Akt Signaling

Pathway network for the Akt Signaling SuperPath

Sources:
  • QIAGEN

Pathways in the Akt Signaling SuperPath

#NameSourceGenes
1Akt SignalingQIAGEN
(see all 514) (see less)
2p38 SignalingQIAGEN
(see all 480) (see less)
3Tec Kinases SignalingQIAGEN
(see all 406) (see less)

Gene overlap in member pathways for Akt Signaling SuperPath

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

Disorders associated with Akt Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CX3CR1, CXCL12, CXCR1, IL10, IL1916.00
2Behcet syndromeEnrichmentCCR1, FAS, IL10, IL12A, IL23R, STAT4, TLR4, TNFRSF1A7.47
3Bladder cancerEnrichmentCDKN1A, EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, PTEN, TP53, TSC17.23
4Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, RIPK1, TGFB16.50
5Noonan syndrome 1EnrichmentHRAS, KRAS, MRAS, NRAS, RRAS, RRAS2, SOS1, SOS26.15
6Ovarian cancerEnrichmentAKT1, ALK, AR, BMPR1A, CDKN1B, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, PTEN, RRAS2, TP53, TSC25.93
7Lung cancer susceptibility 3EnrichmentEGFR, ERBB2, FGF10, KRAS, ROS1, TP535.35
8Lung cancerEnrichmentALK, EGFR, ERBB2, FAS, FASLG, KRAS, MAP3K8, MET4.94
9Lung non-small cell carcinomaEnrichmentEGFR, ERBB2, HRAS, KRAS, NRAS4.68
10Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR3, KRAS4.66
11RasopathyEnrichmentHRAS, KRAS, MRAS, NRAS, RRAS2, SOS1, SOS24.61
12Oligoarticular juvenile idiopathic arthritisEnrichmentCD247, IL2RA, IL2RB, STAT44.59
13Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD247, IL2RA, IL2RB, STAT44.59
14Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR34.57
15Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT34.57
16T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E4.57
17Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS4.30
18HamartomaEnrichmentFGFR3, TSC1, TSC24.27
19Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TNFRSF10B, TP534.19
20Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS, NTRK2, RAF14.19
21Brachydactyly, type a2EnrichmentBMP2, BMPR1B, GDF53.98
22Autoimmune lymphoproliferative syndromeEnrichmentACTA2, FAS, FASLG3.98
23Melanocytic nevus syndrome, congenitalEnrichmentALK, HRAS, NRAS, RAF13.90
24Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, IL7R, LCK, ZAP703.89
25Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS3.77
26Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND2, PIK3R23.68
27Focal cortical dysplasia, type iiEnrichmentMTOR, TSC1, TSC23.68
28Isolated focal cortical dysplasia type iiEnrichmentMTOR, TSC1, TSC23.68
29GliomaEnrichmentFGFR2, NTRK3, PTEN3.68
30Adult hepatocellular carcinomaEnrichmentEGF, TP53, TSC1, TSC23.66
31Myeloma, multipleEnrichmentCCND1, FGFR3, FLT3, IL7R, KRAS, MST1R, PIK3R2, TP53, YAP13.63
32Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, ROS1, TP533.63
33Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB3.59
34Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA, FLT3, KIT3.38
35Colorectal cancerEnrichmentAKT1, BAX, CCND1, ERBB2, FGFR2, FGFR3, IGF2, MET, NRAS, PIK3R1, TP533.37
36Differentiated thyroid carcinomaEnrichmentALK, HRAS, KRAS, NRAS, NTRK1, NTRK33.35
37Chronic mucocutaneous candidiasisEnrichmentIL17RA, IL17RC, STAT13.30
38Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB33.30
39HemimegalencephalyEnrichmentAKT3, MTOR, PTEN3.29
40Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, KIT, TP533.21
41Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG3.09
42Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB, RIPK1, TGFB13.09
43Pfeiffer syndromeEnrichmentFGFR1, FGFR23.05
44Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.05
45Fibrodysplasia ossificans progressivaEnrichmentACVR1, BMPR23.05
46Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.05
47Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.05
48Systemic lupus erythematosusEnrichmentIL10, IRAK1, ITGAM, STAT4, TLR7, TNF3.01
49Breast adenocarcinomaEnrichmentAKT1, KRAS, TP533.00
50Childhood absence epilepsyEnrichmentGABRA1, GABRB3, GABRG23.00
51Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS12.97
52Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS12.97
53Lymphatic malformation 1EnrichmentEPHB4, FLT42.90
54Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT42.90
55Cervical cancerEnrichmentFGFR3, TP532.90
56Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS2.90
57Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS2.90
58Angioma, tuftedEnrichmentGNA14, KDR2.90
59Cervix carcinomaEnrichmentFGFR3, TP532.90
60Hereditary lymphedema iEnrichmentEPHB4, FLT42.90
61Noonan syndrome 3EnrichmentHRAS, KRAS, SOS12.86
62Common variable immunodeficiencyEnrichmentCD40LG, NFKB1, TNFRSF13B2.86
63LymphangioleiomyomatosisEnrichmentTSC1, TSC22.84
64Juvenile polyposis of infancyEnrichmentBMPR1A, PTEN2.84
65Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, SOS12.81
66Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS, PTEN2.77
67Follicular thyroid carcinomaEnrichmentHRAS, NRAS, PTEN2.77
68Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS12.76
69Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH12.76
70GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, TP532.70
71RhabdomyosarcomaEnrichmentALK, HRAS, PTEN, TP532.59
72Leukemia, acute myeloidEnrichmentCEBPA, FLT3, KIT, KRAS, NRAS, TP532.58
73Brachydactyly, type a1EnrichmentBMPR1B, GDF52.58
74Crouzon syndromeEnrichmentFGFR2, FGFR32.58
75Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB3, STAT32.58
76Brachydactyly, type cEnrichmentBMPR1B, GDF52.58
77Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB32.58
78Acromesomelic dysplasia 2aEnrichmentBMPR1B, GDF52.58
79Acromesomelic dysplasia 2cEnrichmentBMPR1B, GDF52.58
80Acromesomelic dysplasia 2bEnrichmentBMPR1B, GDF52.58
81Mycosis fungoidesEnrichmentCD28, TNFRSF1B2.58
82Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG, TLR82.58
83Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R12.58
84Anastomosing haemangiomaEnrichmentGNA11, GNA142.58
85Saczary syndromeEnrichmentCD28, TNFRSF1B2.58
86Loeys-dietz syndromeEnrichmentTGFB2, TGFB3, TGFBR12.50
87Arteriovenous malformationEnrichmentEPHB4, HRAS, TEK2.50
88Psoriatic arthritisEnrichmentLTA, TNF2.44
89Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.44
90Testicular germ cell cancerEnrichmentFGFR3, KIT2.44
91SpermatocytomaEnrichmentFGFR3, HRAS2.44
92AsthmaEnrichmentCCL11, IL13, TNF2.44
93Heritable pulmonary arterial hypertensionEnrichmentACVRL1, BMPR2, GDF22.44
94Arteriovenous malformations of the brainEnrichmentEGFR, IL6, KRAS, TIMP32.41
95Tuberous sclerosis 1EnrichmentTSC1, TSC22.38
96Laryngeal squamous cell carcinomaEnrichmentPTEN, TNFRSF10B2.38
97Non-immune hydrops fetalisEnrichmentANGPT2, EPHB4, FLT4, HRAS, KRAS2.37
98Marfan syndromeEnrichmentLTBP2, TGFB2, TGFBR12.36
99Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, TEK2.36
100Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A2.35
101Type 2 diabetes mellitusEnrichmentAKT2, IL6, INSR, IRS1, MAPK8IP1, SLC2A42.33
102Undetermined early-onset epileptic encephalopathyEnrichmentFGF12, GABRA2, GABRA5, GABRB2, GABRG2, NTRK2, YWHAG2.30
103Diffuse large b-cell lymphomaEnrichmentBTK, FOXO1, PTEN, TP532.30
104Erythrocytosis, familial, 1EnrichmentEPOR, JAK22.29
105Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK2.29
106Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.29
107Multiple synostoses syndromeEnrichmentGDF5, GDF62.29
108Pediatric systemic lupus erythematosusEnrichmentIRAK1, STAT42.29
109Gastric cancerEnrichmentERBB2, FGFR2, IL1B, KRAS, PTEN, TP532.27
110Combined immunodeficiencyEnrichmentCD27, IL2RG, ZAP702.23
111Combined t cell and b cell immunodeficiencyEnrichmentCD27, IL2RG, ZAP702.23
112Combined t and b cell immunodeficiencyEnrichmentCD27, IL2RG, ZAP702.23
113Pulmonary hypertension, primary, 1EnrichmentACVRL1, BMPR2, GDF22.22
114Nk-cell enteropathyEnrichmentERBB4, IGF1R, JAK32.22
115Glycogen storage diseaseEnrichmentGYS1, GYS2, PFKM2.15
116Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB42.15
117Achromatopsia 4EnrichmentGNAI3, GNAT22.15
118Lung sarcomatoid carcinomaEnrichmentKRAS, TP532.15
119Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.15
120Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.15
121Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS2.12
122Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R22.09
123Lymphoproliferative syndrome 2EnrichmentCD27, XIAP2.09
124Tuberous sclerosisEnrichmentTSC1, TSC22.09
125Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.07
126Insulin-like growth factor iEnrichmentIGF1, IGF1R2.07
127Ventricular septal defect 1EnrichmentBMP2, BMP72.07
128HoloprosencephalyEnrichmentFGF8, FGFR12.07
129Diffuse cutaneous systemic sclerosisEnrichmentCCN2, CCR62.07
130Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RA, CSF2RB2.07
131MeningiomaEnrichmentAKT1, PDGFB, PTEN2.04
132Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.03
133Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.03
134Inherited cancer-predisposing syndromeEnrichmentALK, BMPR1A, CDKN1B, EGFR, KIT, MET, PDGFRA, PTEN, TP53, TSC1, TSC21.93
135Acute myeloid leukemia with maturationEnrichmentFLT3, KIT1.93
136Atrial septal defect 1EnrichmentBMP2, TGFB21.91
137Hemihyperplasia, isolatedEnrichmentIGF2, RHOA1.91
138Holoprosencephaly 1EnrichmentFGF8, FGFR11.91
139Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB41.91
140Limited sclerodermaEnrichmentCCN2, CCR61.91
14146,xy disorder of sex developmentEnrichmentFGFR3, INSR1.91
142Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS11.88
143Rhabdomyosarcoma 2EnrichmentFOXO1, TP531.88
144Pre-eclampsiaEnrichmentFLT1, NOS31.88
145Acute megakaryocytic leukemiaEnrichmentPTEN, TP531.88
146ThrombocytopeniaEnrichmentACVRL1, ITGA2B, ITGB3, THPO, WAS1.86
147Generalized epilepsy with febrile seizures plusEnrichmentFGF13, GABRD, GABRG21.84
148Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK1.77
149Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB31.77
150Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK11.77
151Essential thrombocythemiaEnrichmentJAK2, THPO1.77
152Hereditary hemorrhagic telangiectasiaEnrichmentACVRL1, GDF21.77
153Melanoma, uvealEnrichmentGNA11, PLCB41.77
154Hemangioma, capillary infantileEnrichmentFLT4, KDR1.77
155Li-fraumeni syndromeEnrichmentMDM2, TP531.71
156Cowden syndrome 1EnrichmentEGFR, PTEN1.71
157CraniosynostosisEnrichmentFGFR2, FGFR3, IL11RA1.68
158Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB1.65
159Hemochromatosis, type 1EnrichmentBMP2, BMP61.65
160Prostate cancerEnrichmentAR, EPHB2, PTEN, TP531.64
161Breast cancerEnrichmentAKT1, GNG3, IL2, IL7R, KRAS, PTEN, TP531.63
162Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA1.63
163Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, KRAS1.63
164Leukemia, chronic myeloidEnrichmentKRAS, NRAS1.63
165Gallbladder cancerEnrichmentKRAS, TP531.63
166B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT3, TP531.63
167Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B1.58
168Renal cell carcinoma, papillary, 1EnrichmentMET, MTOR1.58
169Overgrowth syndromeEnrichmentMTOR, PIK3R11.58
170Rheumatoid arthritisEnrichmentIL10, TLR11.55
171Junctional epidermolysis bullosaEnrichmentITGA6, ITGB41.55
172Primary biliary cholangitisEnrichmentIL12A, IL12RB11.55
173Renal agenesis, bilateralEnrichmentFGF20, ITGA81.55
174Amyloidosis, primary localized cutaneous, 1EnrichmentOSMR1.52
175Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.52
176Erythroleukemia, familialEnrichmentERBB31.52
177HypochondroplasiaEnrichmentFGFR31.52
178Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.52
179Paget disease, extramammaryEnrichmentERBB21.52
180Immune deficiency, familial variableEnrichmentTNFRSF13B1.52
181Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.52
182Osteoglophonic dysplasiaEnrichmentFGFR11.52
183Thanatophoric dysplasia, type iEnrichmentFGFR31.52
184Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.52
185Leprosy 3EnrichmentTLR21.52
186Trigonocephaly 1EnrichmentFGFR11.52
187Donohue syndromeEnrichmentINSR1.52
188Spinocerebellar ataxia 27aEnrichmentFGF141.52
189Baraitser-winter syndrome 1EnrichmentACTB1.52
190Muenke syndromeEnrichmentFGFR31.52
191Thrombocytopenia 1EnrichmentWAS1.52
192Intellectual developmental disorder, x-linked 30EnrichmentPAK31.52
193Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.52
194Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA1.52
195Type 1 diabetes mellitus 10EnrichmentIL2RA1.52
196Systemic lupus erythematosus 6EnrichmentITGAM1.52
197Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.52
198Legionnaire diseaseEnrichmentTLR51.52
199Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.52
200Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL11.52
201Hypomagnesemia 4, renalEnrichmentEGF1.52
202Immunodeficiency 68EnrichmentMYD881.52
203Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A1.52
204Glaucoma 3, primary congenital, dEnrichmentLTBP21.52
205Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.52
206Microphthalmia, isolated 4EnrichmentGDF61.52
207Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.52
208Pseudohypoparathyroidism, type icEnrichmentGNAS1.52
209Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.52
210Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.52
211Deafness, autosomal recessive 39EnrichmentHGF1.52
212Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.52
213Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A1.52
214Acromesomelic dysplasia 3EnrichmentBMPR1B1.52
215Macroglobulinemia, waldenstrom 1EnrichmentMYD881.52
216Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.52
217Immunodeficiency 30EnrichmentIL12RB11.52
218Osseous heteroplasia, progressiveEnrichmentGNAS1.52
219Apert syndromeEnrichmentFGFR21.52
220Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.52
221Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.52
222Immunodeficiency 83 viral infectionsEnrichmentTLR31.52
223Immunodeficiency 16EnrichmentTNFRSF41.52
224Polycystic lung diseaseEnrichmentCCR21.52
225Myofibromatosis, infantile, 1EnrichmentPDGFRB1.52
226Bacteremia 1EnrichmentTIRAP1.52
227Thanatophoric dysplasia, type iiEnrichmentFGFR31.52
228Myopathy, scapulohumeroperonealEnrichmentACTA11.52
229Lethal congenital contracture syndrome 2EnrichmentERBB31.52
230Leprosy 5EnrichmentTLR11.52
231Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.52
232Ciliary dyskinesia, primary, 33EnrichmentDRC41.52
233Brachydactyly, type a1, dEnrichmentBMPR1B1.52
234Gist-plus syndromeEnrichmentPDGFRA1.52
235Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.52
236Whim syndrome 1EnrichmentCXCR41.52
237Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.52
238Transient erythroblastopenia of childhoodEnrichmentTEC1.52
239Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.52
240Aplasia of lacrimal and salivary glandsEnrichmentFGF101.52
241Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.52
242Bent bone dysplasia syndrome 1EnrichmentFGFR21.52
243Weill-marchesani syndrome 3EnrichmentLTBP21.52
244Craniosynostosis and dental anomaliesEnrichmentIL11RA1.52
245Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.52
246Angioedema, hereditary, 5EnrichmentANGPT11.52
247Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.52
248Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.52
249Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.52
250Pseudo-torch syndrome 3EnrichmentSTAT21.52
251Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.52
252Immunodeficiency 81EnrichmentLCP21.52
253Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.52
254Developmental and epileptic encephalopathy 58EnrichmentNTRK21.52
255Multiple synostoses syndrome 4EnrichmentGDF61.52
256Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.52
257Intellectual developmental disorder, x-linked 110EnrichmentFGF131.52
258Pituitary adenoma 3, multiple typesEnrichmentGNAS1.52
259Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL71.52
260Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.52
261Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.52
262Knobloch syndrome 2EnrichmentPAK21.52
263Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB1.52
264Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.52
265Hyperemesis gravidarumEnrichmentGDF151.52
266Disabling pansclerotic morphea of childhoodEnrichmentSTAT41.52
267Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.52
268Deafness, autosomal recessive 125EnrichmentGAS21.52
269Short syndromeEnrichmentPIK3R11.52
270Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR71.52
271Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.52
272Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.52
273Ovarian dysgenesis 2EnrichmentBMP151.52
274Hereditary lymphedema idEnrichmentVEGFC1.52
275Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.52
276Okt4 epitope deficiencyEnrichmentCD41.52
277Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.52
278Systemic lupus erythematosus 1EnrichmentTLR51.52
279Osteofibrous dysplasiaEnrichmentMET1.52
280Graft-versus-host diseaseEnrichmentIL101.52
281X-linked immunodeficiency 74EnrichmentTLR71.52
282Microphthalmia, syndromic 6EnrichmentBMP41.52
283Isolated growth hormone deficiency type iiiEnrichmentBTK1.52
284Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.52
285Systemic lupus erythematosus 17EnrichmentTLR71.52
286Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.52
287Developmental and epileptic encephalopathy 90EnrichmentFGF131.52
288Orofacial cleft 11EnrichmentBMP41.52
289T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.52
290Metacarpal 4-5 fusionEnrichmentFGF161.52
291Immunodeficiency 18EnrichmentCD3E1.52
292Systemic lupus erythematosus 11EnrichmentSTAT41.52
293Lymphatic malformation 4EnrichmentVEGFC1.52
294Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.52
295Allergic rhinitisEnrichmentIL131.52
296Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.52
297Familial isolated trichomegalyEnrichmentFGF51.52
298Immunoglobulin a deficiency 2EnrichmentTNFRSF13B1.52
299Deafness, autosomal recessive 97EnrichmentMET1.52
300Immunodeficiency 25EnrichmentCD2471.52
301Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.52
302Psoriasis 7EnrichmentIL23R1.52
303Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.52
304Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.52
305Camurati-engelmann disease 2EnrichmentTGFB21.52
306Geleophysic dysplasia 3EnrichmentLTBP31.52
307Spinocerebellar ataxia 14EnrichmentPRKCG1.52
308Immunodeficiency with hyper-igm, type 3EnrichmentCD401.52
309Lymphoproliferative syndrome 1EnrichmentITK1.52
310Becker nevus syndromeEnrichmentACTB1.52
311Dystonia-deafness syndrome 1EnrichmentACTB1.52
312Autism 9EnrichmentMET1.52
313Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.52
314Glaucoma 1, open angle, oEnrichmentNTF41.52
315Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.52
316Iron overloadEnrichmentBMP61.52
317Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB1.52
318Immunodeficiency 31aEnrichmentSTAT11.52
319Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.52
320Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.52
321Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.52
322Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.52
323Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.52
324Multiple sclerosis 5EnrichmentTNFRSF1A1.52
325Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD1.52
326Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.52
327Immunodeficiency 29EnrichmentIL12B1.52
328Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.52
329Leber congenital amaurosis 17EnrichmentGDF61.52
330Hypocalcemia, autosomal dominant 2EnrichmentGNA111.52
331Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.52
332Amyotrophic lateral sclerosis 19EnrichmentERBB41.52
333Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.52
334Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.52
335MelioidosisEnrichmentTLR51.52
336Candidiasis, familial, 9EnrichmentIL17RC1.52
337Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.52
338Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.52
339Autosomal dominant familial visceral neuropathyEnrichmentACTG21.52
340Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.52
341Inflammatory bowel disease 17EnrichmentIL23R1.52
342Macular degeneration, age-related, 10EnrichmentTLR41.52
343Immunodeficiency 31bEnrichmentSTAT11.52
344Type 1 diabetes mellitus 22EnrichmentCCR51.52
345Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.52
346Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.52
347Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.52
348Disorders of gnas inactivationEnrichmentGNAS1.52
349Macular degeneration, age-related, 12EnrichmentCX3CR11.52
350Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.52
351Kosaki overgrowth syndromeEnrichmentPDGFRB1.52
352Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.52
353Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.52
354Hartsfield syndromeEnrichmentFGFR11.52
355Loeys-dietz syndrome 5EnrichmentTGFB31.52
356Renal hypodysplasia/aplasia 2EnrichmentFGF201.52
357Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.52
358PsoriasisEnrichmentIL17RA1.52
359Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.52
36020p12.3 microdeletion syndromeEnrichmentBMP21.52
361Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.52
362Was-related disordersEnrichmentWAS1.52
363Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.52
364Takenouchi-kosaki syndromeEnrichmentCDC421.52
365Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.52
366Glaucoma 3, primary congenital, eEnrichmentTEK1.52
367Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.52
368Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.52
369Sick sinus syndrome 4EnrichmentGNB21.52
370Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.52
371Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.52
372Developmental and epileptic encephalopathy 47EnrichmentFGF121.52
373Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.52
374Immunodeficiency 79EnrichmentCD41.52
375Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.52
376Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.52
377Premature ovarian failure 14EnrichmentGDF91.52
378TelangiectasisEnrichmentACVRL11.52
379Immunodeficiency 129EnrichmentRHOH1.52
380Whim syndrome 2EnrichmentCXCR21.52
381Deafness, autosomal dominant 69EnrichmentKITLG1.52
382Immunodeficiency 19, severe combinedEnrichmentCD3D1.52
383Immature teratoma of ovaryEnrichmentBMP151.52
384T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.52
385Thrombocytopenia 9EnrichmentTHPO1.52
386Arthrogryposis, distal, type 11EnrichmentMET1.52
387Amelogenesis imperfecta, type ihEnrichmentITGB61.52
388Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.52
389Baraitser-winter syndromeEnrichmentACTB1.52
390Csf1r-related disorderEnrichmentCSF1R1.52
391Immunodeficiency 109 with lymphoproliferationEnrichmentTNFRSF91.52
392Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.52
393Bockenheimer syndromeEnrichmentTEK1.52
394T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.52
395Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.52
396ColitisEnrichmentSYK1.52
397Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.52
398Primary pulmonary hypertensionEnrichmentBMPR21.52
399Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.52
400Pulmonary hypertensionEnrichmentBMPR21.52
401Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.52
402Zebra body myopathyEnrichmentACTA11.52
403Spinocerebellar ataxia type 27bEnrichmentFGF141.52
404Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.52
405Fgfr3-related chondrodysplasiaEnrichmentFGFR31.52
406Chronic neutrophilic leukemiaEnrichmentCSF3R1.52
407Congenital smooth muscle hamartomaEnrichmentACTB1.52
408Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR21.52
409Waldenstram macroglobulinemiaEnrichmentMYD881.52
410Common variable immunodeficiency phenotype due to homozygous taci deficiencyEnrichmentTNFRSF13B1.52
411Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.52
412Nocarh syndromeEnrichmentCDC421.52
413Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR21.52
414Congenital primary lymphedema of gordonEnrichmentVEGFC1.52
415Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.52
416Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.52
417Immunodeficiency 19EnrichmentCD3D1.52
418Familial progressive hyperpigmentationEnrichmentKITLG1.52
419Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.52
420Monostotic fibrous dysplasiaEnrichmentGNAS1.52
421T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R1.52
422Actin-accumulation myopathyEnrichmentACTA11.52
423Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.52
424Phakomatosis cesiomarmorataEnrichmentGNA111.52
425Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF121.52
426Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.52
427Kaposiform hemangioendotheliomaEnrichmentGNA141.52
428Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.52
429Mazabraud syndromeEnrichmentGNAS1.52
430Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.52
431Myopathic intestinal pseudoobstructionEnrichmentACTG21.52
432Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.52
433Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.52
434Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.52
435Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.52
436Interstitial lung disease specific to childhoodEnrichmentFGF101.52
437Serous carcinoma of the corpus uteriEnrichmentERBB21.52
438Actg2 visceral myopathyEnrichmentACTG21.52
439Glioma susceptibility 1EnrichmentERBB2, TP531.52
440Omenn syndromeEnrichmentIL2RG, IL7R1.46
441Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB31.46
442Lennox-gastaut syndromeEnrichmentGABRB3, GABRG21.46
443Lymphatic malformation 5EnrichmentEPHB41.45
444Brachydactyly, type b1EnrichmentROR21.45
445Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.45
446Oculoectodermal syndromeEnrichmentKRAS1.45
447Noonan syndrome 4EnrichmentSOS11.45
448Leprosy 4EnrichmentLTA1.45
449Mastocytosis, cutaneousEnrichmentKIT1.45
450Neuroblastoma 3EnrichmentALK1.45
451Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.45
452Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.45
453Melanosis, neurocutaneousEnrichmentNRAS1.45
454Noonan syndrome 9EnrichmentSOS21.45
455Noonan syndrome 6EnrichmentNRAS1.45
456Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.45
457Frontometaphyseal dysplasia 2EnrichmentMAP3K71.45
458Ventricular tachycardia, familialEnrichmentGNAI21.45
459Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.45
460Noonan syndrome 11EnrichmentMRAS1.45
461Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.45
462Deafness, autosomal recessive 108EnrichmentROR11.45
463Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.45
464Lymphoproliferative syndrome 3EnrichmentCD701.45
465Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG1.45
466Immunodeficiency 48EnrichmentZAP701.45
467Bone marrow failure syndrome 5EnrichmentTP531.45
468Papilloma of choroid plexusEnrichmentTP531.45
469Auriculocondylar syndrome 2aEnrichmentPLCB41.45
470Basal cell carcinoma 7EnrichmentTP531.45
471Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.45
472Anaplastic thyroid carcinomaEnrichmentTP531.45
473Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.45
474Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.45
475Asthma-related traits 5EnrichmentIRAK31.45
476Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.45
477Developmental and epileptic encephalopathy 17EnrichmentGNAO11.45
478Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.45
479Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A1.45
480Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB11.45
481Immunodeficiency 67EnrichmentIRAK41.45
482Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.45
483Dystonia 25EnrichmentGNAL1.45
484Night blindness, congenital stationary, type 1gEnrichmentGNAT11.45
485Polydactyly-macrocephaly syndromeEnrichmentMAX1.45
486Nasopharyngeal carcinoma 3EnrichmentMST1R1.45
487Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.45
488Neurocardiofaciodigital syndromeEnrichmentMAPKAPK51.45
489Macular dystrophy, patterned, 3EnrichmentMAPKAPK31.45
490Ductal carcinoma in situEnrichmentTP531.45
491Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.45
492Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.45
493Congenital heart defects, multiple types, 7EnrichmentFLT41.45
494Immunodeficiency 22EnrichmentLCK1.45
495Bleeding disorder, platelet-type, 22EnrichmentEPHB21.45
496Thrombocytopenia 6EnrichmentSRC1.45
497Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.45
498Chronic mast cell leukemiaEnrichmentKIT1.45
499Warburg-cinotti syndromeEnrichmentDDR21.45
500Thyroid gland undifferentiated carcinomaEnrichmentTP531.45
501Auriculocondylar syndrome 2bEnrichmentPLCB41.45
502Tufted angioma of skinEnrichmentKDR1.45
503Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.45
504Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.45
5055q14.3 microdeletion syndromeEnrichmentMEF2C1.45
506Isolated bone marrow mastocytosisEnrichmentKIT1.45
507Congenital pulmonary airway malformationEnrichmentKRAS1.45
508Smoldering systemic mastocytosisEnrichmentKIT1.45
509Cerebral cavernous malformations 5EnrichmentMAP3K31.45
510Choroid plexus cancerEnrichmentTP531.45
511Alk-positive anaplastic large cell lymphomaEnrichmentALK1.45
512Cd40 ligand deficiencyEnrichmentCD40LG1.45
513Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.45
514Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA1.45
515MastocytosisEnrichmentKIT1.45
516Pleomorphic xanthoastrocytomaEnrichmentTP531.45
517Cutaneous mastocytomaEnrichmentKIT1.45
518Typical urticaria pigmentosaEnrichmentKIT1.45
519Gnao1-related disorderEnrichmentGNAO11.45
520Phakomatosis pigmentokeratoticaEnrichmentHRAS1.45
521Mef2c-related disorderEnrichmentMEF2C1.45
522Nodular urticaria pigmentosaEnrichmentKIT1.45
523Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.45
524Alk-positive large b-cell lymphomaEnrichmentALK1.45
525Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.45
526Verrucous hemangiomaEnrichmentMAP3K31.45
527Telangiectasia macularis eruptiva perstansEnrichmentKIT1.45
528Acute mast cell leukemiaEnrichmentKIT1.45
529Plaque-form urticaria pigmentosaEnrichmentKIT1.45
530Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.45
531Neurocutaneous melanocytosisEnrichmentNRAS1.45
532Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.45
533Zap70-related severe combined immunodeficiencyEnrichmentZAP701.45
534Polyvalvular heart disease syndromeEnrichmentTAB21.45
535Vein of galen aneurysmal malformationEnrichmentEPHB41.45
536Testis seminomaEnrichmentKIT1.45
537Proteus syndromeEnrichmentAKT11.42
538Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.42
539Prostate cancer, hereditary, x-linked 3EnrichmentAR1.42
540Vacterl association with hydrocephalusEnrichmentPTEN1.42
541Androgen insensitivity, partialEnrichmentAR1.42
542Incontinentia pigmentiEnrichmentIKBKG1.42
543Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP1.42
544Deafness, autosomal recessive 26EnrichmentGAB11.42
545Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.42
546Noonan syndrome 5EnrichmentRAF11.42
547Febrile seizures, familial, 8EnrichmentGABRG21.42
548Spinocerebellar ataxia 12EnrichmentPPP2R2B1.42
549Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP11.42
550Epilepsy, idiopathic generalized 13EnrichmentGABRA11.42
551Cardiomyopathy, dilated, 1nnEnrichmentRAF11.42
552Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.42
553Fetal encasement syndromeEnrichmentCHUK1.42
554Accelerated tumor formationEnrichmentMDM21.42
555Immunodeficiency 15bEnrichmentIKBKB1.42
556Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.42
557Immunodeficiency 15aEnrichmentIKBKB1.42
558Developmental and epileptic encephalopathy 74EnrichmentGABRG21.42
559Developmental and epileptic encephalopathy 79EnrichmentGABRA51.42
560Lessel-kubisch syndromeEnrichmentMDM21.42
561Houge-janssens syndrome 4EnrichmentPPP2R5C1.42
562Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.42
563Pseudohypoaldosteronism, type iicEnrichmentWNK11.42
564Deafness, dystonia, and cerebral hypomyelinationEnrichmentBCAP311.42
565Autism 19EnrichmentEIF4E1.42
566Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic featuresEnrichmentGABRA31.42
567Epilepsy, idiopathic generalized 10EnrichmentGABRD1.42
568Papillary tumor of the pineal regionEnrichmentPTEN1.42
569Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP11.42
570Houge-janssens syndrome 2EnrichmentPPP2R1A1.42
571Developmental and epileptic encephalopathy 19EnrichmentGABRA11.42
572Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.42
573Neuroendocrine tumorEnrichmentCDKN1B1.42
574Leopard syndrome 2EnrichmentRAF11.42
575Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC1.42
576Cowden syndrome 6EnrichmentAKT11.42
577Epilepsy, childhood absence 5EnrichmentGABRB31.42
578Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.42
579Glioma susceptibility 2EnrichmentPTEN1.42
580Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.42
581Developmental and epileptic encephalopathy 92EnrichmentGABRB21.42
582Lopes-maciel-rodan syndromeEnrichmentHTT1.42
583Developmental and epileptic encephalopathy 43EnrichmentGABRB31.42
584Developmental and epileptic encephalopathy 45EnrichmentGABRB11.42
585Bartsocas-papas syndrome 2EnrichmentCHUK1.42
586TrigonitisEnrichmentRAF11.42
587Capillary hemangiomaEnrichmentAKT31.42
588Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK11.42
589Amyotrophic lateral sclerosis type 13EnrichmentATXN21.42
590Complete androgen insensitivity syndromeEnrichmentAR1.42
591Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.42
592Juvenile huntington diseaseEnrichmentHTT1.42
593Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.42
594Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.42
595Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.42
596Akt2-related familial partial lipodystrophyEnrichmentAKT21.42
597Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.42
598Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R, FLT31.42
599Primary hyperaldosteronismEnrichmentGNAS, TP531.42
600Immune deficiency diseaseEnrichmentCD27, SYK1.39
601Cowden syndromeEnrichmentAKT1, PTEN1.36
602Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.32
603Myocardial infarctionEnrichmentITGB3, LTA, TNFSF41.31
604Leukemia, chronic lymphocyticEnrichmentCCND1, TP531.28
605Dravet syndromeEnrichmentGABRA1, GABRG21.28
606Hirschsprung disease 1EnrichmentERBB2, ERBB3, NRG31.26
607Severe covid-19EnrichmentIL10RB, ITGAV, JAK31.26
608Leukemia, acute lymphoblasticEnrichmentFLT3, GNB11.25
609Myelodysplastic syndromeEnrichmentGNB1, TP531.25
610Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B1.25
611Alzheimer's diseaseEnrichmentCSF1R, TNF1.25
612Acromicric dysplasiaEnrichmentLTBP31.23
613Cri-du-chat syndromeEnrichmentSEMA5A1.23
614Leukocyte adhesion deficiency, type iEnrichmentITGB21.23
615Blue rubber bleb nevusEnrichmentTEK1.23
616Familial expansile osteolysisEnrichmentTNFRSF11A1.23
617Sorsby fundus dystrophyEnrichmentTIMP31.23
618Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.23
619Pseudohypoparathyroidism, type iaEnrichmentGNAS1.23
620Camurati-engelmann disease 1EnrichmentTGFB11.23
621Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.23
622TrichomegalyEnrichmentFGF51.23
623Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A1.23
624Hemangiopericytoma, malignantEnrichmentSTAT61.23
625Immunodeficiency, common variable, 2EnrichmentTNFRSF13B1.23
626Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.23
627Cutis marmorata telangiectatica congenitaEnrichmentGNA111.23
628Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.23
629Kyphomelic dysplasiaEnrichmentCCN21.23
630Neutropenia, severe congenital, x-linkedEnrichmentWAS1.23
631Omodysplasia 1EnrichmentGPC61.23
632Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR21.23
633Pulmonary hypoplasia, primaryEnrichmentFGF101.23
634Dermatofibrosarcoma protuberansEnrichmentPDGFB1.23
635Wiskott-aldrich syndromeEnrichmentWAS1.23
636West nile virusEnrichmentCCR51.23
637Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.23
638Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.23
639Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.23
640Parkinson disease 8, autosomal dominantEnrichmentGDF61.23
641Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.23
642Aortic aneurysm, familial thoracic 2EnrichmentACTA21.23
643Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.23
644PseudopseudohypoparathyroidismEnrichmentGNAS1.23
645Immunodeficiency with hyper-igm, type 2EnrichmentTNFRSF13B1.23
646Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.23
647Aural atresia, congenitalEnrichmentFGFR21.23
648Deafness, autosomal dominant 20EnrichmentACTG11.23
649Keratosis, seborrheicEnrichmentFGFR31.23
650Multiple synostoses syndrome 2EnrichmentGDF51.23
651Smooth muscle dysfunction syndromeEnrichmentACTA21.23
652Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.23
653Neutrophilia, hereditaryEnrichmentCSF3R1.23
654Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.23
655Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.23
656Aortic aneurysm, familial thoracic 6EnrichmentACTA21.23
657Baraitser-winter syndrome 2EnrichmentACTG11.23
658Silver-russell syndrome 3EnrichmentIGF21.23
659Osteogenesis imperfecta, type xiiiEnrichmentBMP11.23
660Moyamoya disease 5EnrichmentACTA21.23
661Night blindness, congenital stationary, type 1hEnrichmentGNB31.23
662Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.23
663Thrombocythemia 3EnrichmentJAK21.23
664Immunodeficiency 51EnrichmentIL17RA1.23
665Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B1.23
666Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentCSF3R1.23
667Brachydactyly, type a1, cEnrichmentGDF51.23
668Symphalangism, proximal, 1bEnrichmentGDF51.23
669Immunodeficiency 31cEnrichmentSTAT11.23
670Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.23
671Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.23
672Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.23
673Waardenburg syndrome, type 2fEnrichmentKITLG1.23
674Lymphatic malformation 11EnrichmentTIE11.23
675Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.23
676Agammaglobulinemia, x-linkedEnrichmentBTK1.23
677Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.23
678Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.23
679Kowarski syndromeEnrichmentGH11.23
680Infantile myofibromatosisEnrichmentPDGFRB1.23
681Pulmonary venoocclusive disease 1EnrichmentBMPR21.23
682Intravascular large b-cell lymphomaEnrichmentBCL21.23
683Primary cutaneous amyloidosisEnrichmentOSMR1.23
684Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.23
685Immunodeficiency 127EnrichmentTNF1.23
686Childhood hepatocellular carcinomaEnrichmentMET1.23
687Lymphoproliferative syndromeEnrichmentITK1.23
688Immunodeficiency, common variable, 4EnrichmentTNFRSF13C1.23
689Split hand-foot malformationEnrichmentFGFR21.23
690Rosette-forming glioneuronal tumorEnrichmentFGFR11.23
691Autosomal dominant hypocalcemiaEnrichmentGNA111.23
692Leprosy 1EnrichmentTLR61.23
693PseudohypoparathyroidismEnrichmentGNAS1.23
694Papillary renal cell carcinomaEnrichmentMET1.23
695Congenital mesoblastic nephromaEnrichmentNTRK31.23
696Camurati-engelmann diseaseEnrichmentTGFB11.23
697Inflammatory bowel disease 28EnrichmentIL10RA1.23
698Severe congenital neutropenia 7EnrichmentCSF3R1.23
699Immunodeficiency 104, severe combinedEnrichmentIL7R1.23
700Microphthalmia/coloboma 6EnrichmentGDF61.23
701Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.23
702Multiple sclerosis 3EnrichmentIL7R1.23
703Immunodeficiency 17EnrichmentCD3G1.23
704Immune system diseaseEnrichmentCDC421.23
705FibrosarcomaEnrichmentNTRK31.23
706Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.23
707Proximal symphalangismEnrichmentGDF51.23
708PolycythemiaEnrichmentJAK21.23
709Craniosynostosis 7EnrichmentBMP21.23
710Immunodeficiency 52EnrichmentLAT1.23
711Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.23
712Hereditary mixed polyposis syndromeEnrichmentBMPR1A1.23
713Lymphatic malformation 10EnrichmentANGPT21.23
714Interfrontal craniofaciosynostosisEnrichmentFGFR11.23
715Intermittent hydrarthrosisEnrichmentTNFRSF1A1.23
716Short stature due to growth hormone qualitative anomalyEnrichmentGH11.23
717Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.23
718Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.23
719Chronic eosinophilic leukemiaEnrichmentPDGFRA1.23
720Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.23
721ArthritisEnrichmentSYK1.23
722Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.23
723Hypereosinophilic syndromeEnrichmentJAK21.23
724Pulmonary venoocclusive diseaseEnrichmentBMPR21.23
725B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.23
726Transient predisposition to invasive pyogenic bacterial infectionEnrichmentMYD881.23
727Common variable immunodeficiency 12EnrichmentNFKB11.23
728Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.23
729Oculootodental syndromeEnrichmentFADD1.23
730Intestinal obstructionEnrichmentACTG21.23
731Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR21.23
732Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.23
733Cerebral visual impairmentEnrichmentGNB11.23
734Phakomatosis cesioflammeaEnrichmentGNA111.23
735Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.23
736Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR1.20
737Hydrops fetalis, nonimmuneEnrichmentEPHB4, FLT4, HRAS1.20
738Epilepsy, myoclonic juvenileEnrichmentGABRA1, GABRD1.20
739Epilepsy, idiopathic generalizedEnrichmentGABRA1, GABRD1.20
740Meningioma, familialEnrichmentPDGFB, PTEN1.20
741Multiple sclerosisEnrichmentITGB4, TNFRSF1A1.19
742Cleft lip/palateEnrichmentBMP4, PDGFRA1.19
743Fibromatosis, gingival, 1EnrichmentSOS11.16
744Adrenocortical carcinoma, hereditaryEnrichmentTP531.16
745Costello syndromeEnrichmentHRAS1.16
746Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.16
747Immunodeficiency 33EnrichmentIRAK41.16
748Pulmonic stenosisEnrichmentSOS11.16
749Loeys-dietz syndrome 2EnrichmentTGFBR11.16
750Histiocytoma, angiomatoid fibrousEnrichmentCREB11.16
751Piebald traitEnrichmentKIT1.16
752Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB11.16
753Spermatogenic failure 17EnrichmentPLCZ11.16
754Lymphoma, hodgkin, classicEnrichmentTP531.16
755Osteopetrosis, autosomal recessive 2EnrichmentTNFSF111.16
756Noonan syndrome 12EnrichmentRRAS21.16
757Congenital fibrosarcomaEnrichmentTP531.16
758Li-fraumeni syndrome 1EnrichmentTP531.16
759SarcomaEnrichmentTP531.16
760Congenital dyserythropoietic anemiaEnrichmentIRAK41.16
761Ocular melanomaEnrichmentPLCB41.16
762Congenital heart defects, multiple types, 2EnrichmentTAB21.16
763Hodgkin's lymphomaEnrichmentTP531.16
764HypopituitarismEnrichmentGNAI21.16
765Retinitis pigmentosa 38EnrichmentMERTK1.16
766Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.16
767Acute myeloid leukemia without maturationEnrichmentFLT31.16
768Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB21.16
769Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.16
770B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.16
771Pleomorphic rhabdomyosarcomaEnrichmentTP531.16
772Wooly hair nevusEnrichmentHRAS1.16
773Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, ITGA71.14
774HydrocephalusEnrichmentFGFR2, PDGFRB1.14
775Spinocerebellar ataxia 1EnrichmentATXN11.13
776Spinocerebellar ataxia 7EnrichmentATXN71.13
777Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.13
778Glycogen storage disease 0, liverEnrichmentGYS21.13
779Glycogen storage disease viiEnrichmentPFKM1.13
780Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.13
781Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B1.13
782Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.13
783Houge-janssens syndrome 1EnrichmentPPP2R5D1.13
784Spinocerebellar ataxia 2EnrichmentATXN21.13
78546,xy sex reversal 1EnrichmentAR1.13
786Androgen insensitivity syndromeEnrichmentAR1.13
787Cebalid syndromeEnrichmentMTOR1.13
788Hypospadias 1, x-linkedEnrichmentAR1.13
789Glycogen storage disease 0, muscleEnrichmentGYS11.13
790Senior-loken syndrome 7EnrichmentAKT31.13
791Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG1.13
792Developmental and epileptic encephalopathy 78EnrichmentGABRA21.13
793Bardet-biedl syndrome 16EnrichmentAKT31.13
794Smith-kingsmore syndromeEnrichmentMTOR1.13
795Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.13
796Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS21.13
797Houge-janssens syndrome 3EnrichmentPPP2CA1.13
798CaddsEnrichmentBCAP311.13
799Vacterl with hydrocephalusEnrichmentPTEN1.13
800Posterior hypospadiasEnrichmentAR1.13
801Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.13
802Aortic valve disease 1EnrichmentSOS1, TAB21.12
803CakutEnrichmentACTG1, GDF6, LIFR1.09
804Hereditary breast carcinomaEnrichmentAKT1, KRAS, PTEN, TP531.07
805Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.06
806AchondroplasiaEnrichmentFGFR31.06
807Mccune-albright syndromeEnrichmentGNAS1.06
808Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.06
809Larsen syndromeEnrichmentFGFR31.06
810Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.06
811Thyroid carcinoma, familial medullaryEnrichmentNTRK11.06
812Juvenile polyposis syndromeEnrichmentBMPR1A1.06
813Exfoliation syndromeEnrichmentLTBP21.06
814Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.06
815Thrombocythemia 1EnrichmentTHPO1.06
816Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.06
817DysosteosclerosisEnrichmentTNFRSF11A1.06
818Takayasu arteritisEnrichmentIL12B1.06
819Polycythemia veraEnrichmentJAK21.06
820Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.06
821Severe combined immunodeficiency, x-linkedEnrichmentIL2RG1.06
822Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.06
823Stuve-wiedemann syndrome 1EnrichmentLIFR1.06
824Muscular dystrophy, duchenne typeEnrichmentLTBP41.06
825Combined immunodeficiency, x-linkedEnrichmentIL2RG1.06
826Transposition of the great arteries, dextro-loopedEnrichmentBMP21.06
827Hepatitis c virusEnrichmentCCR51.06
828Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.06
829Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.06
830Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.06
831Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.06
832Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.06
833Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.06
834Weill-marchesani syndrome 1EnrichmentLTBP21.06
835Agammaglobulinemia 1EnrichmentBTK1.06
836Primary polycythemiaEnrichmentEPOR1.06
837Autosomal recessive cutis laxa type iEnrichmentLTBP11.06
838Hyper ige syndromeEnrichmentSTAT31.06
839High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL21.06
840Isolated growth hormone deficiency, type ibEnrichmentGH11.06
841Inflammatory bowel disease 25EnrichmentIL10RB1.06
842Immunodeficiency 14EnrichmentPIK3R11.06
843T-cell acute lymphoblastic leukemiaEnrichmentBAX1.06
844Migraine without auraEnrichmentTNF1.06
845Immunodeficiency 44EnrichmentSTAT21.06
846Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.06
847Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.06
848High bone mass osteogenesis imperfectaEnrichmentBMP11.06
849Bleeding disorder, platelet-type, 24EnrichmentITGB31.06
850Adult-onset myasthenia gravisEnrichmentTNFRSF11A1.06
851Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.06
852Geleophysic dysplasiaEnrichmentLTBP31.06
853Alopecia - intellectual disability syndromeEnrichmentITGB61.06
854Renal cell carcinomaEnrichmentMET1.06
855Stüve-wiedemann syndromeEnrichmentLIFR1.06
856Testicular cancerEnrichmentFGFR31.06
857Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR21.06
858Isolated klippel-feil syndromeEnrichmentGDF61.06
859Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.06
860Vogt-koyanagi-harada diseaseEnrichmentFAS1.06
861Pelvic organ prolapseEnrichmentTAB20.99
862Nuchal bleb, familialEnrichmentSOS10.99
863Langerhans cell histiocytosisEnrichmentNRAS0.99
864Osteogenic sarcomaEnrichmentTP530.99
865Nasopharyngeal carcinomaEnrichmentTP530.99
866Nephrotic syndrome, type 3EnrichmentPLCE10.99
867Bronchopulmonary dysplasiaEnrichmentMUSK0.99
868Bacteremia 2EnrichmentMAPKAPK30.99
869Loeys-dietz syndrome 1EnrichmentTGFBR10.99
870Lymphatic malformation 7EnrichmentEPHB40.99
871Atypical teratoid rhabdoid tumorEnrichmentTP530.99
872Anaplastic astrocytomaEnrichmentTP530.99
873Frontometaphyseal dysplasiaEnrichmentMAP3K70.99
874Capillary malformation-arteriovenous malformation 2EnrichmentEPHB40.99
875Myxoid liposarcomaEnrichmentDDIT30.99
876Squamous cell carcinomaEnrichmentTP530.99
877AdenocarcinomaEnrichmentTP530.99
878Immunodeficiency, common variable, 11EnrichmentIL210.99
879Bone osteosarcomaEnrichmentTP530.99
880Melanoma of soft tissueEnrichmentCREB10.99
881Mixed phenotype acute leukemia with tEnrichmentFLT30.99
882Renal cell carcinoma, nonpapillaryEnrichmentMET, MTOR0.96
883Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF10.96
884Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC20.96
885Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B0.96
886Spinocerebellar ataxia 10EnrichmentATXN100.96
887Tuberous sclerosis 2EnrichmentTSC20.96
888Miller-dieker lissencephaly syndromeEnrichmentYWHAE0.96
889Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE0.96
890Dedifferentiated liposarcomaEnrichmentMDM20.96
891Xanthinuria, type iiEnrichmentTSC20.96
892Well-differentiated liposarcomaEnrichmentMDM20.96
893Thyrotoxic periodic paralysisEnrichmentGABRA30.96
894Kaposi sarcomaEnrichmentIL60.94
895Amelogenesis imperfecta, type iiiaEnrichmentITGB60.94
896Isolated growth hormone deficiency, type iiEnrichmentGH10.94
897Nemaline myopathy 2EnrichmentACTA10.94
898Anemia, autoimmune hemolyticEnrichmentTLR80.94
899Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG20.94
900Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.94
901Hemophilia aEnrichmentACVRL10.94
902Pseudohypoparathyroidism, type ibEnrichmentGNAS0.94
903Budd-chiari syndromeEnrichmentJAK20.94
904Microtia-anotiaEnrichmentBMP50.94
905Paget disease of bone 2, early-onsetEnrichmentTNFRSF11A0.94
906Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.94
907Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB40.94
908Immunodeficiency, common variable, 1EnrichmentTNFRSF13B0.94
909Retinitis pigmentosa 26EnrichmentITGA40.94
910Factor viii deficiencyEnrichmentACVRL10.94
911Barrett esophagusEnrichmentERBB20.94
912Aminoacylase 1 deficiencyEnrichmentACTB0.94
913Congenital generalized lipodystrophyEnrichmentFOS0.94
914Weill-marchesani syndromeEnrichmentLTBP20.94
915Hereditary ataxiaEnrichmentPRKCG0.94
916Hepatitis bEnrichmentIL10RB0.94
917Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC420.94
918Adenosine deaminase deficiencyEnrichmentJAK30.94
919Knobloch syndromeEnrichmentPAK20.94
920Paget's disease of bone 2EnrichmentTNFRSF11A0.94
921Cerebral malariaEnrichmentTNF0.94
922Silver-russell syndrome due to a point mutationEnrichmentIGF20.94
923Inherited epidermodysplasia verruciformisEnrichmentIL70.94
924Non-syndromic bicoronal craniosynostosisEnrichmentFGFR30.94
925Intermediate nemaline myopathyEnrichmentACTA10.94
926Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.94
927Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT10.94
928Familial sick sinus syndromeEnrichmentGNB20.94
929Pseudomyogenic hemangioendotheliomaEnrichmentACTB0.94
930Alzheimer disease, familial, 1EnrichmentCSF1R, NOS30.87
931Hypertension, essentialEnrichmentGNB3, NOS30.87
932Cardiofaciocutaneous syndrome 1EnrichmentKRAS0.87
933Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS0.87
934Small cell cancer of the lungEnrichmentTP530.87
935Thyroid cancer, nonmedullary, 1EnrichmentTP530.87
936CholangiocarcinomaEnrichmentROS10.87
937Developmental and epileptic encephalopathy 12EnrichmentPLCB10.87
938Cardiofaciocutaneous syndromeEnrichmentKRAS0.87
939Chronic myelomonocytic leukemiaEnrichmentFLT30.87
940Embryonal rhabdomyosarcomaEnrichmentTP530.87
941Aortic aneurysmEnrichmentTGFBR10.87
942TuberculosisEnrichmentMAPKAPK30.87
943Pilocytic astrocytomaEnrichmentKRAS0.87
944Epidermolytic nevusEnrichmentHRAS0.87
945Autosomal recessive osteopetrosisEnrichmentTNFSF110.87
946Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT0.87
947Gingival fibromatosisEnrichmentSOS10.87
948Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS20.87
949Visceral heterotaxyEnrichmentACVR2B, LEFTY20.86
950Tooth agenesisEnrichmentFGFR1, TGFA0.86
951Multisystem inflammatory syndrome in childrenEnrichmentTLR3, TLR60.86
952Capillary malformations, congenitalEnrichmentGNA110.85
953Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB30.85
954Visceral myopathy 1EnrichmentACTG20.85
955Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB40.85
956Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT20.85
957Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK30.85
958Congenital myopathy 3 with rigid spineEnrichmentACTA10.85
959Rheumatoid arthritis, systemic juvenileEnrichmentIL60.85
960Atrioventricular septal defectEnrichmentBMP50.85
961Knobloch syndrome 1EnrichmentPAK20.85
962Mosaic variegated aneuploidy syndrome 1EnrichmentPAK60.85
963Congenital heart defects, multiple types, 4EnrichmentBMP70.85
964Glanzmann thrombasthenia 2EnrichmentITGB30.85
965Follicular lymphomaEnrichmentBCL20.85
966Myeloproliferative neoplasmEnrichmentJAK20.85
967Epidermolysis bullosaEnrichmentITGA60.85
968Juvenile glaucomaEnrichmentLTBP20.85
969Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB30.85
970Histiocytoid hemangiomaEnrichmentFOS0.85
971Aplasia cutis congenitaEnrichmentITGB40.85
972Vascular dementiaEnrichmentTNF0.85
973Herpes simplex virus encephalitisEnrichmentTLR30.85
974Coloboma of choroid and retinaEnrichmentACTG10.85
975Severe congenital nemaline myopathyEnrichmentACTA10.85
976Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A0.85
977Familial cerebral saccular aneurysmEnrichmentANGPTL60.85
978Huntington diseaseEnrichmentHTT0.84
979Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentWNK10.84
980Granulomatous disease, chronic, x-linkedEnrichmentNCF10.84
981Mantle cell lymphomaEnrichmentCCND10.84
982Hereditary sensory and autonomic neuropathy type 2EnrichmentWNK10.84
983Autosomal dominant nocturnal frontal lobe epilepsyEnrichmentGABRG20.84
984Malignant epithelioid hemangioendotheliomaEnrichmentYAP10.84
985Noonan syndrome with multiple lentiginesEnrichmentRAF10.84
986Primary hyperparathyroidismEnrichmentCDKN1B0.84
987Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, TGFB2, TGFB30.84
988MalariaEnrichmentTIRAP, TNF0.82
989Parkinson's diseaseEnrichmentATXN2, ATXN30.79
990Cataract 6, multiple typesEnrichmentEPHA20.78
991Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF60.78
992Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB10.78
993Robinow syndrome, autosomal recessive 1EnrichmentROR20.78
994Night blindness, congenital stationary, type 1cEnrichmentGNAT10.78
995LymphomaEnrichmentTP530.78
996AniridiaEnrichmentEPHA20.78
997Inherited acute myeloid leukemiaEnrichmentCEBPA0.78
998Glaucoma, primary open angleEnrichmentLTBP20.78
999Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL10.78
1000Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB40.78
1001Split-hand/foot malformation 1EnrichmentFGFR20.78
1002Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.78
1003Moyamoya disease 1EnrichmentACTA20.78
1004Type 1 diabetes mellitusEnrichmentIL60.78
1005Dental anomalies and short statureEnrichmentLTBP30.78
1006Anterior segment dysgenesis 5EnrichmentBMP40.78
1007Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.78
1008Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB40.78
1009Intestinal pseudo-obstructionEnrichmentACTG20.78
1010Typical nemaline myopathyEnrichmentACTA10.78
1011HepatoblastomaEnrichmentFGFR3, TP530.77
1012Alzheimer disease 2EnrichmentNOS30.76
1013Von hippel-lindau syndromeEnrichmentCCND10.76
1014Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.76
1015Macrocephaly/autism syndromeEnrichmentPTEN0.76
1016HemangiomaEnrichmentPTEN0.76
1017Endometrial stromal sarcomaEnrichmentYWHAE0.76
1018Hepatocellular carcinomaEnrichmentMET, TP530.74
1019Primary ovarian insufficiencyEnrichmentBMP6, KDR, NOS3, NTRK10.73
1020Endometrial cancerEnrichmentFGFR2, PTEN0.73
1021Silver-russell syndrome 1EnrichmentIGF20.72
1022MyelofibrosisEnrichmentJAK20.72
1023Waardenburg syndrome, type 2eEnrichmentKITLG0.72
1024BrachydactylyEnrichmentGNAS0.72
1025Epidermolysis bullosa simplexEnrichmentITGB40.72
1026Childhood-onset nemaline myopathyEnrichmentACTA10.72
1027Hypophosphatemic ricketsEnrichmentFGF230.72
1028Inflammatory myofibroblastic tumorEnrichmentALK0.71
1029Autosomal recessive robinow syndromeEnrichmentROR20.71
1030Adrenocortical carcinomaEnrichmentTP530.71
1031Classic ehlers-danlos syndromeEnrichmentTGFBR10.71
1032Congenital stationary night blindnessEnrichmentGNAT1, GNB30.71
1033West syndromeEnrichmentGNAO1, NTRK2, PLCB10.69
1034Angelman syndromeEnrichmentGABRG30.68
1035Alcohol dependenceEnrichmentGABRA20.68
1036Machado-joseph diseaseEnrichmentATXN30.68
1037Epilepsy, childhood absence 1EnrichmentGABRB30.68
1038KeratoconusEnrichmentTSC10.68
1039Kidney clear cell sarcomaEnrichmentYWHAE0.68
1040Arthrogryposis, distal, type 1aEnrichmentMET0.67
1041Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.67
1042Renal hypodysplasia/aplasia 1EnrichmentITGA80.67
1043Isolated growth hormone deficiency, type iaEnrichmentGH10.67
1044Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.67
1045Severe congenital neutropeniaEnrichmentCSF3R0.67
1046Mosaic variegated aneuploidy syndromeEnrichmentPAK60.67
1047HypothyroidismEnrichmentGNB10.67
1048Permanent neonatal diabetes mellitusEnrichmentSTAT30.67
1049Pancreatic cancerEnrichmentKRAS, TP530.66
1050Esophageal cancerEnrichmentTP530.65
1051Parkinson disease, late-onsetEnrichmentATXN2, ATXN30.64
1052Autoinflammatory diseaseEnrichmentTNFRSF1A, XIAP0.64
1053Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.63
1054Polycystic kidney disease 1EnrichmentTSC20.63
1055MegacolonEnrichmentAKT30.63
1056Tooth agenesis, selective, 1EnrichmentBMPR20.62
1057Orofacial cleft 1EnrichmentFGF100.62
1058Charge syndromeEnrichmentTNFRSF1A0.62
1059Leukemia, acute lymphoblastic 3EnrichmentJAK20.62
1060Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.62
1061Hypogonadotropic hypogonadismEnrichmentFGFR10.62
1062Congenital central hypoventilation syndromeEnrichmentBDNF0.62
1063Ventricular septal defectEnrichmentTEK0.62
1064Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.62
1065Connective tissue diseaseEnrichmentACTA2, FGFR30.60
1066Narcolepsy 1EnrichmentTNFSF40.60
1067Lymphoma, non-hodgkin, familialEnrichmentTP530.60
1068Ewing sarcomaEnrichmentETV10.60
1069NeuroblastomaEnrichmentALK0.60
1070Choreatic diseaseEnrichmentGNAO10.60
1071Early-onset posterior polar cataractEnrichmentEPHA20.60
1072Cat eye syndromeEnrichmentACTG10.58
1073Meier-gorlin syndrome 1EnrichmentFGFR20.58
1074Peters-plus syndromeEnrichmentBMP40.58
1075Amelogenesis imperfecta, type ieEnrichmentITGB60.58
1076Stroke, ischemicEnrichmentPRKCH0.58
1077Ciliary dyskinesia, primary, 3EnrichmentNFKB10.58
1078Stickler syndromeEnrichmentBMP40.58
1079Nemaline myopathyEnrichmentACTA10.58
1080Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.58
1081Primary bone dysplasiaEnrichmentFGFR30.58
1082Difference of sex developmentEnrichmentAR0.58
1083Nephrotic syndrome, type 1EnrichmentPLCE10.56
1084Developmental and epileptic encephalopathy 14EnrichmentPLCB10.56
1085Frontotemporal dementia 1EnrichmentCSF1R0.55
1086OsteochondrodysplasiaEnrichmentFGFR30.55
1087IchthyosisEnrichmentIL2RB0.55
1088Familial colorectal cancer type xEnrichmentBMPR1A0.55
1089Cardiomyopathy, familial hypertrophic, 4EnrichmentNCF10.53
1090Coronary heart disease 5EnrichmentIKBKG0.53
1091Chronic granulomatous diseaseEnrichmentNCF10.53
1092Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB4, GNB1, YWHAZ0.53
1093Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMUSK0.52
1094AchromatopsiaEnrichmentGNAT20.52
1095Familial colorectal cancerEnrichmentTP530.52
1096EpicanthusEnrichmentACVR10.51
1097Septooptic dysplasiaEnrichmentFGFR10.51
1098Cutis laxaEnrichmentLTBP40.51
109946 xx gonadal dysgenesisEnrichmentBMP150.51
1100Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.51
1101Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.51
1102MicrocephalyEnrichmentACTB, ACTG1, GNB1, IGF1R, PAK30.51
1103Hereditary breast ovarian cancer syndromeEnrichmentKRAS, RIPK1, TP530.51
1104PolymicrogyriaEnrichmentAKT30.49
1105MelanomaEnrichmentPTEN0.49
1106Neural tube defectsEnrichmentITGB10.49
1107Amelogenesis imperfectaEnrichmentLTBP30.49
1108Cerebral palsyEnrichmentGNB1, PDGFRB0.49
1109Migraine with or without aura 1EnrichmentTAB20.49
1110Pectus excavatumEnrichmentTGFBR10.49
1111Movement diseaseEnrichmentGNAO10.49
1112Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, ERBB4, MEF2C0.47
111346,xy complete gonadal dysgenesisEnrichmentAR0.46
1114Uterine corpus cancerEnrichmentPTEN0.46
1115Specific learning disabilityEnrichmentYWHAG0.46
1116Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.46
1117Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.46
1118Isolated macular dystrophyEnrichmentITGA40.46
1119Postsynaptic congenital myasthenic syndromesEnrichmentMUSK0.45
1120DystoniaEnrichmentGNAL, GNB10.45
1121Wilms tumor 1EnrichmentIGF20.44
1122Osteogenesis imperfecta, type iiiEnrichmentBMP10.44
1123Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.43
1124Protein-deficiency anemiaEnrichmentNRAS0.43
1125Fetal akinesia deformation sequence 1EnrichmentMUSK, ROR20.42
1126Microphthalmia/coloboma 12EnrichmentYAP10.40
1127Pulmonary disease, chronic obstructiveEnrichmentPDE3B0.40
1128OsteoporosisEnrichmentSRC0.40
1129PheochromocytomaEnrichmentMAX0.40
1130Cone-rod dystrophy 6EnrichmentGNAT20.40
1131CataractEnrichmentEPHA20.40
113246,xy partial gonadal dysgenesisEnrichmentSOS10.40
1133Cleft palate, isolatedEnrichmentGNB10.39
1134Dandy-walker syndromeEnrichmentPDGFRB0.39
1135Lynch syndromeEnrichmentKRAS0.38
1136Rare genetic intellectual disabilityEnrichmentGNAO10.38
1137Beckwith-wiedemann syndromeEnrichmentIGF20.38
1138Neuromuscular diseaseEnrichmentACTA10.38
1139Congenital myopathyEnrichmentACTA10.36
1140Ehlers-danlos syndromeEnrichmentTGFB20.36
1141Coloboma of maculaEnrichmentYAP10.36
1142Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.36
1143Kidney diseaseEnrichmentTSC10.36
1144Body mass index quantitative trait locus 11EnrichmentBDNF, GNAS0.35
1145EpilepsyEnrichmentGABRA1, GABRB30.35
1146Williams-beuren syndromeEnrichmentGTF2I0.34
1147Macs syndromeEnrichmentGDF60.34
1148Cataract 44EnrichmentEPHA20.34
1149Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, KITLG0.33
1150LissencephalyEnrichmentACTG10.33
1151Centronuclear myopathyEnrichmentACTA10.33
1152Patent foramen ovaleEnrichmentTAB20.32
1153Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.32
1154Early-onset nuclear cataractEnrichmentEPHA20.32
1155Attention deficit-hyperactivity disorderEnrichmentGNB50.31
1156Skin diseaseEnrichmentITGB40.31
1157Brittle bone disorderEnrichmentBMP10.30
1158Focal segmental glomerulosclerosisEnrichmentPLCE10.29
1159Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.27
1160Brugada syndromeEnrichmentSEMA3A0.26
1161StrabismusEnrichmentGNB10.25
1162Diamond-blackfan anemia 1EnrichmentTP530.25
1163Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT30.25
1164Congenital nervous system abnormalityEnrichmentFGFR3, GNB5, PTEN, TSC20.24
1165Nervous system diseaseEnrichmentFGFR3, GNB5, PTEN, TSC20.24
1166Cone dystrophyEnrichmentGNAT20.24
1167Developmental and epileptic encephalopathy 1EnrichmentGNAO10.23
1168Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.22
1169Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET, ROR10.21
1170Cystic fibrosisEnrichmentTGFB10.21
1171Primary autosomal recessive microcephalyEnrichmentANGPT20.21
1172Peripheral nervous system diseaseEnrichmentNGF0.21
1173NeuropathyEnrichmentNGF0.21
1174Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, FGF80.20
1175Non-syndromic genetic deafnessEnrichmentACTG10.18
1176MyopathyEnrichmentACTA10.15
1177Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.15
1178Eye diseaseEnrichmentGNAT20.14
1179Familial hypertrophic cardiomyopathyEnrichmentRAF10.14
1180Distal arthrogryposisEnrichmentACTA10.14
1181Nonsyndromic hearing lossEnrichmentACTG10.14
1182Complex neurodevelopmental disorderEnrichmentGNB2, PAK3, RAC30.14
1183Developmental and epileptic encephalopathyEnrichmentGNAO10.14
1184Diamond-blackfan anemiaEnrichmentTP530.14
1185Nephrotic syndromeEnrichmentITGA30.14
1186Male infertilityEnrichmentAR0.14
1187Left ventricular noncompactionEnrichmentRAF10.13
1188Sensorineural hearing lossEnrichmentHGF0.11
1189Charcot-marie-tooth diseaseEnrichmentHSPB10.11
1190Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.11
1191Autism spectrum disorderEnrichmentGNB1, PTEN, TSC20.10
1192Centralopathic epilepsyEnrichmentPLCB10.10
1193HypertelorismEnrichmentFGFR20.10
1194Familial isolated dilated cardiomyopathyEnrichmentRAF10.06
1195Cone-rod dystrophy 2EnrichmentITGA40.06
1196SchizophreniaEnrichmentGABRB20.05
1197Primary ciliary dyskinesiaEnrichmentDRC40.05
1198Rare genetic deafnessEnrichmentACTG10.04
1199Dilated cardiomyopathyEnrichmentACTA10.04
1200Mitochondrial diseaseEnrichmentGFER0.03
1201Leber plus diseaseEnrichmentGDF60.02
1202Hereditary retinal dystrophyEnrichmentGNAT1, GNAT2, MERTK, TIMP30.00
1203Fundus dystrophyEnrichmentGNAT1, GNAT2, MERTK, TIMP30.00
1204Retinitis pigmentosaEnrichmentGNAT1, MERTK0.00

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