Pleural mesothelioma

No Pathway Network information available for Pleural mesothelioma

Pathways in the Pleural mesothelioma SuperPath

#NameSourceGenes
1Pleural mesotheliomaWikiPathways
(see all 409) (see less)

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

Disorders associated with Pleural mesothelioma SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bladder cancerEnrichmentATM, BRCA1, CDKN1A, CDKN2A, CTNNA3, CTNNB1, EGFR, FGFR3, HRAS, KDM6A, PIK3CA, PTEN, TERT, TP53, TSC110.86
2Inherited cancer-predisposing syndromeEnrichmentAPC, ATM, BAP1, BARD1, BRCA1, CDH1, CDK4, CDKN2A, CTNNA1, EGFR, EZH2, KIT, MAP4K2, MAX, MET, NF2, PDGFRA, PTEN, TP53, TSC1, TSC29.38
3Colorectal cancerEnrichmentAKT1, APC, ATM, BAX, BRCA1, CCND1, CDH1, CTNNA1, CTNNB1, FGFR2, FGFR3, FZD3, IGF2, MET, PIK3CA, SRC, TP539.12
4Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, EGF, PIK3CA, TP53, TSC1, TSC29.12
5Ovarian cancerEnrichmentAKT1, APC, ATM, BARD1, BRCA1, CDH1, CDKN2A, CTNNB1, EGFR, KIT, MAP3K1, MET, NTRK1, PDGFRA, PIK3CA, PTEN, TP53, TSC28.96
6Gastric cancerEnrichmentAPC, ATM, BARD1, BRCA1, CDH1, CDK4, CDKN2A, FGFR2, IL1B, PIK3CA, PTEN, TP538.50
7MeningiomaEnrichmentAKT1, BAP1, NF2, PDGFB, PIK3CA, PTEN, TERT7.82
8Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, FZD2, ROR2, WNT5A7.61
9HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN, RHEB7.61
10Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, FZD2, ROR2, WNT5A6.85
11Hereditary breast carcinomaEnrichmentAKT1, APC, ATM, BARD1, BRCA1, CDH1, PIK3CA, PTEN, RB1CC1, TP536.26
12Lip and oral cavity carcinomaEnrichmentCDKN2A, EGFR, HRAS, KIT, PIK3CA, TP536.24
13Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, FZD2, WNT5A6.09
14Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC26.09
15Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, FZD2, WNT5A6.09
16Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC26.09
17Endometrial cancerEnrichmentATM, BARD1, BRCA1, CDH1, FGFR2, PIK3CA, PTEN5.76
18Breast cancerEnrichmentAKT1, APC, ATM, BARD1, BRCA1, CDH1, JUN, PIK3CA, PTEN, RB1CC1, SHC1, TP535.65
19Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, MET, PIK3CA, TERT, TP535.61
20Junctional epidermolysis bullosaEnrichmentITGA6, ITGB4, LAMA3, LAMB3, LAMC25.56
21Myeloma, multipleEnrichmentATM, BAP1, BARD1, CCND1, FGFR3, FLT3, KMT2C, LATS1, TP53, YAP15.24
22Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB4, LAMA3, LAMB3, LAMC24.93
23Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB4, LAMA3, LAMB3, LAMC24.93
24Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, TERT, TP534.93
25Breast adenocarcinomaEnrichmentAKT1, PIK3CA, RB1CC1, TP534.93
26Lung squamous cell carcinomaEnrichmentCDKN2A, EGFR, FGFR3, PIK3CA4.93
27Prostate cancerEnrichmentATM, BRCA1, CDH1, MAD1L1, PIK3CA, PTEN, TP534.72
28HepatoblastomaEnrichmentAPC, BARD1, CTNNB1, FGFR3, TERT, TP534.57
29Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR34.57
30Osteoporosis, juvenileEnrichmentDKK1, WNT1, WNT3A4.57
31HamartomaEnrichmentFGFR3, TSC1, TSC24.57
32Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A54.57
33Renal cell carcinoma, nonpapillaryEnrichmentATM, BAP1, MET, MTOR, SETD24.25
34Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB2, TSC14.25
35Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS14.25
36GliosarcomaEnrichmentATM, EGFR, FGFR1, FGFR3, TP534.09
37Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA, TEK4.04
38Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, CTNNA1, MAP3K63.97
39Autism spectrum disorderEnrichmentASXL1, CHD8, CSNK2A1, CSNK2B, EED, KDM6A, KMT2C, MAP2K1, PTEN, SETD2, SETD5, TSC23.97
40Giant cell glioblastomaEnrichmentATM, EGFR, FGFR1, FGFR3, TP533.95
41Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA, TEK3.83
42Lung non-small cell carcinomaEnrichmentEGFR, HRAS, MAP2K1, PIK3CA3.64
43Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A53.58
44Exudative vitreoretinopathy 1EnrichmentCTNNB1, LRP5, PRSS233.58
45Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL3, FZD23.58
46Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A53.58
47Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A53.58
48Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB3.58
49Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB23.57
50Tooth agenesisEnrichmentFGFR1, LRP6, TGFA, WNT10A, WNT10B3.38
51Li-fraumeni syndromeEnrichmentCDKN2A, MDM2, TP533.29
52Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN3.29
53Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC23.29
54Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG3.29
55Noonan syndrome 1EnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS13.28
56Lung cancer susceptibility 3EnrichmentACTA2, EGFR, FGF10, TP533.19
57Nevus, epidermalEnrichmentFGFR3, HRAS, PIK3CA3.06
58Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP533.06
59Renal cell carcinoma, papillary, 1EnrichmentATM, MET, MTOR3.06
60Noonan syndrome 3EnrichmentHRAS, RAF1, SOS13.06
61Gallbladder cancerEnrichmentCTNNB1, PIK3CA, TP533.06
62Pilomyxoid astrocytomaEnrichmentFGFR1, NTRK2, RAF13.06
63B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, FLT3, TP533.06
64Van buchem diseaseEnrichmentLRP5, SOST3.04
65Cervical cancerEnrichmentFGFR3, TP533.04
66LymphangioleiomyomatosisEnrichmentTSC1, TSC23.04
67Keratosis, seborrheicEnrichmentFGFR3, PIK3CA3.04
68Pfeiffer syndromeEnrichmentFGFR1, FGFR23.04
69Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.04
70Robinow syndrome, autosomal dominant 3EnrichmentDVL3, FZD23.04
71Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET3.04
72Split hand-foot malformationEnrichmentFGFR2, LEF13.04
73Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA3.04
74Ocular melanomaEnrichmentBAP1, PLCB43.04
75Cervix carcinomaEnrichmentFGFR3, TP533.04
76Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.04
77X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A63.04
78Malignant peritoneal mesotheliomaEnrichmentLATS1, LATS23.04
79RasopathyEnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS13.02
80RhabdomyosarcomaEnrichmentBRCA1, HRAS, PTEN, TP532.95
81Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BRCA1, CTNNA1, CTNNA2, PTEN, TP532.90
82Exudative vitreoretinopathyEnrichmentCTNNB1, LRP5, PRSS232.87
83Melanoma, cutaneous malignant 1EnrichmentBAP1, CDK4, CDKN2A, TERT2.85
84Human immunodeficiency virus type 1EnrichmentCCL2, CCL5, CXCL12, IL102.75
85Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN2.70
86Non-immune hydrops fetalisEnrichmentACTA1, ANGPT2, FLT4, FZD6, HRAS2.66
87Arteriovenous malformations of the brainEnrichmentEGFR, IL6, MAP4K4, NLRP32.66
88Lung cancerEnrichmentACTA2, BRCA1, EGFR, MET, PIK3CA2.60
89Crouzon syndromeEnrichmentFGFR2, FGFR32.57
90Desmoid disease, hereditaryEnrichmentAPC, CTNNB12.57
91Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A42.57
92Tuberous sclerosis 1EnrichmentTSC1, TSC22.57
93Weaver syndromeEnrichmentEZH2, SUZ122.57
94Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP14, MMP22.57
95Anus, imperforateEnrichmentCTNNB1, MAP4K42.57
96Desmoid tumorEnrichmentAPC, CTNNB12.57
97High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC2.57
98Dedifferentiated liposarcomaEnrichmentCDK4, MDM22.57
99Testicular germ cell cancerEnrichmentFGFR3, KIT2.57
100AdenocarcinomaEnrichmentATM, TP532.57
101SpermatocytomaEnrichmentFGFR3, HRAS2.57
102Well-differentiated liposarcomaEnrichmentCDK4, MDM22.57
103Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP532.55
104Meningioma, familialEnrichmentNF2, PDGFB, PTEN2.43
105Uterine corpus cancerEnrichmentATM, BRCA1, PTEN2.43
106MicrocephalyEnrichmentACTB, ACTG1, ASXL1, COL4A1, CTNNB1, IGF1R, KIF23, MAPK1, PAK3, SLC2A12.39
107Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A22.28
108Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K22.28
109Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A42.28
110Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA1, CTNNA12.28
111Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA2.28
112Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND22.28
113Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.28
114Mantle cell lymphomaEnrichmentATM, CCND12.28
115Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K22.28
116Lung sarcomatoid carcinomaEnrichmentTERT, TP532.28
117Malignant epithelioid hemangioendotheliomaEnrichmentWWTR1, YAP12.28
118Chronic myelomonocytic leukemiaEnrichmentASXL1, FLT32.28
119Retinopathy of prematurityEnrichmentLRP5, PRSS232.28
120Tuberous sclerosisEnrichmentTSC1, TSC22.28
121CraniopharyngiomaEnrichmentAPC, CTNNB12.28
122Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.28
123Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A42.28
124Systemic mastocytosis with associated hematologic neoplasmEnrichmentASXL1, KIT2.28
125GliomaEnrichmentFGFR2, PTEN2.28
126Pseudomyogenic hemangioendotheliomaEnrichmentACTB, WWTR12.28
127Osteogenesis imperfecta, type ivEnrichmentSERPINF1, SPARC, WNT12.21
128Nk-cell enteropathyEnrichmentIGF1R, PIK3CB, SETD52.21
129Pancreatic cancerEnrichmentATM, BRCA1, CDKN2A, TP532.21
130Leukemia, acute myeloidEnrichmentASXL1, FLT3, KIT, TERT, TP532.17
131Hydrops fetalis, nonimmuneEnrichmentACTA1, FLT4, FZD6, HRAS2.14
132Multiple sclerosisEnrichmentITGB4, LAMA5, LAMB12.11
133OsteoporosisEnrichmentLRP5, SRC, WNT12.11
134Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.07
135Rhabdomyosarcoma 2EnrichmentFOXO1, TP532.07
136Insulin-like growth factor iEnrichmentIGF1, IGF1R2.07
137Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B-PAK6, MAD1L12.07
138Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.07
139HoloprosencephalyEnrichmentFGF8, FGFR12.07
140Epidermolysis bullosaEnrichmentITGA6, LAMB32.07
141Acute megakaryocytic leukemiaEnrichmentPTEN, TP532.07
142Coloboma of choroid and retinaEnrichmentACTG1, FZD52.07
143Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.07
144Familial porencephalyEnrichmentCOL4A1, COL4A22.07
145HydrocephalusEnrichmentFGFR2, FZD3, PDGFRB2.02
146Melanoma, uvealEnrichmentBAP1, PLCB41.90
147Split-hand/foot malformation 1EnrichmentFGFR2, LEF11.90
148Hemihyperplasia, isolatedEnrichmentIGF2, PIK3CA1.90
149Holoprosencephaly 1EnrichmentFGF8, FGFR11.90
150Type 1 diabetes mellitusEnrichmentIL6, INS1.90
151Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB41.90
152Hemangioma, capillary infantileEnrichmentFLT4, KDR1.90
153Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A21.90
154KeratoconusEnrichmentCOL4A1, TSC11.90
155Clear cell renal cell carcinomaEnrichmentATM, BAP11.90
156Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGB31.90
157Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, TGFB11.90
15846,xy disorder of sex developmentEnrichmentFGFR3, INSR1.90
159Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP61.87
160Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP61.87
161Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR11.80
162Multiple endocrine neoplasia, type iEnrichmentCDKN1A, MAP4K21.76
163Thyroid cancer, nonmedullary, 2EnrichmentHRAS, PTEN1.76
164Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA1.76
165Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA1.76
166Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK11.76
167Follicular thyroid carcinomaEnrichmentHRAS, PTEN1.76
168Overgrowth syndromeEnrichmentCHD8, MTOR1.76
169Diffuse large b-cell lymphomaEnrichmentFOXO1, PTEN, TP531.73
170CraniosynostosisEnrichmentCTNNA1, FGFR2, FGFR31.67
171Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF11.65
172Glioma susceptibility 1EnrichmentBAP1, TP531.65
173Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB1.65
174Mosaic variegated aneuploidy syndromeEnrichmentBUB1B-PAK6, MAD1L11.65
175Isolated split hand-split foot malformationEnrichmentBTRC, WNT10B1.65
176Skin diseaseEnrichmentITGB4, LAMB3, LAMC21.56
177Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentASXL1, FLT31.55
178Ventricular septal defectEnrichmentRPS6KA3, TEK1.55
179Colonic benign neoplasmEnrichmentAPC, ATM1.55
180Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.52
181Brachydactyly, type b1EnrichmentROR21.52
182HypochondroplasiaEnrichmentFGFR31.52
183Chiari malformation type iEnrichmentDKK11.52
184MacrodactylyEnrichmentPIK3CA1.52
185Proteus syndromeEnrichmentAKT11.52
186Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.52
187Osteoglophonic dysplasiaEnrichmentFGFR11.52
188Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.52
189Craniodiaphyseal dysplasia, autosomal dominantEnrichmentSOST1.52
190Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.52
191Mullerian aplasia and hyperandrogenismEnrichmentWNT41.52
192Thanatophoric dysplasia, type iEnrichmentFGFR31.52
193Trigonocephaly 1EnrichmentFGFR11.52
194Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.52
195Donohue syndromeEnrichmentINSR1.52
196Spinocerebellar ataxia 27aEnrichmentFGF141.52
197Baraitser-winter syndrome 1EnrichmentACTB1.52
198Coffin-lowry syndromeEnrichmentRPS6KA31.52
199Muenke syndromeEnrichmentFGFR31.52
200Vacterl association with hydrocephalusEnrichmentPTEN1.52
201Intellectual developmental disorder, x-linked 30EnrichmentPAK31.52
202Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.52
203Alport syndrome 1, x-linkedEnrichmentCOL4A51.52
204Bone mineral density quantitative trait locus 1EnrichmentLRP51.52
205Exudative vitreoretinopathy 4EnrichmentLRP51.52
206Sclerosteosis 1EnrichmentSOST1.52
207Kabuki syndrome 2EnrichmentKDM6A1.52
208Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.52
209Focal dermal hypoplasiaEnrichmentPORCN1.52
210Noonan syndrome 5EnrichmentRAF11.52
211Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.52
212Hypomagnesemia 4, renalEnrichmentEGF1.52
213Cinca syndromeEnrichmentNLRP31.52
214Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.52
215Noonan syndrome 4EnrichmentSOS11.52
216Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.52
217Macular dystrophy, patterned, 2EnrichmentCTNNA11.52
218Keratoendotheliitis fugax hereditariaEnrichmentNLRP31.52
21946,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.52
220Melanoma, cutaneous malignant 3EnrichmentCDK41.52
221Deafness, autosomal recessive 39EnrichmentHGF1.52
222Mastocytosis, cutaneousEnrichmentKIT1.52
223Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.52
224Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.52
225Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB11.52
226Melanoma, uveal 2EnrichmentBAP11.52
227Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.52
228Melorheostosis, isolatedEnrichmentMAP2K11.52
229Megalencephaly, autosomal dominantEnrichmentPIK3CA1.52
230Omodysplasia 2EnrichmentFZD21.52
231Schwannomatosis, vestibularEnrichmentNF21.52
232Apert syndromeEnrichmentFGFR21.52
233Cardiomyopathy, dilated, 1jjEnrichmentLAMA41.52
234Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP11.52
235Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.52
236Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.52
237Memory quantitative trait locusEnrichmentWWC11.52
238Familial cold autoinflammatory syndrome 1EnrichmentNLRP31.52
239Cardiomyopathy, dilated, 1nnEnrichmentRAF11.52
240Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.52
241Cowden syndrome 5EnrichmentPIK3CA1.52
242Parkinson disease 18, autosomal dominantEnrichmentEIF4G11.52
243Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.52
244Split-hand/foot malformation 6EnrichmentWNT10B1.52
245Myofibromatosis, infantile, 1EnrichmentPDGFRB1.52
246Nemaline myopathy 5a, autosomal recessive, severe infantileEnrichmentTNNT11.52
247Tooth agenesis, selective, 7EnrichmentLRP61.52
248Thanatophoric dysplasia, type iiEnrichmentFGFR31.52
249You-hoover-fong syndromeEnrichmentTELO21.52
250Myopathy, scapulohumeroperonealEnrichmentACTA11.52
251Caudal duplication anomalyEnrichmentAXIN11.52
252Lissencephaly 5EnrichmentLAMB11.52
253Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.52
254Tooth agenesis, selective, 8EnrichmentWNT10B1.52
255Vesicoureteral reflux 3EnrichmentSOX171.52
256Microcephaly 11, primary, autosomal recessiveEnrichmentPHC11.52
257Ectodermal dysplasia 13, hair/tooth typeEnrichmentKREMEN11.52
258Intellectual developmental disorder, autosomal dominant 23EnrichmentSETD51.52
25946,xy sex reversal 6EnrichmentMAP3K11.52
260Gist-plus syndromeEnrichmentPDGFRA1.52
261Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.52
262Accelerated tumor formationEnrichmentMDM21.52
263Aplasia of lacrimal and salivary glandsEnrichmentFGF101.52
264Arrhythmogenic right ventricular dysplasia, familial, 13EnrichmentCTNNA31.52
265Bent bone dysplasia syndrome 1EnrichmentFGFR21.52
266Muckle-wells syndromeEnrichmentNLRP31.52
267Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.52
268Exudative vitreoretinopathy 8EnrichmentLRP61.52
269Angioedema, hereditary, 5EnrichmentANGPT11.52
270Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.52
271Luo-schoch-yamamoto syndromeEnrichmentRNF21.52
272Cerebral cavernous malformations 4EnrichmentPIK3CA1.52
273Pyle diseaseEnrichmentSFRP41.52
274Noonan syndrome 13EnrichmentMAPK11.52
275Deafness, autosomal recessive 108EnrichmentROR11.52
276Deafness, autosomal dominant 34, with or without inflammationEnrichmentNLRP31.52
277Nephrotic syndrome, type 26EnrichmentLAMA51.52
278Developmental and epileptic encephalopathy 58EnrichmentNTRK21.52
279Neurodevelopmental disorder with microcephaly and movement abnormalitiesEnrichmentTTI11.52
280Deafness, x-linked 6EnrichmentCOL4A61.52
281Intellectual developmental disorder, x-linked 110EnrichmentFGF131.52
282Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.52
283Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.52
284Intellectual developmental disorder, autosomal dominant 70EnrichmentSETD21.52
285Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.52
286Knobloch syndrome 2EnrichmentPAK21.52
287Cortical dysplasia, complex, with other brain malformations 9EnrichmentCTNNA21.52
288Lessel-kubisch syndromeEnrichmentMDM21.52
289Bone marrow failure syndrome 6EnrichmentMDM41.52
290Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.52
291Bone marrow failure syndrome 5EnrichmentTP531.52
292Hereditary lymphedema idEnrichmentVEGFC1.52
293Winchester syndromeEnrichmentMMP141.52
294Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.52
295Osteofibrous dysplasiaEnrichmentMET1.52
296Diarrhea 9EnrichmentWNT2B1.52
297Graft-versus-host diseaseEnrichmentIL101.52
298Papilloma of choroid plexusEnrichmentTP531.52
299Auriculocondylar syndrome 2aEnrichmentPLCB41.52
300Basal cell carcinoma 7EnrichmentTP531.52
301PorencephalyEnrichmentCOL4A11.52
302Imagawa-matsumoto syndromeEnrichmentSUZ121.52
303Intellectual developmental disorder, x-linked 106EnrichmentOGT1.52
304Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.52
305Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.52
306Anaplastic thyroid carcinomaEnrichmentTP531.52
307Developmental and epileptic encephalopathy 90EnrichmentFGF131.52
308Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.52
309Infant-type hemispheric gliomaEnrichmentBRCA11.52
310Lymphatic malformation 4EnrichmentVEGFC1.52
311Intellectual developmental disorder, autosomal recessive 54EnrichmentTNIK1.52
312Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.52
313Papillary tumor of the pineal regionEnrichmentPTEN1.52
314Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP11.52
315Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.52
316Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.52
317Familial isolated trichomegalyEnrichmentFGF51.52
318Coronary artery disease, autosomal dominant 2EnrichmentLRP61.52
319Bone mineral density quantitative trait locus 16EnrichmentWNT11.52
320Deafness, autosomal recessive 97EnrichmentMET1.52
321Microvascular complications of diabetes 1EnrichmentVEGFA1.52
322Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.52
323Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.52
324Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.52
325Thrombocytopenia 4EnrichmentCYCS1.52
326Hemifacial myohyperplasiaEnrichmentPIK3CA1.52
327Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.52
328Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.52
329Santos syndromeEnrichmentWNT7A1.52
330Becker nevus syndromeEnrichmentACTB1.52
331Hypotrichosis and recurrent skin vesiclesEnrichmentDSC31.52
332MelorheostosisEnrichmentMAP2K11.52
333Dystonia-deafness syndrome 1EnrichmentACTB1.52
334Autism 9EnrichmentMET1.52
335Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.52
336Leopard syndrome 2EnrichmentRAF11.52
337Coronary heart disease 6EnrichmentMMP31.52
338Multiple synostoses syndrome 3EnrichmentFGF91.52
339Glaucoma 1, open angle, oEnrichmentNTF41.52
340Cortical malformations, occipitalEnrichmentLAMC31.52
341Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.52
342Immunodeficiency 31aEnrichmentSTAT11.52
343Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.52
344Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.52
345Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.52
346Polydactyly-macrocephaly syndromeEnrichmentMAX1.52
347Cowden syndrome 6EnrichmentAKT11.52
348Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.52
349Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.52
350Autosomal dominant familial visceral neuropathyEnrichmentACTG21.52
351Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.52
352Microphthalmia/coloboma 11EnrichmentFZD51.52
353Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.52
354Endometrial serous adenocarcinomaEnrichmentATM1.52
355Immunodeficiency 31bEnrichmentSTAT11.52
356Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.52
357Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.52
358Glioma susceptibility 2EnrichmentPTEN1.52
359Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.52
360Ductal carcinoma in situEnrichmentTP531.52
361Kosaki overgrowth syndromeEnrichmentPDGFRB1.52
362Kleefstra syndrome 2EnrichmentKMT2C1.52
363Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.52
364Hartsfield syndromeEnrichmentFGFR11.52
365Congenital heart defects, multiple types, 7EnrichmentFLT41.52
366Renal hypodysplasia/aplasia 2EnrichmentFGF201.52
367Thrombocytopenia 6EnrichmentSRC1.52
368Cohen-gibson syndromeEnrichmentEED1.52
369Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.52
370Glaucoma 3, primary congenital, eEnrichmentTEK1.52
371Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.52
372Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.52
373Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.52
374Developmental and epileptic encephalopathy 47EnrichmentFGF121.52
375Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.52
376Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentPIGF1.52
377Nemaline myopathy 5b, autosomal recessive, childhood-onsetEnrichmentTNNT11.52
378Chronic mast cell leukemiaEnrichmentKIT1.52
379Autosomal recessive dyskeratosis congenita 4EnrichmentTERT1.52
380TrigonitisEnrichmentRAF11.52
381Bent bone dysplasia syndrome 2EnrichmentLAMA51.52
382Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.52
383Thyroid gland undifferentiated carcinomaEnrichmentTP531.52
384Auriculocondylar syndrome 2bEnrichmentPLCB41.52
385Tufted angioma of skinEnrichmentKDR1.52
386Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.52
387Deafness, autosomal dominant 69EnrichmentKITLG1.52
388Luscan-lumish syndromeEnrichmentSETD21.52
389Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.52
390Hereditary hypotrichosis with recurrent skin vesiclesEnrichmentDSC31.52
391Adenoid ameloblastomaEnrichmentCTNNB11.52
392Arthrogryposis, distal, type 11EnrichmentMET1.52
393Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.52
394Baraitser-winter syndromeEnrichmentACTB1.52
395Rabin-pappas syndromeEnrichmentSETD21.52
396Cdkn2a cancer predispositionEnrichmentCDKN2A1.52
397Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L11.52
398Csf1r-related disorderEnrichmentCSF1R1.52
399Immunodeficiency 125EnrichmentFLT3LG1.52
400Col4a1-related disordersEnrichmentCOL4A11.52
401Occipital pachygyria and polymicrogyriaEnrichmentLAMC31.52
402Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.52
403Nemaline myopathy 5aEnrichmentTNNT11.52
404Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.52
405HypospadiasEnrichmentPIK3CA1.52
406Bockenheimer syndromeEnrichmentTEK1.52
407Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.52
408Lrp5-related primary osteoporosisEnrichmentLRP51.52
409Capillary hemangiomaEnrichmentAKT31.52
410Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.52
411Pulmonary hypertension, primary, 7EnrichmentSOX171.52
412Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.52
413Autoimmune disease, multisystem, infantile-onset, 5EnrichmentCD2741.52
414Breast lobular carcinomaEnrichmentCDH11.52
415Isolated bone marrow mastocytosisEnrichmentKIT1.52
416B-cell non-hodgkin lymphomaEnrichmentATM1.52
417Smoldering systemic mastocytosisEnrichmentKIT1.52
418Cerebral cavernous malformations 5EnrichmentMAP3K31.52
419Choroid plexus cancerEnrichmentTP531.52
420Rare venous malformationEnrichmentPIK3CA1.52
421Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.52
422Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A11.52
423Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.52
424Familial adenomatous polyposisEnrichmentAPC1.52
425Zebra body myopathyEnrichmentACTA11.52
426Spinocerebellar ataxia type 27bEnrichmentFGF141.52
427Diaphragmatic eventrationEnrichmentPIK3CA1.52
428Fgfr3-related chondrodysplasiaEnrichmentFGFR31.52
429Acoustic neuromaEnrichmentNF21.52
430Congenital smooth muscle hamartomaEnrichmentACTB1.52
431X-linked alport syndromeEnrichmentCOL4A51.52
432MastocytosisEnrichmentKIT1.52
433Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.52
434Congenital primary lymphedema of gordonEnrichmentVEGFC1.52
435Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.52
436Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.52
437Epilepsy with myoclonic absencesEnrichmentSLC2A11.52
438Cryopyrin associated periodic syndromeEnrichmentNLRP31.52
439Familial progressive hyperpigmentationEnrichmentKITLG1.52
440Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.52
441Pleomorphic xanthoastrocytomaEnrichmentTP531.52
442Rare combined vascular malformationEnrichmentPIK3CA1.52
443Cavernous lymphangiomaEnrichmentPIK3CA1.52
444Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.52
445Cleft lipEnrichmentSETD51.52
446Cutaneous mastocytomaEnrichmentKIT1.52
447Familial amyloid nephropathy with urticaria and deafnessEnrichmentNLRP31.52
448Gardner syndromeEnrichmentAPC1.52
449Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.52
450Typical urticaria pigmentosaEnrichmentKIT1.52
4515q22 microdeletion syndromeEnrichmentAPC1.52
452Phakomatosis pigmentokeratoticaEnrichmentHRAS1.52
453Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.52
454Actin-accumulation myopathyEnrichmentACTA11.52
455Attenuated familial adenomatous polyposisEnrichmentAPC1.52
456Nodular urticaria pigmentosaEnrichmentKIT1.52
457Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.52
458Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.52
459Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.52
460Verrucous hemangiomaEnrichmentMAP3K31.52
461Lama5-related multisystemic syndromeEnrichmentLAMA51.52
462Telangiectasia macularis eruptiva perstansEnrichmentKIT1.52
463Acute mast cell leukemiaEnrichmentKIT1.52
464Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.52
465Myopathic intestinal pseudoobstructionEnrichmentACTG21.52
466Eccrine angiomatous hamartomaEnrichmentPIK3CA1.52
467Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.52
468Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.52
469Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.52
470Plaque-form urticaria pigmentosaEnrichmentKIT1.52
471Interstitial lung disease specific to childhoodEnrichmentFGF101.52
472Macrodactyly of toeEnrichmentPIK3CA1.52
473Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.52
474Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.52
475Microcystic stromal tumorEnrichmentCTNNB11.52
476Primary peritoneal carcinomaEnrichmentBRCA11.52
477Actg2 visceral myopathyEnrichmentACTG21.52
478Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA21.52
479Akt2-related familial partial lipodystrophyEnrichmentAKT21.52
480Testis seminomaEnrichmentKIT1.52
481Brittle bone disorderEnrichmentLRP5, SERPINF1, WNT11.51
482Kallmann syndromeEnrichmentFGF17, FGF8, FGFR11.51
483Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, FLT3, MYC1.51
484Cat eye syndromeEnrichmentACTG1, FZD51.46
485PolymicrogyriaEnrichmentAKT3, SETD51.46
486MelanomaEnrichmentCDKN2A, PTEN1.46
487Type 2 diabetes mellitusEnrichmentAKT2, IL6, INSR, TCF7L21.43
488Distal arthrogryposisEnrichmentACTA1, ACTC1, FZD3, ROR21.43
489Leukemia, acute lymphoblasticEnrichmentCDKN2A, FLT31.38
490Myelodysplastic syndromeEnrichmentASXL1, TP531.38
491Specific learning disabilityEnrichmentMAPK1, RPS6KA31.38
492West syndromeEnrichmentCSNK1E, NTRK2, SLC2A1, TSC21.37
493Differentiated thyroid carcinomaEnrichmentHRAS, NTRK1, TERT1.25
494Microphthalmia/coloboma 12EnrichmentFZD5, YAP11.25
495Breast-ovarian cancer, familial 1EnrichmentATM, BRCA11.25
496Chronic kidney diseaseEnrichmentCOL4A4, COL4A51.25
497Lymphatic malformation 1EnrichmentFLT41.23
498Amelogenesis imperfecta, type iaEnrichmentLAMB31.23
499Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.23
500Blepharocheilodontic syndrome 1EnrichmentCDH11.23
501Leukocyte adhesion deficiency, type iEnrichmentITGB21.23
502Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.23
503Burkitt lymphomaEnrichmentMYC1.23
504Blue rubber bleb nevusEnrichmentTEK1.23
505Sveinsson chorioretinal atrophyEnrichmentTEAD11.23
506Anemia, congenital dyserythropoietic, type iiiaEnrichmentKIF231.23
507Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.23
508Fibromatosis, gingival, 1EnrichmentSOS11.23
509Otodental dysplasiaEnrichmentFGF31.23
510Scoliosis, isolated 1EnrichmentMAPK71.23
511Tooth agenesis, selective, 4EnrichmentWNT10A1.23
512Adrenocortical carcinoma, hereditaryEnrichmentTP531.23
513Camurati-engelmann disease 1EnrichmentTGFB11.23
514Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.23
515Costello syndromeEnrichmentHRAS1.23
516Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.23
517Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.23
518TrichomegalyEnrichmentFGF51.23
519Craniodiaphyseal dysplasiaEnrichmentSOST1.23
520Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA31.23
521Schopf-schulz-passarge syndromeEnrichmentWNT10A1.23
522Intracranial hypertension, idiopathicEnrichmentFLT41.23
523Kyphomelic dysplasiaEnrichmentCCN21.23
524Myasthenic syndrome, congenital, 5EnrichmentLAMB21.23
525Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.23
526Bladder exstrophy and epispadias complexEnrichmentWNT31.23
527Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.23
528Dystonia 9EnrichmentSLC2A11.23
529Pulmonary hypoplasia, primaryEnrichmentFGF101.23
530Quebec platelet disorderEnrichmentPLAU1.23
531Dermatofibrosarcoma protuberansEnrichmentPDGFB1.23
532Odontoonychodermal dysplasiaEnrichmentWNT10A1.23
533Pulmonic stenosisEnrichmentSOS11.23
534Tetraamelia syndrome 1EnrichmentWNT31.23
535Histiocytoma, angiomatoid fibrousEnrichmentCREB11.23
536Aortic aneurysm, familial thoracic 2EnrichmentACTA21.23
537Cardiomyopathy, dilated, 1rEnrichmentACTC11.23
538Schwannomatosis 1EnrichmentNF21.23
539Piebald traitEnrichmentKIT1.23
540Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.23
541Aural atresia, congenitalEnrichmentFGFR21.23
542Glut1 deficiency syndrome 1EnrichmentSLC2A11.23
543Deafness, autosomal dominant 20EnrichmentACTG11.23
544Cardiomyopathy, familial hypertrophic, 11EnrichmentACTC11.23
545Osteogenesis imperfecta, type xvEnrichmentWNT11.23
546Smooth muscle dysfunction syndromeEnrichmentACTA21.23
547Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.23
548Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.23
549Lissencephaly 1EnrichmentLAMB11.23
550Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.23
551Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.23
552Aortic aneurysm, familial thoracic 6EnrichmentACTA21.23
553Roifman-chitayat syndromeEnrichmentPIK3CD1.23
554Baraitser-winter syndrome 2EnrichmentACTG11.23
555Specific language impairment 5EnrichmentCOL4A41.23
556Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT1.23
557Silver-russell syndrome 3EnrichmentIGF21.23
558Angioma, tuftedEnrichmentKDR1.23
559Maturity-onset diabetes of the young, type 10EnrichmentINS1.23
560Moyamoya disease 5EnrichmentACTA21.23
561Noonan syndrome 8EnrichmentPIK3CA1.23
562Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.23
563Pierson syndromeEnrichmentLAMB21.23
564Lymphoma, hodgkin, classicEnrichmentTP531.23
565Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.23
566Atrial septal defect 5EnrichmentACTC11.23
567Immunodeficiency 31cEnrichmentSTAT11.23
568Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.23
569Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.23
570Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.23
571Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG11.23
572Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A21.23
573Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC21.23
574Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC21.23
575Gabriele-de vries syndromeEnrichmentYY11.23
576Waardenburg syndrome, type 2fEnrichmentKITLG1.23
577HyperproinsulinemiaEnrichmentINS1.23
578Nemaline myopathy 5c, autosomal dominantEnrichmentTNNT11.23
579Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA31.23
580Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.23
581Fanconi anemia, complementation group sEnrichmentBRCA11.23
582Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.23
583Cardiac valvular dysplasia, x-linkedEnrichmentATM1.23
584Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.23
585Cebalid syndromeEnrichmentMTOR1.23
586Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.23
587Infantile myofibromatosisEnrichmentPDGFRB1.23
588Bohring-opitz syndromeEnrichmentASXL11.23
589Intravascular large b-cell lymphomaEnrichmentBCL21.23
590Retinitis pigmentosa 14EnrichmentTEAD31.23
591Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB21.23
592Pancreatic cancer 4EnrichmentBRCA11.23
593SclerosteosisEnrichmentSOST1.23
594Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.23
595Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.23
596Senior-loken syndrome 7EnrichmentAKT31.23
597Kleefstra syndromeEnrichmentKMT2C1.23
598Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.23
599Osteogenesis imperfecta, type xviiEnrichmentSPARC1.23
600Papillary renal cell carcinomaEnrichmentMET1.23
601Camurati-engelmann diseaseEnrichmentTGFB11.23
602Congenital fibrosarcomaEnrichmentTP531.23
603GlomerulonephritisEnrichmentCOL4A41.23
604Metaphyseal anadysplasia 2EnrichmentMMP91.23
605High grade gliomaEnrichmentATM1.23
606Li-fraumeni syndrome 1EnrichmentTP531.23
607SarcomaEnrichmentTP531.23
608Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.23
609Pericardial effusionEnrichmentNLRP31.23
610Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.23
611Developmental and epileptic encephalopathy 78EnrichmentYY11.23
612Melanoma, cutaneous malignant 9EnrichmentTERT1.23
613Periampullary adenomaEnrichmentAPC1.23
614Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.23
615Immune system diseaseEnrichmentPIK3CD1.23
616Hodgkin's lymphomaEnrichmentTP531.23
617Bardet-biedl syndrome 16EnrichmentAKT31.23
618InsulinomaEnrichmentYY11.23
619T-cell prolymphocytic leukemiaEnrichmentATM1.23
620Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA31.23
621Smith-kingsmore syndromeEnrichmentMTOR1.23
62214q11.2 microduplication syndromeEnrichmentCHD81.23
623Hereditary lymphedema iEnrichmentFLT41.23
624Idiopathic interstitial pneumoniaEnrichmentTERT1.23
625Inflammatory breast carcinomaEnrichmentBRCA11.23
6263p25.3 microdeletion syndromeEnrichmentSETD51.23
627Acute myeloid leukemia without maturationEnrichmentFLT31.23
628Lymphatic malformation 10EnrichmentANGPT21.23
629Kury-isidor syndromeEnrichmentBAP11.23
630Interfrontal craniofaciosynostosisEnrichmentFGFR11.23
631Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.23
632Metaphyseal anadysplasiaEnrichmentMMP91.23
633Peritoneum cancerEnrichmentBRCA11.23
634Charcot-marie-tooth disease type 4dEnrichmentNDRG11.23
635Bilateral breast cancerEnrichmentBRCA11.23
636Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.23
637Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.23
638Chronic eosinophilic leukemiaEnrichmentPDGFRA1.23
639Vacterl with hydrocephalusEnrichmentPTEN1.23
640Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.23
6413q26 microduplication syndromeEnrichmentSETD51.23
642Kleefstra syndrome due to a point mutationEnrichmentKMT2C1.23
643TeratomaEnrichmentCTNNB11.23
644B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.23
645OsteosclerosisEnrichmentLRP51.23
646Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.23
647Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.23
648B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.23
649Common variable immunodeficiency 12EnrichmentNFKB11.23
650Juvenile polyposis of infancyEnrichmentPTEN1.23
651Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.23
652Pleomorphic rhabdomyosarcomaEnrichmentTP531.23
653Tafro syndromeEnrichmentMAP2K21.23
654Oculootodental syndromeEnrichmentFGF31.23
655Intestinal obstructionEnrichmentACTG21.23
656Wooly hair nevusEnrichmentHRAS1.23
657Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.23
658MedulloblastomaEnrichmentAPC, CTNNB11.19
659Cleft lip/palateEnrichmentCDH1, PDGFRA1.19
66046,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS11.19
661Isolated macular dystrophyEnrichmentCOL4A5, ITGA41.19
662Primary autosomal recessive microcephalyEnrichmentANGPT2, CIT, PHC11.15
663Coloboma of maculaEnrichmentFZD5, YAP11.13
664Corpus callosum, agenesis ofEnrichmentCOL4A1, SETD21.13
665Osteogenesis imperfecta, type iiiEnrichmentSERPINF1, WNT11.13
666Isolated corpus callosum agenesisEnrichmentCOL4A1, SETD21.13
667Rare genetic intellectual disabilityEnrichmentCHD8, MTOR1.13
668Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A1, SETD21.13
669Familial hypertrophic cardiomyopathyEnrichmentACTC1, PRKAG2, RAF11.12
670HypertensionEnrichmentCOL4A4, COL4A51.08
671Microform holoprosencephalyEnrichmentFGF8, FGFR11.08
672Lobar holoprosencephalyEnrichmentFGF8, FGFR11.08
673Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.06
674AchondroplasiaEnrichmentFGFR31.06
675Type 1 diabetes mellitus 2EnrichmentINS1.06
676Prognathism, mandibularEnrichmentCSNK2B1.06
677Retinal arteries, tortuosity ofEnrichmentCOL4A11.06
678Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.06
679Larsen syndromeEnrichmentFGFR31.06
680Thyroid carcinoma, familial medullaryEnrichmentNTRK11.06
681Mesothelioma, malignantEnrichmentBAP11.06
682Ataxia-telangiectasiaEnrichmentATM1.06
683Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.06
684Bleeding disorder, platelet-type, 16EnrichmentITGB31.06
685Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.06
686Polycythemia veraEnrichmentATM1.06
687Pompe disease, infantile-onsetEnrichmentPIK3CA1.06
688Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentHCFC11.06
689Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.06
690Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.06
691Microphthalmia, syndromic 9EnrichmentWNT7B1.06
692Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.06
693Tooth agenesis, selective, 2EnrichmentWNT10A1.06
694Osteopetrosis, autosomal dominant 1EnrichmentLRP51.06
695Glomerulopathy with fibronectin deposits 2EnrichmentFN11.06
696Nuchal bleb, familialEnrichmentSOS11.06
697Langerhans cell histiocytosisEnrichmentMAP2K11.06
698Osteogenic sarcomaEnrichmentTP531.06
699Glut1 deficiency syndrome 2EnrichmentSLC2A11.06
700Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA21.06
701Nasopharyngeal carcinomaEnrichmentTP531.06
702Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA1.06
703Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.06
704Tuberous sclerosis 2EnrichmentTSC21.06
705Brain small vessel disease 2EnrichmentCOL4A21.06
706Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.06
707Cenani-lenz syndactyly syndromeEnrichmentAPC1.06
708Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.06
709Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD1.06
710Osteogenesis imperfecta, type viEnrichmentSERPINF11.06
711Tumor predisposition syndrome 1EnrichmentBAP11.06
712Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.06
713Exudative vitreoretinopathy 7EnrichmentCTNNB11.06
714Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.06
715Pilarowski-bjornsson syndromeEnrichmentCOL4A31.06
716Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.06
717Large congenital melanocytic nevusEnrichmentHRAS1.06
718Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK11.06
719Koolen-de vries syndromeEnrichmentATM1.06
720Poretti-boltshauser syndromeEnrichmentLAMA11.06
721Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.06
722Interstitial lung diseaseEnrichmentTERT1.06
723Nail diseaseEnrichmentFZD61.06
724Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.06
725Atypical teratoid rhabdoid tumorEnrichmentTP531.06
726Anaplastic astrocytomaEnrichmentTP531.06
727Xanthinuria, type iiEnrichmentTSC21.06
728Immunodeficiency 14EnrichmentPIK3CD1.06
729Myxoid liposarcomaEnrichmentDDIT31.06
730Squamous cell carcinomaEnrichmentTP531.06
731Cellular ependymomaEnrichmentNF21.06
732Tanycytic ependymomaEnrichmentNF21.06
733Macrocytic anemiaEnrichmentTERT1.06
734Papillary ependymomaEnrichmentNF21.06
735T-cell acute lymphoblastic leukemiaEnrichmentBAX1.06
736Hematuria, benign familial, 2EnrichmentCOL4A31.06
737Familial vesicoureteral refluxEnrichmentSOX171.06
738Microcephaly 17, primary, autosomal recessiveEnrichmentCIT1.06
739Laryngeal squamous cell carcinomaEnrichmentPTEN1.06
740Bone osteosarcomaEnrichmentTP531.06
741Bap1 tumor predisposition syndromeEnrichmentBAP11.06
742Butterfly-shaped pigment dystrophyEnrichmentCTNNA11.06
743Atypical juvenile parkinsonismEnrichmentPODXL1.06
744Tetraamelia syndromeEnrichmentWNT31.06
745Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.06
746Colon adenocarcinomaEnrichmentAPC1.06
747Bleeding disorder, platelet-type, 24EnrichmentITGB31.06
748Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.06
749Melanoma of soft tissueEnrichmentCREB11.06
750Spindle cell sarcomaEnrichmentNF21.06
751Mixed phenotype acute leukemia with tEnrichmentFLT31.06
752Clear cell ependymomaEnrichmentNF21.06
753Renal cell carcinomaEnrichmentMET1.06
754EnchondromatosisEnrichmentHIF1A1.06
755Testicular cancerEnrichmentFGFR31.06
756KeratoacanthomaEnrichmentPIK3CA1.06
757Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.06
758Apc-associated polyposis conditionsEnrichmentAPC1.06
759Lama2-related muscular dystrophyEnrichmentLAMA21.06
760Alzheimer disease, familial, 1EnrichmentCSF1R, PLAU1.04
761Dandy-walker syndromeEnrichmentPDGFRB, SETD21.04
762Semilobar holoprosencephalyEnrichmentFGF8, FGFR11.00
763Cerebral palsyEnrichmentCOL4A1, COL4A2, PDGFRB0.95
764Kaposi sarcomaEnrichmentIL60.94
765Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS0.94
766Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL20.94
767Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A0.94
768Small cell cancer of the lungEnrichmentTP530.94
769Nemaline myopathy 2EnrichmentACTA10.94
770Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG20.94
771SchizencephalyEnrichmentCOL4A10.94
772Thyroid cancer, nonmedullary, 1EnrichmentTP530.94
773Autoimmune lymphoproliferative syndromeEnrichmentACTA20.94
774Neurofibromatosis-noonan syndromeEnrichmentMAP2K20.94
775Auriculocondylar syndrome 1EnrichmentPLCB40.94
776Glaucoma 3, primary infantile, bEnrichmentTEK0.94
777Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK10.94
778Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB40.94
779PilomatrixomaEnrichmentCTNNB10.94
780Retinitis pigmentosa 26EnrichmentITGA40.94
781CholangiocarcinomaEnrichmentBRCA10.94
782Barrett esophagusEnrichmentCTHRC10.94
783Aminoacylase 1 deficiencyEnrichmentACTB0.94
784Alazami syndromeEnrichmentCTNNB10.94
785EnophthalmosEnrichmentCSNK2B0.94
786Multiple synostoses syndromeEnrichmentFGF90.94
787SyndactylyEnrichmentCSNK2B0.94
788Neonatal diabetes mellitusEnrichmentINS0.94
789Intellectual developmental disorder with autism and macrocephalyEnrichmentCHD80.94
790Orofacial cleftEnrichmentLRP60.94
791Ectodermal dysplasiaEnrichmentWNT10A0.94
792Ciliary dyskinesia, primary, 22EnrichmentRASSF10.94
793Cerebrovascular diseaseEnrichmentPIK3CA0.94
794Embryonal rhabdomyosarcomaEnrichmentTP530.94
795Noonan syndrome with multiple lentiginesEnrichmentRAF10.94
796Epidermolytic nevusEnrichmentHRAS0.94
797Familial cerebral cavernous malformationsEnrichmentPIK3CA0.94
798Knobloch syndromeEnrichmentPAK20.94
799Eyelid colobomaEnrichmentFZD50.94
800Silver-russell syndrome due to a point mutationEnrichmentIGF20.94
801Non-syndromic bicoronal craniosynostosisEnrichmentFGFR30.94
802Full schwannomatosisEnrichmentNF20.94
803Intermediate nemaline myopathyEnrichmentACTA10.94
804Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.94
805VitreoretinopathyEnrichmentLRP50.94
806Benign ependymomaEnrichmentNF20.94
807Orofacial clefting syndromeEnrichmentLRP60.94
808Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A60.94
809Gingival fibromatosisEnrichmentSOS10.94
810Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT10.94
811Oculomotor apraxiaEnrichmentATM0.94
812Lens colobomaEnrichmentFZD50.94
813Macs syndromeEnrichmentPORCN, WNT7B0.92
814Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A50.92
815Cataract 6, multiple typesEnrichmentEPHA20.85
816Capillary malformations, congenitalEnrichmentPIK3CA0.85
817Enchondromatosis, multiple, ollier typeEnrichmentHIF1A0.85
818Alzheimer disease 2EnrichmentPLAU0.85
819Kbg syndromeEnrichmentSETD50.85
820Visceral myopathy 1EnrichmentACTG20.85
821Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB40.85
822Von hippel-lindau syndromeEnrichmentCCND10.85
823Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT20.85
824Congenital myopathy 3 with rigid spineEnrichmentACTA10.85
825Parkinson disease 2, autosomal recessive juvenileEnrichmentPODXL0.85
826Norrie diseaseEnrichmentPRSS230.85
827Macrocephaly/autism syndromeEnrichmentPTEN0.85
828Rheumatoid arthritis, systemic juvenileEnrichmentIL60.85
829Myasthenic syndrome, congenital, 4a, slow-channelEnrichmentMINK10.85
830Knobloch syndrome 1EnrichmentPAK20.85
831Breast-ovarian cancer, familial 2EnrichmentBRCA10.85
832Familial adenomatous polyposis 1EnrichmentAPC0.85
833Cholangitis, primary sclerosingEnrichmentMST10.85
834Glanzmann thrombasthenia 2EnrichmentITGB30.85
835Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA20.85
836Pre-eclampsiaEnrichmentFLT10.85
837Follicular lymphomaEnrichmentBCL20.85
838LymphomaEnrichmentTP530.85
839Congenital ptosisEnrichmentCHD80.85
840Myasthenic syndrome, congenital, 4b, fast-channelEnrichmentMINK10.85
841GlioblastomaEnrichmentATM0.85
842HemangiomaEnrichmentPTEN0.85
843Parkin type of early-onset parkinson diseaseEnrichmentPODXL0.85
844Aplasia cutis congenitaEnrichmentITGB40.85
845Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A0.85
846Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS0.85
847AniridiaEnrichmentEPHA20.85
848Aggressive systemic mastocytosisEnrichmentASXL10.85
849Diffuse cutaneous systemic sclerosisEnrichmentCCN20.85
850Endometrial stromal sarcomaEnrichmentSUZ120.85
851Severe congenital nemaline myopathyEnrichmentACTA10.85
852Idiopathic aplastic anemiaEnrichmentTERT0.85
853Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT0.78
854Klippel-trenaunay-weber syndromeEnrichmentPIK3CA0.78
855Coloboma of optic nerveEnrichmentFZD50.78
856Kabuki syndrome 1EnrichmentKDM6A0.78
857Weyers acrofacial dysostosisEnrichmentCTNNB10.78
858Wolf-hirschhorn syndromeEnrichmentCTBP10.78
859Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.78
860Moyamoya disease 1EnrichmentACTA20.78
861Anterior segment dysgenesis 5EnrichmentCOL4A10.78
862Kleefstra syndrome 1EnrichmentKMT2C0.78
863Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB10.78
864Intestinal pseudo-obstructionEnrichmentACTG20.78
865Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentUHRF10.78
866DiarrheaEnrichmentWNT2B0.78
867Pulmonary fibrosisEnrichmentTERT0.78
868Chronic mucocutaneous candidiasisEnrichmentSTAT10.78
869Limited sclerodermaEnrichmentCCN20.78
870Hoyeraal-hreidarsson syndromeEnrichmentTERT0.78
871HypertrichosisEnrichmentASXL10.78
872Kidney clear cell sarcomaEnrichmentTERT0.78
873Multicystic kidney dysplasiaEnrichmentFZD30.78
874Typical nemaline myopathyEnrichmentACTA10.78
875Cleft lip with or without cleft palateEnrichmentCDH10.78
876Multicystic dysplastic kidneyEnrichmentFZD30.78
877Complex neurodevelopmental disorderEnrichmentBAP1, CSNK2A1, PAK3, RNF2, SETD5, TCF7L20.76
878Developmental and epileptic encephalopathy 1EnrichmentCSNK1E, SLC2A10.76
879ThrombocytopeniaEnrichmentCYCS, ITGB3, SRC0.76
880Tetralogy of fallotEnrichmentFLT4, KDR0.73
881Esophageal cancerEnrichmentTP530.71
882Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.71
883Glaucoma 3, primary congenital, aEnrichmentTEK0.71
884Silver-russell syndrome 1EnrichmentIGF20.71
885MyelofibrosisEnrichmentSRC0.71
886Coats diseaseEnrichmentPRSS230.71
887Myasthenic syndrome, congenital, 1a, slow-channelEnrichmentMINK10.71
888Glanzmann thrombasthenia 1EnrichmentITGB30.71
889Waardenburg syndrome, type 2eEnrichmentKITLG0.71
890Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT0.71
891Multiple enchondromatosis, maffucci typeEnrichmentHIF1A0.71
892Polycystic kidney disease 1EnrichmentTSC20.71
893Essential thrombocythemiaEnrichmentTP530.71
894MegacolonEnrichmentAKT30.71
895Common variable immunodeficiencyEnrichmentNFKB10.71
896Epidermolysis bullosa simplexEnrichmentITGB40.71
897Childhood-onset nemaline myopathyEnrichmentACTA10.71
898Paroxysmal dystoniaEnrichmentSLC2A10.71
899Hypophosphatemic ricketsEnrichmentFGF230.71
900HypertelorismEnrichmentFGFR2, PIK3CA, RPS6KA30.69
901Familial isolated dilated cardiomyopathyEnrichmentACTC1, LAMA4, RAF10.67
902Arthrogryposis, distal, type 1aEnrichmentMET0.66
903Gastroesophageal refluxEnrichmentRPS6KA30.66
904Renal hypodysplasia/aplasia 1EnrichmentMAP4K40.66
905Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC10.66
906Lymphoma, non-hodgkin, familialEnrichmentTP530.66
907Orthostatic intoleranceEnrichmentRPS6KA30.66
908Ewing sarcomaEnrichmentBAP10.66
909Lennox-gastaut syndromeEnrichmentMAPK100.66
910Alternating hemiplegia of childhoodEnrichmentSLC2A10.66
911Congenital muscular dystrophyEnrichmentLAMA20.66
912NeuroblastomaEnrichmentLIN28B0.66
913Permanent neonatal diabetes mellitusEnrichmentINS0.66
914Early-onset posterior polar cataractEnrichmentEPHA20.66
915Dilated cardiomyopathyEnrichmentACTA1, ACTC1, LAMA2, RAF10.65
916Orofacial cleft 1EnrichmentFGF100.62
917Rheumatoid arthritisEnrichmentIL100.62
918Charge syndromeEnrichmentKDM6A0.62
919Inflammatory bowel disease 1EnrichmentIL60.62
920Myoclonic-atonic epilepsyEnrichmentSLC2A10.62
921Hypogonadotropic hypogonadismEnrichmentFGFR10.62
922Congenital central hypoventilation syndromeEnrichmentBDNF0.62
923Primary hyperaldosteronismEnrichmentTP530.62
924Renal agenesis, bilateralEnrichmentFGF200.62
925Connective tissue diseaseEnrichmentACTA2, FGFR30.60
926Primary ovarian insufficiencyEnrichmentADAMTS1, KDR, NTRK10.58
927Lynch syndrome 1EnrichmentATM0.58
928Meier-gorlin syndrome 1EnrichmentFGFR20.58
929Peters-plus syndromeEnrichmentCOL4A10.58
930Amelogenesis imperfecta, type ieEnrichmentLAMB30.58
931Ciliary dyskinesia, primary, 3EnrichmentNFKB10.58
932Aplastic anemiaEnrichmentTERT0.58
933Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMINK10.58
934Nemaline myopathyEnrichmentACTA10.58
935Autosomal dominant macrothrombocytopeniaEnrichmentITGB30.58
936Familial colorectal cancerEnrichmentTP530.58
937Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD0.58
938Primary bone dysplasiaEnrichmentFGFR30.58
939CakutEnrichmentACTG1, COL4A10.56
940Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A3, LAMA50.56
941Left ventricular noncompactionEnrichmentACTC1, RAF10.55
942Immune deficiency diseaseEnrichmentATM0.54
943Frontotemporal dementia 1EnrichmentCSF1R0.54
94446,xy complete gonadal dysgenesisEnrichmentMAP3K10.54
945OsteochondrodysplasiaEnrichmentFGFR30.54
946Diabetes mellitusEnrichmentINS0.54
947Heritable pulmonary arterial hypertensionEnrichmentSOX170.54
948Familial colorectal cancer type xEnrichmentATM0.54
949Presynaptic congenital myasthenic syndromesEnrichmentLAMA50.54
950Non-syndromic x-linked intellectual disabilityEnrichmentHCFC1, RPS6KA30.53
951Fetal akinesia deformation sequence 1EnrichmentACTA1, ROR20.51
952Septooptic dysplasiaEnrichmentFGFR10.51
953Juvenile myelomonocytic leukemiaEnrichmentASXL10.51
954Renal hypodysplasia/aplasia 3EnrichmentFGFR30.51
955Early-onset parkinson's diseaseEnrichmentPODXL0.51
956Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentCTNNA30.51
957Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentCTNNA30.51
958Congenital long qt syndromeEnrichmentITPR30.51
959Aortic valve disease 1EnrichmentSOS10.48
960Neural tube defectsEnrichmentITGB10.48
961Pulmonary hypertension, primary, 1EnrichmentSOX170.48
962Alzheimer's diseaseEnrichmentCSF1R0.48
963Amelogenesis imperfectaEnrichmentLAMB30.48
964Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.46
965PheochromocytomaEnrichmentMAX0.46
966Periventricular nodular heterotopiaEnrichmentBRCA10.46
967Walker-warburg syndromeEnrichmentCOL4A10.46
968Generalized epilepsy with febrile seizures plusEnrichmentFGF130.46
969CataractEnrichmentEPHA20.46
970Congenital myasthenic syndromeEnrichmentMINK10.46
971Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCTNNA30.46
972Charcot-marie-tooth diseaseEnrichmentLAMA2, NDRG10.45
973Wilms tumor 1EnrichmentIGF20.43
974Congenital myopathy 4a, autosomal dominantEnrichmentACTA10.43
975MyopiaEnrichmentCOL4A40.43
976Anterior segment dysgenesisEnrichmentCOL4A10.43
977Atypical hemolytic-uremic syndromeEnrichmentCOL4A50.43
978Lynch syndromeEnrichmentPIK3CA0.43
979Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.43
980Septopreoptic holoprosencephalyEnrichmentFGF80.43
981Midline interhemispheric variant of holoprosencephalyEnrichmentFGF80.43
982Hypertrophic cardiomyopathyEnrichmentACTC1, PRKAG20.43
983Creatine phosphokinase, elevated serumEnrichmentLAMA20.41
984Wolff-parkinson-white syndromeEnrichmentPRKAG20.41
985Hydrocephalus, congenital, 1EnrichmentSETD20.41
986Arrhythmogenic right ventricular cardiomyopathyEnrichmentCTNNA30.41
987Isolated elevated serum creatine phosphokinase levelsEnrichmentLAMA20.41
988Isolated congenital microcephalyEnrichmentPHC10.41
989Congenital nervous system abnormalityEnrichmentCTNNB1, FGFR3, PTEN, TSC20.40
990Nervous system diseaseEnrichmentCTNNB1, FGFR3, PTEN, TSC20.40
991Cleft palate, isolatedEnrichmentSETD50.39
992Interstitial lung disease 2EnrichmentTERT0.39
993Cataract 44EnrichmentEPHA20.39
994Alobar holoprosencephalyEnrichmentFGF80.39
995Beckwith-wiedemann syndromeEnrichmentIGF20.37
996Heart, malformation ofEnrichmentMAPK10.37
997Charcot-marie-tooth disease type 4EnrichmentNDRG10.37
998Neuromuscular diseaseEnrichmentACTA10.37
999Patent foramen ovaleEnrichmentACTC10.37
1000Polycystic kidney diseaseEnrichmentCOL4A40.37
1001Early-onset nuclear cataractEnrichmentEPHA20.37
1002Behcet syndromeEnrichmentIL100.36
1003Congenital myopathyEnrichmentACTA10.36
1004Dyskeratosis congenitaEnrichmentTERT0.36
1005Maturity-onset diabetes of the youngEnrichmentINS0.34
1006Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, KITLG0.33
1007LissencephalyEnrichmentACTG10.32
1008Centronuclear myopathyEnrichmentACTA10.32
1009Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.32
1010Myocardial infarctionEnrichmentITGB30.31
1011MicrophthalmiaEnrichmentWNT7B0.31
1012Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET, ROR10.30
1013Diamond-blackfan anemia 1EnrichmentTP530.30
1014Undetermined early-onset epileptic encephalopathyEnrichmentFGF12, NTRK20.30
1015Parkinson disease, late-onsetEnrichmentEIF4G10.28
1016Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.28
1017Autoinflammatory diseaseEnrichmentNLRP30.28
1018Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, PPARGC1A0.28
1019StrabismusEnrichmentSLC2A10.25
1020Severe covid-19EnrichmentITGAV0.23
1021Long qt syndrome 1EnrichmentITPR30.22
1022Long qt syndromeEnrichmentCTNNA30.21
1023Cystic fibrosisEnrichmentTGFB10.20
1024Peripheral nervous system diseaseEnrichmentNGF0.20
1025NeuropathyEnrichmentNGF0.20
1026AutismEnrichmentCHD8, TCF7L20.19
1027Fanconi anemia, complementation group aEnrichmentBRCA10.18
1028Diamond-blackfan anemiaEnrichmentTP530.18
1029Non-syndromic genetic deafnessEnrichmentACTG10.18
1030Rare genetic deafnessEnrichmentACTG1, COL4A50.16
1031Systemic lupus erythematosusEnrichmentIL100.16
1032EpilepsyEnrichmentSLC2A10.15
1033MyopathyEnrichmentACTA10.15
1034Benign epilepsy with centrotemporal spikesEnrichmentSLC2A10.15
1035Nonsyndromic hearing lossEnrichmentACTG10.14
1036Centralopathic epilepsyEnrichmentSLC2A10.14
1037Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA20.13
1038Sensorineural hearing lossEnrichmentHGF0.11
1039Body mass index quantitative trait locus 11EnrichmentBDNF0.11
1040Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B0.11
1041Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.09
1042Autosomal recessive non-syndromic intellectual disabilityEnrichmentTNIK0.08
1043Hereditary retinal dystrophyEnrichmentCTNNA1, ITGA4, LAMA1, LRP5, PRSS23, TEAD30.06
1044Fundus dystrophyEnrichmentCTNNA1, ITGA4, LAMA1, LRP5, PRSS23, TEAD30.06
1045Cone-rod dystrophy 2EnrichmentITGA40.06
1046Leber plus diseaseEnrichmentTEAD30.02

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