Activation of cAMP-Dependent PKA

Pathway network for the Activation of cAMP-Dependent PKA SuperPath

Sources:
  • QIAGEN

Pathways in the Activation of cAMP-Dependent PKA SuperPath

#NameSourceGenes
1Activation of cAMP-Dependent PKAQIAGEN
(see all 501) (see less)
2cAMP PathwayQIAGEN
(see all 542) (see less)
3Activation of PKA through GPCRQIAGEN
(see all 399) (see less)
4PKA SignalingQIAGEN
(see all 349) (see less)

Gene overlap in member pathways for Activation of cAMP-Dependent PKA SuperPath

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

Disorders associated with Activation of cAMP-Dependent PKA SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.59
2RasopathyEnrichmentBRAF, CLCN1, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS210.46
3Brugada syndromeEnrichmentAKAP9, CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SCNN1A9.39
4Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS8.27
5Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS17.77
6Long qt syndrome 1EnrichmentAKAP9, CACNA1C, CALM1, CALM2, CALM3, ITPR3, SCN10A, SCN4B, SCN5A7.40
7Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF16.37
8Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K26.13
9Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K26.13
10Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF15.95
11Loeys-dietz syndromeEnrichmentSMAD3, TGFB2, TGFB3, TGFBR1, TGFBR25.90
12Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK1, SCN10A, SCN11A, SCN9A5.88
13Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, FGF10, KRAS, ROS15.81
14Phosphorylase kinase deficiencyEnrichmentPHKA1, PHKA2, PHKB, PHKG25.68
15Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS1, PTCH1, SUFU5.41
16Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, FGF12, NTRK2, PPP3CA, SCN1A, SCN1B, SCN3A, SCN8A, YWHAG5.29
17Cardiac conduction defectEnrichmentCACNA1C, PLN, RYR2, SCN1B, SCN5A5.13
18Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR3, KRAS4.98
19Long qt syndromeEnrichmentAKAP9, CACNA1C, CACNA1S, CALM1, CALM2, RYR2, SCN5A4.96
20Differentiated thyroid carcinomaEnrichmentALK, BRAF, HRAS, KRAS, NRAS, NTRK1, NTRK34.79
21Liddle syndrome 1EnrichmentSCNN1A, SCNN1B, SCNN1G4.77
22Pseudohypoaldosteronism, type ib1, autosomal recessiveEnrichmentSCNN1A, SCNN1B, SCNN1G4.77
23Hereditary sodium channelopathy-related small fibers neuropathyEnrichmentSCN10A, SCN11A, SCN9A4.77
24Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D4, CNGB3, GNAT2, KCNV24.74
25Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS4.62
26Familial atrial fibrillationEnrichmentMYL4, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A4.60
27Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR34.60
28Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS4.60
29Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM3, RYR24.56
30Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D2, GNAO1, SCN1A, SCN2A, SCN3A, SCN8A4.51
31Developmental and epileptic encephalopathy 14EnrichmentKCNT1, PLCB1, SCN1A, SCN2A4.31
32Sudden infant death syndromeEnrichmentCALM2, PLN, SCN1A, SCN5A, TNNI34.28
33Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS14.23
34Erythermalgia, primaryEnrichmentSCN10A, SCN11A, SCN9A4.18
35Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C, RYR2, SCN5A4.18
36Idiopathic bronchiectasisEnrichmentSCNN1A, SCNN1B, SCNN1G4.18
37Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS1, PTCH14.14
38Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, CAMK2A, CAMK2B, ERBB4, GNB1, PPP3CA, SCN8A, YWHAZ4.11
39Dravet syndromeEnrichmentSCN1A, SCN1B, SCN2A, SCN9A4.10
40Arteriovenous malformationEnrichmentEPHB4, HRAS, MAP2K1, TEK4.08
41Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.01
42Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA, ROS14.00
43Generalized epilepsy with febrile seizures plusEnrichmentFGF13, SCN1A, SCN1B, SCN2A, SCN9A3.99
44Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYLK, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR23.93
45Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS1, PTCH13.87
46Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, MAP2K1, TEK3.87
47Paroxysmal extreme pain disorderEnrichmentSCN10A, SCN11A, SCN9A3.79
48Heart conduction diseaseEnrichmentCACNA1C, RYR2, SCN5A3.79
49Cardiac arrestEnrichmentCACNA2D1, PLN, SCN5A3.79
50Bladder cancerEnrichmentEGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS3.78
51Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, TIMP33.75
52Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB3.62
53Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D4, GNAT1, GNB3, GRK13.60
54Lung cancerEnrichmentALK, BRAF, EGFR, ERBB2, KRAS, MET3.53
55Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, HRAS, KIT3.52
56Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S, CLCN1, SCN4A3.50
57Cerebral palsyEnrichmentADD3, CACNA1A, CACNA1C, CLCN1, CLCN2, GNB13.35
58Basal cell nevus syndrome 1EnrichmentPTCH1, PTCH2, SUFU3.33
59Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG3.33
60Brugada syndrome 1EnrichmentCACNA2D1, SCN10A, SCN5A3.26
61Gallbladder cancerEnrichmentBRAF, CTNNB1, SMAD43.26
62Benign epilepsy with centrotemporal spikesEnrichmentKCNT1, PLCB1, SCN1A, SCN1B, SCN2A, SCN9A3.23
63Batten-turner congenital myopathyEnrichmentCLCN1, SCN4A3.18
64Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.18
65Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.18
66Achromatopsia 3EnrichmentCNGA3, CNGB33.18
67Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.18
68Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.18
69Malignant migrating partial seizures of infancyEnrichmentKCNT1, SCN2A3.18
70Glycogen storage disease due to liver phosphorylase kinase deficiencyEnrichmentPHKA2, PHKG23.18
71Distal arthrogryposisEnrichmentMYL11, RYR1, SCN4A, SCN5A, SCN8A, TNNI23.18
72Colorectal cancerEnrichmentAKT1, BRAF, DCC, FGFR2, FGFR3, IGF2, MET, NRAS, PIK3R1, PLA2G2A, SRC3.17
73Centralopathic epilepsyEnrichmentKCNT1, PLCB1, SCN1A, SCN1B, SCN2A, SCN9A3.12
74Ovarian cancerEnrichmentALK, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, PTCH1, RRAS23.11
75Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS1, PTCH13.11
76Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS1, PTCH13.11
77Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS3.09
78Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, KRAS, MAP2K13.09
79Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS3.09
80Lymphatic malformation 1EnrichmentEPHB4, FLT43.06
81Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT43.06
82Pfeiffer syndromeEnrichmentFGFR1, FGFR23.06
83Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.06
84Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.06
85Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.06
86Angioma, tuftedEnrichmentGNA14, KDR3.06
87Hereditary lymphedema iEnrichmentEPHB4, FLT43.06
88GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA2.99
89Ellis-van creveld syndromeEnrichmentGLI1, PRKACA, PRKACB2.90
90Primary hyperaldosteronismEnrichmentBRAF, CACNA1H, GNAS2.90
91Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS1, PTCH12.89
92Pulmonic stenosisEnrichmentBRAF, SOS12.87
93Hirschsprung disease 1EnrichmentERBB2, ERBB3, IHH, NRG3, SMO2.85
94Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH12.79
95Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR22.75
96AchromatopsiaEnrichmentCNGA3, CNGB3, GNAT22.75
97Kallmann syndromeEnrichmentDCC, FGF17, FGF8, FGFR1, SEMA3A2.73
98Eye diseaseEnrichmentCACNA1F, CACNA2D4, CNGA3, CNGB3, GNAT22.72
99Glycogen storage disease ixdEnrichmentPHKA1, PHKG12.71
100Generalized epilepsy with febrile seizures plus, type 1EnrichmentSCN1A, SCN1B2.71
101Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C2.71
102Tethered spinal cord syndromeEnrichmentBRAF, CREBBP2.71
103Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR22.71
104Melanoma of soft tissueEnrichmentATF1, CREB12.71
105Anastomosing haemangiomaEnrichmentGNA11, GNA142.71
106Hereditary episodic ataxiaEnrichmentCACNA1A, SCN2A2.71
107Fetal akinesia deformation sequence 1EnrichmentMUSK, ROR2, RYR1, SCN4A, SCN5A, SCN8A2.67
108Glycogen storage diseaseEnrichmentGYS1, GYS2, PYGM2.62
109Movement diseaseEnrichmentCLCN6, GNAO1, SCN2A2.62
110Brachydactyly, type a1EnrichmentGDF5, IHH2.60
111Crouzon syndromeEnrichmentFGFR2, FGFR32.60
112Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.60
113Bronchopulmonary dysplasiaEnrichmentMUSK, RYR12.60
114Testicular germ cell cancerEnrichmentFGFR3, KIT2.60
115SpermatocytomaEnrichmentFGFR3, HRAS2.60
116Cone dystrophyEnrichmentCACNA2D4, CNGA3, GNAT2, KCNV22.52
117EpilepsyEnrichmentKCNT1, SCN1A, SCN2A, SCN3A, SCN8A2.46
118Aland island eye diseaseEnrichmentCACNA1F, PHKA22.42
119Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB42.42
120Hyperkalemic periodic paralysisEnrichmentCLCN1, SCN4A2.42
121Developmental and epileptic encephalopathy 12EnrichmentPLCB1, SCN2A2.42
122Achromatopsia 4EnrichmentGNAI3, GNAT22.42
123Developmental and epileptic encephalopathy 52EnrichmentCACNA1A, SCN1B2.42
124Aortic aneurysmEnrichmentSMAD3, TGFBR12.42
125CraniopharyngiomaEnrichmentBRAF, CTNNB12.42
126Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.42
127Malignant hyperthermiaEnrichmentCACNA1S, RYR12.42
128Episodic ataxiaEnrichmentCACNA1A, SCN2A2.42
129Hereditary progressive cardiac conduction defectEnrichmentSCN1B, SCN5A2.42
130Familial or sporadic hemiplegic migraineEnrichmentCACNA1A, SCN1A2.42
131Paroxysmal familial ventricular fibrillationEnrichmentRYR2, SCN5A2.42
132Familial sick sinus syndromeEnrichmentGNB2, SCN5A2.42
133Hypertension, essentialEnrichmentADD1, GNB3, NOS3, RGS52.40
134Bartter syndrome type 4EnrichmentCLCNKA, CLCNKB2.40
135Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS2.34
136MeningiomaEnrichmentPDGFB, SMO, SUFU2.34
137Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R12.33
138MedulloblastomaEnrichmentCTNNB1, PTCH1, PTCH22.30
139Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentPLN, RYR2, TGFB32.30
140Brachydactyly, type a2EnrichmentBMP2, GDF52.30
141Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK2.30
142Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.30
143CholangiocarcinomaEnrichmentPTPN3, ROS12.30
144Multiple synostoses syndromeEnrichmentGDF5, GDF62.30
145Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.30
146Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.30
147GliomaEnrichmentFGFR2, NTRK32.30
148West syndromeEnrichmentGNAO1, PLCB1, SCN1A, SCN2A, SCN8A2.28
149Nk-cell enteropathyEnrichmentAXL, ERBB4, IGF1R2.24
150Myeloma, multipleEnrichmentBRAF, CREBBP, FGFR3, FLT3, KRAS, MST1R2.23
151Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentPDE2A, SCN8A2.20
152Self-limited infantile epilepsyEnrichmentSCN2A, SCN8A2.20
153Arrhythmogenic right ventricular cardiomyopathyEnrichmentRYR1, RYR2, SCN5A2.13
154Bartter syndrome, type 4b, neonatal, with sensorineural deafnessEnrichmentCLCNKA, CLCNKB2.11
155Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB3, KCNV22.10
156Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.09
157Insulin-like growth factor iEnrichmentIGF1, IGF1R2.09
158Ventricular septal defect 1EnrichmentBMP2, BMP72.09
159Pre-eclampsiaEnrichmentFLT1, NOS32.09
160Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.09
161HoloprosencephalyEnrichmentFGF8, FGFR12.09
162Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.09
163Mirror movements 1EnrichmentDCC, NTN12.04
164Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R22.04
165Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R22.04
166Melanoma, uvealEnrichmentGNA11, PLCB42.03
167Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM1, RYR22.03
168Basal cell carcinoma 1EnrichmentPTCH1, PTCH22.03
169Adrenocortical carcinomaEnrichmentCTNNB1, PRKAR1A2.03
170Familial hypertrophic cardiomyopathyEnrichmentMYL2, MYL3, RAF1, TNNI32.01
171Early infantile developmental and epileptic encephalopathyEnrichmentGNAO1, SCN1B, SCN2A1.99
172RhabdomyosarcomaEnrichmentALK, HRAS, PTCH11.97
173Atrial septal defect 1EnrichmentBMP2, TGFB21.92
174Hemihyperplasia, isolatedEnrichmentIGF2, RHOA1.92
175Holoprosencephaly 1EnrichmentFGF8, FGFR11.92
176Hemangioma, capillary infantileEnrichmentFLT4, KDR1.92
17746,xy disorder of sex developmentEnrichmentFGFR3, INSR1.92
178Left ventricular noncompactionEnrichmentRAF1, RYR2, SCN5A, TNNI31.92
179Congenital myopathyEnrichmentCACNA1S, RYR1, SCN4A1.92
180Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR21.92
181Non-immune hydrops fetalisEnrichmentEPHB4, FLT4, HRAS, KRAS1.91
182Focal epilepsyEnrichmentSCN2A, SCN8A1.90
183Familial isolated restrictive cardiomyopathyEnrichmentMYL2, TNNI31.90
184HemimegalencephalyEnrichmentAKT3, MTOR1.83
185Familial cerebral saccular aneurysmEnrichmentANGPTL6, TGFBR31.83
186Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK1.78
187Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA1.78
188Leukemia, chronic myeloidEnrichmentKRAS, NRAS1.78
189Glioma susceptibility 1EnrichmentH3-3A, H3C11.78
190Lennox-gastaut syndromeEnrichmentCACNA1A, SCN1A1.78
191Alternating hemiplegia of childhoodEnrichmentCACNA1A, SCN2A1.78
192Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM1, RYR21.78
193Choreatic diseaseEnrichmentGNAO1, PDE2A1.78
194Dilated cardiomyopathyEnrichmentBRAF, MYL2, PLN, RAF1, SCN5A, TNNI31.77
195Rare genetic intellectual disabilityEnrichmentCREBBP, GNAO1, MTOR1.70
196Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF, TNNI31.68
197Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK, SMAD31.68
198Hydrops fetalisEnrichmentRYR1, RYR31.68
199Breast adenocarcinomaEnrichmentAKT1, KRAS1.67
200Arthrogryposis, distal, type 1aEnrichmentMET, TNNI21.67
201Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB1.67
202Hemochromatosis, type 1EnrichmentBMP2, BMP61.67
203Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, RAF1, TNNI31.64
204Hypertrophic cardiomyopathyEnrichmentMYL2, MYL3, PLN, TNNI31.62
205Developmental and epileptic encephalopathy 1EnrichmentGNAO1, SCN1A, SCN8A1.59
206Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.59
207Osteopetrosis, autosomal dominant 2EnrichmentCLCN71.59
208Hypertension and brachydactyly syndromeEnrichmentPDE3A1.59
209Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.59
210Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.59
211Thyrotoxic periodic paralysis 1EnrichmentCACNA1S1.59
21246,xy sex reversal 7EnrichmentDHH1.59
213Glycogen storage disease viEnrichmentPYGL1.59
214Achromatopsia 2EnrichmentCNGA31.59
215Glycogen storage disease vEnrichmentPYGM1.59
216Curry-jones syndromeEnrichmentSMO1.59
217Noonan syndrome 5EnrichmentRAF11.59
218Cardiomyopathy, dilated, 2aEnrichmentTNNI31.59
219Cone dystrophy with supernormal rod responsesEnrichmentKCNV21.59
220Pseudohypoparathyroidism, type icEnrichmentGNAS1.59
221Epilepsy, idiopathic generalized 9EnrichmentCACNB41.59
222Carney complex, type 1EnrichmentPRKAR1A1.59
223Brugada syndrome 4EnrichmentCACNB21.59
224Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL31.59
225Schilbach-rott syndromeEnrichmentPTCH11.59
226Scalp-ear-nipple syndromeEnrichmentKCTD11.59
227Brugada syndrome 5EnrichmentSCN1B1.59
228Melorheostosis, isolatedEnrichmentMAP2K11.59
229Osseous heteroplasia, progressiveEnrichmentGNAS1.59
230Cardiomyopathy, familial hypertrophic, 7EnrichmentTNNI31.59
231Noonan syndrome 7EnrichmentBRAF1.59
232Leopard syndrome 3EnrichmentBRAF1.59
233Glycogen storage disease ixcEnrichmentPHKG21.59
234Bronchiectasis with or without elevated sweat chloride 2EnrichmentSCNN1A1.59
235Bronchiectasis with or without elevated sweat chloride 3EnrichmentSCNN1G1.59
236Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.59
237Long qt syndrome 10EnrichmentSCN4B1.59
238Polydactyly, preaxial iEnrichmentGLI11.59
239Cardiomyopathy, dilated, 1nnEnrichmentRAF11.59
240Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.59
241Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.59
242Episodic pain syndrome, familial, 3EnrichmentSCN11A1.59
243Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.59
244Developmental and epileptic encephalopathy 11EnrichmentSCN2A1.59
245Fetal encasement syndromeEnrichmentCHUK1.59
246Neuropathy, hereditary sensory and autonomic, type viiEnrichmentSCN11A1.59
247Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.59
248Deafness, autosomal recessive 44EnrichmentADCY11.59
249Episodic ataxia, type 5EnrichmentCACNB41.59
250Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.59
251Ventricular tachycardia, familialEnrichmentGNAI21.59
252Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.59
253Atrial fibrillation, familial, 14EnrichmentSCN2B1.59
254Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.59
255Neurodevelopmental disorder with seizures and brain abnormalitiesEnrichmentCLCN31.59
256Noonan syndrome 13EnrichmentMAPK11.59
257Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.59
258Deafness, autosomal recessive 103EnrichmentCLIC51.59
259Pseudohypoaldosteronism, type ib2, autosomal recessiveEnrichmentSCNN1B1.59
260Congenital myopathy 20EnrichmentRYR31.59
261Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.59
262Polydactyly, postaxial, type a8EnrichmentGLI11.59
263Pituitary adenoma 3, multiple typesEnrichmentGNAS1.59
264Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.59
265Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I1.59
266Liddle syndrome 2EnrichmentSCNN1G1.59
267Congenital myopathy 18EnrichmentCACNA1S1.59
268Hypopigmentation, organomegaly, and delayed myelination and developmentEnrichmentCLCN71.59
269Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.59
270Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.59
271Myoclonus, familial, 2EnrichmentSCN8A1.59
272Spermatogenic failure 79EnrichmentKCNU11.59
273Raynaud-claes syndromeEnrichmentCLCN41.59
274Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.59
275Developmental and epileptic encephalopathy 62EnrichmentSCN3A1.59
276Liddle syndrome 3EnrichmentSCNN1A1.59
277Mirror movements 4EnrichmentNTN11.59
278Auriculocondylar syndrome 2aEnrichmentPLCB41.59
279Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F1.59
280Retinal cone dystrophy 4EnrichmentCACNA2D41.59
281Cardioacrofacial dysplasia 2EnrichmentPRKACB1.59
282Intellectual developmental disorder with paroxysmal dyskinesia or seizuresEnrichmentPDE2A1.59
283Atrial fibrillation, familial, 13EnrichmentSCN1B1.59
284Cerebral palsy, spastic quadriplegic, 3EnrichmentADD31.59
285Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.59
286Myxoma, intracardiacEnrichmentPRKAR1A1.59
287Atrial fibrillation, familial, 18EnrichmentMYL41.59
288Developmental and epileptic encephalopathy 17EnrichmentGNAO11.59
289Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D1.59
290Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.59
291LymphangiomaEnrichmentBRAF1.59
292Long qt syndrome 11EnrichmentAKAP91.59
293Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.59
294Brugada syndrome 3EnrichmentCACNA1C1.59
295Epilepsy, childhood absence 6EnrichmentCACNA1H1.59
296Camurati-engelmann disease 2EnrichmentTGFB21.59
297Rahman syndromeEnrichmentH1-41.59
298Malignant hyperthermia 5EnrichmentCACNA1S1.59
299Acrocapitofemoral dysplasiaEnrichmentIHH1.59
300Phace associationEnrichmentBRAF1.59
301Spinocerebellar ataxia 14EnrichmentPRKCG1.59
302MelorheostosisEnrichmentMAP2K11.59
303Epilepsy, idiopathic generalized 11EnrichmentCLCN21.59
304Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.59
305Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.59
306Episodic ataxia, type 9EnrichmentSCN2A1.59
307Leopard syndrome 2EnrichmentRAF11.59
308Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG21.59
309Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D1.59
310Episodic pain syndrome, familial, 2EnrichmentSCN10A1.59
311Dystonia 25EnrichmentGNAL1.59
312Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.59
313Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.59
314Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.59
315Night blindness, congenital stationary, type 1gEnrichmentGNAT11.59
316Long qt syndrome 16EnrichmentCALM31.59
317Hypocalcemia, autosomal dominant 2EnrichmentGNA111.59
318Pulmonary hypertension, primary, 4EnrichmentKCNK31.59
319Benign familial infantile epilepsyEnrichmentSCN2A1.59
320Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.59
321Brugada syndrome 7EnrichmentSCN3B1.59
322Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.59
323Immunodeficiency 105, severe combinedEnrichmentPTPRC1.59
324Spinocerebellar ataxia 42EnrichmentCACNA1G1.59
325Developmental and epileptic encephalopathy 110EnrichmentCACNA2D11.59
326Disorders of gnas inactivationEnrichmentGNAS1.59
327Retinitis pigmentosa 45EnrichmentCNGB11.59
328Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.59
329Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.59
330Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.59
331Epilepsy, familial focal, with variable foci 4EnrichmentSCN3A1.59
332Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G1.59
333Loeys-dietz syndrome 5EnrichmentTGFB31.59
334Cardioacrofacial dysplasia 1EnrichmentPRKACA1.59
335Developmental and epileptic encephalopathy 69EnrichmentCACNA1E1.59
336Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.59
337Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.59
338Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.59
339Hyperaldosteronism, familial, type ivEnrichmentCACNA1H1.59
340Deafness, autosomal dominant 74EnrichmentPDE1C1.59
341Bartsocas-papas syndrome 2EnrichmentCHUK1.59
342Sick sinus syndrome 4EnrichmentGNB21.59
343Menke-hennekam syndrome 1EnrichmentCREBBP1.59
344Congenital myopathy 14EnrichmentMYL11.59
345Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.59
346Cd45 deficiencyEnrichmentPTPRC1.59
347Developmental and epileptic encephalopathy 57EnrichmentKCNT21.59
348Ceroid lipofuscinosis, neuronal, 15EnrichmentCLCN61.59
349Muscular channelopathyEnrichmentSCN4A1.59
350TrigonitisEnrichmentRAF11.59
351Neurodevelopmental disorder with hypotonia and brain abnormalitiesEnrichmentCLCN31.59
352Auriculocondylar syndrome 2bEnrichmentPLCB41.59
353Congenital myopathy with myasthenic-like onsetEnrichmentRYR11.59
354Pseudohypoaldosteronism, type ib3, autosomal recessiveEnrichmentSCNN1G1.59
355Adenoid ameloblastomaEnrichmentCTNNB11.59
356Long qt syndrome 15EnrichmentCALM21.59
357Spermatogenic failure 82EnrichmentAKAP31.59
358Heritable thoracic aortic diseaseEnrichmentSMAD41.59
359Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.59
360Progressive myoclonus epilepsy 3EnrichmentKCTD71.59
361Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.59
362Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.59
363Conn's syndromeEnrichmentCACNA1H1.59
364Turner syndromeEnrichmentPTCH11.59
365X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeEnrichmentCLIC21.59
366Sporadic hemiplegic migraineEnrichmentCACNA1A1.59
367Syringocystadenoma papilliferumEnrichmentBRAF1.59
368Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.59
369Atypical timothy syndromeEnrichmentCACNA1C1.59
370Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D1.59
371Menke-hennekam syndromeEnrichmentCREBBP1.59
372GangliogliomaEnrichmentBRAF1.59
373Nongerminomatous germ cell tumorEnrichmentBRAF1.59
374Monostotic fibrous dysplasiaEnrichmentGNAS1.59
375Monosomy 9q22.3EnrichmentPTCH11.59
376Phace syndromeEnrichmentBRAF1.59
377Timothy syndrome type 2EnrichmentCACNA1C1.59
378Gnao1-related disorderEnrichmentGNAO11.59
379Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S1.59
380Classic hairy cell leukemiaEnrichmentBRAF1.59
381Phakomatosis cesiomarmorataEnrichmentGNA111.59
382Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.59
383Kaposiform hemangioendotheliomaEnrichmentGNA141.59
384Mazabraud syndromeEnrichmentGNAS1.59
385Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyEnrichmentRYR11.59
386Timothy syndrome type 1EnrichmentCACNA1C1.59
387Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.59
388Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT51.59
389Cone dystrophy with supernormal rod responseEnrichmentKCNV21.59
390Microcystic stromal tumorEnrichmentCTNNB11.59
391Cacna1c-related disordersEnrichmentCACNA1C1.59
392Benign paroxysmal torticollis of infancyEnrichmentCACNA1A1.59
393Benign samaritan congenital myopathyEnrichmentRYR11.59
394Stroke, ischemicEnrichmentNOS3, PRKCH1.59
395Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.57
396Ventricular septal defectEnrichmentBRAF, TEK1.57
397Renal cell carcinoma, papillary, 1EnrichmentMET, MTOR1.53
398Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, PTPN21.53
399Overgrowth syndromeEnrichmentMTOR, PIK3R11.53
400Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, PTPN21.53
401Leukemia, acute myeloidEnrichmentFLT3, KIT, KRAS, NRAS1.53
402Primary ovarian insufficiencyEnrichmentBMP6, KDR, NOS3, NTRK1, RYR31.53
403Lymphatic malformation 5EnrichmentEPHB41.53
404Brachydactyly, type b1EnrichmentROR21.53
405Erythroleukemia, familialEnrichmentERBB31.53
406HypochondroplasiaEnrichmentFGFR31.53
407Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.53
408Paget disease, extramammaryEnrichmentERBB21.53
409Osteoglophonic dysplasiaEnrichmentFGFR11.53
410Thanatophoric dysplasia, type iEnrichmentFGFR31.53
411Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.53
412Trigonocephaly 1EnrichmentFGFR11.53
413Donohue syndromeEnrichmentINSR1.53
414Spinocerebellar ataxia 27aEnrichmentFGF141.53
415Oculoectodermal syndromeEnrichmentKRAS1.53
416Muenke syndromeEnrichmentFGFR31.53
417Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.53
418Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.53
419Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.53
420Glaucoma 3, primary congenital, dEnrichmentLTBP21.53
421Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.53
422Microphthalmia, isolated 4EnrichmentGDF61.53
423Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.53
424Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.53
425Deafness, autosomal recessive 39EnrichmentHGF1.53
426Mastocytosis, cutaneousEnrichmentKIT1.53
427Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.53
428Resting heart rate, variation inEnrichmentADRB11.53
429Apert syndromeEnrichmentFGFR21.53
430Neuroblastoma 3EnrichmentALK1.53
431Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.53
432Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.53
433Myofibromatosis, infantile, 1EnrichmentPDGFRB1.53
434Melanosis, neurocutaneousEnrichmentNRAS1.53
435Thanatophoric dysplasia, type iiEnrichmentFGFR31.53
436Lethal congenital contracture syndrome 2EnrichmentERBB31.53
437Noonan syndrome 6EnrichmentNRAS1.53
438Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.53
439Ciliary dyskinesia, primary, 33EnrichmentDRC41.53
440Gist-plus syndromeEnrichmentPDGFRA1.53
441Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.53
442Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.53
443Aplasia of lacrimal and salivary glandsEnrichmentFGF101.53
444Bent bone dysplasia syndrome 1EnrichmentFGFR21.53
445Weill-marchesani syndrome 3EnrichmentLTBP21.53
446Noonan syndrome 11EnrichmentMRAS1.53
447Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.53
448Deafness, autosomal recessive 108EnrichmentROR11.53
449Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.53
450Developmental and epileptic encephalopathy 58EnrichmentNTRK21.53
451Multiple synostoses syndrome 4EnrichmentGDF61.53
452Intellectual developmental disorder, x-linked 110EnrichmentFGF131.53
453Joubert syndrome 32EnrichmentSUFU1.53
454Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.53
455Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.53
456Hyperemesis gravidarumEnrichmentGDF151.53
457Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.53
458Deafness, autosomal recessive 125EnrichmentGAS21.53
459Hereditary lymphedema idEnrichmentVEGFC1.53
460Osteofibrous dysplasiaEnrichmentMET1.53
461Microphthalmia, syndromic 6EnrichmentBMP41.53
462Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.53
463Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.53
464Developmental and epileptic encephalopathy 90EnrichmentFGF131.53
465Orofacial cleft 11EnrichmentBMP41.53
466Metacarpal 4-5 fusionEnrichmentFGF161.53
467Lymphatic malformation 4EnrichmentVEGFC1.53
468Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC71.53
469Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.53
470Familial isolated trichomegalyEnrichmentFGF51.53
471Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.53
472Deafness, autosomal recessive 97EnrichmentMET1.53
473Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.53
474Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.53
475Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.53
476Geleophysic dysplasia 3EnrichmentLTBP31.53
477Rothmund-thomson syndrome, type 1EnrichmentANAPC11.53
478Autism 9EnrichmentMET1.53
479Glaucoma 1, open angle, oEnrichmentNTF41.53
480Iron overloadEnrichmentBMP61.53
481Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.53
482Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.53
483Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.53
484Leber congenital amaurosis 17EnrichmentGDF61.53
485Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.53
486Amyotrophic lateral sclerosis 19EnrichmentERBB41.53
487Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.53
488Nasopharyngeal carcinoma 3EnrichmentMST1R1.53
489Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.53
490Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.53
491Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.53
492Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.53
493Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.53
494Kosaki overgrowth syndromeEnrichmentPDGFRB1.53
495Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.53
496Hartsfield syndromeEnrichmentFGFR11.53
497Congenital heart defects, multiple types, 7EnrichmentFLT41.53
498Renal hypodysplasia/aplasia 2EnrichmentFGF201.53
499Bleeding disorder, platelet-type, 22EnrichmentEPHB21.53
50020p12.3 microdeletion syndromeEnrichmentBMP21.53
501Mahvash diseaseEnrichmentGCGR1.53
502Thrombocytopenia 6EnrichmentSRC1.53
503Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.53
504Glaucoma 3, primary congenital, eEnrichmentTEK1.53
505Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.53
506Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.53
507Short sleep, familial natural, 2EnrichmentADRB11.53
508Developmental and epileptic encephalopathy 47EnrichmentFGF121.53
509Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.53
510Chronic mast cell leukemiaEnrichmentKIT1.53
511Premature ovarian failure 14EnrichmentGDF91.53
512Ciliary dyskinesia, primary, 46EnrichmentSTK361.53
513Warburg-cinotti syndromeEnrichmentDDR21.53
514Tufted angioma of skinEnrichmentKDR1.53
515Deafness, autosomal dominant 69EnrichmentKITLG1.53
516Thrombocytopenia 9EnrichmentTHPO1.53
517Arthrogryposis, distal, type 11EnrichmentMET1.53
518Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.53
519Csf1r-related disorderEnrichmentCSF1R1.53
520Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.53
521Lipodystrophy, familial partial, type 8EnrichmentADRA2A1.53
522Bockenheimer syndromeEnrichmentTEK1.53
523Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.53
524Isolated bone marrow mastocytosisEnrichmentKIT1.53
525Congenital pulmonary airway malformationEnrichmentKRAS1.53
526Smoldering systemic mastocytosisEnrichmentKIT1.53
527Alk-positive anaplastic large cell lymphomaEnrichmentALK1.53
528Spinocerebellar ataxia type 27bEnrichmentFGF141.53
529Fgfr3-related chondrodysplasiaEnrichmentFGFR31.53
530MastocytosisEnrichmentKIT1.53
531Congenital primary lymphedema of gordonEnrichmentVEGFC1.53
532Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.53
533Familial progressive hyperpigmentationEnrichmentKITLG1.53
534Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.53
535Cutaneous mastocytomaEnrichmentKIT1.53
536Typical urticaria pigmentosaEnrichmentKIT1.53
537Phakomatosis pigmentokeratoticaEnrichmentHRAS1.53
538Nodular urticaria pigmentosaEnrichmentKIT1.53
539Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.53
540Alk-positive large b-cell lymphomaEnrichmentALK1.53
541Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.53
542Telangiectasia macularis eruptiva perstansEnrichmentKIT1.53
543Acute mast cell leukemiaEnrichmentKIT1.53
544Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.53
545Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.53
546Plaque-form urticaria pigmentosaEnrichmentKIT1.53
547Interstitial lung disease specific to childhoodEnrichmentFGF101.53
548Serous carcinoma of the corpus uteriEnrichmentERBB21.53
549Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.53
550Neurocutaneous melanocytosisEnrichmentNRAS1.53
551Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.53
552Vein of galen aneurysmal malformationEnrichmentEPHB41.53
553Testis seminomaEnrichmentKIT1.53
554Migraine with or without aura 1EnrichmentCACNA1A, CLCN11.51
555Epilepsy, myoclonic juvenileEnrichmentCACNB4, CLCN21.51
556Specific learning disabilityEnrichmentMAPK1, YWHAG1.51
557Type 2 diabetes mellitusEnrichmentIL6, INSR, PPP1R3A, PTPN11.47
558Body mass index quantitative trait locus 11EnrichmentADCY3, ADRB3, BDNF, GNAS, SCN1A1.44
559Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentRYR2, TGFB31.43
560Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentRYR2, TGFB31.43
561Congenital long qt syndromeEnrichmentITPR3, SCN5A1.43
562Hypomagnesemia 4, renalEnrichmentEGF1.43
563Noonan syndrome 4EnrichmentSOS11.43
564Noonan syndrome 9EnrichmentSOS21.43
565Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.43
566Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.43
567Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.43
568Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.43
569Idiopathic hypercalciuriaEnrichmentADCY101.43
570Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.43
571Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR1.40
572Hydrops fetalis, nonimmuneEnrichmentEPHB4, FLT4, HRAS1.40
573Meningioma, familialEnrichmentPDGFB, SUFU1.40
574Leukemia, acute lymphoblasticEnrichmentFLT3, GNB11.40
575Proteus syndromeEnrichmentAKT11.40
576Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.40
577Type 1 diabetes mellitus 10EnrichmentIL2RA1.40
578Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.40
579Fleck retina, familial benignEnrichmentPLA2G51.40
580Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.40
581Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.40
582Short syndromeEnrichmentPIK3R11.40
583Prolonged electroretinal response suppression 1EnrichmentRGS91.40
584Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.40
585Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.40
586Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.40
587Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.40
588Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.40
589Cowden syndrome 6EnrichmentAKT11.40
590Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.40
591Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G71.40
592Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.40
593Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual developmentEnrichmentDCC1.40
594Capillary hemangiomaEnrichmentAKT31.40
595Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.40
596Familial benign flecked retinaEnrichmentPLA2G51.40
597Akt2-related familial partial lipodystrophyEnrichmentAKT21.40
598Inherited cancer-predisposing syndromeEnrichmentALK, EGFR, KIT, MET, PDGFRA, PRKAR1A, PTCH1, SUFU1.39
599Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.33
600Spastic ataxiaEnrichmentCACNA1G, CACNB4, ITPR1, SCN2A1.33
601Familial isolated dilated cardiomyopathyEnrichmentPLN, RAF1, SCN5A, TNNI31.33
602Aortic aneurysm, familial thoracic 1EnrichmentMYLK, SMAD31.31
603Heart diseaseEnrichmentCREBBP, MYL21.31
604Spinocerebellar ataxia 29EnrichmentITPR11.29
605Malignant hyperthermia 1EnrichmentRYR11.29
606Atrial standstill 1EnrichmentSCN5A1.29
607Progressive familial heart block, type iaEnrichmentSCN5A1.29
608Paramyotonia congenitaEnrichmentSCN4A1.29
609Cardiomyopathy, familial restrictive, 1EnrichmentTNNI31.29
610Pseudohypoparathyroidism, type iaEnrichmentGNAS1.29
611Myhre syndromeEnrichmentSMAD41.29
612Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndromeEnrichmentRYR21.29
613Camurati-engelmann disease 1EnrichmentTGFB11.29
614Pallister-hall-like syndromeEnrichmentSMO1.29
615Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.29
616Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.29
617Glycogen storage disease 0, liverEnrichmentGYS21.29
618Cutis marmorata telangiectatica congenitaEnrichmentGNA111.29
619Thumb deformityEnrichmentCREBBP1.29
620Indifference to pain, congenital, autosomal recessiveEnrichmentSCN9A1.29
621Glycogen storage disease ixa1EnrichmentPHKA21.29
622Dent disease 1EnrichmentCLCN51.29
623Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.29
624Polymyoclonus, infantileEnrichmentSCNN1B1.29
625Timothy syndromeEnrichmentCACNA1C1.29
626Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.29
627Hyperaldosteronism, familial, type iiEnrichmentCLCN21.29
628Osteopetrosis, autosomal recessive 4EnrichmentCLCN71.29
629Nephrolithiasis, x-linked recessive, with renal failureEnrichmentCLCN51.29
63046,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH1.29
631Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B1.29
632Histiocytoma, angiomatoid fibrousEnrichmentCREB11.29
633Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.29
634PseudopseudohypoparathyroidismEnrichmentGNAS1.29
635Seizures, benign familial infantile, 3EnrichmentSCN2A1.29
636Sick sinus syndrome 1EnrichmentSCN5A1.29
637Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.29
638Myotonia, potassium-aggravatedEnrichmentSCN4A1.29
639Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.29
640Microvascular complications of diabetes 5EnrichmentTGFBR21.29
641Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.29
642Cardiomyopathy, dilated, 1pEnrichmentPLN1.29
643Segawa syndrome, autosomal recessiveEnrichmentTH1.29
644Birk-barel syndromeEnrichmentKCNK91.29
645Lethal congenital contracture syndrome 8EnrichmentADCY61.29
646Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.29
647Cardiomyopathy, familial hypertrophic, 25EnrichmentTNNI31.29
648Atrial fibrillation, familial, 10EnrichmentSCN5A1.29
649Night blindness, congenital stationary, type 1hEnrichmentGNB31.29
650Spermatogenic failure 17EnrichmentPLCZ11.29
651Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.29
652Migraine, familial hemiplegic, 3EnrichmentSCN1A1.29
653Cardiomyopathy, familial hypertrophic, 18EnrichmentPLN1.29
654Cognitive impairment with or without cerebellar ataxiaEnrichmentSCN8A1.29
655Cardiomyopathy, dilated, 1ffEnrichmentTNNI31.29
656Long qt syndrome 14EnrichmentCALM11.29
657Oguchi disease 2EnrichmentGRK11.29
658Loeys-dietz syndrome 3EnrichmentSMAD31.29
659Epilepsy, nocturnal frontal lobe, 5EnrichmentKCNT11.29
660Leukoencephalopathy with ataxiaEnrichmentCLCN21.29
661Long qt syndrome 3EnrichmentSCN5A1.29
662Developmental and epileptic encephalopathy 15EnrichmentKCNT11.29
663Long qt syndrome 8EnrichmentCACNA1C1.29
664Developmental and epileptic encephalopathy 6bEnrichmentSCN1A1.29
665Sinoatrial node diseaseEnrichmentSCN5A1.29
666Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.29
667Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.29
668Osteogenesis imperfecta, type xxiEnrichmentKDELR21.29
669Hypophosphatemic rickets, x-linked recessiveEnrichmentCLCN51.29
670Dystonia 30EnrichmentPTPRA1.29
671Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeEnrichmentKCNK41.29
672Congenital myopathy 22a, classicEnrichmentSCN4A1.29
673Congenital myopathy 22b, severe fetalEnrichmentSCN4A1.29
674Usher syndrome, type ivEnrichmentPRKAR1A1.29
675Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.29
676Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisEnrichmentCLCN51.29
677Retinitis pigmentosa 49EnrichmentCNGA11.29
678Myasthenic syndrome, congenital, 16EnrichmentSCN4A1.29
679Childhood hepatocellular carcinomaEnrichmentCTNNB11.29
680Glycogen storage disease 0, muscleEnrichmentGYS11.29
681Ventricular tachycardia, catecholaminergic polymorphic, 2EnrichmentRYR21.29
682Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.29
683Autosomal dominant hypocalcemiaEnrichmentGNA111.29
684Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL21.29
685King-denborough syndromeEnrichmentRYR11.29
686AcrodysostosisEnrichmentPRKAR1A1.29
687Benign familial neonatal epilepsyEnrichmentSCN2A1.29
688PseudohypoparathyroidismEnrichmentGNAS1.29
689Camurati-engelmann diseaseEnrichmentTGFB11.29
690Developmental and epileptic encephalopathy 30EnrichmentSCN2A1.29
691Body mass index quantitative trait locus 19EnrichmentADCY31.29
692Neurogenic bladderEnrichmentCLCN61.29
693Immunodeficiency 104, severe combinedEnrichmentPTPRC1.29
694Respiratory system diseaseEnrichmentCLCN61.29
695Fibrolamellar carcinomaEnrichmentPRKACA1.29
696Ocular melanomaEnrichmentPLCB41.29
697Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.29
698Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.29
699Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL21.29
700HypopituitarismEnrichmentGNAI21.29
701Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.29
702Epilepsy, progressive myoclonic, 3, with or without intracellular inclusionsEnrichmentKCTD71.29
703Hypokalemic periodic paralysis, type 2EnrichmentSCN4A1.29
704Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.29
705Scn1a seizure disordersEnrichmentSCN1A1.29
706Seizures, benign familial infantile, 5EnrichmentSCN8A1.29
707Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.29
708Arthrogryposis, distal, type 1cEnrichmentMYL111.29
709Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.29
710Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS21.29
711Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.29
712Exercise-induced malignant hyperthermiaEnrichmentRYR11.29
713Developmental and epileptic encephalopathy 76EnrichmentSCN1A1.29
714Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.29
715Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.29
716Clcn2-related leukoencephalopathyEnrichmentCLCN21.29
717Postaxial polydactyly type bEnrichmentGLI11.29
718Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.29
719Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.29
720Small fiber neuropathyEnrichmentSCN9A1.29
721Benign neonatal seizuresEnrichmentSCN2A1.29
722Isolated atrial standstillEnrichmentSCN5A1.29
723Oguchi diseaseEnrichmentGRK11.29
724Glycogen storage disease viiiEnrichmentPHKA21.29
725TeratomaEnrichmentCTNNB11.29
726OsteosclerosisEnrichmentCLCN71.29
727Common variable immunodeficiency 12EnrichmentNFKB11.29
728Commissural facial cleftEnrichmentPTCH21.29
729PseudohypoaldosteronismEnrichmentSCNN1A1.29
730Tafro syndromeEnrichmentMAP2K21.29
731Progressive bulbar palsyEnrichmentCACNA1A1.29
732Cerebral visual impairmentEnrichmentGNB11.29
733Phakomatosis cesioflammeaEnrichmentGNA111.29
734Polydactyly, postaxial, type a1EnrichmentGLI1, PTCH11.26
735Congenital myopathy 4a, autosomal dominantEnrichmentMYL2, RYR11.26
736Congenital nervous system abnormalityEnrichmentCACNA1A, CREBBP, CTNNB1, GNAO1, GNB5, KCNV21.25
737Nervous system diseaseEnrichmentCACNA1A, CREBBP, CTNNB1, GNAO1, GNB5, KCNV21.25
738Acromicric dysplasiaEnrichmentLTBP31.24
739Cri-du-chat syndromeEnrichmentSEMA5A1.24
740Blue rubber bleb nevusEnrichmentTEK1.24
741Sorsby fundus dystrophyEnrichmentTIMP31.24
742Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.24
743Costello syndromeEnrichmentHRAS1.24
744Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.24
745TrichomegalyEnrichmentFGF51.24
746Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.24
747Kyphomelic dysplasiaEnrichmentCCN21.24
748Omodysplasia 1EnrichmentGPC61.24
749Pulmonary hypoplasia, primaryEnrichmentFGF101.24
750Dermatofibrosarcoma protuberansEnrichmentPDGFB1.24
751Cervical cancerEnrichmentFGFR31.24
752Parkinson disease 8, autosomal dominantEnrichmentGDF61.24
753Piebald traitEnrichmentKIT1.24
754Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.24
755Aural atresia, congenitalEnrichmentFGFR21.24
756Keratosis, seborrheicEnrichmentFGFR31.24
757Multiple synostoses syndrome 2EnrichmentGDF51.24
758Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.24
759Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.24
760Silver-russell syndrome 3EnrichmentIGF21.24
761Osteogenesis imperfecta, type xiiiEnrichmentBMP11.24
762Brachydactyly, type a1, cEnrichmentGDF51.24
763Symphalangism, proximal, 1bEnrichmentGDF51.24
764Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.24
765Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.24
766Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.24
767Waardenburg syndrome, type 2fEnrichmentKITLG1.24
768Lymphatic malformation 11EnrichmentTIE11.24
769Noonan syndrome 12EnrichmentRRAS21.24
770Kowarski syndromeEnrichmentGH11.24
771Infantile myofibromatosisEnrichmentPDGFRB1.24
772Split hand-foot malformationEnrichmentFGFR21.24
773Rosette-forming glioneuronal tumorEnrichmentFGFR11.24
774Papillary renal cell carcinomaEnrichmentMET1.24
775Congenital mesoblastic nephromaEnrichmentNTRK31.24
776Congenital fibrosarcomaEnrichmentSUFU1.24
777Microphthalmia/coloboma 6EnrichmentGDF61.24
778Cervix carcinomaEnrichmentFGFR31.24
779FibrosarcomaEnrichmentNTRK31.24
780Retinitis pigmentosa 38EnrichmentMERTK1.24
781Proximal symphalangismEnrichmentGDF51.24
782Craniosynostosis 7EnrichmentBMP21.24
783Acute myeloid leukemia without maturationEnrichmentFLT31.24
784Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.24
785Interfrontal craniofaciosynostosisEnrichmentFGFR11.24
786Basal cell nevus syndrome 2EnrichmentSUFU1.24
787Short stature due to growth hormone qualitative anomalyEnrichmentGH11.24
788Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.24
789Chronic eosinophilic leukemiaEnrichmentPDGFRA1.24
790Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.24
791B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.24
792Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.24
793B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.24
794Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.24
795Wooly hair nevusEnrichmentHRAS1.24
796Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.24
797PolymicrogyriaEnrichmentAKT3, SCN3A1.24
798Heritable pulmonary arterial hypertensionEnrichmentGDF2, KCNK31.22
799DystoniaEnrichmentGNAL, GNB1, TH1.22
800Cleft lip/palateEnrichmentBMP4, PDGFRA1.21
801Cardiomyopathy, dilated, 1eEnrichmentMYL2, SCN5A1.16
802Postsynaptic congenital myasthenic syndromesEnrichmentMUSK, SCN4A1.15
803Wilms tumor 1EnrichmentBRAF, IGF21.15
804HydrocephalusEnrichmentFGFR2, PDGFRB1.15
805Fibromatosis, gingival, 1EnrichmentSOS11.14
806Hypercalciuria, absorptive, 2EnrichmentADCY101.14
807Bartter syndrome, type 3EnrichmentCLCNKB1.14
808Desmoid disease, hereditaryEnrichmentCTNNB11.12
809Mccune-albright syndromeEnrichmentGNAS1.12
810Dystonia 12EnrichmentSCN2A1.12
811Van der woude syndrome 1EnrichmentCACNA1E1.12
812Dystonia, dopa-responsiveEnrichmentTH1.12
813Myotonia congenita, autosomal dominantEnrichmentCLCN11.12
814Ataxia-telangiectasiaEnrichmentBRAF1.12
815Juvenile polyposis syndromeEnrichmentSMAD41.12
816Myotonia congenita, autosomal recessiveEnrichmentCLCN11.12
817Gillespie syndromeEnrichmentITPR11.12
818Glycogen storage disease ixbEnrichmentPHKB1.12
819Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B1.12
820Epilepsy, nocturnal frontal lobe, 1EnrichmentKCNT11.12
821Nasopharyngeal carcinomaEnrichmentNFKBIA1.12
822Nephrotic syndrome, type 3EnrichmentPLCE11.12
823Generalized epilepsy with febrile seizures plus, type 2EnrichmentSCN1A1.12
824Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.12
825Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.12
826Holoprosencephaly 7EnrichmentPTCH11.12
827Lipodystrophy, familial partial, type 6EnrichmentLIPE1.12
828Developmental and epileptic encephalopathy 13EnrichmentSCN8A1.12
829Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.12
830Generalized epilepsy with febrile seizures plus, type 7EnrichmentSCN9A1.12
831Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.12
832Lynch syndrome 5EnrichmentRYR11.12
833Anus, imperforateEnrichmentCTNNB11.12
834Tremor, hereditary essential, 6EnrichmentSCN4A1.12
835Exudative vitreoretinopathy 7EnrichmentCTNNB11.12
836Dent diseaseEnrichmentCLCN51.12
837Desmoid tumorEnrichmentCTNNB11.12
838Osteopetrosis, autosomal recessive 6EnrichmentCLCN71.12
839Intrinsic cardiomyopathyEnrichmentPLN1.12
840Ciliary dyskinesia, primary, 28EnrichmentKCNT11.12
841Gingival overgrowthEnrichmentKCNK41.12
842Intraocular pressure quantitative trait locusEnrichmentCREBBP1.12
843Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.12
844Thyrotoxic periodic paralysisEnrichmentCACNA1S1.12
845Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.12
846Scoliosis, isolated 1EnrichmentMAPK71.11
847Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.11
848Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.11
849Cebalid syndromeEnrichmentMTOR1.11
850Senior-loken syndrome 7EnrichmentAKT31.11
851Bardet-biedl syndrome 16EnrichmentAKT31.11
852BradyopsiaEnrichmentRGS91.11
853Smith-kingsmore syndromeEnrichmentMTOR1.11
854Horizontal gaze palsy with progressive scoliosisEnrichmentDCC1.11
855Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.11
856Pulmonary hypertension, primary, 1EnrichmentGDF2, KCNK31.09
857MyopathyEnrichmentCLCN1, RYR1, SCN4A1.08
858Diffuse large b-cell lymphomaEnrichmentBRAF, CREBBP1.07
859AchondroplasiaEnrichmentFGFR31.07
860Brachydactyly, type cEnrichmentGDF51.07
861Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.07
862Larsen syndromeEnrichmentFGFR31.07
863Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.07
864Thyroid carcinoma, familial medullaryEnrichmentNTRK11.07
865Exfoliation syndromeEnrichmentLTBP21.07
866Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.07
867Acromesomelic dysplasia 2aEnrichmentGDF51.07
868Thrombocythemia 1EnrichmentTHPO1.07
869Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.07
870Acromesomelic dysplasia 2cEnrichmentGDF51.07
871Acromesomelic dysplasia 2bEnrichmentGDF51.07
872Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.07
873Stuve-wiedemann syndrome 1EnrichmentLIFR1.07
874Muscular dystrophy, duchenne typeEnrichmentLTBP41.07
875Transposition of the great arteries, dextro-loopedEnrichmentBMP21.07
876Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.07
877Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.07
878Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.07
879Weill-marchesani syndrome 1EnrichmentLTBP21.07
880Primary polycythemiaEnrichmentEPOR1.07
881Autosomal recessive cutis laxa type iEnrichmentLTBP11.07
882Isolated growth hormone deficiency, type ibEnrichmentGH11.07
883HamartomaEnrichmentFGFR31.07
884Lymphatic malformation 7EnrichmentEPHB41.07
885Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.07
886Desmoplastic/nodular medulloblastomaEnrichmentSUFU1.07
887Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.07
888High bone mass osteogenesis imperfectaEnrichmentBMP11.07
889Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.07
890Mixed phenotype acute leukemia with tEnrichmentFLT31.07
891Geleophysic dysplasiaEnrichmentLTBP31.07
892Renal cell carcinomaEnrichmentMET1.07
893Stüve-wiedemann syndromeEnrichmentLIFR1.07
894Testicular cancerEnrichmentFGFR31.07
895Isolated klippel-feil syndromeEnrichmentGDF61.07
896Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.07
897Mpv17-related mitochondrial dna maintenance defectEnrichmentUCN1.07
898Alzheimer disease, familial, 1EnrichmentCSF1R, NOS31.06
899Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.06
900Beckwith-wiedemann syndromeEnrichmentIGF2, RYR11.01
901MicrocephalyEnrichmentCTNNB1, GNAO1, GNB1, MAPK1, SCN1A, YWHAG1.01
902Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.00
903Chorea, benign hereditaryEnrichmentADCY51.00
904Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentRYR11.00
905Polydactyly, preaxial iiEnrichmentPTCH11.00
906Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYLK1.00
907Spinocerebellar ataxia 6EnrichmentCACNA1A1.00
908Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentSCN9A1.00
909Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.00
910Myopathy, centronuclear, 2EnrichmentRYR11.00
911Sacral defect with anterior meningoceleEnrichmentRYR11.00
912Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.00
913Pseudohypoparathyroidism, type ibEnrichmentGNAS1.00
914Hypophosphatemic rickets, x-linked dominantEnrichmentCLCN51.00
915Amyotrophy, monomelicEnrichmentRYR31.00
916Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.00
917Smith-lemli-opitz syndromeEnrichmentCLCN11.00
918Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.00
919Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.00
920Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.00
921PilomatrixomaEnrichmentCTNNB11.00
922Carney complex variantEnrichmentPRKAR1A1.00
923Spinocerebellar ataxia 15EnrichmentITPR11.00
924Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.00
925Long qt syndrome 2EnrichmentSCN5A1.00
926Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.00
927Alazami syndromeEnrichmentCTNNB11.00
928Intellectual developmental disorder, autosomal dominant 26EnrichmentRYR11.00
929Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.00
930Hereditary sensory and autonomic neuropathy type 2EnrichmentSCN9A1.00
931Atrial fibrillationEnrichmentSCN5A1.00
932Hereditary ataxiaEnrichmentPRKCG1.00
933Color blindnessEnrichmentCNGA31.00
934Congenital myopathy 1aEnrichmentRYR11.00
935Sotos syndrome 1EnrichmentSCN4A1.00
936Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.00
937Spastic quadriplegic cerebral palsyEnrichmentADD31.00
938Newborn respiratory distress syndromeEnrichmentBRAF1.00
939Autosomal recessive osteopetrosisEnrichmentCLCN71.00
940Sick sinus syndromeEnrichmentSCN5A1.00
941Cardiomyopathy, dilated, 1aEnrichmentNFATC2, TNNI31.00
942Centronuclear myopathyEnrichmentCACNA1S, RYR11.00
943Optic atrophy plus syndromeEnrichmentCACNA1F, CNGA3, CNGB30.99
944Osteopetrosis, autosomal dominant 1EnrichmentCLCNKB0.97
945Nuchal bleb, familialEnrichmentSOS10.97
946Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, CLCNKA, CLIC5, HGF, MET, ROR10.95
947Kaposi sarcomaEnrichmentIL60.95
948Isolated growth hormone deficiency, type iiEnrichmentGH10.95
949Erythrocytosis, familial, 1EnrichmentEPOR0.95
950Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS0.95
951Mitochondrial dna depletion syndrome 6EnrichmentUCN0.95
952Microtia-anotiaEnrichmentBMP50.95
953Barrett esophagusEnrichmentERBB20.95
954Charcot-marie-tooth disease, axonal, type 2eeEnrichmentUCN0.95
955Lung sarcomatoid carcinomaEnrichmentKRAS0.95
956Weill-marchesani syndromeEnrichmentLTBP20.95
957Chronic myelomonocytic leukemiaEnrichmentFLT30.95
958Pilocytic astrocytomaEnrichmentKRAS0.95
959Epidermolytic nevusEnrichmentHRAS0.95
960Silver-russell syndrome due to a point mutationEnrichmentIGF20.95
961Non-syndromic bicoronal craniosynostosisEnrichmentFGFR30.95
962Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT0.95
963Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.95
964Oculomotor apraxiaEnrichmentSUFU0.95
965AutismEnrichmentCREBBP, SCN1A, SCN2A, SCN8A0.94
966Late-onset retinal degenerationEnrichmentPLA2G50.94
967Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R10.94
968Immunodeficiency 14EnrichmentPIK3R10.94
969Macs syndromeEnrichmentGDF6, PTCH10.94
970CraniosynostosisEnrichmentFGFR2, FGFR30.94
971Renal cell carcinoma, nonpapillaryEnrichmentMET, MTOR0.93
972Corpus callosum, agenesis ofEnrichmentCREBBP, DCC0.93
973Isolated corpus callosum agenesisEnrichmentCREBBP, DCC0.93
974Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP, DCC0.93
975Capillary malformations, congenitalEnrichmentGNA110.91
976Alzheimer disease 2EnrichmentNOS30.91
977Sotos syndromeEnrichmentSCN4A0.91
978Episodic ataxia, type 2EnrichmentCACNA1A0.91
979Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB30.91
980Visceral myopathy 1EnrichmentMYLK0.91
981Exudative vitreoretinopathy 1EnrichmentCTNNB10.91
982Congenital myopathy 1b, autosomal recessiveEnrichmentRYR10.91
983Arthrogryposis, distal, type 2b1EnrichmentTNNI20.91
984Night blindness, congenital stationary, type 1cEnrichmentGNAT10.91
985AmblyopiaEnrichmentCACNA1F0.91
986OsteopetrosisEnrichmentCLCN70.91
987Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB30.91
988Macular degenerationEnrichmentCNGA30.91
989Congenital short qt syndromeEnrichmentCACNA2D10.91
990Endometrial stromal sarcomaEnrichmentYWHAE0.91
991Sensory peripheral neuropathyEnrichmentSCN11A0.91
992Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD40.91
993ScoliosisEnrichmentCREBBP, RYR10.90
994Gastric cancerEnrichmentERBB2, FGFR2, KRAS0.88
995Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentKCTD3, PLA2G60.88
996Tooth agenesisEnrichmentFGFR1, TGFA0.87
997Cataract 6, multiple typesEnrichmentEPHA20.86
998Robinow syndrome, autosomal recessive 1EnrichmentROR20.86
999Rheumatoid arthritis, systemic juvenileEnrichmentIL60.86
1000Atrioventricular septal defectEnrichmentBMP50.86
1001Congenital heart defects, multiple types, 4EnrichmentBMP70.86
1002Juvenile glaucomaEnrichmentLTBP20.86
1003AniridiaEnrichmentEPHA20.86
1004Diffuse cutaneous systemic sclerosisEnrichmentCCN20.86
1005Gingival fibromatosisEnrichmentSOS10.85
1006Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS20.85
1007Auditory neuropathyEnrichmentCACNA1A, H1-40.84
1008Myopathy, centronuclear, 1EnrichmentRYR10.84
1009Weyers acrofacial dysostosisEnrichmentCTNNB10.84
1010Rubinstein-taybi syndrome 1EnrichmentCREBBP0.84
1011Metachromatic leukodystrophyEnrichmentCLCN10.84
1012Wilms tumor 5EnrichmentBRAF0.84
1013Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP0.84
1014Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB10.84
1015Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR10.84
1016Pain disorderEnrichmentSCN4A0.84
1017Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB10.84
1018HypertrichosisEnrichmentCREBBP0.84
1019Classic ehlers-danlos syndromeEnrichmentTGFBR10.84
1020Kidney clear cell sarcomaEnrichmentYWHAE0.84
1021Childhood absence epilepsyEnrichmentCACNA1H0.84
1022Focal cortical dysplasia, type iiEnrichmentMTOR0.82
1023Adenosine deaminase deficiencyEnrichmentPKIG0.82
1024Isolated focal cortical dysplasia type iiEnrichmentMTOR0.82
1025StrabismusEnrichmentCACNA1A, GNB10.82
1026Glaucoma, primary open angleEnrichmentLTBP20.79
1027Cowden syndrome 1EnrichmentEGFR0.79
1028Split-hand/foot malformation 1EnrichmentFGFR20.79
1029Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.79
1030Type 1 diabetes mellitusEnrichmentIL60.79
1031Dental anomalies and short statureEnrichmentLTBP30.79
1032Anterior segment dysgenesis 5EnrichmentBMP40.79
1033Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.79
1034Inflammatory myofibroblastic tumorEnrichmentALK0.79
1035Familial adult myoclonic epilepsyEnrichmentADRA2B0.79
1036Autosomal recessive robinow syndromeEnrichmentROR20.79
1037Limited sclerodermaEnrichmentCCN20.79
1038Esophageal cancerEnrichmentTGFBR20.78
1039Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentSCN3A0.78
1040BrachydactylyEnrichmentGNAS0.78
1041Hereditary hemorrhagic telangiectasiaEnrichmentSMAD40.78
1042Common variable immunodeficiencyEnrichmentNFKB10.78
1043Autosomal dominant sleep-related hypermotor epilepsyEnrichmentKCNT10.78
1044Paroxysmal dystoniaEnrichmentPDE2A0.78
1045Congenital hydrocephalusEnrichmentPTCH10.78
1046Gitelman syndromeEnrichmentCLCNKB0.77
1047Breast cancerEnrichmentGNG3, IL2, KRAS, PTCH20.75
1048Stargardt disease 1EnrichmentCNGB3, KCNV20.74
1049Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.73
1050Spermatogenic failure 5EnrichmentAKAP30.73
1051Multiple pterygium syndrome, lethal typeEnrichmentRYR10.73
1052Lymphoma, non-hodgkin, familialEnrichmentBRAF0.73
1053Exudative vitreoretinopathyEnrichmentCTNNB10.73
1054Congenital muscular dystrophyEnrichmentRYR10.73
1055HypothyroidismEnrichmentGNB10.73
1056MyocarditisEnrichmentTNNI30.73
1057Difference of sex developmentEnrichmentCACNA1A0.73
1058Silver-russell syndrome 1EnrichmentIGF20.72
1059MyelofibrosisEnrichmentSRC0.72
1060Squamous cell carcinoma, head and neckEnrichmentEGFR0.72
1061Waardenburg syndrome, type 2eEnrichmentKITLG0.72
1062Essential thrombocythemiaEnrichmentTHPO0.72
1063Hypophosphatemic ricketsEnrichmentFGF230.72
1064B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT30.72
1065Cystic fibrosisEnrichmentCLCA4, TGFB10.70
1066Connective tissue diseaseEnrichmentSMAD3, TGFBR20.70
1067Tracheoesophageal fistula with or without esophageal atresiaEnrichmentADD10.68
1068Bronchiectasis with or without elevated sweat chloride 1EnrichmentSCNN1B0.68
1069Nephrotic syndrome, type 1EnrichmentPLCE10.68
1070Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentPLN0.68
1071Myoclonic-atonic epilepsyEnrichmentSCN1A0.68
1072Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C0.68
1073Adult hepatocellular carcinomaEnrichmentCTNNB10.68
1074Bilateral perisylvian polymicrogyriaEnrichmentSCN3A0.68
1075Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentSCN5A0.68
1076Isolated growth hormone deficiency, type iaEnrichmentGH10.67
1077Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.67
1078NeuroblastomaEnrichmentALK0.67
1079Early-onset posterior polar cataractEnrichmentEPHA20.67
1080Hereditary retinal dystrophyEnrichmentCACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GRK1, KCNV20.67
1081Fundus dystrophyEnrichmentCACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GRK1, KCNV20.67
1082Complex neurodevelopmental disorderEnrichmentCACNA1C, CLCN3, GNB2, SCN2A, SCN8A0.67
1083Hepatocellular carcinomaEnrichmentIGF2R, MET0.66
1084Ciliary dyskinesia, primary, 3EnrichmentNFKB10.64
1085MelanomaEnrichmentBRAF0.64
1086Progressive myoclonus epilepsyEnrichmentKCTD70.64
1087Isolated tracheo-esophageal fistulaEnrichmentADD10.64
1088Epilepsy, familial focal, with variable foci 1EnrichmentCLCNKB0.64
1089Bartter diseaseEnrichmentCLCNKB0.64
1090Orofacial cleft 1EnrichmentFGF100.63
1091Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT30.63
1092Hypogonadotropic hypogonadismEnrichmentFGFR10.63
1093Congenital central hypoventilation syndromeEnrichmentBDNF0.63
1094Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.63
1095Renal agenesis, bilateralEnrichmentFGF200.63
1096MegacolonEnrichmentAKT30.60
1097Pectus excavatumEnrichmentTGFBR10.60
1098Epilepsy, idiopathic generalizedEnrichmentCACNA1H0.60
1099Myelodysplastic syndromeEnrichmentGNB10.60
110046,xy complete gonadal dysgenesisEnrichmentDHH0.60
1101Meier-gorlin syndrome 1EnrichmentFGFR20.59
1102Peters-plus syndromeEnrichmentBMP40.59
1103Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMUSK0.59
1104Stickler syndromeEnrichmentBMP40.59
1105Primary bone dysplasiaEnrichmentFGFR30.59
1106CakutEnrichmentGDF6, LIFR0.58
1107Restrictive cardiomyopathyEnrichmentTNNI30.57
1108Frontotemporal dementia 1EnrichmentCSF1R0.55
1109OsteochondrodysplasiaEnrichmentFGFR30.55
1110Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentRYR10.54
1111Pulmonary disease, chronic obstructiveEnrichmentPDE3B0.54
1112Acute promyelocytic leukemiaEnrichmentPRKAR1A0.54
1113ClubfootEnrichmentRYR10.54
1114Septooptic dysplasiaEnrichmentFGFR10.52
1115Cutis laxaEnrichmentLTBP40.52
1116Nephrotic syndromeEnrichmentCLCN5, PLCE10.52
1117Multiple sclerosisEnrichmentITPR10.51
1118Myoclonic epilepsy of unverricht and lundborgEnrichmentKCTD70.51
1119Cowden syndromeEnrichmentAKT10.51
1120Alzheimer's diseaseEnrichmentCSF1R0.49
1121OligospermiaEnrichmentCDK160.49
1122Amelogenesis imperfectaEnrichmentLTBP30.49
1123Protein-deficiency anemiaEnrichmentNRAS0.49
1124MyopiaEnrichmentCACNA1F0.49
1125Anterior segment dysgenesisEnrichmentITPR10.49
1126Neuronal ceroid lipofuscinosisEnrichmentKCTD70.49
1127Lynch syndromeEnrichmentTGFBR20.49
1128Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.48
1129Familial colorectal cancerEnrichmentPLA2G2A0.48
1130Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.48
1131Wolff-parkinson-white syndromeEnrichmentSCN5A0.47
1132Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.47
1133OsteoporosisEnrichmentSRC0.47
1134CataractEnrichmentEPHA20.47
1135Melanoma, cutaneous malignant 1EnrichmentBRAF0.45
1136Cleft palate, isolatedEnrichmentGNB10.45
1137Polycystic liver diseaseEnrichmentCTNNB10.45
1138Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.45
1139Osteogenesis imperfecta, type iiiEnrichmentBMP10.44
1140Heart, malformation ofEnrichmentMAPK10.43
1141Neuromuscular diseaseEnrichmentRYR10.43
1142Severe combined immunodeficiencyEnrichmentPKIG, PTPRC0.42
1143Aortic valve disease 1EnrichmentSOS10.41
1144Primary ciliary dyskinesiaEnrichmentDRC4, PRKAR1B, STK360.41
1145Esophageal atresia/tracheoesophageal fistulaEnrichmentADD10.41
1146Cataract 44EnrichmentEPHA20.40
1147Focal segmental glomerulosclerosisEnrichmentPLCE10.39
114846,xy partial gonadal dysgenesisEnrichmentSOS10.39
1149ThrombocytopeniaEnrichmentSRC, THPO0.38
1150Human immunodeficiency virus type 1EnrichmentCXCL120.38
1151Early-onset nuclear cataractEnrichmentEPHA20.38
1152HepatoblastomaEnrichmentCTNNB10.37
1153Attention deficit-hyperactivity disorderEnrichmentGNB50.36
1154Myocardial infarctionEnrichmentCLCN10.36
1155Visceral heterotaxyEnrichmentLEFTY20.36
1156MicrophthalmiaEnrichmentPTCH10.36
1157Skin diseaseEnrichmentCLCN60.36
1158MalariaEnrichmentSCN8A0.35
1159Non-syndromic male infertility due to sperm motility disorderEnrichmentAKAP40.35
1160Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKITLG, PDE1C0.34
1161Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D4, CNGA1, CNGB1, CNGB3, GNAT10.33
1162Endometrial cancerEnrichmentFGFR20.33
1163Pancreatic cancerEnrichmentSMAD40.32
1164Hereditary breast ovarian cancer syndromeEnrichmentKRAS, PTCH10.32
1165Brittle bone disorderEnrichmentBMP10.30
1166Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT30.30
1167Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, ERBB40.29
1168Hereditary breast carcinomaEnrichmentAKT1, KRAS0.28
1169Sensorineural hearing lossEnrichmentCLCNKA, HGF0.27
1170Autism spectrum disorderEnrichmentGNB1, MAP2K1, SCN2A0.27
1171Prostate cancerEnrichmentEPHB20.24
1172Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.23
1173Isolated joubert syndromeEnrichmentSUFU0.23
1174Non-syndromic x-linked intellectual disabilityEnrichmentCLCN40.22
1175Peripheral nervous system diseaseEnrichmentNGF0.21
1176NeuropathyEnrichmentNGF0.21
1177Deafness, autosomal recessiveEnrichmentCLCNKA, CLIC50.17
1178Autosomal recessive nonsyndromic deafnessEnrichmentCLCNKA, CLIC50.16
1179Leber plus diseaseEnrichmentCNGB3, GDF6, RGS90.13
1180HypertelorismEnrichmentFGFR20.10
1181Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.09
1182Mitochondrial diseaseEnrichmentGFER0.03

Loading...
Loading...
Loading...