MIF Mediated Glucocorticoid Regulation

Pathway network for the MIF Mediated Glucocorticoid Regulation SuperPath

Sources:
  • QIAGEN
  • WikiPathways

Pathways in the MIF Mediated Glucocorticoid Regulation SuperPath

#NameSourceGenes
1MIF Mediated Glucocorticoid RegulationQIAGEN
2Endothelin-1 Signaling PathwayQIAGEN
3STAT3 PathwayQIAGEN
4Glucocorticoid Receptor SignalingQIAGEN
5IL-6 PathwayQIAGEN
6RAR-Gamma-RXR-Alpha DegradationQIAGEN
7PEDF Induced SignalingQIAGEN
8all-trans-Retinoic Acid Signaling in BrainQIAGEN
9MIF Regulation of Innate Immune CellsQIAGEN
10PGC1Alpha PathwayQIAGEN
11Overview of proinflammatory and profibrotic mediatorsWikiPathways
12NFAT Signaling and Lymphocyte InteractionsQIAGEN

Gene overlap in member pathways for MIF Mediated Glucocorticoid Regulation SuperPath

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

Disorders associated with MIF Mediated Glucocorticoid Regulation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CXCL12, IL10, IL1916.00
2Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS216.00
3RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS216.00
4Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF19.81
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.78
6Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.78
7Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, NRAS7.72
8Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF17.31
9Coffin-siris syndrome 1EnrichmentARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE17.24
10Lung cancerEnrichmentALK, BRAF, CASP8, EGFR, ERBB2, FASLG, KRAS, MET6.96
11Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF16.89
12Behcet syndromeEnrichmentCCR1, FAS, IL10, IL12A, IL23R, TNFRSF1A6.18
13T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E6.13
14Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, TGFB16.09
15Differentiated thyroid carcinomaEnrichmentALK, BRAF, HRAS, KRAS, NRAS, NTRK1, NTRK36.04
16Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.83
17Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR3, KRAS5.73
18Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, KRAS, ROS15.38
19Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS5.37
20Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS15.37
21AsthmaEnrichmentALOX5, CCL11, IL13, TNF5.34
22Colorectal cancerEnrichmentBAX, BRAF, ERBB2, FGFR2, FGFR3, MET, NRAS, PIK3R1, PLA2G2A, SRC5.24
23Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.24
24Bladder cancerEnrichmentEGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS4.83
25Oligoarticular juvenile idiopathic arthritisEnrichmentCD247, IL2RA, IL2RB4.60
26Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD247, IL2RA, IL2RB4.60
27Auriculocondylar syndrome 1EnrichmentEDN1, GNAI3, PLCB44.57
28Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.34
29Multisystem inflammatory syndrome in childrenEnrichmentIFNA21, IFNA4, IFNA6, IFNB14.34
30Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS4.31
31Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS4.31
32Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, HRAS, KIT4.25
33Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.18
34Ovarian cancerEnrichmentALK, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, RRAS23.89
35Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.89
36Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.89
37Diffuse large b-cell lymphomaEnrichmentBRAF, BTK, SOCS1, STAT33.83
38Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G3.65
39Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB13.62
40Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B3.62
41Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C3.61
42Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, ROS13.60
43Psoriatic arthritisEnrichmentLTA, TNF3.59
44Hepatitis c virusEnrichmentIFNG, IFNL33.59
45Non-immune hydrops fetalisEnrichmentANGPT2, EPHB4, FLT4, HRAS, KRAS3.57
46Nasopharyngeal carcinomaEnrichmentNFKBIA, TP533.55
47Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS3.53
48Fibrodysplasia ossificans progressivaEnrichmentACVR1, BMPR23.50
49Lymphatic malformation 1EnrichmentEPHB4, FLT43.44
50Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT43.44
51Pulmonic stenosisEnrichmentBRAF, SOS13.44
52Pfeiffer syndromeEnrichmentFGFR1, FGFR23.44
53Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.44
54Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.44
55Angioma, tuftedEnrichmentGNA14, KDR3.44
56Hereditary lymphedema iEnrichmentEPHB4, FLT43.44
57Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.41
58Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS3.40
59Arteriovenous malformationEnrichmentHRAS, MAP2K1, TEK3.37
60Autoimmune lymphoproliferative syndromeEnrichmentFAS, FASLG3.31
61Systemic-onset juvenile idiopathic arthritisEnrichmentIL6, MIF3.29
62Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, TEK3.22
63High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC3.19
64Myeloma, multipleEnrichmentBRAF, FGFR3, FLT3, KRAS, MST1R, PIK3R23.18
65Stroke, ischemicEnrichmentF2, NOS3, PRKCH3.13
66Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.12
67Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.12
68Ventricular septal defect 1EnrichmentBMP2, BMP73.09
69Rheumatoid arthritis, systemic juvenileEnrichmentIL6, MIF3.07
70Mycosis fungoidesEnrichmentCD28, TNFRSF1B3.03
71Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT33.03
72Saczary syndromeEnrichmentCD28, TNFRSF1B3.03
73Crouzon syndromeEnrichmentFGFR2, FGFR32.97
74Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR32.97
75Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R12.97
76Testicular germ cell cancerEnrichmentFGFR3, KIT2.97
77SpermatocytomaEnrichmentFGFR3, HRAS2.97
78Anastomosing haemangiomaEnrichmentGNA11, GNA142.97
79Gastric cancerEnrichmentCASP10, ERBB2, FGFR2, IL1B, KRAS2.89
80Type 1 diabetes mellitusEnrichmentIL6, INS2.88
81Aortic aneurysmEnrichmentSMAD3, TGFBR12.85
82Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB22.78
83Nk-cell enteropathyEnrichmentAXL, ERBB4, IGF1R2.77
84Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, PPP3CA2.77
85Common variable immunodeficiencyEnrichmentCD40LG, NFKB12.75
86Brachydactyly, type a2EnrichmentBMP2, BMPR1B2.73
87Breast adenocarcinomaEnrichmentAKT1, KRAS2.72
88Hirschsprung disease 1EnrichmentECE1, EDNRB, ERBB2, ERBB32.68
89Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.68
90Achromatopsia 4EnrichmentGNAI3, GNAT22.68
91Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.68
92GliomaEnrichmentFGFR2, NTRK32.68
93Hemochromatosis, type 1EnrichmentBMP2, BMP62.65
94Atrioventricular septal defectEnrichmentBMP5, SMARCAL12.64
95Systemic lupus erythematosusEnrichmentIL10, SOCS1, TNF, TNFSF42.60
96Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.58
97Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.58
98Gallbladder cancerEnrichmentBRAF, KRAS2.58
99Long qt syndrome 1EnrichmentCALM1, CALM2, CALM32.55
100Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RA, CSF2RB2.52
101GliosarcomaEnrichmentEGFR, FGFR1, FGFR32.50
102Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.46
103Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.46
104Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB, TGFB12.46
105Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.46
106Pre-eclampsiaEnrichmentFLT1, NOS32.46
107Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.46
108Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.46
109Omenn syndromeEnrichmentIL2RG, IL7R2.42
110Familial colorectal cancerEnrichmentPLA2G2A, TP532.39
111Overgrowth syndromeEnrichmentMTOR, PIK3R12.36
112Congenital central hypoventilation syndromeEnrichmentBDNF, GDNF2.35
113Chronic mucocutaneous candidiasisEnrichmentIL17RA, IL17RC2.35
114Melanoma, uvealEnrichmentGNA11, PLCB42.29
115Testicular germ cell tumorEnrichmentFGFR3, KIT2.29
116Hemangioma, capillary infantileEnrichmentFLT4, KDR2.29
11746,xy disorder of sex developmentEnrichmentFGFR3, INSR2.29
118TrichothiodystrophyEnrichmentGTF2E2, GTF2H52.28
119MyelofibrosisEnrichmentJAK2, SRC2.21
120Leukemia, acute myeloidEnrichmentFLT3, KIT, KRAS, NRAS2.17
121Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D42.15
122Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.15
123Type 2 diabetes mellitusEnrichmentIL6, INSR, SLC2A42.13
124Cornelia de lange syndrome 1EnrichmentHDAC8, TAF62.10
125Charge syndromeEnrichmentEP300, TNFRSF1A2.10
126Loeys-dietz syndromeEnrichmentSMAD3, TGFBR12.10
127Cornelia de lange syndromeEnrichmentHDAC8, TAF62.10
128Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.04
129Type 1 diabetes mellitus 10EnrichmentIL2RA2.04
130Epilepsy, idiopathic generalized 9EnrichmentCACNB42.04
131Brugada syndrome 4EnrichmentCACNB22.04
132Episodic ataxia, type 5EnrichmentCACNB42.04
133Angioedema, hereditary, 5EnrichmentANGPT12.04
134Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG2.04
135Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL72.04
136Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I2.04
137Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB2.04
138Congenital myopathy 18EnrichmentCACNA1S2.04
139Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.04
140Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.04
141Ovarian dysgenesis 2EnrichmentBMP152.04
142Okt4 epitope deficiencyEnrichmentCD42.04
143Graft-versus-host diseaseEnrichmentIL102.04
144Microphthalmia, syndromic 6EnrichmentBMP42.04
145Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F2.04
146Isolated growth hormone deficiency type iiiEnrichmentBTK2.04
147Retinal cone dystrophy 4EnrichmentCACNA2D42.04
148Orofacial cleft 11EnrichmentBMP42.04
149Immunodeficiency 18EnrichmentCD3E2.04
150Allergic rhinitisEnrichmentIL132.04
151Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.04
152Immunodeficiency 25EnrichmentCD2472.04
153Brugada syndrome 3EnrichmentCACNA1C2.04
154Epilepsy, childhood absence 6EnrichmentCACNA1H2.04
155Malignant hyperthermia 5EnrichmentCACNA1S2.04
156Immunodeficiency with hyper-igm, type 3EnrichmentCD402.04
157Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG22.04
158Iron overloadEnrichmentBMP62.04
159Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.04
160Immunodeficiency 29EnrichmentIL12B2.04
161Spinocerebellar ataxia 42EnrichmentCACNA1G2.04
162Developmental and epileptic encephalopathy 110EnrichmentCACNA2D12.04
163Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G2.04
164Developmental and epileptic encephalopathy 69EnrichmentCACNA1E2.04
16520p12.3 microdeletion syndromeEnrichmentBMP22.04
166Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.04
167Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.04
168Immunodeficiency 79EnrichmentCD42.04
169Immunodeficiency 19, severe combinedEnrichmentCD3D2.04
170Immature teratoma of ovaryEnrichmentBMP152.04
171Conn's syndromeEnrichmentCACNA1H2.04
172Cd40 ligand deficiencyEnrichmentCD40LG2.04
173Sporadic hemiplegic migraineEnrichmentCACNA1A2.04
174Atypical timothy syndromeEnrichmentCACNA1C2.04
175Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.04
176Immunodeficiency 19EnrichmentCD3D2.04
177Timothy syndrome type 2EnrichmentCACNA1C2.04
178Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.04
179Timothy syndrome type 1EnrichmentCACNA1C2.04
180Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT52.04
181Cacna1c-related disordersEnrichmentCACNA1C2.04
182Benign paroxysmal torticollis of infancyEnrichmentCACNA1A2.04
183Leprosy 4EnrichmentLTA2.03
184Microvascular complications of diabetes 2EnrichmentEPO2.03
185Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosisEnrichmentIL1RN2.03
186Candidiasis, familial, 6EnrichmentIL17F2.03
187Immunodeficiency 69EnrichmentIFNG2.03
188Microvascular complications of diabetes 1EnrichmentVEGFA2.03
189Microvascular complications of diabetes 4EnrichmentIL1RN2.03
190Coronary heart disease 6EnrichmentMMP32.03
191Erythrocytosis, familial, 5EnrichmentEPO2.03
192Inflammatory bowel disease 31, autosomal recessiveEnrichmentIL372.03
193Inflammatory bowel diseaseEnrichmentIL372.03
194Lymphoma, non-hodgkin, familialEnrichmentBRAF, CASP102.03
195Deafness, autosomal recessive 39EnrichmentHGF2.03
196Glucocorticoid resistance, generalizedEnrichmentNR3C12.03
197Noonan syndrome 13EnrichmentMAPK12.03
198Lymphoproliferative syndrome 3EnrichmentCD702.03
199Macular degeneration, age-related, 10EnrichmentTLR42.03
200Loeys-dietz syndrome 5EnrichmentTGFB32.03
201Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF122.03
202Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A2.02
203Donohue syndromeEnrichmentINSR2.02
204Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.02
205Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.02
206Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.02
207Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.02
208Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R12.02
209Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A2.02
210Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R2.02
211Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB2.02
212Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R2.02
213Multiple sclerosis 5EnrichmentTNFRSF1A2.02
214Long qt syndrome 16EnrichmentCALM32.02
215Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R2.02
216Candidiasis, familial, 9EnrichmentIL17RC2.02
217Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A2.02
218Long qt syndrome 15EnrichmentCALM22.02
2195q14.3 microdeletion syndromeEnrichmentMEF2C2.02
220Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.02
221T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R2.02
222Mef2c-related disorderEnrichmentMEF2C2.02
223Bone marrow failure syndrome 5EnrichmentTP532.01
224Papilloma of choroid plexusEnrichmentTP532.01
225Basal cell carcinoma 7EnrichmentTP532.01
226Anaplastic thyroid carcinomaEnrichmentTP532.01
227Ductal carcinoma in situEnrichmentTP532.01
228Thyroid gland undifferentiated carcinomaEnrichmentTP532.01
229Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.01
230Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.01
231Choroid plexus cancerEnrichmentTP532.01
232Pleomorphic xanthoastrocytomaEnrichmentTP532.01
233Ventricular septal defectEnrichmentBRAF, TEK1.98
234Primary biliary cholangitisEnrichmentIL12A, IL12RB11.98
235Breast cancerEnrichmentAKT1, CASP8, IL2, KRAS1.97
236Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, PPP3CA1.97
237Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.95
238Leukotriene c4 synthase deficiencyEnrichmentLTC4S1.95
239Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.95
240Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.95
241Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.95
242Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.95
243Microphthalmia, syndromic 12EnrichmentRARB1.95
244Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.95
245AtherosclerosisEnrichmentALOX51.95
246Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.95
247Proteus syndromeEnrichmentAKT11.94
248Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A1.94
249Oculoectodermal syndromeEnrichmentKRAS1.94
250Pallister-killian syndromeEnrichmentARAF1.94
251Incontinentia pigmentiEnrichmentIKBKG1.94
252Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.94
253Noonan syndrome 5EnrichmentRAF11.94
254Caspase 8 deficiencyEnrichmentCASP81.94
255Melorheostosis, isolatedEnrichmentMAP2K11.94
256Noonan syndrome 7EnrichmentBRAF1.94
257Leopard syndrome 3EnrichmentBRAF1.94
258Microvascular complications of diabetes 6EnrichmentSOD21.94
259Cardiomyopathy, dilated, 1nnEnrichmentRAF11.94
260Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.94
261Melanosis, neurocutaneousEnrichmentNRAS1.94
262Noonan syndrome 6EnrichmentNRAS1.94
263Fetal encasement syndromeEnrichmentCHUK1.94
264Developmental and epileptic encephalopathy 27EnrichmentGRIN2B1.94
265Noonan syndrome 11EnrichmentMRAS1.94
266Immunodeficiency 15bEnrichmentIKBKB1.94
267Immunodeficiency 15aEnrichmentIKBKB1.94
268Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.94
269Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.94
270LymphangiomaEnrichmentBRAF1.94
271Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN11.94
272Phace associationEnrichmentBRAF1.94
273MelorheostosisEnrichmentMAP2K11.94
274Leopard syndrome 2EnrichmentRAF11.94
275Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B1.94
276Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.94
277Cowden syndrome 6EnrichmentAKT11.94
278Hirschsprung disease 3EnrichmentGDNF1.94
279Developmental and epileptic encephalopathy 101EnrichmentGRIN11.94
280Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN11.94
281Bartsocas-papas syndrome 2EnrichmentCHUK1.94
282TrigonitisEnrichmentRAF11.94
283Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B1.94
284Landau-kleffner syndromeEnrichmentGRIN2A1.94
285Congenital pulmonary airway malformationEnrichmentKRAS1.94
286Syringocystadenoma papilliferumEnrichmentBRAF1.94
287Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.94
288GangliogliomaEnrichmentBRAF1.94
289Intellectual disability, autosomal dominant 8EnrichmentGRIN11.94
290Nongerminomatous germ cell tumorEnrichmentBRAF1.94
291Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A1.94
292Grin2a-related disordersEnrichmentGRIN2A1.94
293Phace syndromeEnrichmentBRAF1.94
294Phakomatosis pigmentokeratoticaEnrichmentHRAS1.94
295Classic hairy cell leukemiaEnrichmentBRAF1.94
296Neurocutaneous melanocytosisEnrichmentNRAS1.94
297Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.93
298Primary hyperaldosteronismEnrichmentBRAF, GNAS1.93
299Meningioma, familialEnrichmentSMARCB1, SMARCE11.92
300Atrial heart septal defectEnrichmentHDAC8, SMARCA41.92
301Interatrial communicationEnrichmentHDAC8, SMARCA41.92
302MicrocephalyEnrichmentARID1A, EP300, HDAC8, MAPK1, SMARCA5, SMARCAL11.91
303Osteogenesis imperfecta, type iiiEnrichmentBMP1, SERPINF11.91
304Johanson-blizzard syndromeEnrichmentUBR11.90
305Kaufman oculocerebrofacial syndromeEnrichmentUBE3B1.90
306Stankiewicz-isidor syndromeEnrichmentPSMD121.90
307Trichothiodystrophy 6, nonphotosensitiveEnrichmentGTF2E21.90
308Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.90
309Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.90
310Neurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesEnrichmentUBE3C1.90
31115q11q13 microduplication syndromeEnrichmentUBE3A1.90
312Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR1.89
313Hydrops fetalis, nonimmuneEnrichmentEPHB4, FLT4, HRAS1.89
314MeningiomaEnrichmentSMARCB1, SMARCE11.85
315Spinocerebellar ataxia 12EnrichmentPPP2R2B1.83
316Dermatitis, atopic, 4EnrichmentSOCS31.83
317Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.83
318Stuve-wiedemann syndrome 2EnrichmentIL6ST1.83
319Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST1.83
320Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.83
321Short syndromeEnrichmentPIK3R11.83
322Houge-janssens syndrome 4EnrichmentPPP2R5C1.83
323T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.83
324Houge-janssens syndrome 2EnrichmentPPP2R1A1.83
325Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.83
326Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.83
327Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.83
328Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST1.83
329Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST1.83
330T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.83
331Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.83
332Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.83
333Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.83
334Basan syndromeEnrichmentSMARCAD11.81
335AdermatoglyphiaEnrichmentSMARCAD11.81
336Huriez syndromeEnrichmentSMARCAD11.81
337Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC61.81
338Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF11.81
339Dystonia 3, torsion, x-linkedEnrichmentTAF11.81
340Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.81
341Schimke immunoosseous dysplasiaEnrichmentSMARCAL11.81
342Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityEnrichmentTAF21.81
343Coffin-siris syndrome 5EnrichmentSMARCE11.81
344Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS1.81
345Coffin-siris syndrome 11EnrichmentSMARCD11.81
346Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.81
347Hydrocephalus, congenital, 5EnrichmentSMARCC11.81
348Auriculocondylar syndrome 4EnrichmentHDAC91.81
349Cornelia de lange syndrome 5EnrichmentHDAC81.81
350Orofacial cleft 10EnrichmentSUMO11.81
351Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB11.81
352NeurilemmomaEnrichmentSMARCB11.81
353Alazami-yuan syndromeEnrichmentTAF61.81
354Coffin-siris syndrome 3EnrichmentSMARCB11.81
355Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.81
356Ovarian small cell carcinomaEnrichmentSMARCA41.81
357Intellectual developmental disorder, autosomal recessive 60EnrichmentTAF131.81
358Fraser syndrome 3EnrichmentGRIP11.81
359Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA21.81
360Menke-hennekam syndrome 1EnrichmentCREBBP1.81
361Guillouet-gordon syndromeEnrichmentMED161.81
362Heritable thoracic aortic diseaseEnrichmentSMAD41.81
363Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.81
364Keratoderma with scleroatrophy of the extremitiesEnrichmentSMARCAD11.81
365Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.81
366X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF11.81
367Facial cleftEnrichmentSMARCE11.81
368Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD21.81
369Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA1.81
370Menke-hennekam syndromeEnrichmentCREBBP1.81
371Combined immunodeficiencyEnrichmentCD27, IL2RG1.81
372Combined t cell and b cell immunodeficiencyEnrichmentCD27, IL2RG1.81
373Heritable pulmonary arterial hypertensionEnrichmentACVRL1, BMPR21.81
374Combined t and b cell immunodeficiencyEnrichmentCD27, IL2RG1.81
375Amyloidosis, primary localized cutaneous, 1EnrichmentOSMR1.75
376Immune deficiency, familial variableEnrichmentTNFRSF13B1.75
377Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA1.75
378Immunodeficiency 35EnrichmentTYK21.75
379Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL11.75
380Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A1.75
381Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A1.75
382Acromesomelic dysplasia 3EnrichmentBMPR1B1.75
383Immunodeficiency 30EnrichmentIL12RB11.75
384Immunodeficiency 16EnrichmentTNFRSF41.75
385Polycystic lung diseaseEnrichmentCCR21.75
386Brachydactyly, type a1, dEnrichmentBMPR1B1.75
387Whim syndrome 1EnrichmentCXCR41.75
388Craniosynostosis and dental anomaliesEnrichmentIL11RA1.75
389Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.75
390Osteofibrous dysplasiaEnrichmentMET1.75
391Immunoglobulin a deficiency 2EnrichmentTNFRSF13B1.75
392Deafness, autosomal recessive 97EnrichmentMET1.75
393Psoriasis 7EnrichmentIL23R1.75
394Autism 9EnrichmentMET1.75
395Inflammatory bowel disease 17EnrichmentIL23R1.75
396Type 1 diabetes mellitus 22EnrichmentCCR51.75
397Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.75
398Macular degeneration, age-related, 12EnrichmentCX3CR11.75
399PsoriasisEnrichmentIL17RA1.75
400Thrombocytopenia 6EnrichmentSRC1.75
401Glaucoma 3, primary congenital, eEnrichmentTEK1.75
402Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.75
403TelangiectasisEnrichmentACVRL11.75
404Whim syndrome 2EnrichmentCXCR21.75
405Arthrogryposis, distal, type 11EnrichmentMET1.75
406Csf1r-related disorderEnrichmentCSF1R1.75
407Immunodeficiency 109 with lymphoproliferationEnrichmentTNFRSF91.75
408Bockenheimer syndromeEnrichmentTEK1.75
409Primary pulmonary hypertensionEnrichmentBMPR21.75
410Pulmonary hypertensionEnrichmentBMPR21.75
411Chronic neutrophilic leukemiaEnrichmentCSF3R1.75
412Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR21.75
413Common variable immunodeficiency phenotype due to homozygous taci deficiencyEnrichmentTNFRSF13B1.75
414Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR21.75
415Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.75
416Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.75
417Myocardial infarctionEnrichmentLTA, TNFSF41.75
418Timothy syndromeEnrichmentCACNA1C1.74
419Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.74
420Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.74
421Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.74
422Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.74
423Osteogenesis imperfecta, type xiiiEnrichmentBMP11.74
424Long qt syndrome 8EnrichmentCACNA1C1.74
425Agammaglobulinemia, x-linkedEnrichmentBTK1.74
426Intravascular large b-cell lymphomaEnrichmentBCL21.74
427Immunodeficiency 17EnrichmentCD3G1.74
428Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.74
429Craniosynostosis 7EnrichmentBMP21.74
430Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.74
431Lymphatic malformation 10EnrichmentANGPT21.74
432Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.74
433Progressive bulbar palsyEnrichmentCACNA1A1.74
434Camurati-engelmann disease 1EnrichmentTGFB11.73
435Psoriasis 14, pustularEnrichmentIL36RN1.73
436Diamond-blackfan anemia-likeEnrichmentEPO1.73
437Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.73
438Immunodeficiency 127EnrichmentTNF1.73
439Recessive dystrophic epidermolysis bullosaEnrichmentMMP11.73
440Camurati-engelmann diseaseEnrichmentTGFB11.73
441Metaphyseal anadysplasia 2EnrichmentMMP91.73
442Metaphyseal anadysplasiaEnrichmentMMP91.73
443Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D41.73
444Galactosemia iiEnrichmentNR3C11.73
445Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.73
446Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.73
447Osteopetrosis, autosomal recessive 2EnrichmentTNFSF111.73
448Loeys-dietz syndrome 4EnrichmentTGFB31.73
449Common variable immunodeficiency 12EnrichmentNFKB11.73
450Histiocytoma, angiomatoid fibrousEnrichmentCREB11.72
451Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.72
452Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.72
453Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.72
454Maturity-onset diabetes of the young, type 10EnrichmentINS1.72
455Long qt syndrome 14EnrichmentCALM11.72
456HyperproinsulinemiaEnrichmentINS1.72
457Immunodeficiency, common variable, 4EnrichmentTNFRSF13C1.72
458Inflammatory bowel disease 28EnrichmentIL10RA1.72
459Immunodeficiency 104, severe combinedEnrichmentIL7R1.72
460Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.72
461Multiple sclerosis 3EnrichmentIL7R1.72
462Mitochondrial dna depletion syndrome 15EnrichmentTFAM1.72
463Intermittent hydrarthrosisEnrichmentTNFRSF1A1.72
464Lymphatic malformation 5EnrichmentEPHB41.72
465Brachydactyly, type b1EnrichmentROR21.72
466Erythroleukemia, familialEnrichmentERBB31.72
467HypochondroplasiaEnrichmentFGFR31.72
468Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.72
469Paget disease, extramammaryEnrichmentERBB21.72
470Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.72
471Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS11.72
472Osteoglophonic dysplasiaEnrichmentFGFR11.72
473Thanatophoric dysplasia, type iEnrichmentFGFR31.72
474Trigonocephaly 1EnrichmentFGFR11.72
475Muenke syndromeEnrichmentFGFR31.72
476Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.72
477Noonan syndrome 4EnrichmentSOS11.72
478Pseudohypoparathyroidism, type icEnrichmentGNAS1.72
479Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.72
480Mastocytosis, cutaneousEnrichmentKIT1.72
481Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.72
482Osseous heteroplasia, progressiveEnrichmentGNAS1.72
483Prothrombin deficiency, congenitalEnrichmentF21.72
484Apert syndromeEnrichmentFGFR21.72
485Neuroblastoma 3EnrichmentALK1.72
486Cardiac valvular dysplasia 1EnrichmentPLD11.72
487Mandibulofacial dysostosis with alopeciaEnrichmentEDNRA1.72
488Myofibromatosis, infantile, 1EnrichmentPDGFRB1.72
489Thanatophoric dysplasia, type iiEnrichmentFGFR31.72
490Noonan syndrome 9EnrichmentSOS21.72
491Lethal congenital contracture syndrome 2EnrichmentERBB31.72
492Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.72
493Gist-plus syndromeEnrichmentPDGFRA1.72
494Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.72
495Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.72
496Bent bone dysplasia syndrome 1EnrichmentFGFR21.72
497Ventricular tachycardia, familialEnrichmentGNAI21.72
498Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.72
499Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.72
500Auriculocondylar syndrome 3EnrichmentEDN11.72
501Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.72
502Deafness, autosomal recessive 108EnrichmentROR11.72
503Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.72
504Developmental and epileptic encephalopathy 58EnrichmentNTRK21.72
505Pituitary adenoma 3, multiple typesEnrichmentGNAS1.72
506Auriculocondylar syndrome 2aEnrichmentPLCB41.72
507Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.72
508Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.72
509Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.72
510Developmental and epileptic encephalopathy 17EnrichmentGNAO11.72
511Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.72
512Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.72
513Question mark ears, isolatedEnrichmentEDN11.72
514Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.72
515Spinocerebellar ataxia 14EnrichmentPRKCG1.72
516Hirschsprung disease, cardiac defects, and autonomic dysfunctionEnrichmentECE11.72
517Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.72
518Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.72
519Dystonia 25EnrichmentGNAL1.72
520Night blindness, congenital stationary, type 1gEnrichmentGNAT11.72
521Hypocalcemia, autosomal dominant 2EnrichmentGNA111.72
522Amyotrophic lateral sclerosis 19EnrichmentERBB41.72
523Nasopharyngeal carcinoma 3EnrichmentMST1R1.72
524Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.72
525Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.72
526Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.72
527Disorders of gnas inactivationEnrichmentGNAS1.72
528Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.72
529Pregnancy loss, recurrent 2EnrichmentF21.72
530Kosaki overgrowth syndromeEnrichmentPDGFRB1.72
531Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.72
532Hartsfield syndromeEnrichmentFGFR11.72
533Congenital heart defects, multiple types, 7EnrichmentFLT41.72
534Bleeding disorder, platelet-type, 22EnrichmentEPHB21.72
535Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.72
536Chronic mast cell leukemiaEnrichmentKIT1.72
537Warburg-cinotti syndromeEnrichmentDDR21.72
538Auriculocondylar syndrome 2bEnrichmentPLCB41.72
539Tufted angioma of skinEnrichmentKDR1.72
540Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.72
541Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP21.72
542Prothrombin deficiencyEnrichmentF21.72
543Isolated bone marrow mastocytosisEnrichmentKIT1.72
544Smoldering systemic mastocytosisEnrichmentKIT1.72
545Alk-positive anaplastic large cell lymphomaEnrichmentALK1.72
546Fgfr3-related chondrodysplasiaEnrichmentFGFR31.72
547MastocytosisEnrichmentKIT1.72
548Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.72
549Cutaneous mastocytomaEnrichmentKIT1.72
550Monostotic fibrous dysplasiaEnrichmentGNAS1.72
551Typical urticaria pigmentosaEnrichmentKIT1.72
552Gnao1-related disorderEnrichmentGNAO11.72
553Nodular urticaria pigmentosaEnrichmentKIT1.72
554Phakomatosis cesiomarmorataEnrichmentGNA111.72
555Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.72
556Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.72
557Alk-positive large b-cell lymphomaEnrichmentALK1.72
558Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.72
559Kaposiform hemangioendotheliomaEnrichmentGNA141.72
560Telangiectasia macularis eruptiva perstansEnrichmentKIT1.72
561Acute mast cell leukemiaEnrichmentKIT1.72
562Mazabraud syndromeEnrichmentGNAS1.72
563Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.72
564Plaque-form urticaria pigmentosaEnrichmentKIT1.72
565Serous carcinoma of the corpus uteriEnrichmentERBB21.72
566Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.72
567Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.72
568Vein of galen aneurysmal malformationEnrichmentEPHB41.72
569Testis seminomaEnrichmentKIT1.72
570Adrenocortical carcinoma, hereditaryEnrichmentTP531.71
571Cervical cancerEnrichmentTP531.71
572Lymphoma, hodgkin, classicEnrichmentTP531.71
573Congenital fibrosarcomaEnrichmentTP531.71
574Li-fraumeni syndrome 1EnrichmentTP531.71
575SarcomaEnrichmentTP531.71
576Cervix carcinomaEnrichmentTP531.71
577Hodgkin's lymphomaEnrichmentTP531.71
578Pleomorphic rhabdomyosarcomaEnrichmentTP531.71
579Autoinflammatory diseaseEnrichmentIL1RN, IL36RN1.68
580Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.68
581MalariaEnrichmentNOS2, TNF1.68
582Spastic ataxiaEnrichmentCACNA1G, CACNB4, PLA2G61.68
583Pulmonary hypertension, primary, 1EnrichmentACVRL1, BMPR21.67
584Alzheimer's diseaseEnrichmentCSF1R, TNF1.67
585Rare genetic intellectual disabilityEnrichmentCREBBP, EP3001.66
586Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB1.65
587Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.65
588Costello syndromeEnrichmentHRAS1.64
589Immunodeficiency 33EnrichmentIKBKG1.64
590Noonan syndrome 12EnrichmentRRAS21.64
591Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.64
592Rela fusion-positive ependymomaEnrichmentRELA1.64
593Bilateral generalized polymicrogyriaEnrichmentGRIN11.64
594Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.64
595Developmental and epileptic encephalopathy 46EnrichmentGRIN2D1.64
596Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.64
597Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.64
598Tafro syndromeEnrichmentMAP2K21.64
599Epilepsy-aphasia spectrumEnrichmentGRIN2A1.64
600Wooly hair nevusEnrichmentHRAS1.64
601Spinocerebellar ataxia 17EnrichmentTBP1.61
602Birk-aharoni syndromeEnrichmentPSMC11.61
60317q24.2 microdeletion syndromeEnrichmentPSMD121.61
604Blepharophimosis - intellectual disability syndromeEnrichmentUBE3B1.61
605Multifocal pattern dystrophy simulating fundus flavimaculatusEnrichmentUBR21.61
606Angelman syndrome due to maternal 15q11q13 deletionEnrichmentUBE3A1.61
607Submucosal cleft palateEnrichmentUBB1.61
608Cleft hard palateEnrichmentUBB1.61
609Primary ovarian insufficiencyEnrichmentBMP6, KDR, NOS3, NTRK11.59
610Van der woude syndrome 1EnrichmentCACNA1E1.57
611Takayasu arteritisEnrichmentIL12B1.57
612Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.57
613Severe combined immunodeficiency, x-linkedEnrichmentIL2RG1.57
614Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.57
615Combined immunodeficiency, x-linkedEnrichmentIL2RG1.57
616Transposition of the great arteries, dextro-loopedEnrichmentBMP21.57
617Agammaglobulinemia 1EnrichmentBTK1.57
618T-cell acute lymphoblastic leukemiaEnrichmentBAX1.57
619High bone mass osteogenesis imperfectaEnrichmentBMP11.57
620Thyrotoxic periodic paralysisEnrichmentCACNA1S1.57
621Vogt-koyanagi-harada diseaseEnrichmentFAS1.57
622Hereditary episodic ataxiaEnrichmentCACNA1A1.57
623Tuberous sclerosis 1EnrichmentIFNG1.56
624Tuberous sclerosis 2EnrichmentIFNG1.56
625Migraine without auraEnrichmentTNF1.56
626Immunodeficiency, common variable, 11EnrichmentIL211.56
627Syndromic intellectual disabilityEnrichmentMED16, TAF61.56
628Brittle bone disorderEnrichmentBMP1, SERPINF11.55
629Cleft lip/palateEnrichmentBMP4, PDGFRA1.55
630Type 1 diabetes mellitus 2EnrichmentINS1.55
631Inflammatory bowel disease 25EnrichmentIL10RB1.55
632Laryngeal squamous cell carcinomaEnrichmentTNFRSF10B1.55
633Melanoma of soft tissueEnrichmentCREB11.55
634Osteogenic sarcomaEnrichmentTP531.54
635Atypical teratoid rhabdoid tumorEnrichmentTP531.54
636Anaplastic astrocytomaEnrichmentTP531.54
637Squamous cell carcinomaEnrichmentTP531.54
638AdenocarcinomaEnrichmentTP531.54
639Bone osteosarcomaEnrichmentTP531.54
640Burkitt lymphomaEnrichmentMYC1.53
641Scoliosis, isolated 1EnrichmentMAPK71.53
642Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.53
643Houge-janssens syndrome 1EnrichmentPPP2R5D1.53
644Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.53
645Cebalid syndromeEnrichmentMTOR1.53
646Smith-kingsmore syndromeEnrichmentMTOR1.53
647Houge-janssens syndrome 3EnrichmentPPP2CA1.53
648Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD3, SMAD4, TGFBR11.52
649Alopecia, androgenetic, 1EnrichmentSMARCD11.51
650Myhre syndromeEnrichmentSMAD41.51
651Specific granule deficiency 1EnrichmentSMARCD21.51
652Thumb deformityEnrichmentCREBBP1.51
653Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.51
654Loeys-dietz syndrome 2EnrichmentTGFBR11.51
655Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.51
656Schwannomatosis 1EnrichmentSMARCB11.51
657Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.51
658Syndactyly, type iiiEnrichmentHDAC81.51
659Loeys-dietz syndrome 3EnrichmentSMAD31.51
660Intellectual developmental disorder, autosomal dominant 73EnrichmentTAF41.51
661Specific granule deficiency 2EnrichmentSMARCD21.51
662Coffin-siris syndrome 8EnrichmentSMARCC21.51
663Menke-hennekam syndrome 2EnrichmentEP3001.51
664Wilson-turner syndromeEnrichmentHDAC81.51
665Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.51
666Otosclerosis 12EnrichmentSMARCA41.51
667Coffin-siris syndrome 4EnrichmentSMARCA41.51
668Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.51
669Specific granule deficiencyEnrichmentSMARCD21.51
670HydrocephalusEnrichmentFGFR2, PDGFRB1.49
671Long qt syndromeEnrichmentCACNA1C, CACNA1S1.49
672Ataxia-telangiectasiaEnrichmentBRAF1.47
673Osteogenesis imperfecta, type viEnrichmentSERPINF11.47
674Auditory neuropathy and optic atrophyEnrichmentGRIN2C1.47
675Tethered spinal cord syndromeEnrichmentBRAF1.47
676Blue rubber bleb nevusEnrichmentTEK1.45
677Familial expansile osteolysisEnrichmentTNFRSF11A1.45
678Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A1.45
679Immunodeficiency, common variable, 2EnrichmentTNFRSF13B1.45
680Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR21.45
681West nile virusEnrichmentCCR51.45
682Immunodeficiency with hyper-igm, type 2EnrichmentTNFRSF13B1.45
683Neutrophilia, hereditaryEnrichmentCSF3R1.45
684Thrombocythemia 3EnrichmentJAK21.45
685Immunodeficiency 51EnrichmentIL17RA1.45
686Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B1.45
687Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentCSF3R1.45
688Lymphatic malformation 11EnrichmentTIE11.45
689Pulmonary venoocclusive disease 1EnrichmentBMPR21.45
690Primary cutaneous amyloidosisEnrichmentOSMR1.45
691Childhood hepatocellular carcinomaEnrichmentMET1.45
692Papillary renal cell carcinomaEnrichmentMET1.45
693Severe congenital neutropenia 7EnrichmentCSF3R1.45
694PolycythemiaEnrichmentJAK21.45
695Hereditary mixed polyposis syndromeEnrichmentBMPR1A1.45
696Lymphomatoid papulosisEnrichmentTYK21.45
697Hypereosinophilic syndromeEnrichmentJAK21.45
698Pulmonary venoocclusive diseaseEnrichmentBMPR21.45
699Juvenile polyposis of infancyEnrichmentBMPR1A1.45
700Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR21.45
701Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK21.45
702Kaposi sarcomaEnrichmentIL61.44
703Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.44
704Spinocerebellar ataxia 6EnrichmentCACNA1A1.44
705Microtia-anotiaEnrichmentBMP51.44
706Aland island eye diseaseEnrichmentCACNA1F1.44
707Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.44
708Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.44
709Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.44
710Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.44
711Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.44
712Malignant hyperthermiaEnrichmentCACNA1S1.44
713Episodic ataxiaEnrichmentCACNA1A1.44
714Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.44
715Inherited epidermodysplasia verruciformisEnrichmentIL71.44
716Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT11.44
717RhabdomyosarcomaEnrichmentALK, HRAS1.44
718Cerebral malariaEnrichmentTNF1.44
719Pediatric systemic lupus erythematosusEnrichmentSPP11.44
720Uvula, bifidEnrichmentUBB1.43
721Cleft soft palateEnrichmentUBB1.43
722Thyroid hemiagenesisEnrichmentPSMD31.43
723Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentUBE3A1.43
724Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.43
725Autosomal recessive osteopetrosisEnrichmentTNFSF111.43
726Neonatal diabetes mellitusEnrichmentINS1.43
727Hepatitis bEnrichmentIL10RB1.43
728Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.42
729Fibromatosis, gingival, 1EnrichmentSOS11.42
730Pseudohypoparathyroidism, type iaEnrichmentGNAS1.42
731Aganglionosis, total intestinalEnrichmentEDNRB1.42
732Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.42
733Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.42
734Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.42
735Cutis marmorata telangiectatica congenitaEnrichmentGNA111.42
736Abcd syndromeEnrichmentEDNRB1.42
737Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.42
738PseudopseudohypoparathyroidismEnrichmentGNAS1.42
739Piebald traitEnrichmentKIT1.42
740Aural atresia, congenitalEnrichmentFGFR21.42
741Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD31.42
742Keratosis, seborrheicEnrichmentFGFR31.42
743Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.42
744Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.42
745Infantile myofibromatosisEnrichmentPDGFRB1.42
746Spinocerebellar ataxia 46EnrichmentPLD31.42
747Split hand-foot malformationEnrichmentFGFR21.42
748Rosette-forming glioneuronal tumorEnrichmentFGFR11.42
749Autosomal dominant hypocalcemiaEnrichmentGNA111.42
750PseudohypoparathyroidismEnrichmentGNAS1.42
751Congenital mesoblastic nephromaEnrichmentNTRK31.42
752Ocular melanomaEnrichmentPLCB41.42
753FibrosarcomaEnrichmentNTRK31.42
754HypopituitarismEnrichmentGNAI21.42
755Retinitis pigmentosa 38EnrichmentMERTK1.42
756Acute myeloid leukemia without maturationEnrichmentFLT31.42
757Interfrontal craniofaciosynostosisEnrichmentFGFR11.42
758Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.42
759Chronic eosinophilic leukemiaEnrichmentPDGFRA1.42
760Charcot-marie-tooth disease type 4fEnrichmentPLD31.42
761Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.42
762B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.42
763Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.42
764B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.42
765Phakomatosis cesioflammeaEnrichmentGNA111.42
766Small cell cancer of the lungEnrichmentTP531.41
767Thyroid cancer, nonmedullary, 1EnrichmentTP531.41
768Congenital generalized lipodystrophyEnrichmentFOS1.41
769Lung sarcomatoid carcinomaEnrichmentTP531.41
770Embryonal rhabdomyosarcomaEnrichmentTP531.41
771Eye diseaseEnrichmentCACNA1F, CACNA2D41.39
772Alzheimer disease, familial, 1EnrichmentCSF1R, NOS31.39
773Hypertension, essentialEnrichmentECE1, NOS31.39
774Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.39
775Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D21.37
776Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.36
777Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.36
778Immune thrombocytopeniaEnrichmentSOCS11.36
779Stuve-wiedemann syndrome 1EnrichmentIL6ST1.36
780Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.36
781Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.36
782Hyper ige syndromeEnrichmentSTAT31.36
783Immunodeficiency 14EnrichmentPIK3R11.36
784Stüve-wiedemann syndromeEnrichmentIL6ST1.36
785Episodic ataxia, type 2EnrichmentCACNA1A1.35
786Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT21.35
787Congenital heart defects, multiple types, 4EnrichmentBMP71.35
788Follicular lymphomaEnrichmentBCL21.35
789Heart conduction diseaseEnrichmentCACNA1C1.35
790AmblyopiaEnrichmentCACNA1F1.35
791Cardiac arrestEnrichmentCACNA2D11.35
792Congenital short qt syndromeEnrichmentCACNA2D11.35
793Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.35
794AstigmatismEnrichmentGRIN2B1.35
795Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.35
796CraniopharyngiomaEnrichmentBRAF1.35
797Pilocytic astrocytomaEnrichmentKRAS1.35
798Newborn respiratory distress syndromeEnrichmentBRAF1.35
799Epidermolytic nevusEnrichmentHRAS1.35
800Vascular dementiaEnrichmentTNF1.34
801Idiopathic aplastic anemiaEnrichmentIFNG1.34
802Juvenile polyposis syndromeEnrichmentSMAD41.34
803Intellectual developmental disorder, autosomal dominant 61EnrichmentMED131.34
804Coffin-siris syndrome 2EnrichmentARID1A1.34
805Loeys-dietz syndrome 1EnrichmentTGFBR11.34
806Intraocular pressure quantitative trait locusEnrichmentCREBBP1.34
807Periventricular leukomalaciaEnrichmentARID1A1.34
808SchwannomatosisEnrichmentSMARCB11.34
809Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.34
810Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.34
811Rhabdomyosarcoma 2EnrichmentTP531.32
812LymphomaEnrichmentTP531.32
813Histiocytoid hemangiomaEnrichmentFOS1.32
814Acute megakaryocytic leukemiaEnrichmentTP531.32
815Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.31
816Cerebral palsyEnrichmentCACNA1A, CACNA1C1.31
817West syndromeEnrichmentGNAO1, NTRK2, PLCB11.29
818Brachydactyly, type a1EnrichmentBMPR1B1.28
819Brachydactyly, type cEnrichmentBMPR1B1.28
820Acromesomelic dysplasia 2aEnrichmentBMPR1B1.28
821Acromesomelic dysplasia 2cEnrichmentBMPR1B1.28
822Acromesomelic dysplasia 2bEnrichmentBMPR1B1.28
823DysosteosclerosisEnrichmentTNFRSF11A1.28
824Polycythemia veraEnrichmentJAK21.28
825Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.28
826Adult-onset myasthenia gravisEnrichmentTNFRSF11A1.28
827Renal cell carcinomaEnrichmentMET1.28
828Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR21.28
829Atrial septal defect 1EnrichmentBMP21.27
830Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.27
831Anterior segment dysgenesis 5EnrichmentBMP41.27
832Childhood absence epilepsyEnrichmentCACNA1H1.27
833Inherited cancer-predisposing syndromeEnrichmentCEBPA, SMAD4, SMARCA4, SMARCB1, SMARCE11.26
834Autosomal dominant secondary polycythemiaEnrichmentEPO1.26
835CraniosynostosisEnrichmentFGFR2, FGFR31.26
836Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.25
837Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.25
838Sleep disorderEnrichmentGRIN2B1.25
839AchondroplasiaEnrichmentFGFR31.25
840Mccune-albright syndromeEnrichmentGNAS1.25
841Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.25
842Larsen syndromeEnrichmentFGFR31.25
843Thyroid carcinoma, familial medullaryEnrichmentNTRK11.25
844Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD11.25
845Hirschsprung disease 2EnrichmentEDNRB1.25
846Nuchal bleb, familialEnrichmentSOS11.25
847Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.25
848Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.25
849Primary polycythemiaEnrichmentEPOR1.25
850Bronchopulmonary dysplasiaEnrichmentMUSK1.25
851HamartomaEnrichmentFGFR31.25
852Lymphatic malformation 7EnrichmentEPHB41.25
853Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.25
854Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.25
855Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.25
856Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.25
857Mixed phenotype acute leukemia with tEnrichmentFLT31.25
858Testicular cancerEnrichmentFGFR31.25
859Cerebral sinovenous thrombosisEnrichmentF21.25
860Li-fraumeni syndromeEnrichmentTP531.24
861Adrenocortical carcinomaEnrichmentTP531.24
862Anemia, autoimmune hemolyticEnrichmentSOCS11.24
863Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.24
864Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.24
865Focal cortical dysplasia, type iiEnrichmentMTOR1.24
866Adenosine deaminase deficiencyEnrichmentJAK31.24
867Isolated focal cortical dysplasia type iiEnrichmentMTOR1.24
868Isolated growth hormone deficiency, type iiEnrichmentMED131.22
869Nicolaides-baraitser syndromeEnrichmentSMARCA21.22
870BlepharophimosisEnrichmentSMARCA21.22
871Smarca2-related nicolaides-baraitser syndromeEnrichmentSMARCA21.22
872Full schwannomatosisEnrichmentSMARCB11.22
873Brugada syndrome 1EnrichmentCACNA2D11.21
874Squamous cell carcinoma, head and neckEnrichmentTNFRSF10B1.19
875Hepatocellular carcinomaEnrichmentCASP8, MET1.19
876Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.18
877Wilms tumor 5EnrichmentBRAF1.18
878Esophageal cancerEnrichmentTP531.18
879Essential thrombocythemiaEnrichmentTP531.18
880B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.18
881Erythrocytosis, familial, 1EnrichmentJAK21.16
882Hemophilia aEnrichmentACVRL11.16
883Budd-chiari syndromeEnrichmentJAK21.16
884Paget disease of bone 2, early-onsetEnrichmentTNFRSF11A1.16
885Glaucoma 3, primary infantile, bEnrichmentTEK1.16
886Immunodeficiency, common variable, 1EnrichmentTNFRSF13B1.16
887Lymphoproliferative syndrome 2EnrichmentCD271.16
888Factor viii deficiencyEnrichmentACVRL11.16
889Paget's disease of bone 2EnrichmentTNFRSF11A1.16
890Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT3, MYC1.15
891Lennox-gastaut syndromeEnrichmentCACNA1A1.15
892Alternating hemiplegia of childhoodEnrichmentCACNA1A1.15
893Difference of sex developmentEnrichmentCACNA1A1.15
894Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.15
895HemimegalencephalyEnrichmentMTOR1.15
896Angelman syndromeEnrichmentUBE3A1.14
897Developmental dysplasia of the hip 1EnrichmentPSMC31.14
898Patent ductus arteriosusEnrichmentPSMC31.14
899Narcolepsy 1EnrichmentTNFSF41.14
900Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.13
901Permanent neonatal diabetes mellitusEnrichmentINS1.13
902Pseudohypoparathyroidism, type ibEnrichmentGNAS1.13
903CholangiocarcinomaEnrichmentROS11.13
904Barrett esophagusEnrichmentERBB21.13
905Developmental and epileptic encephalopathy 12EnrichmentPLCB11.13
906Chronic myelomonocytic leukemiaEnrichmentFLT31.13
907Hereditary ataxiaEnrichmentPRKCG1.13
908Idiopathic achalasiaEnrichmentNOS11.13
909Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.13
910Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.13
911Gingival fibromatosisEnrichmentSOS11.13
912Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.13
913Chondrosarcoma, extraskeletal myxoidEnrichmentTAF151.12
914Rubinstein-taybi syndrome 2EnrichmentEP3001.12
915Inherited acute myeloid leukemiaEnrichmentCEBPA1.12
916Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.12
917Glioma susceptibility 1EnrichmentTP531.12
918EpilepsyEnrichmentGRIN2A, GRIN2B1.12
919Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF1.11
920Rheumatoid arthritisEnrichmentIL101.10
921Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.10
922Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A1.10
923Adult hepatocellular carcinomaEnrichmentTP531.07
924Myeloproliferative neoplasmEnrichmentJAK21.07
925Diffuse cutaneous systemic sclerosisEnrichmentCCR61.07
926Centralopathic epilepsyEnrichmentGRIN1, GRIN2A1.06
927Primary autosomal recessive microcephalyEnrichmentANGPT2, TAF131.06
928Peters-plus syndromeEnrichmentBMP41.06
929Stickler syndromeEnrichmentBMP41.06
930Aplastic anemiaEnrichmentIFNG1.05
931Fraser syndrome 1EnrichmentGRIP11.05
932Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentHELLS1.05
933HypertrichosisEnrichmentCREBBP1.05
934Classic ehlers-danlos syndromeEnrichmentTGFBR11.05
935Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentEDNRB, HGF, MET, ROR11.05
936Ciliary dyskinesia, primary, 3EnrichmentNFKB11.05
937Hereditary breast carcinomaEnrichmentAKT1, KRAS1.05
938Cataract 6, multiple typesEnrichmentEPHA21.04
939Capillary malformations, congenitalEnrichmentGNA111.04
940Alzheimer disease 2EnrichmentNOS31.04
941Robinow syndrome, autosomal recessive 1EnrichmentROR21.04
942Insulin-like growth factor iEnrichmentIGF1R1.04
943Night blindness, congenital stationary, type 1cEnrichmentGNAT11.04
944HoloprosencephalyEnrichmentFGFR11.04
945AniridiaEnrichmentEPHA21.04
946Leukemia, chronic lymphocyticEnrichmentTP531.03
947Migraine with or without aura 1EnrichmentCACNA1A1.02
948Epilepsy, myoclonic juvenileEnrichmentCACNB41.02
949Epilepsy, idiopathic generalizedEnrichmentCACNA1H1.02
950IchthyosisEnrichmentIL2RB1.02
951Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.01
952Coronary heart disease 5EnrichmentIKBKG1.01
953Cowden syndromeEnrichmentAKT11.01
954Specific learning disabilityEnrichmentMAPK11.01
955Renal cell carcinoma, papillary, 1EnrichmentMTOR1.01
956Diabetes mellitusEnrichmentINS1.00
957Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL10.99
958Limited sclerodermaEnrichmentCCR60.99
959Myelodysplastic syndromeEnrichmentTP530.99
960Multiple endocrine neoplasia, type iEnrichmentCDKN1A0.99
961Hereditary hemorrhagic telangiectasiaEnrichmentSMAD40.99
962Congenital hydrocephalusEnrichmentSMARCC10.99
963Cardiac conduction defectEnrichmentCACNA1C0.98
96446 xx gonadal dysgenesisEnrichmentBMP150.98
965Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C, PPARGC1A0.98
966Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.97
967Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.97
968Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.97
969MelanomaEnrichmentBRAF0.96
970Cowden syndrome 1EnrichmentEGFR0.96
971Split-hand/foot malformation 1EnrichmentFGFR20.96
972Holoprosencephaly 1EnrichmentFGFR10.96
973Waardenburg syndrome, type 4aEnrichmentEDNRB0.96
974Inflammatory myofibroblastic tumorEnrichmentALK0.96
975Autosomal recessive robinow syndromeEnrichmentROR20.96
976Waardenburg syndromeEnrichmentEDNRB0.96
977Fanconi anemia, complementation group cEnrichmentHDAC80.93
978Ewing sarcomaEnrichmentSMARCA50.93
979NeuroblastomaEnrichmentSMARCA40.93
980PolymicrogyriaEnrichmentPSMC30.93
981Glaucoma 3, primary congenital, aEnrichmentTEK0.93
982Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.91
983Multiple sclerosisEnrichmentTNFRSF1A0.90
984Thrombophilia due to thrombin defectEnrichmentF20.90
985Waardenburg syndrome, type 2eEnrichmentEDNRB0.90
986BrachydactylyEnrichmentGNAS0.90
987Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D40.89
988MyopiaEnrichmentCACNA1F0.89
989Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.88
990Arthrogryposis, distal, type 1aEnrichmentMET0.87
991Severe congenital neutropeniaEnrichmentCSF3R0.87
992Microphthalmia/coloboma 12EnrichmentRARB0.87
993Acute promyelocytic leukemiaEnrichmentRARA0.87
994Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.86
995Osteogenesis imperfecta, type ivEnrichmentSERPINF10.86
996Protein-deficiency anemiaEnrichmentNRAS0.86
997Basal ganglia calcification, idiopathic, 1EnrichmentPDGFRB0.85
998Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.85
999Choreatic diseaseEnrichmentGNAO10.85
1000Early-onset posterior polar cataractEnrichmentEPHA20.85
1001Marfan syndromeEnrichmentTGFBR10.84
1002Tooth agenesis, selective, 1EnrichmentBMPR20.83
1003Leukemia, acute lymphoblastic 3EnrichmentJAK20.83
1004Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R0.83
1005Sudden infant death syndromeEnrichmentCALM20.82
1006Coloboma of maculaEnrichmentRARB0.81
1007Heart, malformation ofEnrichmentMAPK10.81
1008Fetal akinesia deformation sequence 1EnrichmentMUSK, ROR20.81
1009Pectus excavatumEnrichmentTGFBR10.80
1010Wilms tumor 1EnrichmentBRAF0.80
1011Lynch syndromeEnrichmentKRAS0.80
1012Developmental and epileptic encephalopathy 14EnrichmentPLCB10.80
1013Hypogonadotropic hypogonadismEnrichmentFGFR10.80
1014Congenital myopathyEnrichmentCACNA1S0.80
1015Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.78
1016Septooptic dysplasiaEnrichmentARID1A0.77
1017Maturity-onset diabetes of the youngEnrichmentINS0.76
1018Meier-gorlin syndrome 1EnrichmentFGFR20.76
1019Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMUSK0.76
1020AchromatopsiaEnrichmentGNAT20.76
1021Primary bone dysplasiaEnrichmentFGFR30.76
1022Cardiomyopathy, dilated, 1aEnrichmentNFATC20.76
1023Centronuclear myopathyEnrichmentCACNA1S0.76
1024Melanoma, cutaneous malignant 1EnrichmentBRAF0.75
1025Immune deficiency diseaseEnrichmentCD270.75
1026Frontotemporal dementia 1EnrichmentCSF1R0.75
1027Familial colorectal cancer type xEnrichmentBMPR1A0.75
1028Hypercholesterolemia, familial, 1EnrichmentSMARCA40.74
1029Early infantile developmental and epileptic encephalopathyEnrichmentGRIN10.73
1030HepatoblastomaEnrichmentTP530.73
1031Leukemia, acute lymphoblasticEnrichmentFLT30.72
1032OsteochondrodysplasiaEnrichmentFGFR30.72
1033Movement diseaseEnrichmentGNAO10.72
1034EpicanthusEnrichmentACVR10.71
1035Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.71
1036Heart diseaseEnrichmentCREBBP0.71
1037Pituitary stalk interruption syndromeEnrichmentSMARCA20.71
1038Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C0.70
1039Cone dystrophyEnrichmentCACNA2D40.70
1040Renal cell carcinoma, nonpapillaryEnrichmentMTOR0.70
1041Patent foramen ovaleEnrichmentPSMC30.69
1042Diamond-blackfan anemia 1EnrichmentTP530.69
1043Postsynaptic congenital myasthenic syndromesEnrichmentMUSK0.69
1044Polydactyly, postaxial, type a1EnrichmentEP3000.68
1045Corpus callosum, agenesis ofEnrichmentCREBBP0.68
1046Atypical hemolytic-uremic syndromeEnrichmentSMARCAL10.68
1047Familial hypercholesterolemiaEnrichmentSMARCA40.68
1048Isolated corpus callosum agenesisEnrichmentCREBBP0.68
1049Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.68
1050ThrombocytopeniaEnrichmentACVRL1, SRC0.68
1051Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.67
1052Parkinson's diseaseEnrichmentTBP0.67
1053Auditory neuropathyEnrichmentCACNA1A0.67
1054MicrophthalmiaEnrichmentRARB0.66
1055Pancreatic cancerEnrichmentTP530.66
1056StrabismusEnrichmentCACNA1A0.66
1057Aortic valve disease 1EnrichmentSOS10.66
1058Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.66
1059Isolated congenital microcephalyEnrichmentSMARCAL10.66
1060OsteoporosisEnrichmentSRC0.65
1061Dilated cardiomyopathyEnrichmentBRAF, RAF10.63
1062Cleft palate, isolatedEnrichmentSMARCA40.63
1063Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.63
1064CataractEnrichmentEPHA20.63
106546,xy partial gonadal dysgenesisEnrichmentSOS10.63
1066ScoliosisEnrichmentGRIN2B0.62
1067Severe covid-19EnrichmentIL10RB0.62
1068Polycystic kidney diseaseEnrichmentHDAC80.61
1069Prostate cancerEnrichmentTP530.60
1070Developmental and epileptic encephalopathy 1EnrichmentGRIN10.60
1071Ehlers-danlos syndromeEnrichmentSMAD30.59
1072Cystic fibrosisEnrichmentTGFB10.59
1073Parkinson disease, late-onsetEnrichmentTBP0.58
1074Polycystic liver diseaseEnrichmentCDC25A0.58
1075Autosomal dominant polycystic liver diseaseEnrichmentCDC25A0.58
1076Microform holoprosencephalyEnrichmentFGFR10.58
1077Lobar holoprosencephalyEnrichmentFGFR10.58
1078Focal segmental glomerulosclerosisEnrichmentSMARCAL10.57
1079Cataract 44EnrichmentEPHA20.55
1080Tooth agenesisEnrichmentSUMO10.54
1081Charcot-marie-tooth disease type 4EnrichmentPLD30.53
1082Semilobar holoprosencephalyEnrichmentFGFR10.53
1083Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.53
1084Early-onset nuclear cataractEnrichmentEPHA20.53
1085Diamond-blackfan anemiaEnrichmentTP530.52
1086Peripheral nervous system diseaseEnrichmentNGF0.51
1087NeuropathyEnrichmentNGF0.51
1088Familial hypertrophic cardiomyopathyEnrichmentRAF10.50
1089Visceral heterotaxyEnrichmentACVR2B0.49
1090Congenital nervous system abnormalityEnrichmentCACNA1A, PLA2G60.48
1091Nervous system diseaseEnrichmentCACNA1A, PLA2G60.48
1092Left ventricular noncompactionEnrichmentRAF10.48
1093Endometrial cancerEnrichmentFGFR20.48
1094Optic atrophy plus syndromeEnrichmentCACNA1F0.48
1095Autism spectrum disorderEnrichmentGRIN2B, MAP2K10.45
1096Kallmann syndromeEnrichmentFGFR10.45
1097Sensorineural hearing lossEnrichmentHGF0.44
1098Connective tissue diseaseEnrichmentSMAD30.41
1099Hereditary breast ovarian cancer syndromeEnrichmentTP530.38
1100Non-syndromic x-linked intellectual disabilityEnrichmentSMARCA10.37
1101Body mass index quantitative trait locus 11EnrichmentBDNF0.36
1102CakutEnrichmentLIFR0.34
1103Familial isolated dilated cardiomyopathyEnrichmentRAF10.34
1104Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIN10.31
1105Nephrotic syndromeEnrichmentSMARCAL10.31
1106DystoniaEnrichmentGNAL0.31
1107Charcot-marie-tooth diseaseEnrichmentPLD30.26
1108Distal arthrogryposisEnrichmentROR20.26
1109Complex neurodevelopmental disorderEnrichmentMED13, TAF40.24
1110Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D40.24
1111HypertelorismEnrichmentFGFR20.20
1112AutismEnrichmentCREBBP0.17
1113Deafness, autosomal recessiveEnrichmentEDNRB0.15
1114Autosomal recessive nonsyndromic deafnessEnrichmentEDNRB0.15
1115Hereditary retinal dystrophyEnrichmentCACNA1F, CACNA2D40.13
1116Fundus dystrophyEnrichmentCACNA1F, CACNA2D40.13
1117Rare genetic deafnessEnrichmentEDNRB0.11

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