375Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.45
376Interfrontal craniofaciosynostosisEnrichmentFGFR11.45
377Intermittent hydrarthrosisEnrichmentTNFRSF1A1.45
378Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.45
379Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB21.45
380Common variable immunodeficiency 12EnrichmentNFKB11.45
381Tafro syndromeEnrichmentMAP2K21.45
382Progressive bulbar palsyEnrichmentCACNA1A1.45
383Oculootodental syndromeEnrichmentFGF31.45
384Wooly hair nevusEnrichmentHRAS1.45
385Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.44
386Semilobar holoprosencephalyEnrichmentFGF8, FGFR11.39
387Hereditary breast carcinomaEnrichmentAKT1, KRAS, TP531.35
388Behcet syndromeEnrichmentFAS, TNFRSF1A1.35
389Diffuse large b-cell lymphomaEnrichmentBRAF, TP531.35
390Ehlers-danlos syndromeEnrichmentTGFB2, TGFBR21.35
391CraniosynostosisEnrichmentFGFR2, FGFR31.31
392Prune belly syndromeEnrichmentFLNA1.28
393AchondroplasiaEnrichmentFGFR31.28
394Van der woude syndrome 1EnrichmentCACNA1E1.28
395Pelvic organ prolapseEnrichmentTAB21.28
396Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.28
397Klippel-feil syndrome 1, autosomal dominantEnrichmentLRRK21.28
398Thyroid carcinoma, familial medullaryEnrichmentNTRK11.28
399Ataxia-telangiectasiaEnrichmentBRAF1.28
400Arterial tortuosity syndromeEnrichmentFLNA1.28
401Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.28
402Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.28
403Watson syndromeEnrichmentNF11.28
404Periventricular nodular heterotopia 1EnrichmentFLNA1.28
405Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.28
406Myopathy, myofibrillar, 5EnrichmentFLNC1.28
407Nuchal bleb, familialEnrichmentSOS11.28
408Osteogenic sarcomaEnrichmentTP531.28
409Spondylocarpotarsal synostosis syndromeEnrichmentFLNB1.28
410Psoriatic arthritisEnrichmentTNF1.28
411Nasopharyngeal carcinomaEnrichmentTP531.28
412Neurofibromatosis, familial spinalEnrichmentNF11.28
413Congenital short bowel syndromeEnrichmentFLNA1.28
414Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.28
415Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF11.28
416Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.28
417Myopathy, distal, 4EnrichmentFLNC1.28
418Anus, imperforateEnrichmentMAP4K41.28
419Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A1.28
420Tethered spinal cord syndromeEnrichmentBRAF1.28
421Bacteremia 2EnrichmentMAPKAPK31.28
422Wieacker-wolff syndromeEnrichmentRASA11.28
423High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.28
424HamartomaEnrichmentFGFR31.28
425Atypical teratoid rhabdoid tumorEnrichmentTP531.28
426Testicular germ cell cancerEnrichmentFGFR31.28
427Anaplastic astrocytomaEnrichmentTP531.28
428Myxoid liposarcomaEnrichmentDDIT31.28
429Squamous cell carcinomaEnrichmentTP531.28
430AdenocarcinomaEnrichmentTP531.28
431Migraine without auraEnrichmentTNF1.28
432Brain cancerEnrichmentNF11.28
433Bone osteosarcomaEnrichmentTP531.28
434Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.28
435Thyrotoxic periodic paralysisEnrichmentCACNA1S1.28
436Testicular cancerEnrichmentFGFR31.28
437Vogt-koyanagi-harada diseaseEnrichmentFAS1.28
438Hereditary episodic ataxiaEnrichmentCACNA1A1.28
439Centronuclear myopathyEnrichmentCACNA1S, MAP3K201.27
440HepatoblastomaEnrichmentFGFR3, TP531.27
441Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX, NF11.27
442Dilated cardiomyopathyEnrichmentBRAF, FLNC, RAF1, TAB21.25
443Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D41.20
444Parkinson disease, late-onsetEnrichmentLRRK2, MAPT1.16
445Cardiomyopathy, familial hypertrophic, 1EnrichmentFLNC, RAF11.16
446Spastic ataxiaEnrichmentCACNA1G, CACNB4, FLNC1.16
447Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.15
448Small cell cancer of the lungEnrichmentTP531.15
449Spinocerebellar ataxia 6EnrichmentCACNA1A1.15
450Aland island eye diseaseEnrichmentCACNA1F1.15
451Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.15
452Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT31.15
453Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.15
454Immunodeficiency, common variable, 1EnrichmentNFKB21.15
455Cardiomyopathy, familial hypertrophic, 26EnrichmentFLNC1.15
456Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.15
457Congenital generalized lipodystrophyEnrichmentFOS1.15
458Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.15
459Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.15
460Multiple synostoses syndromeEnrichmentFGF91.15
461Hereditary ataxiaEnrichmentPRKCG1.15
462Aortic aneurysmEnrichmentTGFBR11.15
463CraniopharyngiomaEnrichmentBRAF1.15
464TuberculosisEnrichmentMAPKAPK31.15
465Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.15
466Newborn respiratory distress syndromeEnrichmentBRAF1.15
467Epidermolytic nevusEnrichmentHRAS1.15
468Malignant hyperthermiaEnrichmentCACNA1S1.15
469Episodic ataxiaEnrichmentCACNA1A1.15
4702p21 microdeletion syndromeEnrichmentPPM1B1.15
471Knobloch syndromeEnrichmentPAK21.15
472Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.15
473Cerebral malariaEnrichmentTNF1.15
474Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.15
475GliomaEnrichmentFGFR21.15
476Middle aortic syndromeEnrichmentNF11.15
477Gingival fibromatosisEnrichmentSOS11.15
478Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.15
479Pancreatic cancerEnrichmentKRAS, TP531.13
480Hereditary breast ovarian cancer syndromeEnrichmentKRAS, NF1, TP531.12
481Brugada syndromeEnrichmentCACNA2D1, CACNB21.10
482Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.06
483Capillary malformations, congenitalEnrichmentRASA11.06
484Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB11.06
485Episodic ataxia, type 2EnrichmentCACNA1A1.06
486Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.06
487Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.06
488Knobloch syndrome 1EnrichmentPAK21.06
489Heart conduction diseaseEnrichmentFLNC1.06
490AmblyopiaEnrichmentCACNA1F1.06
491LymphomaEnrichmentTP531.06
492Cardiac arrestEnrichmentCACNA2D11.06
493Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.06
494Histiocytoid hemangiomaEnrichmentFOS1.06
495Vascular dementiaEnrichmentTNF1.06
496Acute megakaryocytic leukemiaEnrichmentTP531.06
497HemimegalencephalyEnrichmentAKT31.06
498DementiaEnrichmentMAPT1.06
499Congenital short qt syndromeEnrichmentCACNA2D11.06
500Inherited cancer-predisposing syndromeEnrichmentEGFR, MAP4K2, MAX, NF1, TP531.05
501Atrial septal defect 1EnrichmentTGFB20.99
502Klippel-trenaunay-weber syndromeEnrichmentRASA10.99
503Li-fraumeni syndromeEnrichmentTP530.99
504Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S0.99
505Machado-joseph diseaseEnrichmentLRRK20.99
506Cowden syndrome 1EnrichmentEGFR0.99
507Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA10.99
508Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.99
509Testicular germ cell tumorEnrichmentFGFR30.99
510Wilms tumor 5EnrichmentBRAF0.99
511Hemangioma, capillary infantileEnrichmentRASA10.99
512Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB10.99
513Basal cell carcinoma 1EnrichmentRASA10.99
514Patent ductus arteriosusEnrichmentFLNA0.99
515Adrenocortical carcinomaEnrichmentTP530.99
516Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB10.99
517Classic ehlers-danlos syndromeEnrichmentTGFBR10.99
51846,xy disorder of sex developmentEnrichmentFGFR30.99
519Inherited arrhythmogenic cardiomyopathyEnrichmentFLNC0.99
520Childhood absence epilepsyEnrichmentCACNA1H0.99
521Non-immune hydrops fetalisEnrichmentHRAS, KRAS0.97
522Familial hypertrophic cardiomyopathyEnrichmentFLNC, RAF10.93
523Severe combined immunodeficiencyEnrichmentIKBKB, STK40.93
524Multiple endocrine neoplasia, type iEnrichmentMAP4K20.92
525Brugada syndrome 1EnrichmentCACNA2D10.92
526Semantic dementiaEnrichmentMAPT0.92
527Essential thrombocythemiaEnrichmentTP530.92
528Hereditary hemorrhagic telangiectasiaEnrichmentRASA10.92
529MegacolonEnrichmentAKT30.92
530Myofibrillar myopathyEnrichmentFLNC0.92
531Hypophosphatemic ricketsEnrichmentFGF230.92
532Familial isolated restrictive cardiomyopathyEnrichmentFLNC0.92
533B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP530.92
534Eye diseaseEnrichmentCACNA1F, CACNA2D40.88
535Glioma susceptibility 1EnrichmentTP530.87
536Gastroesophageal refluxEnrichmentRPS6KA30.87
537Renal hypodysplasia/aplasia 1EnrichmentMAP4K40.87
538Orthostatic intoleranceEnrichmentRPS6KA30.87
539Ewing sarcomaEnrichmentNF10.87
540Alternating hemiplegia of childhoodEnrichmentCACNA1A0.87
541Difference of sex developmentEnrichmentCACNA1A0.87
542Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D20.86
543Orofacial cleft 1EnrichmentFGF100.82
544Neurofibromatosis, type iEnrichmentNF10.82
545Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.82
546Charge syndromeEnrichmentTNFRSF1A0.82
547Coronary heart disease 5EnrichmentIKBKG0.82
548Leukemia, acute lymphoblastic 3EnrichmentNF10.82
549Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.82
550Hypogonadotropic hypogonadismEnrichmentFGFR10.82
551Congenital central hypoventilation syndromeEnrichmentBDNF0.82
552Progressive non-fluent aphasiaEnrichmentMAPT0.82
553Cowden syndromeEnrichmentAKT10.82
554Autosomal dominant cerebellar ataxiaEnrichmentLRRK20.82
555Behavioral variant of frontotemporal dementiaEnrichmentMAPT0.82
556Renal agenesis, bilateralEnrichmentFGF200.82
557Cerebral palsyEnrichmentCACNA1A, PDGFRB0.81
558Leukemia, chronic lymphocyticEnrichmentTP530.78
559Meier-gorlin syndrome 1EnrichmentFGFR20.78
560Ciliary dyskinesia, primary, 3EnrichmentNFKB10.78
561PolymicrogyriaEnrichmentAKT30.78
562Nemaline myopathyEnrichmentFLNC0.78
563MelanomaEnrichmentBRAF0.78
564Familial colorectal cancerEnrichmentTP530.78
565Primary bone dysplasiaEnrichmentFGFR30.78
566Type 2 diabetes mellitusEnrichmentAKT2, MAPK8IP10.76
567Pectus excavatumEnrichmentTGFBR10.74
568Epilepsy, myoclonic juvenileEnrichmentCACNB40.74
569AsthmaEnrichmentTNF0.74
570Frontotemporal dementia 1EnrichmentMAPT0.74
571Epilepsy, idiopathic generalizedEnrichmentCACNA1H0.74
572Meningioma, familialEnrichmentPDGFB0.74
573Myelodysplastic syndromeEnrichmentTP530.74
57446,xy complete gonadal dysgenesisEnrichmentMAP3K10.74
575OsteochondrodysplasiaEnrichmentFGFR30.74
576Cardiac conduction defectEnrichmentFLNC0.71
577Septooptic dysplasiaEnrichmentFGFR10.71
578Renal hypodysplasia/aplasia 3EnrichmentFGFR30.71
579Early-onset parkinson's diseaseEnrichmentLRRK20.71
580Restrictive cardiomyopathyEnrichmentFLNC0.71
581Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.71
582Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.71
583Protein-deficiency anemiaEnrichmentNRAS0.68
584Multiple sclerosisEnrichmentTNFRSF1A0.65
585Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.65
586Periventricular nodular heterotopiaEnrichmentFLNA0.65
587Generalized epilepsy with febrile seizures plusEnrichmentFGF130.65
588Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.65
589Wilms tumor 1EnrichmentBRAF0.62
590Congenital myopathy 4a, autosomal dominantEnrichmentMAP3K200.62
591MyopiaEnrichmentCACNA1F0.62
592Septopreoptic holoprosencephalyEnrichmentFGF80.62
593Midline interhemispheric variant of holoprosencephalyEnrichmentFGF80.62
594HypertelorismEnrichmentFGFR2, RPS6KA30.62
595Arrhythmogenic right ventricular cardiomyopathyEnrichmentFLNC0.60
596Alzheimer disease, familial, 1EnrichmentMAPT0.58
597Melanoma, cutaneous malignant 1EnrichmentBRAF0.58
598Cleft palate, isolatedEnrichmentFLNA0.58
599Alobar holoprosencephalyEnrichmentFGF80.58
600Heart, malformation ofEnrichmentMAPK10.55
601Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMAPT, MEF2C0.55
602Congenital myopathyEnrichmentCACNA1S0.53
603Parkinson's diseaseEnrichmentLRRK20.53
604Autism spectrum disorderEnrichmentMAP2K1, MEF2C, NF10.51
605Cardiomyopathy, dilated, 1aEnrichmentFLNC0.50
606Endometrial cancerEnrichmentFGFR20.50
607Hepatocellular carcinomaEnrichmentTP530.48
608Tooth agenesisEnrichmentFGFR10.48
609Skin diseaseEnrichmentNF10.48
610Diamond-blackfan anemia 1EnrichmentTP530.47
611Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.47
612Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D40.46
613Cone dystrophyEnrichmentCACNA2D40.45
614Autoinflammatory diseaseEnrichmentTNFRSF1A0.45
615Tetralogy of fallotEnrichmentFLNC0.42
616Hydrops fetalis, nonimmuneEnrichmentHRAS0.42
617Auditory neuropathyEnrichmentCACNA1A0.42
618StrabismusEnrichmentCACNA1A0.41
619Prostate cancerEnrichmentTP530.39
620Long qt syndromeEnrichmentCACNA1S0.37
621Cystic fibrosisEnrichmentTGFB10.36
622Peripheral nervous system diseaseEnrichmentNGF0.36
623NeuropathyEnrichmentNGF0.36
624Left ventricular noncompactionEnrichmentRAF10.33
625Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.32
626Diamond-blackfan anemiaEnrichmentTP530.32
627Systemic lupus erythematosusEnrichmentTNF0.29
628Charcot-marie-tooth diseaseEnrichmentHSPB10.28
629Optic atrophy plus syndromeEnrichmentCACNA1F0.26
630West syndromeEnrichmentNTRK20.26
631Congenital nervous system abnormalityEnrichmentCACNA1A, FGFR30.24
632Nervous system diseaseEnrichmentCACNA1A, FGFR30.24
633Body mass index quantitative trait locus 11EnrichmentBDNF0.22
634Familial isolated dilated cardiomyopathyEnrichmentRAF10.21
635Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.19
636Complex neurodevelopmental disorderEnrichmentMAPK8IP3, RAC30.18
637Primary ovarian insufficiencyEnrichmentNTRK10.18
638MicrocephalyEnrichmentMAPK10.05
639Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D40.05
640Hereditary retinal dystrophyEnrichmentCACNA1F, CACNA2D40.01
641Fundus dystrophyEnrichmentCACNA1F, CACNA2D40.01

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