GPCR downstream signalling

Pathway network for the GPCR downstream signalling SuperPath

Sources:
  • Reactome

Pathways in the GPCR downstream signalling SuperPath

#NameSourceGenes
1GPCR downstream signallingReactome
(see all 632) (see less)
2Signaling by GPCRReactome
(see all 709) (see less)
3G alpha (i) signalling eventsReactome
(see all 319) (see less)
4G alpha (q) signalling eventsReactome

Gene overlap in member pathways for GPCR downstream signalling SuperPath

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

Disorders associated with GPCR downstream signalling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Normosmic congenital hypogonadotropic hypogonadismEnrichmentGNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, TAC3, TACR39.84
2Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CX3CR1, CXCL12, CXCR18.37
3Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, NRAS, PIK3CA6.38
4Melanoma, uvealEnrichmentCYSLTR2, GNA11, GNAQ, PLCB46.04
5Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentGNRHR, KISS1R, PROKR2, TAC3, TACR35.76
6Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA5.68
7Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3CA, PIK3R15.40
8Anastomosing haemangiomaEnrichmentGNA11, GNA14, GNAQ5.40
9Hypogonadotropic hypogonadismEnrichmentGNRHR, KISS1R, PROKR2, TACR35.13
10Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.80
11Capillary malformations, congenitalEnrichmentGNA11, GNAQ, PIK3CA4.41
12Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, SOS14.13
13Lung squamous cell carcinomaEnrichmentEGFR, KRAS, PIK3CA4.11
14Hypertension, essentialEnrichmentAGT, AGTR1, GNB3, RGS53.90
15Noonan syndrome 3EnrichmentHRAS, KRAS, SOS13.88
16Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.60
17Autosomal dominant hypocalcemiaEnrichmentCASR, GNA113.60
18Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ3.60
19Auriculocondylar syndrome 1EnrichmentEDN1, GNAI3, PLCB43.41
20Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R23.41
21Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, SOS13.36
22Blue cone monochromacyEnrichmentOPN1LW, OPN1MW3.26
23Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.26
24AcrodysostosisEnrichmentPDE4D, PRKAR1A3.26
25X-linked cone dysfunction syndrome with myopiaEnrichmentOPN1LW, OPN1MW3.26
26Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.18
27RasopathyEnrichmentHRAS, KRAS, NRAS, SOS13.15
28Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.13
29Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, PIK3CA3.10
30Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, GABBR1, GNB1, NBEA, PPP3CA2.97
31Bladder cancerEnrichmentEGFR, HRAS, KRAS, PIK3CA2.96
32Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, LPAR4, NRAS2.96
33Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.83
34Genetic central precocious puberty in maleEnrichmentKISS1, KISS1R2.83
35Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA2.74
36Congenital stationary night blindnessEnrichmentGNAT1, GNB3, GRM6, RHO2.73
37PseudohypoparathyroidismEnrichmentGNAS, PTH1R2.66
38Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPDE11A, PRKAR1A2.66
39Isolated micronodular adrenocortical diseaseEnrichmentPDE11A, PDE8B2.66
40Achromatopsia 4EnrichmentGNAI3, GNAT22.49
41Hirschsprung disease 1EnrichmentECE1, EDN3, EDNRB, IHH, PROKR1, SMO2.47
42Klippel-trenaunay-weber syndromeEnrichmentGNAQ, PIK3CA2.44
43Cowden syndrome 1EnrichmentEGFR, PIK3CA2.44
44Waardenburg syndrome, type 4aEnrichmentEDN3, EDNRB2.44
45Renal tubular dysgenesisEnrichmentAGT, AGTR12.44
46InfertilityEnrichmentGNRHR, TAC32.44
47Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS2.30
48Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA2.30
49Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.30
50Gallbladder cancerEnrichmentKRAS, PIK3CA2.30
51Follicular thyroid carcinomaEnrichmentHRAS, NRAS2.30
52Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR32.29
53Night blindness, congenital stationary, type 1cEnrichmentGNAT1, GRM62.28
54Kallmann syndromeEnrichmentPROK2, PROKR2, TACR32.25
55Brachydactyly, type e1EnrichmentPTH1R, PTHLH2.20
56Familial isolated hypoparathyroidismEnrichmentCASR, PTH2.20
57Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS2.18
58Narcolepsy 1EnrichmentHCRT, P2RY112.18
59Osteoporosis, juvenileEnrichmentWNT1, WNT3A2.10
60Body mass index quantitative trait locus 11EnrichmentADCY3, ADRB3, GHRL, GNAS, MC3R, MC4R, POMC2.09
61Arteriovenous malformationEnrichmentHRAS, PIK3CA2.07
62Stroke, ischemicEnrichmentF2, PRKCH1.98
63Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA1.98
64Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R21.91
65Carney complex variantEnrichmentPDE11A, PRKAR1A1.91
66Primary hyperparathyroidismEnrichmentCASR, PTH1.91
67Specific learning disabilityEnrichmentMAPK1, RPS6KA31.90
68Lung cancerEnrichmentEGFR, KRAS, PIK3CA1.85
69Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS1.82
70Polydactyly, preaxial iiEnrichmentPTCH1, SHH1.82
71Robinow syndrome, autosomal dominant 1EnrichmentFZD2, WNT5A1.82
72Autosomal dominant robinow syndromeEnrichmentFZD2, WNT5A1.82
73Precocious puberty, central, 1EnrichmentKISS1R1.80
74Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.80
75MacrodactylyEnrichmentPIK3CA1.80
76Diabetes insipidus, neurohypophysealEnrichmentAVP1.80
77Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.80
78High molecular weight kininogen deficiencyEnrichmentKNG11.80
79Hypogonadotropic hypogonadism 3 with or without anosmiaEnrichmentPROKR21.80
80Nystagmus 6, congenital, x-linkedEnrichmentGPR1431.80
81Coffin-lowry syndromeEnrichmentRPS6KA31.80
82Thyrotropin-releasing hormone deficiencyEnrichmentTRH1.80
83Oculoectodermal syndromeEnrichmentKRAS1.80
84Hypocalcemia, autosomal dominant 1EnrichmentCASR1.80
85Noonan syndrome 4EnrichmentSOS11.80
86Hypocalciuric hypercalcemia, familial, type iEnrichmentCASR1.80
87Megalencephaly, autosomal dominantEnrichmentPIK3CA1.80
88Prothrombin deficiency, congenitalEnrichmentF21.80
89Cowden syndrome 5EnrichmentPIK3CA1.80
90Focal segmental glomerulosclerosis 2EnrichmentTRPC61.80
91Mandibulofacial dysostosis with alopeciaEnrichmentEDNRA1.80
92Melanosis, neurocutaneousEnrichmentNRAS1.80
93Hypogonadotropic hypogonadism 8 with or without anosmiaEnrichmentKISS1R1.80
94Bleeding disorder, platelet-type, 18EnrichmentRASGRP21.80
95Noonan syndrome 6EnrichmentNRAS1.80
96Hirschsprung disease 4EnrichmentEDN31.80
97Waardenburg syndrome, type 4bEnrichmentEDN31.80
98Spinocerebellar ataxia 41EnrichmentTRPC31.80
99Neuroocular syndrome 2, paroxysmal typeEnrichmentDAGLA1.80
100Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.80
101Sturge-weber syndromeEnrichmentGNAQ1.80
102Spinocerebellar ataxia, autosomal recessive 13EnrichmentGRM11.80
103Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP11.80
104Cerebral cavernous malformations 4EnrichmentPIK3CA1.80
105Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.80
106Auriculocondylar syndrome 3EnrichmentEDN11.80
107Noonan syndrome 13EnrichmentMAPK11.80
108Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.80
109Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.80
110Short syndromeEnrichmentPIK3R11.80
111Bleeding disorder, platelet-type, 13EnrichmentTBXA2R1.80
112Auriculocondylar syndrome 2aEnrichmentPLCB41.80
113Isolated growth hormone deficiency type iiiEnrichmentBTK1.80
114Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.80
115Hypogonadotropic hypogonadism 4 with or without anosmiaEnrichmentPROK21.80
116Angioedema, hereditary, 6EnrichmentKNG11.80
117Central diabetes insipidusEnrichmentAVP1.80
118Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.80
119Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.80
120Hemifacial myohyperplasiaEnrichmentPIK3CA1.80
121Question mark ears, isolatedEnrichmentEDN11.80
122Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.80
123Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.80
124Body mass index quantitative trait locus 10EnrichmentFFAR41.80
125Coronary heart disease 6EnrichmentMMP31.80
126Epilepsy, idiopathic generalized 8EnrichmentCASR1.80
127Hypogonadotropic hypogonadism 10 with or without anosmiaEnrichmentTAC31.80
128Hypogonadotropic hypogonadism 13 with or without anosmiaEnrichmentKISS11.80
129Hypothyroidism, congenital, nongoitrous, 7EnrichmentTRHR1.80
130Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.80
131Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.80
132Hypocalcemia, autosomal dominant 2EnrichmentGNA111.80
133Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.80
134Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.80
135Pregnancy loss, recurrent 2EnrichmentF21.80
136Mahvash diseaseEnrichmentGCGR1.80
137Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.80
138Spinocerebellar ataxia 44EnrichmentGRM11.80
139Sick sinus syndrome 4EnrichmentGNB21.80
140Amelogenesis imperfecta, hypomaturation type, iia6EnrichmentGPR681.80
141Intellectual developmental disorder, autosomal dominant 63, with macrocephalyEnrichmentTRIO1.80
142Serum amyloid a amyloidosisEnrichmentSAA11.80
143Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.80
144Auriculocondylar syndrome 2bEnrichmentPLCB41.80
145NarcolepsyEnrichmentHCRT1.80
146Isolated gonadotropin-releasing hormone deficiencyEnrichmentGNRHR1.80
147Short stature due to growth hormone secretagogue receptor deficiencyEnrichmentGHSR1.80
148Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.80
149HypospadiasEnrichmentPIK3CA1.80
150Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.80
151HypercalcemiaEnrichmentCASR1.80
152Prothrombin deficiencyEnrichmentF21.80
153Familial hypocalciuric hypercalcemiaEnrichmentCASR1.80
154Congenital pulmonary airway malformationEnrichmentKRAS1.80
155Rare venous malformationEnrichmentPIK3CA1.80
156Immunodeficiency 64EnrichmentRASGRP11.80
157Diaphragmatic eventrationEnrichmentPIK3CA1.80
158Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP11.80
159Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.80
160Short sleep, familial natural, 3EnrichmentNPSR11.80
161Rare combined vascular malformationEnrichmentPIK3CA1.80
162Bleeding diathesis due to thromboxane synthesis deficiencyEnrichmentTBXA2R1.80
163Cavernous lymphangiomaEnrichmentPIK3CA1.80
164Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.80
165Phakomatosis pigmentokeratoticaEnrichmentHRAS1.80
166Phakomatosis cesiomarmorataEnrichmentGNA111.80
167Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.80
168Kaposiform hemangioendotheliomaEnrichmentGNA141.80
169Chondromyxoid fibromaEnrichmentGRM11.80
170Eccrine angiomatous hamartomaEnrichmentPIK3CA1.80
171Macrodactyly of toeEnrichmentPIK3CA1.80
172Neurocutaneous melanocytosisEnrichmentNRAS1.80
173Hereditary arginine vasopressin deficiencyEnrichmentAVP1.80
174Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.75
175Hemolytic uremic syndrome, atypical 1EnrichmentC3AR1, DGKE1.70
176HemimegalencephalyEnrichmentAKT3, PIK3CA1.70
177Lung cancer susceptibility 3EnrichmentEGFR, KRAS1.69
178Pituitary stalk interruption syndromeEnrichmentKISS1R, PROKR21.69
179AchromatopsiaEnrichmentGNAT2, OPN1MW1.66
180MeningiomaEnrichmentAKT1, PIK3CA, SMO1.66
181Lynch syndromeEnrichmentKRAS, PIK3CA1.64
182Male infertility with spermatogenesis disorderEnrichmentPROK2, PROKR21.64
183Thiourea tastingEnrichmentTAS2R381.63
184Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.63
185Metachromatic leukodystrophy due to saposin b deficiencyEnrichmentPSAP1.63
186Complement component 5 deficiencyEnrichmentC51.63
187Colorblindness, partial, deutan seriesEnrichmentOPN1MW1.63
188Night blindness, congenital stationary, autosomal dominant 1EnrichmentRHO1.63
189Pseudohypoparathyroidism, type icEnrichmentGNAS1.63
190Carney complex, type 1EnrichmentPRKAR1A1.63
191Osseous heteroplasia, progressiveEnrichmentGNAS1.63
192Hemolytic uremic syndrome, atypical 5EnrichmentC31.63
193Polycystic lung diseaseEnrichmentCCR21.63
194Tremor, hereditary essential, 1EnrichmentDRD31.63
195Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.63
196Epilepsy, familial temporal lobe, 8EnrichmentGAL1.63
197Deafness, autosomal recessive 44EnrichmentADCY11.63
198Eculizumab, poor response toEnrichmentC51.63
199Whim syndrome 1EnrichmentCXCR41.63
200Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK51.63
201Ventricular tachycardia, familialEnrichmentGNAI21.63
202TritanopiaEnrichmentOPN1SW1.63
203Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.63
204Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.63
205Pituitary adenoma 3, multiple typesEnrichmentGNAS1.63
206Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.63
207Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.63
208Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.63
209Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.63
210Neurodevelopmental disorder with poor language and loss of hand skillsEnrichmentGABBR21.63
211Developmental and epileptic encephalopathy 59EnrichmentGABBR21.63
212Colorblindness, partial, protan seriesEnrichmentOPN1LW1.63
213Deafness, autosomal recessive 68EnrichmentS1PR21.63
214Cardioacrofacial dysplasia 2EnrichmentPRKACB1.63
215Parkinson disease 24, autosomal dominantEnrichmentPSAP1.63
216Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.63
217Myxoma, intracardiacEnrichmentPRKAR1A1.63
218Neurodevelopmental disorder with or without early-onset generalized epilepsyEnrichmentNBEA1.63
219Prolonged electroretinal response suppression 1EnrichmentRGS91.63
220Houge-janssens syndrome 2EnrichmentPPP2R1A1.63
221Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.63
222Spinocerebellar ataxia 14EnrichmentPRKCG1.63
223Gaucher disease, atypical, due to saposin c deficiencyEnrichmentPSAP1.63
224Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.63
225Retinitis pigmentosa 44EnrichmentRGR1.63
226Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.63
227Dystonia 25EnrichmentGNAL1.63
228Night blindness, congenital stationary, type 1gEnrichmentGNAT11.63
229Long qt syndrome 16EnrichmentCALM31.63
230Acrodysostosis 2 with or without hormone resistanceEnrichmentPDE4D1.63
231Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.63
232Oculomotor-abducens synkinesisEnrichmentACKR31.63
233Retinitis pigmentosa 4EnrichmentRHO1.63
234Macular degeneration, age-related, 9EnrichmentC31.63
235Type 1 diabetes mellitus 22EnrichmentCCR51.63
236Krabbe disease, atypical, due to saposin a deficiencyEnrichmentPSAP1.63
237Disorders of gnas inactivationEnrichmentGNAS1.63
238Complement component 3 deficiency, autosomal recessiveEnrichmentC31.63
239Macular degeneration, age-related, 12EnrichmentCX3CR11.63
240Cardioacrofacial dysplasia 1EnrichmentPRKACA1.63
241Thrombocytopenia 6EnrichmentSRC1.63
242Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.63
243Deafness, autosomal dominant 74EnrichmentPDE1C1.63
244Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesEnrichmentGRM71.63
245Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.63
246Beta-glucopyranoside tastingEnrichmentTAS2R161.63
247Red-green color blindnessEnrichmentOPN1MW1.63
248Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosisEnrichmentOXGR11.63
249Neurodevelopmental disorder with language delay and variable cognitive abnormalitiesEnrichmentGABBR11.63
250Whim syndrome 2EnrichmentCXCR21.63
251Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.63
252Complement component 3 deficiencyEnrichmentC31.63
253Long qt syndrome 15EnrichmentCALM21.63
254Lipodystrophy, familial partial, type 8EnrichmentADRA2A1.63
255Autonomic nervous system diseaseEnrichmentDRD41.63
256Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.63
257Membranoproliferative glomerulonephritisEnrichmentC31.63
258Primary membranoproliferative glomerulonephritisEnrichmentC31.63
259Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR21.63
260Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.63
261Monostotic fibrous dysplasiaEnrichmentGNAS1.63
262Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.63
263Mazabraud syndromeEnrichmentGNAS1.63
264Robinow syndrome, autosomal recessive 1EnrichmentFZD2, WNT5A1.61
265Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA1.54
266Spinocerebellar ataxia 29EnrichmentITPR11.50
267Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.50
268Fibromatosis, gingival, 1EnrichmentSOS11.50
269Scoliosis, isolated 1EnrichmentMAPK71.50
270Aganglionosis, total intestinalEnrichmentEDNRB1.50
271Costello syndromeEnrichmentHRAS1.50
272Cutis marmorata telangiectatica congenitaEnrichmentGNA111.50
273Hyperparathyroidism, neonatal severeEnrichmentCASR1.50
274Abcd syndromeEnrichmentEDNRB1.50
275Pulmonic stenosisEnrichmentSOS11.50
276Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.50
277Histiocytoma, angiomatoid fibrousEnrichmentCREB11.50
278Obsessive-compulsive disorderEnrichmentHTR2A1.50
279Deafness, autosomal recessive 28EnrichmentTRIO1.50
280Keratosis, seborrheicEnrichmentPIK3CA1.50
281Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.50
282Hypogonadotropic hypogonadism 11 with or without anosmiaEnrichmentTACR31.50
283Growth hormone deficiency, isolated partialEnrichmentGHSR1.50
284Angioma, tuftedEnrichmentGNA141.50
285Night blindness, congenital stationary, type 1hEnrichmentGNB31.50
286Noonan syndrome 8EnrichmentPIK3CA1.50
287Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentFFAR41.50
288Agammaglobulinemia, x-linkedEnrichmentBTK1.50
289Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.50
290Central precocious pubertyEnrichmentKISS1R1.50
291Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractEnrichmentABHD121.50
292Ocular melanomaEnrichmentPLCB41.50
293Nephrotic syndrome, type 7EnrichmentDGKE1.50
294Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.50
295Progressive retinal dystrophy due to retinol transport defectEnrichmentFFAR41.50
296Qualitative or quantitative defects of caveolin-3EnrichmentOXTR1.50
297Hemolytic-uremic syndromeEnrichmentDGKE1.50
298Cerebral visual impairmentEnrichmentGNB11.50
299Wooly hair nevusEnrichmentHRAS1.50
300OsteoporosisEnrichmentCALCR, SRC, WNT11.47
301Basal cell nevus syndrome 1EnrichmentPTCH1, PTCH21.45
302Basal cell carcinoma 1EnrichmentPTCH1, PTCH21.45
303Autosomal recessive robinow syndromeEnrichmentFZD2, WNT5A1.45
304Arteriovenous malformations of the brainEnrichmentEGFR, KRAS1.44
305Pseudohypoparathyroidism, type iaEnrichmentGNAS1.33
306Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.33
307Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.33
308N-acetylglutamate synthase deficiencyEnrichmentPYY1.33
309West nile virusEnrichmentCCR51.33
310PseudopseudohypoparathyroidismEnrichmentGNAS1.33
311Bleeding disorder, platelet-type, 8EnrichmentP2RY121.33
312Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.33
313Lethal congenital contracture syndrome 8EnrichmentADCY61.33
314Chudley-mccullough syndromeEnrichmentGPSM21.33
315Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.33
316Chromosome 5q12 deletion syndromeEnrichmentPDE4D1.33
317LathosterolosisEnrichmentC51.33
318Spinocerebellar ataxia 23EnrichmentPDYN1.33
319Long qt syndrome 14EnrichmentCALM11.33
320Houge-janssens syndrome 1EnrichmentPPP2R5D1.33
321Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.33
322Neuropathy, congenital hypomyelinating, 2EnrichmentRHO1.33
323Neutropenia, severe congenital, 10, autosomal recessiveEnrichmentGALR21.33
324Cerebellar, ocular, craniofacial, and genital syndromeEnrichmentNBEA1.33
325Usher syndrome, type ivEnrichmentPRKAR1A1.33
326Combined saposin deficiencyEnrichmentPSAP1.33
327Optic disk drusenEnrichmentRHO1.33
328Body mass index quantitative trait locus 19EnrichmentADCY31.33
329Fibrolamellar carcinomaEnrichmentPRKACA1.33
330Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.33
331HypopituitarismEnrichmentGNAI21.33
332BradyopsiaEnrichmentRGS91.33
333Combined psap deficiencyEnrichmentPSAP1.33
334Houge-janssens syndrome 3EnrichmentPPP2CA1.33
335Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.33
336Proteus syndromeEnrichmentAKT11.33
337Hypertension and brachydactyly syndromeEnrichmentPDE3A1.33
338Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.33
339Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.33
340Body mass index quantitative trait locus 9EnrichmentMC3R1.33
341Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR21.33
342Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR21.33
343Asthma-related traits 1EnrichmentPTGDR1.33
344Striatal degeneration, autosomal dominant 1EnrichmentPDE8B1.33
345Resting heart rate, variation inEnrichmentADRB11.33
346Blepharospasm, benign essentialEnrichmentDRD51.33
347Noonan syndrome 9EnrichmentSOS21.33
348Increased analgesia from kappa-opioid receptor agonist, female-specificEnrichmentMC1R1.33
349Dyskinesia, limb and orofacial, infantile-onsetEnrichmentPDE10A1.33
350Charcot-marie-tooth disease, demyelinating, type 4hEnrichmentFGD41.33
351Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.33
352Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.33
353Ovarian dysgenesis 1EnrichmentFSHR1.33
354Spinal muscular atrophy, facioscapulohumeral typeEnrichmentPLEKHG51.33
355Immunodeficiency 62EnrichmentARHGEF11.33
356Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.33
357Twinning, dizygoticEnrichmentFSHR1.33
358Retinitis pigmentosa 78EnrichmentARHGEF181.33
359Skin/hair/eye pigmentation, variation in, 2EnrichmentMC1R1.33
360Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.33
361Hypothyroidism, congenital, nongoitrous, 4EnrichmentTSHB1.33
362Body mass index quantitative trait locus 20EnrichmentMC4R1.33
363Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.33
364Intellectual developmental disorder with paroxysmal dyskinesia or seizuresEnrichmentPDE2A1.33
365X-linked nephrogenic diabetes insipidusEnrichmentAVPR21.33
366Charcot-marie-tooth disease type 4hEnrichmentFGD41.33
367Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.33
368Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.33
369Ovarian hyperstimulation syndromeEnrichmentFSHR1.33
370Cowden syndrome 6EnrichmentAKT11.33
371AmenorrheaEnrichmentFSHR1.33
372Melanoma, cutaneous malignant 5EnrichmentMC1R1.33
373Brachydactyly, type e2EnrichmentPTHLH1.33
374Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.33
375Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.33
376Schizophrenia 16EnrichmentVIPR21.33
377Pigmented nodular adrenocortical disease, primary, 3EnrichmentPDE8B1.33
378Striatal degeneration, autosomal dominant 2EnrichmentPDE10A1.33
379Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.33
380Takenouchi-kosaki syndromeEnrichmentCDC421.33
381Isolated growth hormone deficiency, type ivEnrichmentGHRHR1.33
382Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM11.33
383Short sleep, familial natural, 2EnrichmentADRB11.33
384Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.33
385Obesity due to melanocortin 4 receptor deficiencyEnrichmentMC4R1.33
386Capillary hemangiomaEnrichmentAKT31.33
387Striatal degeneration, autosomal dominantEnrichmentPDE8B1.33
388Acute encephalopathy with biphasic seizures and late reduced diffusionEnrichmentADORA2A1.33
389Nocarh syndromeEnrichmentCDC421.33
390Childhood-onset benign chorea with striatal involvementEnrichmentPDE10A1.33
391Akt2-related familial partial lipodystrophyEnrichmentAKT21.33
392BlepharospasmEnrichmentDRD51.33
393Prune belly syndromeEnrichmentCHRM31.33
394Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentPROKR21.33
395Gillespie syndromeEnrichmentITPR11.33
396Pompe disease, infantile-onsetEnrichmentPIK3CA1.33
397Hirschsprung disease 2EnrichmentEDNRB1.33
398Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.33
399Nuchal bleb, familialEnrichmentSOS11.33
400Langerhans cell histiocytosisEnrichmentNRAS1.33
401Rippling muscle disease 2EnrichmentOXTR1.33
402Long qt syndrome 9EnrichmentOXTR1.33
403Myopathy, distal, tateyama typeEnrichmentOXTR1.33
404Woolly hair, autosomal recessive 3EnrichmentLPAR61.33
405Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.33
406Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.33
407Hypotrichosis 8EnrichmentLPAR61.33
408Agammaglobulinemia 1EnrichmentBTK1.33
409Intellectual developmental disorder, autosomal dominant 44, with microcephalyEnrichmentTRIO1.33
410Precocious puberty, central, 2EnrichmentKISS1R1.33
411Immunodeficiency 14EnrichmentPIK3R11.33
412Parathyroid adenomaEnrichmentCASR1.33
413SpermatocytomaEnrichmentHRAS1.33
414Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.33
415Melanoma of soft tissueEnrichmentCREB11.33
416KeratoacanthomaEnrichmentPIK3CA1.33
417Cerebral sinovenous thrombosisEnrichmentF21.33
418Coats diseaseEnrichmentFZD4, RHO1.32
419Overgrowth syndromeEnrichmentPIK3R1, PTCH11.32
420DystoniaEnrichmentCAMK2B, GNAL, GNB11.31
421Holoprosencephaly 3EnrichmentSHH1.28
422Vibratory urticariaEnrichmentADGRE21.28
423Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.28
424Mullerian aplasia and hyperandrogenismEnrichmentWNT41.28
42546,xy sex reversal 7EnrichmentDHH1.28
426Mcleod syndromeEnrichmentXK1.28
427Curry-jones syndromeEnrichmentSMO1.28
42846,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.28
429Schilbach-rott syndromeEnrichmentPTCH11.28
430Omodysplasia 2EnrichmentFZD21.28
431White blood cell count quantitative trait locus 1EnrichmentACKR11.28
432Blood group--kell systemEnrichmentKEL1.28
433Microphthalmia/coloboma 5EnrichmentSHH1.28
434Split-hand/foot malformation 6EnrichmentWNT10B1.28
435Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD551.28
436Blood group, cromer systemEnrichmentCD551.28
437Tooth agenesis, selective, 8EnrichmentWNT10B1.28
438Diarrhea 9EnrichmentWNT2B1.28
439Bone mineral density quantitative trait locus 16EnrichmentWNT11.28
440Acrocapitofemoral dysplasiaEnrichmentIHH1.28
441Santos syndromeEnrichmentWNT7A1.28
442Hirschsprung disease, cardiac defects, and autonomic dysfunctionEnrichmentECE11.28
443Periodic fever, menstrual cycle-dependentEnrichmentHTR1A1.28
444Microphthalmia/coloboma 11EnrichmentFZD51.28
445Turner syndromeEnrichmentPTCH11.28
446Protein-losing enteropathyEnrichmentCD551.28
447Monosomy 9q22.3EnrichmentPTCH11.28
448Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH1.28
449Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.21
450Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.21
451Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.21
452Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.21
453Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.21
454Spinocerebellar ataxia 15EnrichmentITPR11.21
455Developmental and epileptic encephalopathy 12EnrichmentPLCB11.21
456Cardiofaciocutaneous syndromeEnrichmentKRAS1.21
457Lung sarcomatoid carcinomaEnrichmentKRAS1.21
458Cerebrovascular diseaseEnrichmentPIK3CA1.21
459Pilocytic astrocytomaEnrichmentKRAS1.21
460Epidermolytic nevusEnrichmentHRAS1.21
461Diabetes insipidusEnrichmentAVP1.21
462Familial cerebral cavernous malformationsEnrichmentPIK3CA1.21
463Gingival fibromatosisEnrichmentSOS11.21
464Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentKNG11.21
465Familial sick sinus syndromeEnrichmentGNB21.21
466Cryptorchidism, unilateral or bilateralEnrichmentINSL3, RXFP21.20
467Cowden syndromeEnrichmentAKT1, PIK3CA1.20
468Mccune-albright syndromeEnrichmentGNAS1.16
469Night blindness, congenital stationary, type 1bEnrichmentGRM61.16
470Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC1.16
471Hepatitis c virusEnrichmentCCR51.16
472Nizon-isidor syndromeEnrichmentP2RY121.16
473Microcephaly 17, primary, autosomal recessiveEnrichmentRHO1.16
474Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.16
475Aggressive periodontitisEnrichmentFPR11.16
476Genetic atypical hemolytic-uremic syndromeEnrichmentC31.16
477Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.16
478Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC1.16
479Non-immune hydrops fetalisEnrichmentCALCRL, FZD6, HRAS, KRAS1.12
480Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPROKR21.11
481Major depressive disorderEnrichmentHTR2A1.11
482Narcolepsy 2EnrichmentHCRT1.11
483Familial woolly hair syndromeEnrichmentLPAR61.11
484Attention deficit-hyperactivity disorderEnrichmentDRD4, DRD5, GNB51.10
485Macs syndromeEnrichmentPTCH1, SHH, WNT7B1.08
486Chorea, benign hereditaryEnrichmentADCY51.04
487Krabbe diseaseEnrichmentPSAP1.04
488Pseudohypoparathyroidism, type ibEnrichmentGNAS1.04
489Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.04
490Tobacco addictionEnrichmentGABBR21.04
491Hereditary ataxiaEnrichmentPRKCG1.04
492Failure of tooth eruption, primaryEnrichmentPTH1R1.04
493Hypoparathyroidism, familial isolated, 1EnrichmentPTH1.04
494Precocious puberty, male-limitedEnrichmentLHCGR1.04
495Glucocorticoid deficiency 1EnrichmentMC2R1.04
496Metaphyseal chondrodysplasia, jansen typeEnrichmentPTH1R1.04
497Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.04
498Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.04
499Leydig cell hypoplasia, type iEnrichmentLHCGR1.04
500Chondrodysplasia, blomstrand typeEnrichmentPTH1R1.04
501Hypogonadotropic hypogonadism 24 with or without anosmiaEnrichmentFSHB1.04
502Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.04
503Hyperthyroidism, familial gestationalEnrichmentTSHR1.04
504Eiken syndromeEnrichmentPTH1R1.04
505Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B1.04
506Pigmented nodular adrenocortical disease, primary, 2EnrichmentPDE11A1.04
507Neuronopathy, distal hereditary motor, autosomal recessive 4EnrichmentPLEKHG51.04
508Charcot-marie-tooth disease, recessive intermediate cEnrichmentPLEKHG51.04
509Senior-loken syndrome 7EnrichmentAKT31.04
510Lymphatic malformation 8EnrichmentCALCRL1.04
511Immune system diseaseEnrichmentCDC421.04
512Bardet-biedl syndrome 16EnrichmentAKT31.04
513Aarskog syndromeEnrichmentFGD11.04
514Leydig cell hypoplasia type iiEnrichmentLHCGR1.04
515Albinism, ocular, type iEnrichmentGPR1431.04
516Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.04
517Waardenburg syndromeEnrichmentEDNRB1.04
518AlbinismEnrichmentGPR1431.04
519Tooth agenesis, selective, 4EnrichmentWNT10A0.99
520Pallister-hall-like syndromeEnrichmentSMO0.99
521Schopf-schulz-passarge syndromeEnrichmentWNT10A0.99
522Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A0.99
523Bladder exstrophy and epispadias complexEnrichmentWNT30.99
524Odontoonychodermal dysplasiaEnrichmentWNT10A0.99
52546,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH0.99
526Tetraamelia syndrome 1EnrichmentWNT30.99
527Osteogenesis imperfecta, type xvEnrichmentWNT10.99
528Solitary median maxillary central incisorEnrichmentSHH0.99
529Robinow syndrome, autosomal dominant 3EnrichmentFZD20.99
530Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A0.99
531Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT30.99
532Isolated radial hemimeliaEnrichmentSHH0.99
533Commissural facial cleftEnrichmentPTCH20.99
534Thrombophilia due to thrombin defectEnrichmentF20.97
535Squamous cell carcinoma, head and neckEnrichmentEGFR0.97
536Waardenburg syndrome, type 2eEnrichmentEDNRB0.97
537Alzheimer's disease 1EnrichmentAPP0.97
538Pilomyxoid astrocytomaEnrichmentKRAS0.97
539Amelogenesis imperfecta type 2EnrichmentGPR680.97
540Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP0.97
541Moyamoya angiopathyEnrichmentARHGEF250.97
542Retinal detachmentEnrichmentRHO0.95
543Breast-ovarian cancer, familial 2EnrichmentGPSM20.95
544Night blindnessEnrichmentRHO0.95
545Diffuse cutaneous systemic sclerosisEnrichmentCCR60.95
546Breast cancerEnrichmentGNG3, KRAS, PIK3CA0.93
547Gastroesophageal refluxEnrichmentRPS6KA30.92
548Myopathy, tubular aggregate, 1EnrichmentOXTR0.92
549Orthostatic intoleranceEnrichmentRPS6KA30.92
550HypothyroidismEnrichmentGNB10.92
551Septooptic dysplasiaEnrichmentPROKR2, SHH0.90
552Cerebral palsyEnrichmentF2, GNB10.89
553Leukemia, acute myeloidEnrichmentKRAS, NRAS0.88
554Alcohol dependenceEnrichmentTAS2R160.88
555Metachromatic leukodystrophyEnrichmentPSAP0.88
556Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.88
557Familial adult myoclonic epilepsyEnrichmentADRA2B0.88
558Adrenocortical carcinomaEnrichmentPRKAR1A0.88
559Limited sclerodermaEnrichmentCCR60.88
560Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentC30.88
561Asthma, nasal polyps, and aspirin intoleranceEnrichmentPTGER20.87
562Aarskog-scott syndromeEnrichmentFGD10.87
563Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B0.87
564Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentFGD10.87
565Glomerulopathy with fibronectin deposits 2EnrichmentFN10.87
566Hyperthyroidism, nonautoimmuneEnrichmentTSHR0.87
567Hypothyroidism, congenital, nongoitrous, 1EnrichmentTSHR0.87
568Isolated growth hormone deficiency, type ibEnrichmentGHRHR0.87
569Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentPLEKHG20.87
570Gonadal dysgenesisEnrichmentFSHR0.87
571Nephrogenic diabetes insipidusEnrichmentAVPR20.87
572Syndromic x-linked intellectual disability claes-jensen typeEnrichmentFGD10.87
573Familial hyperthyroidism due to mutations in tsh receptorEnrichmentTSHR0.87
574Coronary heart disease 5EnrichmentKALRN0.87
575Developmental and epileptic encephalopathy 14EnrichmentPLCB10.87
576Adult hepatocellular carcinomaEnrichmentPIK3CA0.87
577Congenital central hypoventilation syndromeEnrichmentEDN30.87
578Ventricular septal defectEnrichmentRPS6KA30.87
579Autosomal dominant cerebellar ataxiaEnrichmentDAGLA0.87
580Hypotrichosis simplexEnrichmentLPAR60.87
581Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.83
582Brachydactyly, type a1EnrichmentIHH0.83
583Syndactyly, type ivEnrichmentSHH0.83
584Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT40.83
585Microphthalmia, syndromic 9EnrichmentWNT7B0.83
586Tooth agenesis, selective, 2EnrichmentWNT10A0.83
587Holoprosencephaly 7EnrichmentPTCH10.83
588Nail diseaseEnrichmentFZD60.83
589Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH0.83
590Tetraamelia syndromeEnrichmentWNT30.83
591Mpv17-related mitochondrial dna maintenance defectEnrichmentUCN0.83
592Gastric cancerEnrichmentKRAS, PIK3CA0.83
593Nephrotic syndromeEnrichmentDGKE, TRPC60.83
594Atypical hemolytic-uremic syndromeEnrichmentC3, DGKE0.82
595Fundus albipunctatusEnrichmentRHO0.81
596MyelofibrosisEnrichmentSRC0.81
597Rett syndromeEnrichmentGABBR20.81
598BrachydactylyEnrichmentGNAS0.81
599Immunodeficiency due to a late component of complement deficiencyEnrichmentC50.81
600Hereditary breast carcinomaEnrichmentKRAS, PIK3CA0.81
601Colorectal cancerEnrichmentNRAS, PIK3CA, PIK3R10.79
602Leukemia, acute lymphoblasticEnrichmentGNB10.79
603Myelodysplastic syndromeEnrichmentGNB10.79
604MedulloblastomaEnrichmentPTCH1, PTCH20.78
605Long qt syndromeEnrichmentCALM1, CALM20.78
606Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.76
607Rett syndrome, congenital variantEnrichmentGABBR20.76
608Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.76
609Essential tremorEnrichmentDRD30.76
610Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN10.76
611Smith-lemli-opitz syndromeEnrichmentTSHR0.76
612Bone mineral density quantitative trait locus 15EnrichmentCALCR0.76
613Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC420.76
614Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS20.76
615Congenital long qt syndromeEnrichmentITPR30.76
616Septopreoptic holoprosencephalyEnrichmentPTCH1, SHH0.74
617Midline interhemispheric variant of holoprosencephalyEnrichmentPTCH1, SHH0.74
618Syndromic intellectual disabilityEnrichmentPTH2R, TRIO0.73
619Aortic valve disease 1EnrichmentSOS10.72
620Alzheimer's diseaseEnrichmentAPP0.72
621Amelogenesis imperfectaEnrichmentGPR680.72
622Protein-deficiency anemiaEnrichmentNRAS0.72
623Neurofibromatosis, type iEnrichmentGABBR10.71
624Primary hyperaldosteronismEnrichmentGNAS0.71
625Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A0.71
626Mitochondrial dna depletion syndrome 6EnrichmentUCN0.71
627SchizencephalyEnrichmentSHH0.71
628Charcot-marie-tooth disease, axonal, type 2eeEnrichmentUCN0.71
629Ectodermal dysplasiaEnrichmentWNT10A0.71
630Retinopathy of prematurityEnrichmentFZD40.71
631Eyelid colobomaEnrichmentFZD50.71
632Lens colobomaEnrichmentFZD50.71
633HypertelorismEnrichmentPIK3CA, RPS6KA30.70
634Multiple sclerosisEnrichmentITPR10.70
63546,xy partial gonadal dysgenesisEnrichmentSOS10.70
636Creatine phosphokinase, elevated serumEnrichmentOXTR, XK0.69
637Isolated elevated serum creatine phosphokinase levelsEnrichmentOXTR, XK0.69
638RhabdomyosarcomaEnrichmentHRAS, PTCH10.69
639Microform holoprosencephalyEnrichmentPTCH1, SHH0.69
640Lobar holoprosencephalyEnrichmentPTCH1, SHH0.69
641Enchondromatosis, multiple, ollier typeEnrichmentPTH1R0.67
642Albinism, oculocutaneous, type iiEnrichmentMC1R0.67
643Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentPDE2A0.67
644PseudohermaphroditismEnrichmentLHCGR0.67
645Familial glucocorticoid deficiencyEnrichmentMC2R0.67
646Anterior segment dysgenesisEnrichmentITPR10.67
647Cone-rod dystrophy 2EnrichmentOPN1LW, OPN1MW, RHO0.67
648Ovarian cancerEnrichmentEGFR, KRAS, PIK3CA0.66
649Alobar holoprosencephalyEnrichmentPTCH1, SHH0.65
650Myeloma, multipleEnrichmentKRAS, PIK3R20.65
651Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPROK2, PROKR20.65
652GliosarcomaEnrichmentEGFR0.64
653Non-syndromic x-linked intellectual disabilityEnrichmentAGTR2, ARHGEF6, RPS6KA30.63
654Exudative vitreoretinopathy 1EnrichmentFZD40.63
655Congenital disorder of glycosylation, type idEnrichmentEEF1AKMT4-ECE20.63
656Norrie diseaseEnrichmentFZD40.63
657Cholangitis, primary sclerosingEnrichmentGPR350.63
658Robinow syndrome, autosomal dominant 2EnrichmentFZD20.63
659Persistent hyperplastic primary vitreousEnrichmentFZD40.63
660Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A0.63
661Coloboma of choroid and retinaEnrichmentFZD50.63
662Alzheimer disease, familial, 1EnrichmentAPP0.62
663Pancreatitis, hereditaryEnrichmentCASR0.62
664Cleft palate, isolatedEnrichmentGNB10.62
665Giant cell glioblastomaEnrichmentEGFR0.62
666Semilobar holoprosencephalyEnrichmentPTCH1, SHH0.62
667Heart, malformation ofEnrichmentMAPK10.60
668Diffuse large b-cell lymphomaEnrichmentBTK0.58
669Acute promyelocytic leukemiaEnrichmentPRKAR1A0.57
670Focal segmental glomerulosclerosisEnrichmentTRPC60.56
671Coloboma of optic nerveEnrichmentFZD50.56
672Dystonia 11, myoclonicEnrichmentDRD20.56
673Renal dysplasia, cysticEnrichmentWNT9B0.56
674Renal hypoplasiaEnrichmentWNT9B0.56
675DiarrheaEnrichmentWNT2B0.56
676Multicystic kidney dysplasiaEnrichmentFZD30.56
677Multicystic dysplastic kidneyEnrichmentFZD30.56
678Cone-rod dystrophy 6EnrichmentGNAT20.55
679CataractEnrichmentRHO0.55
680Hypothyroidism, congenital, nongoitrous, 2EnrichmentTSHR0.55
681MegacolonEnrichmentAKT30.55
682Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCRH0.55
683Paroxysmal dystoniaEnrichmentPDE2A0.55
684Endometrial cancerEnrichmentPIK3CA0.54
685Hepatocellular carcinomaEnrichmentPIK3CA0.53
686Cone dystrophyEnrichmentABHD12, GNAT20.51
687MicrocephalyEnrichmentGNB1, MAPK1, TRIO0.51
688ThrombocytopeniaEnrichmentP2RY12, SRC0.51
689Congenital hydrocephalusEnrichmentPTCH10.50
690Spondylocostal dysostosis 1, autosomal recessiveEnrichmentPLEKHG20.50
691CryptorchidismEnrichmentINSL30.50
692Choreatic diseaseEnrichmentPDE2A0.50
693Cardiomyopathy, familial hypertrophic, 1EnrichmentOXTR0.49
694MicrophthalmiaEnrichmentPTCH1, WNT7B0.49
695Tooth agenesisEnrichmentWNT10A, WNT10B0.49
696Pancreatic cancerEnrichmentKRAS0.48
697Jeune thoracic dystrophyEnrichmentGRK20.48
698Sudden infant death syndromeEnrichmentCALM20.48
699Hydrops fetalis, nonimmuneEnrichmentHRAS0.47
700Early infantile developmental and epileptic encephalopathyEnrichmentGRM70.46
701Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, GPSM2, S1PR20.46
702Juvenile amyotrophic lateral sclerosisEnrichmentPLEKHG50.46
703Renal hypodysplasia/aplasia 1EnrichmentWNT9B0.46
704Exudative vitreoretinopathyEnrichmentFZD40.46
705Isolated split hand-split foot malformationEnrichmentWNT10B0.46
706StrabismusEnrichmentGNB10.45
707Asphyxiating thoracic dystrophyEnrichmentGRK20.44
708Behcet syndromeEnrichmentCCR10.44
709Parkinson's diseaseEnrichmentPSAP0.44
710Prostate cancerEnrichmentPIK3CA0.43
711Severe covid-19EnrichmentDGKE0.43
712PolymicrogyriaEnrichmentAKT30.42
713MelanomaEnrichmentMC1R0.42
714Undetermined early-onset epileptic encephalopathyEnrichmentGABBR2, PPP3CA0.42
715Renal agenesis, bilateralEnrichmentWNT9B0.42
716Cystic fibrosisEnrichmentEDNRA0.40
717Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.39
718Familial hypertrophic cardiomyopathyEnrichmentOXTR0.39
719Cat eye syndromeEnrichmentFZD50.38
720Genetic steroid-resistant nephrotic syndromeEnrichmentTRPC60.38
721Parkinson disease, late-onsetEnrichmentPSAP0.36
722Congenital hypothyroidismEnrichmentTSHR0.36
72346 xx gonadal dysgenesisEnrichmentFSHR0.36
724AsthmaEnrichmentCCL110.35
72546,xy complete gonadal dysgenesisEnrichmentDHH0.35
726Neural tube defectsEnrichmentITGB10.34
727Pulmonary disease, chronic obstructiveEnrichmentPDE3B0.34
728Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.32
729Cleft lip/palateEnrichmentARHGEF380.31
730Centralopathic epilepsyEnrichmentPLCB10.30
731Hypertrophic cardiomyopathyEnrichmentCASR0.30
732Microphthalmia/coloboma 12EnrichmentFZD50.30
733Osteogenesis imperfecta, type ivEnrichmentWNT10.30
734Chronic kidney diseaseEnrichmentWNT9B0.30
735West syndromeEnrichmentPLCB10.29
736AutismEnrichmentCAMK2G, NBEA0.29
737Autism spectrum disorderEnrichmentGNB1, TACR30.28
738SchizophreniaEnrichmentDRD3, HTR2A, PDE11A0.28
739Perrault syndrome 1EnrichmentFSHR0.27
740Sensorineural hearing lossEnrichmentEDN30.27
741Coloboma of maculaEnrichmentFZD50.26
742Polydactyly, postaxial, type a1EnrichmentPTCH10.26
743Osteogenesis imperfecta, type iiiEnrichmentWNT10.26
744HydrocephalusEnrichmentFZD30.26
745Melanoma, cutaneous malignant 1EnrichmentMC1R0.26
746EpilepsyEnrichmentNBEA, TSHR0.25
747Eye diseaseEnrichmentGNAT20.25
748Spastic ataxiaEnrichmentITPR10.24
749Charcot-marie-tooth disease type 4EnrichmentFGD40.24
750Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.23
751Type 2 diabetes mellitusEnrichmentAKT2, MTNR1B0.23
752Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN10.22
753Deafness, autosomal recessiveEnrichmentEDNRB0.20
754Autosomal recessive nonsyndromic deafnessEnrichmentEDNRB0.19
755Leber plus diseaseEnrichmentGRM6, RGS90.18
756Hereditary retinal dystrophyEnrichmentGNAT1, GNAT2, GRM6, RGR, RGS9, RHO0.17
757Fundus dystrophyEnrichmentGNAT1, GNAT2, GRM6, RGR, RGS9, RHO0.17
758Brittle bone disorderEnrichmentWNT10.15
759MalariaEnrichmentACKR10.15
760Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentPDE1C0.15
761Congenital nervous system abnormalityEnrichmentCAMK2B, GNB50.15
762Nervous system diseaseEnrichmentCAMK2B, GNB50.15
763Rare genetic deafnessEnrichmentEDNRB0.14
764Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRM70.13
765Complex neurodevelopmental disorderEnrichmentGNB2, PPP2CA0.10
766Developmental and epileptic encephalopathyEnrichmentARHGEF150.09
767Primary ciliary dyskinesiaEnrichmentPRKAR1B0.08
768Charcot-marie-tooth diseaseEnrichmentARHGEF100.07
769Hereditary spastic paraplegiaEnrichmentPLEKHG50.06
770Retinitis pigmentosaEnrichmentGNAT1, RGR, RHO0.06
771Inherited cancer-predisposing syndromeEnrichmentEGFR0.05
772Distal arthrogryposisEnrichmentFZD30.05

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