Olfactory Signaling Pathway

Pathway network for the Olfactory Signaling Pathway SuperPath

Sources:
  • Reactome

Pathways in the Olfactory Signaling Pathway SuperPath

#NameSourceGenes
1Olfactory Signaling PathwayReactome
(see all 398) (see less)
2Sensory PerceptionReactome
(see all 618) (see less)
3Expression and translocation of olfactory receptorsReactome
(see all 390) (see less)

Gene overlap in member pathways for Olfactory Signaling Pathway SuperPath

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

Disorders associated with Olfactory Signaling Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Deafness, autosomal recessiveEnrichmentCABP2, CDH23, CIB2, CLIC5, EPS8, ESPN, GRXCR1, GRXCR2, LHFPL5, MYH9, MYO15A, MYO7A, OTOF, OTOG, OTOGL, PCDH15, PJVK, TMC1, TMIE, TPRN, TRIOBP, USH1C, USH1G, WHRN16.00
2Autosomal recessive nonsyndromic deafnessEnrichmentCABP2, CDH23, CIB2, CLIC5, EPS8, ESPN, GRXCR1, GRXCR2, LHFPL5, MYH9, MYO15A, MYO7A, OTOF, OTOG, OTOGL, PCDH15, PJVK, TMC1, TMIE, TPRN, TRIOBP, USH1C, USH1G, WHRN12.48
3Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentATP2B2, CABP2, CDH23, CIB2, CLIC5, EPS8, EPS8L2, ESPN, GRXCR1, GRXCR2, LHFPL5, MYH9, MYO15A, MYO3A, MYO7A, OTOF, OTOG, OTOGL, PCDH15, PJVK, RDX, RIPOR2, SLC26A5, STRC, TMC1, TMIE, TPRN, TRIOBP, USH1C, USH1G, WHRN11.49
4Rare genetic deafnessEnrichmentACTG1, CDH23, CIB2, ESPN, GRXCR1, KCNQ4, MYH9, MYO15A, MYO7A, OTOF, OTOG, OTOGL, PCDH15, PJVK, RDX, STRC, TMC1, TPRN, TRIOBP, USH1C, WHRN10.75
5Nonsyndromic hearing lossEnrichmentACTG1, CDH23, KCNQ4, MYO15A, MYO3A, MYO7A, OTOF, OTOG, OTOGL, PCDH15, RDX, STRC, TMC1, TRIOBP8.64
6Non-syndromic genetic deafnessEnrichmentACTG1, CDH23, KCNQ4, MYO15A, MYO3A, MYO7A, OTOF, OTOG, OTOGL, RDX, STRC, TMC1, TRIOBP8.55
7Congenital stationary night blindnessEnrichmentABCA4, GNAT1, GNB3, GRK1, PDE6B, RBP3, RDH5, RHO, SAG, SLC24A17.62
8Hereditary retinal dystrophyEnrichmentABCA4, CDH23, CIB2, CNGA1, CNGB1, CYP4V2, ESPN, FSCN2, GNAT1, GRK1, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, GUCY2D, LRAT, LRP2, MYO7A, PCDH15, PDE6A, PDE6B, PDE6G, RBP3, RBP4, RDH11, RDH12, RDH5, RGS9, RHO, RLBP1, RPE65, SAG, SLC24A1, USH1C5.93
9Fundus dystrophyEnrichmentABCA4, CDH23, CIB2, CNGA1, CNGB1, CYP4V2, ESPN, FSCN2, GNAT1, GRK1, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, GUCY2D, LRAT, LRP2, MYO7A, PCDH15, PDE6A, PDE6B, PDE6G, RBP3, RBP4, RDH11, RDH12, RDH5, RGS9, RHO, RLBP1, RPE65, SAG, SLC24A1, USH1C5.93
10Usher syndrome, type iEnrichmentCDH23, CIB2, ESPN, MYO7A, PCDH15, USH1C, USH1G5.74
11Retinitis pigmentosaEnrichmentABCA4, CDH23, CNGA1, CNGB1, CYP4V2, FSCN2, GNAT1, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, GUCY2D, LRAT, MYO7A, PCDH15, PDE6A, PDE6B, PDE6G, RBP3, RDH12, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, USH1C5.39
12Ear malformationEnrichmentCDH23, LHFPL5, MYO15A, MYO7A, OTOF, PCDH15, PJVK, TMC15.17
13Cone-rod dystrophy 2EnrichmentABCA4, CNGA1, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, GUCY2D, OPN1LW, OPN1MW, PDE6B, RBP3, RDH12, RHO4.30
14Usher syndromeEnrichmentCDH23, GUCA1A, GUCA1ANB-GUCA1A, MYO7A, PCDH15, USH1C, USH1G, WHRN4.05
15Liddle syndrome 1EnrichmentSCNN1A, SCNN1B, SCNN1G4.03
16Cone dystrophy 3EnrichmentGUCA1A, GUCA1ANB-GUCA1A, GUCA1B4.03
17Pseudohypoaldosteronism, type ib1, autosomal recessiveEnrichmentSCNN1A, SCNN1B, SCNN1G4.03
18Cone-rod dystrophy 6EnrichmentABCA4, GUCA1A, GUCY2D, PCDH15, PDE6B3.56
19Idiopathic bronchiectasisEnrichmentSCNN1A, SCNN1B, SCNN1G3.44
20Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, ATP2B2, KCNQ4, MYH9, MYO1C, MYO7A, PLS1, SLC17A8, TMC13.30
21Hyperlipidemia, familial combined, 3EnrichmentAPOB, LDLR, LPL3.06
22Usher syndrome type 2EnrichmentCDH23, MYO7A, USH1C, WHRN2.96
23Hyperlipoproteinemia, type iEnrichmentGPIHBP1, LPL2.68
24Blue cone monochromacyEnrichmentOPN1LW, OPN1MW2.68
25Oguchi disease 2EnrichmentGRK1, SAG2.68
26Hyperlipoproteinemia, type iiiEnrichmentAPOE, LDLR2.68
27Familial lipoprotein lipase deficiencyEnrichmentGPIHBP1, LPL2.68
28Cone-rod dystrophy 14EnrichmentGUCA1A, GUCA1ANB-GUCA1A2.68
29Leber congenital amaurosis 14EnrichmentABCA4, LRAT2.68
30Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG12.68
31BradyopsiaEnrichmentRGS9, RGS9BP2.68
32X-linked cone dysfunction syndrome with myopiaEnrichmentOPN1LW, OPN1MW2.68
33Oguchi diseaseEnrichmentGRK1, SAG2.68
34Fundus albipunctatusEnrichmentRDH5, RHO, RLBP12.54
35Focal epilepsyEnrichmentSCN2A, SNAP25, SPTAN12.54
36Familial hypercholesterolemiaEnrichmentAPOA2, APOB, APOE, LDLR2.41
37Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM32.35
38Eye diseaseEnrichmentABCA4, LRAT, RBP4, RDH12, RLBP1, RPE652.34
39Brugada syndromeEnrichmentCACNB2, SCN1B, SCN2B, SCNN1A, TRPM42.24
40Night blindness, congenital stationary, autosomal dominant 2EnrichmentPDE6B, SLC24A12.22
41Hypercholesterolemia, familial, 2EnrichmentAPOB, LDLR2.22
42Bietti crystalline corneoretinal dystrophyEnrichmentABCA4, CYP4V22.22
43Simpson-golabi-behmel syndrome, type 1EnrichmentGPC3, GPC42.22
44Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentCASK, LDLR2.22
45Deafness, autosomal recessive 3EnrichmentMYO15A, OTOF2.22
46Syndromic x-linked intellectual disability najm typeEnrichmentCASK, LDLR2.22
47Dravet syndromeEnrichmentSCN1B, SCN2A, SCN9A2.05
48Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR3, SCN4B1.97
49ProlactinomaEnrichmentCDH23, LRP21.93
50Hereditary progressive cardiac conduction defectEnrichmentSCN1B, TRPM41.93
51Coronary artery anomalyEnrichmentAPOC3, LPL1.93
52Choroidal dystrophy, central areolar, 1EnrichmentGUCA1A, GUCY2D1.72
53Deafness, autosomal recessive 9EnrichmentMYO15A, OTOF1.72
54Macular degenerationEnrichmentABCA4, FSCN21.72
55Otof-related hearing lossEnrichmentMYO15A, OTOF1.72
56Hypercholesterolemia, familial, 1EnrichmentAPOA2, APOB, LDLR1.72
57Sensorineural hearing lossEnrichmentCDH23, MYO15A, MYO3A, MYO7A, TMC1, TMIE1.68
58Familial atrial fibrillationEnrichmentKCNJ2, SCN1B, SCN2B, SCN4B1.66
59Developmental and epileptic encephalopathyEnrichmentCACNA2D2, SCN2A, SCN3A, SNAP25, SPTAN11.65
60Generalized epilepsy with febrile seizures plusEnrichmentSCN1B, SCN2A, SCN9A1.63
61Isolated macular dystrophyEnrichmentABCA4, GUCA1A, GUCA1ANB-GUCA1A1.63
62Usher syndrome, type idEnrichmentCDH23, PCDH151.56
63Deafness, autosomal recessive 12EnrichmentATP2B2, CDH231.56
64Lipid metabolism disorderEnrichmentAPOE, LDLR1.56
65Syndromic rod-cone dystrophyEnrichmentABCA4, CDH231.56
66Spastic paraplegia 31, autosomal dominantEnrichmentREEP11.54
67C3hex, ability to smellEnrichmentOR2J31.54
68Neuronopathy, distal hereditary motor, autosomal recessive 6EnrichmentREEP11.54
69Neuronopathy, distal hereditary motor, autosomal dominant 12EnrichmentREEP11.54
70Dystonia 25EnrichmentGNAL1.53
71Retinitis pigmentosa 45EnrichmentCNGB11.53
72Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.53
73Meniere diseaseEnrichmentCDH23, MYO7A1.43
74Carpal tunnel syndrome 1EnrichmentTTR1.34
75Hypercarotenemia and vitamin a deficiency, autosomal dominantEnrichmentBCO11.34
76Thiourea tastingEnrichmentTAS2R381.34
77Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR1.34
78Ceroid lipofuscinosis, neuronal, 4EnrichmentDNAJC51.34
79Atrophoderma vermiculataEnrichmentLRP11.34
80Baraitser-winter syndrome 1EnrichmentACTB1.34
81Sea-blue histiocyte diseaseEnrichmentAPOE1.34
82Usher syndrome, type icEnrichmentUSH1C1.34
83Deafness, autosomal recessive 18aEnrichmentUSH1C1.34
84Retinitis pigmentosa 30EnrichmentFSCN21.34
85Colorblindness, partial, deutan seriesEnrichmentOPN1MW1.34
86Immunodeficiency 50EnrichmentMSN1.34
87Deafness, autosomal recessive 2EnrichmentMYO7A1.34
88Deafness, autosomal recessive 67EnrichmentLHFPL51.34
89Night blindness, congenital stationary, autosomal dominant 1EnrichmentRHO1.34
90Deafness, autosomal recessive 25EnrichmentGRXCR11.34
91Deafness, autosomal recessive 24EnrichmentRDX1.34
92Deafness, autosomal dominant 17EnrichmentMYH91.34
93Brugada syndrome 4EnrichmentCACNB21.34
94Deafness, autosomal recessive 36, with or without vestibular involvementEnrichmentESPN1.34
95Short qt syndrome 3EnrichmentKCNJ21.34
96Deafness, autosomal recessive 31EnrichmentWHRN1.34
97Deafness, autosomal recessive 59EnrichmentPJVK1.34
98Brugada syndrome 5EnrichmentSCN1B1.34
99Bothnia retinal dystrophyEnrichmentRLBP11.34
100Bronchiectasis with or without elevated sweat chloride 2EnrichmentSCNN1A1.34
101Bronchiectasis with or without elevated sweat chloride 3EnrichmentSCNN1G1.34
102Lipoprotein glomerulopathyEnrichmentAPOE1.34
103Long qt syndrome 10EnrichmentSCN4B1.34
104Amyloidosis, hereditary systemic 1EnrichmentTTR1.34
105Hyperlipoproteinemia, type idEnrichmentGPIHBP11.34
106Developmental and epileptic encephalopathy 5EnrichmentSPTAN11.34
107Chromosome 20q11-q12 deletion syndromeEnrichmentEPB41L11.34
108Keratosis pilaris atrophicansEnrichmentLRP11.34
109Donnai-barrow syndromeEnrichmentLRP21.34
110Mandibulofacial dysostosis with impaired intellectual developmentEnrichmentABCA41.34
111Developmental and epileptic encephalopathy 11EnrichmentSCN2A1.34
112Newfoundland rod-cone dystrophyEnrichmentRLBP11.34
113Deafness, autosomal recessive 84bEnrichmentOTOGL1.34
114Retinitis pigmentosa 66EnrichmentRBP31.34
115Retinitis pigmentosa 57EnrichmentPDE6G1.34
116Microphthalmia/coloboma 10EnrichmentRBP41.34
117Deafness, autosomal recessive 101EnrichmentGRXCR21.34
118Leber congenital amaurosis 2EnrichmentRPE651.34
119Deafness, autosomal recessive 93EnrichmentCABP21.34
120TritanopiaEnrichmentOPN1SW1.34
121Spinocerebellar ataxia, autosomal recessive 13EnrichmentGRM11.34
122Atrial fibrillation, familial, 14EnrichmentSCN2B1.34
123Deafness, autosomal recessive 6EnrichmentTMIE1.34
124Deafness, autosomal recessive 103EnrichmentCLIC51.34
125Intellectual developmental disorder, autosomal dominant 66EnrichmentATP2B11.34
126Intellectual developmental disorder, x-linked 50EnrichmentSYN11.34
127Pseudohypoaldosteronism, type ib2, autosomal recessiveEnrichmentSCNN1B1.34
128Developmental and epileptic encephalopathy 117EnrichmentSNAP251.34
129Deafness, autosomal dominant 82EnrichmentATP2B21.34
130Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.34
131Liddle syndrome 2EnrichmentSCNN1G1.34
132Retinitis pigmentosa 87 with choroidal involvementEnrichmentRPE651.34
133Keipert syndromeEnrichmentGPC41.34
134Tubulointerstitial kidney disease, autosomal dominant 6EnrichmentAPOA41.34
135Retinitis pigmentosa 47EnrichmentSAG1.34
136Deafness, autosomal recessive 61EnrichmentSLC26A51.34
137Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.34
138Progressive familial heart block, type ibEnrichmentTRPM41.34
139Colorblindness, partial, protan seriesEnrichmentOPN1LW1.34
140Developmental and epileptic encephalopathy 62EnrichmentSCN3A1.34
141Liddle syndrome 3EnrichmentSCNN1A1.34
142Oguchi disease 1EnrichmentSAG1.34
143Epilepsy, x-linked 1, with variable learning disabilities and behavior disordersEnrichmentSYN11.34
144Erythrokeratodermia variabilis et progressiva 6EnrichmentTRPM41.34
145Night blindness, congenital stationary, type1iEnrichmentGUCY2D1.34
146Deafness, autosomal dominant 76EnrichmentPLS11.34
147Atrial fibrillation, familial, 13EnrichmentSCN1B1.34
148Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN11.34
149Prolonged electroretinal response suppression 1EnrichmentRGS91.34
150Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D1.34
151Deafness, autosomal dominant 11EnrichmentMYO7A1.34
152Arthrogryposis and ectodermal dysplasiaEnrichmentOTOF1.34
153Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.34
154Deafness, autosomal dominant 21EnrichmentRIPOR21.34
155Deafness, autosomal dominant 25EnrichmentSLC17A81.34
156Deafness, autosomal recessive 30EnrichmentMYO3A1.34
157X-linked epilepsy with variable learning disabilities and behavior disordersEnrichmentSYN11.34
158Becker nevus syndromeEnrichmentACTB1.34
159Pontocerebellar hypoplasia, type 3EnrichmentPCLO1.34
160Dystonia-deafness syndrome 1EnrichmentACTB1.34
161Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.34
162Episodic ataxia, type 9EnrichmentSCN2A1.34
163Apolipoprotein c-iii deficiencyEnrichmentAPOC31.34
164Pancreatic lipase deficiencyEnrichmentPNLIP1.34
165Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D1.34
166Usher syndrome, type ijEnrichmentCIB21.34
167Deafness, autosomal recessive 18bEnrichmentOTOG1.34
168Night blindness, congenital stationary, type 1gEnrichmentGNAT11.34
169Night blindness, congenital stationary, type 1dEnrichmentSLC24A11.34
170Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP21.34
171Long qt syndrome 16EnrichmentCALM31.34
172Deafness, autosomal recessive 102EnrichmentEPS81.34
173Benign familial infantile epilepsyEnrichmentSCN2A1.34
174Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP251.34
175Retinitis pigmentosa 4EnrichmentRHO1.34
176Usher syndrome, type iidEnrichmentWHRN1.34
177Atrial fibrillation, familial, 9EnrichmentKCNJ21.34
178Retinitis pigmentosa 20EnrichmentRPE651.34
179Retinitis pigmentosa 43EnrichmentPDE6A1.34
180Retinitis pigmentosa 48EnrichmentGUCA1B1.34
181Epilepsy, familial focal, with variable foci 4EnrichmentSCN3A1.34
182Epilepsy, idiopathic generalized 16EnrichmentKCNMA11.34
183Ichthyosis, congenital, autosomal recessive 13EnrichmentSDR9C71.34
184Deafness, autosomal recessive 106EnrichmentEPS8L21.34
185Cerebellar atrophy, developmental delay, and seizuresEnrichmentKCNMA11.34
186Spinocerebellar ataxia 44EnrichmentGRM11.34
187Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.34
188Deafness, autosomal dominant 90EnrichmentMYO3A1.34
189Retinitis pigmentosa 96EnrichmentSAG1.34
190Usher syndrome, type 1mEnrichmentESPN1.34
191Autosomal recessive nonsyndromic deafness 36EnrichmentESPN1.34
192Beta-glucopyranoside tastingEnrichmentTAS2R161.34
193Red-green color blindnessEnrichmentOPN1MW1.34
194Tsh producing pituitary tumorEnrichmentCDH231.34
195Prolactin-producing pituitary gland adenomaEnrichmentLRP21.34
196Pseudohypoaldosteronism, type ib3, autosomal recessiveEnrichmentSCNN1G1.34
197Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN11.34
198Developmental delay with or without epilepsyEnrichmentSPTAN11.34
199Long qt syndrome 15EnrichmentCALM21.34
200Baraitser-winter syndromeEnrichmentACTB1.34
201AmyloidosisEnrichmentTTR1.34
202Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN11.34
203Usher syndrome type 1bEnrichmentMYO7A1.34
204Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.34
205Pancreatic triacylglycerol lipase deficiencyEnrichmentPNLIP1.34
206Cask-related intellectual disabilityEnrichmentCASK1.34
207Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.34
208Hereditary hypercarotenemia and vitamin a deficiencyEnrichmentBCO11.34
209Congenital smooth muscle hamartomaEnrichmentACTB1.34
210Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.34
211Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D1.34
212Stargardt disease 5EnrichmentRDH81.34
213Hereditary amyloidosisEnrichmentTTR1.34
214Retinal diseaseEnrichmentABCA41.34
215Attrv30m amyloidosisEnrichmentTTR1.34
216Aapoaii amyloidosisEnrichmentAPOA21.34
217Chondromyxoid fibromaEnrichmentGRM11.34
218Attrv122i amyloidosisEnrichmentTTR1.34
219Stargardt disease 1EnrichmentABCA4, LRAT, RDH12, RPE651.34
220Early infantile developmental and epileptic encephalopathyEnrichmentCASK, SCN1B, SCN2A1.34
221Leber congenital amaurosis 1EnrichmentGUCY2D, LRAT1.32
222Homozygous familial hypercholesterolemiaEnrichmentAPOB, LDLR1.32
223Optic atrophy plus syndromeEnrichmentABCA4, CYP4V2, GUCY2D, RDH5, SNAP251.31
224Body mass index quantitative trait locus 19EnrichmentADCY31.24
225Cerebral visual impairmentEnrichmentGNB11.24
226Coronary heart disease 5EnrichmentAPOB, LDLR1.22
227Leber plus diseaseEnrichmentABCA4, GUCY2D, LRAT, PDE6A, PDE6B, RDH12, RGS9, RPE651.17
228Anosmia, isolated congenitalEnrichmentCNGA21.07
229Presynaptic congenital myasthenic syndromesEnrichmentAGRN, SNAP251.06
230Andersen cardiodysrhythmic periodic paralysisEnrichmentKCNJ21.05
231Apolipoprotein c-ii deficiencyEnrichmentAPOC21.05
232Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.05
233Indifference to pain, congenital, autosomal recessiveEnrichmentSCN9A1.05
234Omodysplasia 1EnrichmentGPC61.05
235Polymyoclonus, infantileEnrichmentSCNN1B1.05
236Deafness, autosomal dominant 2aEnrichmentKCNQ41.05
237Cataract 35EnrichmentMYH91.05
238Deafness, autosomal dominant 16EnrichmentSTRC1.05
239Fg syndrome 4EnrichmentCASK1.05
240Alzheimer disease 3EnrichmentAPOE1.05
241Usher syndrome, type ifEnrichmentPCDH151.05
242Hypertension, diastolicEnrichmentKCNMB11.05
243Stargardt disease 3EnrichmentABCA41.05
244Deafness, autosomal dominant 30EnrichmentMYO3A1.05
245Deafness, autosomal dominant 36EnrichmentTMC11.05
246Seizures, benign familial infantile, 3EnrichmentSCN2A1.05
247Deafness, autosomal recessive 48EnrichmentCIB21.05
248Deafness, autosomal recessive 23EnrichmentPCDH151.05
249Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.05
250Deafness, autosomal recessive 28EnrichmentTRIOBP1.05
251Deafness, autosomal dominant 20EnrichmentACTG11.05
252Mononeuropathy of the median nerve, mildEnrichmentTTR1.05
253Baraitser-winter syndrome 2EnrichmentACTG11.05
254Lipase deficiency, combinedEnrichmentLPL1.05
255Retinal dystrophy, juvenile cataracts, and short stature syndromeEnrichmentRDH111.05
256Night blindness, congenital stationary, type 1hEnrichmentGNB31.05
257Deafness, autosomal recessive 84aEnrichmentCDH231.05
258Schwartz-jampel syndrome, type 1EnrichmentHSPG21.05
259Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentRBP41.05
260Long qt syndrome 14EnrichmentCALM11.05
261Deafness, autosomal recessive 104EnrichmentRIPOR21.05
262Acth deficiency, isolatedEnrichmentRPE651.05
263Hypobetalipoproteinemia, familial, 1EnrichmentAPOB1.05
264Amyotrophic lateral sclerosis 28EnrichmentLRP121.05
265Neuropathy, congenital hypomyelinating, 2EnrichmentRHO1.05
266Neurodevelopmental disorder with or without variable movement or behavioral abnormalitiesEnrichmentKCNN21.05
267Developmental dysplasia of the hip 3EnrichmentLRP11.05
268Deafness, autosomal recessive 7EnrichmentTMC11.05
269Prolonged electroretinal response suppression 2EnrichmentRGS9BP1.05
270Retinitis pigmentosa 49EnrichmentCNGA11.05
271Combined saposin deficiencyEnrichmentCDH231.05
272Spermatogenic failure 7EnrichmentSTRC1.05
273Familial apolipoprotein c-ii deficiencyEnrichmentAPOC21.05
274Dystonia 34, myoclonicEnrichmentKCNN21.05
275Syndromic x-linked intellectual disabilityEnrichmentCASK1.05
276Optic disk drusenEnrichmentRHO1.05
277Cone-rod dystrophy 3EnrichmentABCA41.05
278Benign familial neonatal epilepsyEnrichmentSCN2A1.05
279Developmental and epileptic encephalopathy 30EnrichmentSCN2A1.05
280Deafness, autosomal recessive 16EnrichmentSTRC1.05
281Usher syndrome, type igEnrichmentUSH1G1.05
282HypobetalipoproteinemiaEnrichmentAPOB1.05
283Pseudosarcomatous fibromatosisEnrichmentMYH91.05
284Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.05
285Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.05
286Combined psap deficiencyEnrichmentCDH231.05
287Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA11.05
288Amyloidosis, hereditary systemic 3EnrichmentAPOA11.05
289Malignant migrating partial seizures of infancyEnrichmentSCN2A1.05
290Liang-wang syndromeEnrichmentKCNMA11.05
291Progressive retinal dystrophy due to retinol transport defectEnrichmentRBP41.05
292Dfna2 nonsyndromic hearing lossEnrichmentKCNQ41.05
2932p21 microdeletion syndrome without cystinuriaEnrichmentCAMKMT1.05
294Congenital isolated adrenocorticotropic hormone deficiencyEnrichmentRPE651.05
295Small fiber neuropathyEnrichmentSCN9A1.05
296Benign neonatal seizuresEnrichmentSCN2A1.05
297Non-syndromic syndactylyEnrichmentLRP21.05
298Familial isolated pituitary adenomaEnrichmentCDH231.05
299PseudohypoaldosteronismEnrichmentSCNN1A1.05
300Cone dystrophyEnrichmentABCA4, GUCY2D, SAG1.03
301EpilepsyEnrichmentBSN, SCN2A, SCN3A, SYN10.97
302Auditory neuropathyEnrichmentMYO7A, OTOF, SLC17A80.95
303Benign epilepsy with centrotemporal spikesEnrichmentSCN1B, SCN2A, SCN9A, SPTAN10.94
304Macular degeneration, age-related, 2EnrichmentABCA40.88
305Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH90.88
306Dystonia 12EnrichmentSCN2A0.88
307Hyperalphalipoproteinemia 1EnrichmentAPOC30.88
308Retinitis pigmentosa 1EnrichmentABCA40.88
309Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG20.88
310Intellectual developmental disorder, x-linked 96EnrichmentSYP0.88
311Microphthalmia, syndromic 9EnrichmentSTRA60.88
312Retinitis pigmentosa 19EnrichmentABCA40.88
313Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsyEnrichmentKCNMA10.88
314Alzheimer disease 4EnrichmentAPOE0.88
315Generalized epilepsy with febrile seizures plus, type 1EnrichmentSCN1B0.88
316Hypercholesterolemia, familial, 4EnrichmentLDLR0.88
317Leber congenital amaurosis 13EnrichmentRDH120.88
31846,xy sex reversal 8EnrichmentAKR1C40.88
319Retinitis pigmentosa 40EnrichmentPDE6B0.88
320Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN10.88
321Generalized epilepsy with febrile seizures plus, type 7EnrichmentSCN9A0.88
322Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN10.88
323Hypoalphalipoproteinemia, primary, 2EnrichmentAPOA10.88
324Keratosis follicularis spinulosa decalvansEnrichmentLRP10.88
325Cerebellar diseaseEnrichmentCASK0.88
326Microcephaly 17, primary, autosomal recessiveEnrichmentRHO0.88
327Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalitiesEnrichmentATP2B10.88
328Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA10.88
329Polr3-related leukodystrophyEnrichmentGUCY2D0.88
330Age related macular degenerationEnrichmentABCA40.88
331Atypical hypotonia-cystinuria syndromeEnrichmentCAMKMT0.88
332Hereditary episodic ataxiaEnrichmentSCN2A0.88
333Hereditary sodium channelopathy-related small fibers neuropathyEnrichmentSCN9A0.88
334Centralopathic epilepsyEnrichmentSCN1B, SCN2A, SCN9A, SPTAN10.88
335Neuronopathy, distal hereditary motor, autosomal dominant 5EnrichmentREEP10.87
336Retinitis pigmentosa 91EnrichmentABCA40.77
337Erythermalgia, primaryEnrichmentSCN9A0.77
338Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentSCN9A0.77
339Macular degeneration, age-related, 1EnrichmentAPOE0.77
340Aland island eye diseaseEnrichmentWHRN0.77
341Developmental and epileptic encephalopathy 2EnrichmentSNAP250.77
342Hypoalphalipoproteinemia, primary, 1EnrichmentAPOA10.77
343Deafness-infertility syndromeEnrichmentSTRC0.77
344ChoroideremiaEnrichmentCYP4V20.77
345Deafness, autosomal recessive 79EnrichmentTPRN0.77
346Aminoacylase 1 deficiencyEnrichmentACTB0.77
347Developmental and epileptic encephalopathy 12EnrichmentSCN2A0.77
348Pituitary adenoma 5, multiple typesEnrichmentCDH230.77
349Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D20.77
350Macular dystrophy with or without cone dysfunctionEnrichmentRDH120.77
351Hereditary sensory and autonomic neuropathy type 2EnrichmentSCN9A0.77
352Developmental and epileptic encephalopathy 52EnrichmentSCN1B0.77
353Episodic ataxiaEnrichmentSCN2A0.77
354Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN10.77
3552p21 microdeletion syndromeEnrichmentCAMKMT0.77
356VitreoretinopathyEnrichmentABCA40.77
357Pseudomyogenic hemangioendotheliomaEnrichmentACTB0.77
358Alzheimer disease 2EnrichmentAPOE0.68
359Amyloidosis, hereditary systemic 2EnrichmentAPOA10.68
360Retinal detachmentEnrichmentRHO0.68
361Paroxysmal extreme pain disorderEnrichmentSCN9A0.68
3623-methylglutaconic aciduria, type iiiEnrichmentGUCY2D0.68
363Albinism, oculocutaneous, type iiEnrichmentPDE6B0.68
364Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentCASK0.68
365Deafness, autosomal recessive 63EnrichmentMYH90.68
366Night blindness, congenital stationary, type 1cEnrichmentGNAT10.68
367Myasthenic syndrome, congenital, 8EnrichmentAGRN0.68
368Pervasive developmental disorderEnrichmentSPTBN10.68
369Night blindnessEnrichmentRHO0.68
370Self-limited infantile epilepsyEnrichmentSCN2A0.68
371Congenital short qt syndromeEnrichmentKCNJ20.68
372Coloboma of choroid and retinaEnrichmentACTG10.68
373Rare pervasive developmental disorderEnrichmentSPTBN10.68
374HypothyroidismEnrichmentGNB10.67
375DystoniaEnrichmentCASK, GNAL, GNB10.67
376AutismEnrichmentATP2B1, PCDH15, RPE65, SCN2A, STX1A0.64
377Macs syndromeEnrichmentRBP4, STRA60.64
378Developmental dysplasia of the hip 1EnrichmentAKR1C10.61
379Alcohol dependenceEnrichmentTAS2R160.61
380Cowden syndrome 1EnrichmentLDLR0.61
381Pierre robin syndromeEnrichmentATP2B10.61
382Hemangioma, capillary infantileEnrichmentMYH90.61
383Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.61
384Autosomal recessive intellectual developmental disorderEnrichmentLHFPL50.61
385MicrophthalmiaEnrichmentRBP4, STRA60.58
386Oculopharyngodistal myopathy 1EnrichmentLRP120.56
387Mitochondrial dna depletion syndrome 4aEnrichmentRLBP10.56
388Coats diseaseEnrichmentRHO0.56
389Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentSCN3A0.56
390Usher syndrome, type iiaEnrichmentCDH230.56
391Neuropathy, hereditary sensory and autonomic, type vEnrichmentSCN9A0.56
392Retinal degenerationEnrichmentRPE650.56
393Leukemia, acute lymphoblasticEnrichmentGNB10.55
394Myelodysplastic syndromeEnrichmentGNB10.55
395Erythrokeratodermia variabilis et progressiva 1EnrichmentTRPM40.51
396Alternating hemiplegia of childhoodEnrichmentSCN2A0.51
397Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.51
398Bronchiectasis with or without elevated sweat chloride 1EnrichmentSCNN1B0.46
399Developmental and epileptic encephalopathy 14EnrichmentSCN2A0.46
400Bilateral perisylvian polymicrogyriaEnrichmentSCN3A0.46
401Primary hyperaldosteronismEnrichmentCDH230.46
402Cat eye syndromeEnrichmentACTG10.43
403PolymicrogyriaEnrichmentSCN3A0.43
404AchromatopsiaEnrichmentOPN1MW0.43
405Congenital nonbullous ichthyosiform erythrodermaEnrichmentSDR9C70.43
406Cleft palate, isolatedEnrichmentGNB10.40
407Body mass index quantitative trait locus 11EnrichmentADCY3, MYH9, SDC30.40
408Movement diseaseEnrichmentSCN2A0.40
409Long qt syndromeEnrichmentCALM1, CALM20.38
410Cardiac conduction defectEnrichmentSCN1B0.37
411Congenital long qt syndromeEnrichmentITPR30.37
412Postsynaptic congenital myasthenic syndromesEnrichmentAGRN0.37
413Microphthalmia/coloboma 12EnrichmentRBP40.34
414Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentATP2B10.34
415Alzheimer's diseaseEnrichmentAPOE0.34
416ClubfootEnrichmentATP2B10.34
417Chromosome 1p36 deletion syndromeEnrichmentHSPG20.34
418Stereotypic movement disorderEnrichmentSNAP250.34
419Periventricular nodular heterotopiaEnrichmentATP2B10.32
420CataractEnrichmentRHO0.32
421Congenital myasthenic syndromeEnrichmentAGRN0.32
422Non-syndromic x-linked intellectual disabilityEnrichmentCASK, SYP0.31
423Coloboma of maculaEnrichmentRBP40.30
424Wilms tumor 1EnrichmentGPC30.30
425Anterior segment dysgenesisEnrichmentRBP40.30
426Autosomal recessive congenital ichthyosisEnrichmentSDR9C70.30
427Neuronal ceroid lipofuscinosisEnrichmentDNAJC50.30
428Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentCASK0.28
429HypertensionEnrichmentMYH90.28
430Isolated congenital microcephalyEnrichmentCASK0.28
431Alzheimer disease, familial, 1EnrichmentAPOE0.26
432Hypertension, essentialEnrichmentGNB30.26
433Sudden infant death syndromeEnrichmentCALM20.26
434StrabismusEnrichmentGNB10.26
435Neuromuscular diseaseEnrichmentSPTAN10.25
436Hereditary spastic paraplegiaEnrichmentREEP1, SPTAN10.24
437West syndromeEnrichmentSCN2A, SPTAN10.22
438Williams-beuren syndromeEnrichmentSTX1A0.22
439CraniosynostosisEnrichmentGPC40.22
440Cardiomyopathy, dilated, 1aEnrichmentLPL0.20
441LissencephalyEnrichmentACTG10.20
442Attention deficit-hyperactivity disorderEnrichmentGNB50.19
443Myocardial infarctionEnrichmentLRP80.19
444MicrocephalyEnrichmentACTB, ACTG1, CASK, GNB1, SNAP250.18
445Autosomal dominant non-syndromic intellectual disabilityEnrichmentEPB41L1, GNB10.17
446Cerebral palsyEnrichmentGNB10.16
447Jeune thoracic dystrophyEnrichmentSPTAN10.16
448Spastic ataxiaEnrichmentSCN2A, SPTAN10.15
449Asphyxiating thoracic dystrophyEnrichmentSPTAN10.14
450Undetermined early-onset epileptic encephalopathyEnrichmentSCN1B, SCN3A0.14
451Autosomal recessive non-syndromic intellectual disabilityEnrichmentEZR, LHFPL50.13
452Cystic fibrosisEnrichmentSTX1A0.11
453Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.10
454CakutEnrichmentACTG10.10
455Charcot-marie-tooth diseaseEnrichmentTTR0.07
456Autism spectrum disorderEnrichmentGNB1, KCNMA1, SCN2A0.06
457ThrombocytopeniaEnrichmentMYH90.05
458Hereditary breast ovarian cancer syndromeEnrichmentMYO7A0.03
459Complex neurodevelopmental disorderEnrichmentATP2B1, SCN2A, SPTBN10.03
460SchizophreniaEnrichmentPCDH150.03
461Congenital nervous system abnormalityEnrichmentCASK, GNB50.02
462Nervous system diseaseEnrichmentCASK, GNB50.02