PIP3 activates AKT signaling

Pathway network for the PIP3 activates AKT signaling SuperPath

Sources:
  • Reactome

Pathways in the PIP3 activates AKT signaling SuperPath

#NameSourceGenes
1PIP3 activates AKT signalingReactome
(see all 262) (see less)
2Diseases of signal transduction by growth factor receptors and second messengersReactome
(see all 452) (see less)
3Intracellular signaling by second messengersReactome
(see all 304) (see less)

Gene overlap in member pathways for PIP3 activates AKT signaling SuperPath

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

Disorders associated with PIP3 activates AKT signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, SHOC2, SOS111.06
2Bladder cancerEnrichmentCDKN1A, CTNNB1, EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, NF1, PIK3CA, PTEN, RB1, TP5310.86
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED110.64
4Noonan syndrome 1EnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, SHOC2, SOS1, SPRED210.48
5Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA9.63
6Colorectal cancerEnrichmentAKT1, AMER1, APC, BRAF, CTNNB1, EP300, ERBB2, FBXW7, FGFR2, FGFR3, MET, NRAS, PIK3CA, PIK3R1, PTPN12, SMAD4, SRC, TP539.36
7Inflammatory myofibroblastic tumorEnrichmentALK, CARS1, CLTC, RANBP2, TPM3, TPM48.87
8HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN, RHEB8.59
9Noonan syndrome 3EnrichmentCLTC, HRAS, KRAS, PTPN11, RAF1, SOS18.04
10Gallbladder cancerEnrichmentBRAF, CTNNB1, KRAS, PIK3CA, SMAD4, TP538.04
11Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KIAA1549, KRAS, NTRK2, RAF18.04
12Differentiated thyroid carcinomaEnrichmentALK, BRAF, ETV6, HRAS, KRAS, NRAS, NTRK3, TFG, TPR, TRIM247.76
13Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, HRAS, KIT, PIK3CA, RB1, TP537.52
14Ovarian cancerEnrichmentAKT1, ALK, APC, CDKN1B, CTNNB1, EGFR, ERBB2, KIT, KRAS, MET, PDGFRA, PIK3CA, PTEN, RB1, TP53, TRIM24, TSC27.46
15Primary hypereosinophilic syndromeEnrichmentETV6, FGFR1, FIP1L1, PDGFRA, PDGFRB7.40
16Diffuse large b-cell lymphomaEnrichmentBRAF, CREBBP, ETV6, FOXO1, PTEN, STAT3, TBL1XR1, TP537.11
17Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, EGF, PIK3CA, TP53, TSC26.99
18Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, FGF10, KRAS, RB1, TP536.91
19Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR3, KRAS, PIK3CA6.63
20Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA6.10
21Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K25.91
22Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K25.91
23Acute promyelocytic leukemiaEnrichmentFIP1L1, NPM1, PRKAR1A, STAT3, STAT5B, TBL1XR15.73
24Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF15.68
25Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.15
26Lung cancerEnrichmentALK, BRAF, EGFR, ERBB2, KRAS, MET, PIK3CA, PPP2R1B5.13
27RhabdomyosarcomaEnrichmentALK, CBL, HRAS, NF1, PTEN, TP535.10
28GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, PPARG, TP535.02
29Gastric cancerEnrichmentAPC, ERBB2, FGFR2, KRAS, NF1, PIK3CA, PTEN, SMAD4, TP535.02
30Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, PPARG, TP534.88
31Myeloma, multipleEnrichmentBRAF, CREBBP, FGFR3, FLT3, HDAC4, KRAS, NCOR2, NF1, PIK3R2, TP534.86
32Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, TP534.76
33ThrombocytopeniaEnrichmentETV6, FGG, ITGA2B, ITGB3, MYH9, PTPN11, SMAD4, SRC, VWF4.61
34Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NF1, NRAS, PTPN114.58
35Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R24.55
36Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC24.55
37Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC24.55
38GliomaEnrichmentFGFR2, NTRK3, PTEN4.55
39Inherited cancer-predisposing syndromeEnrichmentALK, APC, CDKN1B, EGFR, KIT, MET, NF1, PDGFRA, PRKAR1A, PTEN, PTPN11, RB1, SMAD4, TP53, TSC24.48
40Breast cancerEnrichmentAKT1, APC, ESR1, JUN, KLC1, KRAS, PHB1, PIK3CA, PTEN, SHC1, TP534.45
41Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS4.43
42Dysfibrinogenemia, congenitalEnrichmentFGA, FGB, FGG4.43
43Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR24.43
44Familial dysfibrinogenemiaEnrichmentFGA, FGB, FGG4.43
45Familial hypofibrinogenemiaEnrichmentFGA, FGB, FGG4.43
46Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS, PTEN4.41
47Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS, PTEN4.41
48Leukemia, acute myeloidEnrichmentETV6, FLT3, JAK2, KIT, KRAS, NPM1, NRAS, TP534.37
49MeningiomaEnrichmentAKT1, PDGFB, PIK3CA, PTEN4.22
50Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, MET, PIK3CA, TP534.20
51Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFBR1, TGFBR23.87
52Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN3.86
53Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG3.86
54Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS3.84
55Afibrinogenemia, congenitalEnrichmentFGA, FGB, FGG3.84
56Saethre-chotzen syndromeEnrichmentFGFR2, FGFR3, TWIST13.84
57CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB13.84
58Noonan syndrome with multiple lentiginesEnrichmentBRAF, PTPN11, RAF13.84
59Middle aortic syndromeEnrichmentJAG1, NF1, RNF2133.84
60Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP533.63
61Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP53.46
62Rhabdomyosarcoma 2EnrichmentFOXO1, NF1, TP533.46
63Acute myeloid leukemia with maturationEnrichmentFLT3, KIT, NPM13.46
64Cervical cancerEnrichmentFGFR3, TP533.43
65Piebald traitEnrichmentKIT, SNAI23.43
66Keratosis, seborrheicEnrichmentFGFR3, PIK3CA3.43
67Pfeiffer syndromeEnrichmentFGFR1, FGFR23.43
68Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.43
69Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA3.43
70Cervix carcinomaEnrichmentFGFR3, TP533.43
71Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD883.43
72Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR3, PTPN113.31
73HepatoblastomaEnrichmentAPC, CTNNB1, FGFR3, JAG1, TP533.28
74Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN3.26
75Familial thoracic aortic aneurysm and aortic dissectionEnrichmentHEY2, NOTCH1, SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR23.24
76Hereditary breast carcinomaEnrichmentAKT1, APC, ESR1, KRAS, PIK3CA, PTEN, TP533.24
77Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.24
78Adrenocortical carcinomaEnrichmentCTNNB1, PRKAR1A, TP533.17
79Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, TGFB13.17
80Kallmann syndromeEnrichmentDUSP6, FGF17, FGF8, FGFR1, POLR2F3.09
81Crouzon syndromeEnrichmentFGFR2, FGFR32.96
82Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, KL2.96
83Weaver syndromeEnrichmentEZH2, SUZ122.96
84Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R12.96
85Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R12.96
86HamartomaEnrichmentFGFR3, TSC22.96
87Testicular germ cell cancerEnrichmentFGFR3, KIT2.96
88Immunodeficiency 14EnrichmentPIK3CD, PIK3R12.96
89Osteopathia striata with cranial sclerosisEnrichmentAMER1, CTNNB12.96
90Pulmonic stenosisEnrichmentBRAF, SOS12.96
91Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR22.96
92Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS2.96
93Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS2.96
94Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET2.96
95Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB, SHOC22.96
96Congenital mesoblastic nephromaEnrichmentETV6, NTRK32.96
97FibrosarcomaEnrichmentETV6, NTRK32.96
98Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG12.96
99Acute myeloid leukemia without maturationEnrichmentFLT3, NPM12.96
100Lymphomatoid papulosisEnrichmentNPM1, TYK22.96
101Chronic eosinophilic leukemiaEnrichmentFIP1L1, PDGFRA2.96
102Pleomorphic rhabdomyosarcomaEnrichmentNF1, TP532.96
103Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM1, TYK22.96
104Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM1, VCP2.96
105Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA2.93
106Leukemia, chronic myeloidEnrichmentBCR, KRAS, NRAS2.93
107Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ2.93
108B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentBCR, FLT3, TP532.93
109Type 2 diabetes mellitusEnrichmentAKT2, INSR, IRS1, IRS2, PPARG2.91
110Microform holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, SHH2.79
111Lobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, SHH2.79
112Lymphoma, non-hodgkin, familialEnrichmentBRAF, PRF1, TP532.74
113Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP52.74
114Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R22.66
115Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.66
116Hirschsprung disease 1EnrichmentERBB2, ERBB3, IHH, NRG3, POLR2F2.61
117Semilobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, SHH2.59
118Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP6, FGF17, FGF8, FGFR12.59
119Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA2.58
120Behavioral variant of frontotemporal dementiaEnrichmentPSEN1, SQSTM1, VCP2.58
121MicrocephalyEnrichmentACTB, ACTG1, CAMK2B, CTNNB1, EP300, HDAC8, MAPK1, MECP2, PPFIBP1, PSMC3, PTPN112.57
122Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, EED, NBEA, PTEN, PTPN11, TNRC6B, TSC22.51
123Desmoid disease, hereditaryEnrichmentAPC, CTNNB12.49
124Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB3, STAT32.49
125Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB32.49
126Glomerulopathy with fibronectin deposits 2EnrichmentATIC, FN12.49
127Osteogenic sarcomaEnrichmentRB1, TP532.49
128Osteoporosis, juvenileEnrichmentDKK1, WNT3A2.49
129Alzheimer disease 4EnrichmentPSEN1, PSEN22.49
130Chromosome 8p11 myeloproliferative syndromeEnrichmentBCR, FGFR12.49
131Tethered spinal cord syndromeEnrichmentBRAF, CREBBP2.49
132Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.49
133Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT32.49
134Desmoid tumorEnrichmentAPC, CTNNB12.49
135Squamous cell carcinomaEnrichmentRB1, TP532.49
136Bone osteosarcomaEnrichmentRB1, TP532.49
137SpermatocytomaEnrichmentFGFR3, HRAS2.49
138Neonatal inflammatory skin and bowel diseaseEnrichmentADAM17, EGFR2.49
139KeratoacanthomaEnrichmentNOTCH1, PIK3CA2.49
140Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.45
141LymphomaEnrichmentPTPN11, TP532.45
142HoloprosencephalyEnrichmentFGF8, FGFR12.45
143Acute megakaryocytic leukemiaEnrichmentPTEN, TP532.45
144Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.45
145Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA2.43
146Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB3, TPM42.43
147Connective tissue diseaseEnrichmentFGFR3, NOTCH1, SMAD3, TGFBR2, TRIP112.41
148Pectus excavatumEnrichmentPTPN11, SHOC2, TGFBR12.30
149Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, CSNK2B, ERBB4, NBEA2.29
150Li-fraumeni syndromeEnrichmentMDM2, TP532.28
151Holoprosencephaly 1EnrichmentFGF8, FGFR12.28
152Patent ductus arteriosusEnrichmentPSMC3, PTPN112.28
15346,xy disorder of sex developmentEnrichmentFGFR3, INSR2.28
154Tooth agenesisEnrichmentFGFR1, LRP6, RANBP2, TGFA2.26
155Small cell cancer of the lungEnrichmentRB1, TP532.20
156Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP532.20
157Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF12.20
158Chromosome 22q11.2 deletion syndrome, distalEnrichmentBCR, MAPK12.20
159Lung sarcomatoid carcinomaEnrichmentKRAS, TP532.20
160Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.20
161Chronic myelomonocytic leukemiaEnrichmentETV6, FLT32.20
162Retinopathy of prematurityEnrichmentFZD4, LRP52.20
163Cerebrovascular diseaseEnrichmentPIK3CA, RNF2132.20
164Embryonal rhabdomyosarcomaEnrichmentNF1, TP532.20
165Aortic aneurysmEnrichmentSMAD3, TGFBR12.20
166Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN112.20
167Pilocytic astrocytomaEnrichmentKRAS, NF12.20
168Sick sinus syndromeEnrichmentLMNA, MECP22.20
169Non-syndromic bicoronal craniosynostosisEnrichmentFGFR3, TWIST12.20
170Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR1, STUB12.15
171Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B2.14
172Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.14
173Waardenburg syndrome, type 2eEnrichmentKITLG, SNAI22.14
174Renal cell carcinoma, papillary, 1EnrichmentMET, MTOR2.14
175Overgrowth syndromeEnrichmentMTOR, PIK3R12.14
176Endometrial cancerEnrichmentFGFR2, PIK3CA, PTEN2.14
177Congenital nervous system abnormalityEnrichmentCAMK2B, CREBBP, CTNNB1, ERLIN2, FGFR3, MECP2, PSEN1, PTEN, TSC22.05
178Nervous system diseaseEnrichmentCAMK2B, CREBBP, CTNNB1, ERLIN2, FGFR3, MECP2, PSEN1, PTEN, TSC22.05
179Glioma susceptibility 1EnrichmentERBB2, TP532.02
180Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.02
181Tetralogy of fallotEnrichmentHEY2, JAG1, KDR, NOTCH11.99
182Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, CSNK2A1, PPP2CA, PSMD12, RNF2, TNRC6B1.99
183Pervasive developmental disorderEnrichmentFBXW7, SPTBN11.98
184Myeloproliferative neoplasmEnrichmentCBL, JAK21.98
185HemangiomaEnrichmentPTEN, RNF2131.98
186Coloboma of choroid and retinaEnrichmentACTG1, FZD51.98
187Rare pervasive developmental disorderEnrichmentFBXW7, SPTBN11.98
188Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC1, TNRC6B1.91
189Lynch syndromeEnrichmentKRAS, PIK3CA, TGFBR21.91
190Rare genetic intellectual disabilityEnrichmentCREBBP, EP300, MTOR1.91
191Septopreoptic holoprosencephalyEnrichmentDLL1, FGF8, SHH1.91
192Midline interhemispheric variant of holoprosencephalyEnrichmentDLL1, FGF8, SHH1.91
193PolymicrogyriaEnrichmentAKT3, PSMC31.82
194Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R11.82
195Klippel-trenaunay-weber syndromeEnrichmentAGGF1, PIK3CA1.82
196Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3001.82
197Hemangioma, capillary infantileEnrichmentKDR, MYH91.82
198Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3001.82
199Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2B, ITGB31.82
200Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.79
201Dandy-walker syndromeEnrichmentBRAF, PDGFRB, PPP1CB1.75
202Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP61.75
203Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP61.75
204Alobar holoprosencephalyEnrichmentDLL1, FGF8, SHH1.75
205Prostate cancerEnrichmentPIK3CA, PTEN, TP531.75
206Meningioma, familialEnrichmentPDGFB, PTEN1.74
207Specific learning disabilityEnrichmentMAPK1, PTPN111.74
208Long qt syndromeEnrichmentAKAP9, CALM1, CALM2, LMNA1.73
209Non-immune hydrops fetalisEnrichmentFZD6, HRAS, KRAS, PTPN111.73
210Erythroleukemia, familialEnrichmentERBB31.71
211HypochondroplasiaEnrichmentFGFR31.71
212MacrodactylyEnrichmentPIK3CA1.71
213Proteus syndromeEnrichmentAKT11.71
214Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.71
215Paget disease, extramammaryEnrichmentERBB21.71
216Osteoglophonic dysplasiaEnrichmentFGFR11.71
217MetachondromatosisEnrichmentPTPN111.71
218Thanatophoric dysplasia, type iEnrichmentFGFR31.71
219Trigonocephaly 1EnrichmentFGFR11.71
220Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.71
221Donohue syndromeEnrichmentINSR1.71
222Muenke syndromeEnrichmentFGFR31.71
223Vacterl association with hydrocephalusEnrichmentPTEN1.71
224Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.71
225Spermatogenic failure, x-linked, 9EnrichmentRBBP71.71
226Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.71
227Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR21.71
228Deafness, autosomal recessive 26EnrichmentGAB11.71
229Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.71
230Hypomagnesemia 4, renalEnrichmentEGF1.71
23146,xy sex reversal 5EnrichmentCBX21.71
232Immunodeficiency 68EnrichmentMYD881.71
233Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.71
234Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.71
235Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.71
236Deafness, autosomal recessive 39EnrichmentHGF1.71
237Mastocytosis, cutaneousEnrichmentKIT1.71
238Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.71
239Macroglobulinemia, waldenstrom 1EnrichmentMYD881.71
240Megalencephaly, autosomal dominantEnrichmentPIK3CA1.71
241Apert syndromeEnrichmentFGFR21.71
242Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.71
243Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.71
244Leopard syndrome 1EnrichmentPTPN111.71
245Ivic syndromeEnrichmentSALL41.71
246Cowden syndrome 5EnrichmentPIK3CA1.71
247Myofibromatosis, infantile, 1EnrichmentPDGFRB1.71
248Thanatophoric dysplasia, type iiEnrichmentFGFR31.71
249Lethal congenital contracture syndrome 2EnrichmentERBB31.71
250Gand syndromeEnrichmentGATAD2B1.71
251Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.71
252Fetal encasement syndromeEnrichmentCHUK1.71
253Microcephaly 11, primary, autosomal recessiveEnrichmentPHC11.71
254Gist-plus syndromeEnrichmentPDGFRA1.71
255Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.71
256Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.71
257Accelerated tumor formationEnrichmentMDM21.71
258Aplasia of lacrimal and salivary glandsEnrichmentFGF101.71
259Bent bone dysplasia syndrome 1EnrichmentFGFR21.71
260Wilms tumor 6EnrichmentREST1.71
261Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B1.71
262Congenital hypotonia, epilepsy, developmental delay, and digital anomaliesEnrichmentATN11.71
263Luo-schoch-yamamoto syndromeEnrichmentRNF21.71
264Cerebral cavernous malformations 4EnrichmentPIK3CA1.71
265Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.71
266Noonan syndrome 13EnrichmentMAPK11.71
267Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.71
268Developmental and epileptic encephalopathy 58EnrichmentNTRK21.71
269Tumoral calcinosis, hyperphosphatemic, familial, 3EnrichmentKL1.71
270Lessel-kubisch syndromeEnrichmentMDM21.71
271Short syndromeEnrichmentPIK3R11.71
272Bone marrow failure syndrome 5EnrichmentTP531.71
273Houge-janssens syndrome 4EnrichmentPPP2R5C1.71
274Stankiewicz-isidor syndromeEnrichmentPSMD121.71
275Osteofibrous dysplasiaEnrichmentMET1.71
276Papilloma of choroid plexusEnrichmentTP531.71
277Basal cell carcinoma 7EnrichmentTP531.71
278Imagawa-matsumoto syndromeEnrichmentSUZ121.71
279Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.71
280Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.71
281Anaplastic thyroid carcinomaEnrichmentTP531.71
282Metacarpal 4-5 fusionEnrichmentFGF161.71
283Papillary tumor of the pineal regionEnrichmentPTEN1.71
284Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.71
285Familial isolated trichomegalyEnrichmentFGF51.71
286Houge-janssens syndrome 2EnrichmentPPP2R1A1.71
287Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.71
288Deafness, autosomal recessive 97EnrichmentMET1.71
289Radioulnar synostosis with amegakaryocytic thrombocytopenia 2EnrichmentMECOM1.71
290Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.71
291Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.71
292Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.71
293Hemifacial myohyperplasiaEnrichmentPIK3CA1.71
294Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.71
295Ovarian dysgenesis 8EnrichmentESR21.71
296Neuroendocrine tumorEnrichmentCDKN1B1.71
297Autism 9EnrichmentMET1.71
298Immunodeficiency 67EnrichmentIRAK41.71
299Deafness, autosomal dominant 27EnrichmentREST1.71
300Multiple synostoses syndrome 3EnrichmentFGF91.71
301Glaucoma 1, open angle, oEnrichmentNTF41.71
302Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.71
303Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.71
304Cowden syndrome 6EnrichmentAKT11.71
305Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.71
306Amyotrophic lateral sclerosis 19EnrichmentERBB41.71
307Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.71
308Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.71
309Immunodeficiency, common variable, 3EnrichmentCD191.71
310Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.71
311Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.71
312Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.71
313Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.71
314Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.71
315Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.71
316Glioma susceptibility 2EnrichmentPTEN1.71
317Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.71
318Ductal carcinoma in situEnrichmentTP531.71
319Kosaki overgrowth syndromeEnrichmentPDGFRB1.71
320Fibromatosis, gingival, 5EnrichmentREST1.71
321Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.71
322Hartsfield syndromeEnrichmentFGFR11.71
323Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A1.71
324Renal hypodysplasia/aplasia 2EnrichmentFGF201.71
325Immunodeficiency 22EnrichmentLCK1.71
326Thrombocytopenia 6EnrichmentSRC1.71
327Cohen-gibson syndromeEnrichmentEED1.71
328Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.71
329Bartsocas-papas syndrome 2EnrichmentCHUK1.71
330Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.71
331Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.71
332Chronic mast cell leukemiaEnrichmentKIT1.71
333Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.71
334Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B1.71
335Thyroid gland undifferentiated carcinomaEnrichmentTP531.71
336Deafness, autosomal dominant 69EnrichmentKITLG1.71
337Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.71
338Arthrogryposis, distal, type 11EnrichmentMET1.71
339Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.71
340Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG1.71
341Immunodeficiency 125EnrichmentFLT3LG1.71
342Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.71
343Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.71
344HypospadiasEnrichmentPIK3CA1.71
345Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.71
346Capillary hemangiomaEnrichmentAKT31.71
347Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.71
348Isolated bone marrow mastocytosisEnrichmentKIT1.71
349Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.71
350Smoldering systemic mastocytosisEnrichmentKIT1.71
351Choroid plexus cancerEnrichmentTP531.71
352Rare venous malformationEnrichmentPIK3CA1.71
353Diaphragmatic eventrationEnrichmentPIK3CA1.71
354Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.71
355Fgfr3-related chondrodysplasiaEnrichmentFGFR31.71
356Waldenstram macroglobulinemiaEnrichmentMYD881.71
357Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.71
358MastocytosisEnrichmentKIT1.71
359Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.71
360Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.71
361Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.71
362Familial progressive hyperpigmentationEnrichmentKITLG1.71
363Pleomorphic xanthoastrocytomaEnrichmentTP531.71
364Rare combined vascular malformationEnrichmentPIK3CA1.71
365Cavernous lymphangiomaEnrichmentPIK3CA1.71
366Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.71
367Cutaneous mastocytomaEnrichmentKIT1.71
368Sall4-related disordersEnrichmentSALL41.71
369Typical urticaria pigmentosaEnrichmentKIT1.71
370Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR21.71
371Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.71
372Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.71
373Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.71
374Nodular urticaria pigmentosaEnrichmentKIT1.71
375Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.71
376Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.71
377Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.71
378Telangiectasia macularis eruptiva perstansEnrichmentKIT1.71
379Acute mast cell leukemiaEnrichmentKIT1.71
380Eccrine angiomatous hamartomaEnrichmentPIK3CA1.71
381Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.71
382Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.71
383Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.71
384Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.71
385Tubular renal disease-cardiomyopathy syndromeEnrichmentRRAGD1.71
386Plaque-form urticaria pigmentosaEnrichmentKIT1.71
387Interstitial lung disease specific to childhoodEnrichmentFGF101.71
388Macrodactyly of toeEnrichmentPIK3CA1.71
389Serous carcinoma of the corpus uteriEnrichmentERBB21.71
390Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.71
391Akt2-related familial partial lipodystrophyEnrichmentAKT21.71
392Malignant astrocytomaEnrichmentPTPN111.71
393Testis seminomaEnrichmentKIT1.71
394Heart, malformation ofEnrichmentCDK8, JAG1, MAPK11.68
395Esophageal cancerEnrichmentTGFBR2, TP531.68
396MyelofibrosisEnrichmentJAK2, SRC1.68
397Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB31.68
398Essential thrombocythemiaEnrichmentJAK2, TP531.68
399Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN21.68
400Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.65
401Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.65
402Carney complex, type 1EnrichmentPRKAR1A1.65
403Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.65
404Deafness, autosomal recessive 44EnrichmentADCY11.65
405Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.65
406Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.65
407Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.65
408Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.65
409Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.65
410Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.65
411Cardioacrofacial dysplasia 2EnrichmentPRKACB1.65
412Myxoma, intracardiacEnrichmentPRKAR1A1.65
413Neurodevelopmental disorder with or without early-onset generalized epilepsyEnrichmentNBEA1.65
414Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.65
415Spinocerebellar ataxia 14EnrichmentPRKCG1.65
416Long qt syndrome 16EnrichmentCALM31.65
417Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.65
418Cardioacrofacial dysplasia 1EnrichmentPRKACA1.65
419Deafness, autosomal dominant 74EnrichmentPDE1C1.65
420Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.65
421Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.65
422Long qt syndrome 15EnrichmentCALM21.65
423Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.65
424Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.65
425Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, KRAS1.62
426Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentLMNA, TFG, VCP1.62
427Nk-cell enteropathyEnrichmentERBB4, PIK3CB1.60
428Left ventricular noncompactionEnrichmentLMNA, MIB1, MIB2, RAF11.55
429Congenital long qt syndromeEnrichmentITPR3, PTPN111.55
430Familial isolated dilated cardiomyopathyEnrichmentLMNA, PSEN1, PSEN2, RAF1, VCL1.51
431Renal cell carcinoma, nonpapillaryEnrichmentMET, MTOR1.48
432HydrocephalusEnrichmentFGFR2, PDGFRB1.48
433Holoprosencephaly 3EnrichmentSHH1.48
434Chiari malformation type iEnrichmentDKK11.48
435Perry syndromeEnrichmentDCTN11.48
436Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.48
437Fetal hemoglobin quantitative trait locus 5EnrichmentBCL11A1.48
438Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.48
439Paget disease of bone 3EnrichmentSQSTM11.48
44046,xy sex reversal 7EnrichmentDHH1.48
441Achondrogenesis, type iaEnrichmentTRIP111.48
442Von willebrand disease, type 1EnrichmentVWF1.48
443Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC61.48
444Baraitser-winter syndrome 1EnrichmentACTB1.48
445Oculoectodermal syndromeEnrichmentKRAS1.48
446Pallister-killian syndromeEnrichmentARAF1.48
447Bone mineral density quantitative trait locus 1EnrichmentLRP51.48
448Exudative vitreoretinopathy 4EnrichmentLRP51.48
449Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X1.48
450Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF11.48
451Immunodeficiency 50EnrichmentMSN1.48
452Focal dermal hypoplasiaEnrichmentPORCN1.48
453Aica-ribosiduria due to atic deficiencyEnrichmentATIC1.48
454Legius syndromeEnrichmentSPRED11.48
455Immunodeficiency 35EnrichmentTYK21.48
456Noonan syndrome 5EnrichmentRAF11.48
457Noonan syndrome 4EnrichmentSOS11.48
458Deafness, autosomal dominant 17EnrichmentMYH91.48
459Facial hypertrichosisEnrichmentMECP21.48
460Spastic paraplegia 18b, autosomal recessiveEnrichmentERLIN21.48
461Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF41.48
462Melorheostosis, isolatedEnrichmentMAP2K11.48
463Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.48
464Noonan syndrome 7EnrichmentBRAF1.48
465Leopard syndrome 3EnrichmentBRAF1.48
466Neuroblastoma 3EnrichmentALK1.48
467Acne inversa, familial, 1EnrichmentNCSTN1.48
468Microphthalmia/coloboma 5EnrichmentSHH1.48
469Cardiomyopathy, dilated, 1nnEnrichmentRAF11.48
470Congenital myopathy 4b, autosomal recessiveEnrichmentTPM31.48
471Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.48
472Von willebrand disease, type 2EnrichmentVWF1.48
473Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.48
474Melanosis, neurocutaneousEnrichmentNRAS1.48
475Tooth agenesis, selective, 7EnrichmentLRP61.48
476Spastic paraplegia 57, autosomal recessiveEnrichmentTFG1.48
477Sessile serrated polyposis cancer syndromeEnrichmentRNF431.48
478Caudal duplication anomalyEnrichmentAXIN11.48
479Noonan syndrome 6EnrichmentNRAS1.48
480Odontochondrodysplasia 1EnrichmentTRIP111.48
481Ectodermal dysplasia 13, hair/tooth typeEnrichmentKREMEN11.48
482Noonan syndrome 11EnrichmentMRAS1.48
483Exudative vitreoretinopathy 8EnrichmentLRP61.48
484Halperin-birk syndromeEnrichmentSEC31A1.48
485Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG11.48
486Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM11.48
487Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.48
488Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalitiesEnrichmentPPFIBP11.48
489Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP21.48
490Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM11.48
491Adams-oliver syndrome 6EnrichmentDLL41.48
492Intellectual developmental disorder, x-linked, syndromic, houge typeEnrichmentCNKSR21.48
493Bleeding disorder, platelet-type, 25EnrichmentTPM41.48
494Immunodeficiency 131EnrichmentIRF41.48
495Chromosome 2q37 deletion syndromeEnrichmentHDAC41.48
496Auriculocondylar syndrome 4EnrichmentHDAC91.48
497Autism x-linked 3EnrichmentMECP21.48
498Cornelia de lange syndrome 5EnrichmentHDAC81.48
499Immunodeficiency 48EnrichmentZAP701.48
500Von willebrand disease, type 3EnrichmentVWF1.48
501Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.48
502Nivelon-nivelon-mabille syndromeEnrichmentHHAT1.48
503Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.48
504Graft-versus-host diseaseEnrichmentIL101.48
505Cataract 38EnrichmentAGK1.48
506Hypospadias 2, x-linkedEnrichmentMAMLD11.48
507T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.48
508Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN11.48
509Noonan syndrome 14EnrichmentSPRED21.48
510Cardiomyopathy, dilated, 1vEnrichmentPSEN21.48
511Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.48
512Coronary artery disease, autosomal dominant 2EnrichmentLRP61.48
513Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.48
514Alzheimer disease 18EnrichmentADAM101.48
515Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitiesEnrichmentZMYM21.48
516Cardiomyopathy, dilated, 1wEnrichmentVCL1.48
517LymphangiomaEnrichmentBRAF1.48
518Long qt syndrome 11EnrichmentAKAP91.48
519Noonan syndrome-like disorder with loose anagen hair 1EnrichmentSHOC21.48
520Acrocapitofemoral dysplasiaEnrichmentIHH1.48
521Hereditary spastic paraplegia 18EnrichmentERLIN21.48
522Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.48
523Phace associationEnrichmentBRAF1.48
524Becker nevus syndromeEnrichmentACTB1.48
525Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN11.48
526MelorheostosisEnrichmentMAP2K11.48
527Dystonia-deafness syndrome 1EnrichmentACTB1.48
528Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.48
529Cardiomyopathy, dilated, 1uEnrichmentPSEN11.48
530Leopard syndrome 2EnrichmentRAF11.48
531Cerebral palsy, spastic quadriplegic, 2EnrichmentKANK11.48
532Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.48
533Immunodeficiency 31aEnrichmentSTAT11.48
534Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.48
535Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.48
536Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP61.48
537Reticulate acropigmentation of kitamuraEnrichmentADAM101.48
538Syndromic x-linked intellectual disability lubs typeEnrichmentMECP21.48
539Loeys-dietz syndrome 6EnrichmentSMAD21.48
540Microphthalmia/coloboma 11EnrichmentFZD51.48
541Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN1.48
542Immunodeficiency 31bEnrichmentSTAT11.48
543Acne inversa, familial, 3EnrichmentPSEN11.48
544Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.48
545Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.48
546Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.48
547Visual impairment and progressive phthisis bulbiEnrichmentMARK31.48
548Intellectual developmental disorder with persistence of fetal hemoglobinEnrichmentBCL11A1.48
549Atypical werner syndromeEnrichmentLMNA1.48
550Retinitis pigmentosa 86EnrichmentKIAA15491.48
551Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG21.48
552Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.48
553Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG11.48
554Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.48
555Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR1.48
556Von willebrand's diseaseEnrichmentVWF1.48
557Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.48
558Menke-hennekam syndrome 1EnrichmentCREBBP1.48
559Hyperplastic polyposis syndromeEnrichmentRNF431.48
560Developmental and epileptic encephalopathy 68EnrichmentTRAK11.48
561Congenital myopathy 9b, proximal, with minicore lesionsEnrichmentFXR11.48
562Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC41.48
563Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesEnrichmentSEL1L1.48
564Congenital myopathy 9aEnrichmentFXR11.48
565Ceroid lipofuscinosis, neuronal, 15EnrichmentCLCN61.48
566Multisystem proteinopathyEnrichmentVCP1.48
567TrigonitisEnrichmentRAF11.48
568Autosomal recessive spastic paraplegia type 60EnrichmentWDR481.48
569Tufted angioma of skinEnrichmentKDR1.48
570Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.48
571Trilateral retinoblastomaEnrichmentRB11.48
572Plexiform neurofibromaEnrichmentNF11.48
573Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.48
574Hermansky-pudlak syndrome due to ap3b1 deficiencyEnrichmentAP3B11.48
575Developmental delay, hypotonia, and impaired languageEnrichmentFBXW71.48
576Adenoid ameloblastomaEnrichmentCTNNB11.48
577NeurofibromaEnrichmentNF11.48
578B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)EnrichmentETV61.48
579Baraitser-winter syndromeEnrichmentACTB1.48
580Heritable thoracic aortic diseaseEnrichmentSMAD41.48
581Bcl11a-related intellectual disabilityEnrichmentBCL11A1.48
582Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.48
583Mandibuloacral dysplasiaEnrichmentLMNA1.48
584Atrioventricular blockEnrichmentLMNA1.48
585Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.48
586Congenital fibrinogen deficiencyEnrichmentFGG1.48
587Lrp5-related primary osteoporosisEnrichmentLRP51.48
588NeurofibromatosisEnrichmentNF11.48
589Spastic paraplegia 18a, autosomal dominantEnrichmentERLIN21.48
590Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.48
591Chromosome 17q11.2 deletion syndromeEnrichmentNF11.48
592Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.48
593Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.48
594Congenital pulmonary airway malformationEnrichmentKRAS1.48
595Optic nerve gliomaEnrichmentNF11.48
596Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.48
597Alk-positive anaplastic large cell lymphomaEnrichmentALK1.48
598Vegetative pyoderma gangrenosumEnrichmentPTPN61.48
599Familial adenomatous polyposisEnrichmentAPC1.48
600Bullous pyoderma gangrenosumEnrichmentPTPN61.48
601Congenital smooth muscle hamartomaEnrichmentACTB1.48
602Capillary leak syndromeEnrichmentTLN11.48
603Pustular pyoderma gangrenosumEnrichmentPTPN61.48
604Syringocystadenoma papilliferumEnrichmentBRAF1.48
605Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.48
606Menke-hennekam syndromeEnrichmentCREBBP1.48
607GangliogliomaEnrichmentBRAF1.48
608Whipple diseaseEnrichmentIRF41.48
609Nongerminomatous germ cell tumorEnrichmentBRAF1.48
610Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA1.48
611Familial acute necrotizing encephalopathyEnrichmentRANBP21.48
612Phace syndromeEnrichmentBRAF1.48
613Gardner syndromeEnrichmentAPC1.48
614Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.48
615Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeEnrichmentERLIN21.48
6165q22 microdeletion syndromeEnrichmentAPC1.48
617Phakomatosis pigmentokeratoticaEnrichmentHRAS1.48
618Pash syndromeEnrichmentNCSTN1.48
619Attenuated familial adenomatous polyposisEnrichmentAPC1.48
620Huntington's disease-likeEnrichmentPSEN21.48
621Classic hairy cell leukemiaEnrichmentBRAF1.48
622Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutationEnrichmentTFG1.48
623Classic pyoderma gangrenosumEnrichmentPTPN61.48
624Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA1.48
625Fatal post-viral neurodegenerative disorderEnrichmentPRF11.48
626Alk-positive large b-cell lymphomaEnrichmentALK1.48
627Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.48
628Autosomal dominant combined immunodeficiency due to erbin deficiencyEnrichmentERBIN1.48
629Congenital generalized hypercontractile muscle stiffness syndromeEnrichmentTPM31.48
630Neurocutaneous melanocytosisEnrichmentNRAS1.48
631Zap70-related severe combined immunodeficiencyEnrichmentZAP701.48
632Microcystic stromal tumorEnrichmentCTNNB11.48
633Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA1.48
634Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH1.48
635LaminopathyEnrichmentLMNA1.48
636Lung oat cell carcinomaEnrichmentRB11.48
63746,xy ovotesticular disorder of sex developmentEnrichmentMAMLD11.48
638Neurofibromatosis, type iEnrichmentNF1, SPRED11.47
639Leukemia, acute lymphoblastic 3EnrichmentJAK2, NF11.47
640Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT3, MYO18A1.47
641Progressive non-fluent aphasiaEnrichmentPSEN1, VCP1.47
642Primary hyperaldosteronismEnrichmentBRAF, TP531.47
643Myocardial infarctionEnrichmentESR1, ITGB3, PSMA61.45
644Skin diseaseEnrichmentCLCN6, NCSTN, NF11.45
645Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.42
646Fibromatosis, gingival, 1EnrichmentREST1.42
647Dentatorubral-pallidoluysian atrophyEnrichmentATN11.42
648Otodental dysplasiaEnrichmentFGF31.42
649Adrenocortical carcinoma, hereditaryEnrichmentTP531.42
650TrichomegalyEnrichmentFGF51.42
651Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.42
652Pulmonary hypoplasia, primaryEnrichmentFGF101.42
653Carotid intimal medial thickness 1EnrichmentPPARG1.42
654Dermatofibrosarcoma protuberansEnrichmentPDGFB1.42
655Immunodeficiency 33EnrichmentIRAK41.42
656Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.42
657Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.42
658Histiocytoma, angiomatoid fibrousEnrichmentCREB11.42
659Premature ovarian failure 3EnrichmentAGO21.42
660LymphangioleiomyomatosisEnrichmentTSC21.42
661Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.42
662Aural atresia, congenitalEnrichmentFGFR21.42
663Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.42
664Duane-radial ray syndromeEnrichmentSALL41.42
665Neutrophilia, hereditaryEnrichmentPIP4K2B1.42
666Roifman-chitayat syndromeEnrichmentPIK3CD1.42
667Sifrim-hitz-weiss syndromeEnrichmentCHD41.42
668Maturity-onset diabetes of the young, type 10EnrichmentINS1.42
669Noonan syndrome 8EnrichmentPIK3CA1.42
670Lymphoma, hodgkin, classicEnrichmentTP531.42
671Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.42
672Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.42
673Houge-janssens syndrome 1EnrichmentPPP2R5D1.42
674Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.42
675Waardenburg syndrome, type 2fEnrichmentKITLG1.42
676HyperproinsulinemiaEnrichmentINS1.42
677Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.42
678Hypomagnesemia 7, renal, with or without dilated cardiomyopathyEnrichmentRRAGD1.42
679Snijders blok-campeau syndromeEnrichmentCHD31.42
680Birk-aharoni syndromeEnrichmentPSMC11.42
681Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.42
682Werner syndromeEnrichmentPTPN111.42
683Spondyloepiphyseal dysplasia, nishimura typeEnrichmentWWP21.42
684Spinocerebellar ataxia 48EnrichmentSTUB11.42
685Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.42
686Cebalid syndromeEnrichmentMTOR1.42
687Infantile myofibromatosisEnrichmentPDGFRB1.42
688Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.42
689Senior-loken syndrome 7EnrichmentAKT31.42
690Split hand-foot malformationEnrichmentFGFR21.42
691Papillary renal cell carcinomaEnrichmentMET1.42
692Congenital fibrosarcomaEnrichmentTP531.42
693Li-fraumeni syndrome 1EnrichmentTP531.42
694Severe congenital neutropenia 7EnrichmentPIP4K2B1.42
695SarcomaEnrichmentTP531.42
696Congenital dyserythropoietic anemiaEnrichmentIRAK41.42
697Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.42
698Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.42
699Immune system diseaseEnrichmentPIK3CD1.42
700Hodgkin's lymphomaEnrichmentTP531.42
701Bardet-biedl syndrome 16EnrichmentAKT31.42
702B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.42
703Hao-fountain syndromeEnrichmentUSP71.42
704Smith-kingsmore syndromeEnrichmentMTOR1.42
70517q24.2 microdeletion syndromeEnrichmentPSMD121.42
706Houge-janssens syndrome 3EnrichmentPPP2CA1.42
707Interfrontal craniofaciosynostosisEnrichmentFGFR11.42
708Radioulnar synostosisEnrichmentMECOM1.42
709Long-olsen-distelmaier syndromeEnrichmentRRAGC1.42
710Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD191.42
711Familial partial lipodystrophyEnrichmentPPARG1.42
712Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.42
713Vacterl with hydrocephalusEnrichmentPTEN1.42
714B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.42
715Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentMECOM1.42
716Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.42
717B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.42
718Juvenile polyposis of infancyEnrichmentPTEN1.42
719Oculootodental syndromeEnrichmentFGF31.42
720Submucosal cleft palateEnrichmentUBB1.42
721Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeEnrichmentMECOM1.42
722Cleft hard palateEnrichmentUBB1.42
723Precursor t-cell acute lymphoblastic leukemiaEnrichmentBCR, FLT3, MYC1.40
724Cat eye syndromeEnrichmentACTG1, FZD51.38
725Marfan syndromeEnrichmentTGFBR1, TGFBR21.38
726Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM1, VCP1.38
727MelanomaEnrichmentBRAF, PTEN1.38
728Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDCTN1, ERBB4, PSEN1, SQSTM1, VCP1.36
729Spinocerebellar ataxia 29EnrichmentITPR11.35
730Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.35
731Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A1.35
732Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.35
733Lethal congenital contracture syndrome 8EnrichmentADCY61.35
734Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.35
735Long qt syndrome 14EnrichmentCALM11.35
736Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.35
737Cerebellar, ocular, craniofacial, and genital syndromeEnrichmentNBEA1.35
738Usher syndrome, type ivEnrichmentPRKAR1A1.35
739AcrodysostosisEnrichmentPRKAR1A1.35
740Body mass index quantitative trait locus 19EnrichmentADCY31.35
741Fibrolamellar carcinomaEnrichmentPRKACA1.35
742Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.35
743Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.35
744Patent foramen ovaleEnrichmentPSMC3, PTPN111.33
745Pancreatic cancerEnrichmentKRAS, SMAD4, TP531.31
746Frontotemporal dementia 1EnrichmentDCTN1, PSEN11.30
747Leukemia, acute lymphoblasticEnrichmentETV6, FLT31.30
748Hydrops fetalis, nonimmuneEnrichmentFZD6, HRAS, PTPN111.27
749CraniosynostosisEnrichmentFGFR2, FGFR31.25
750AchondroplasiaEnrichmentFGFR31.25
751Type 1 diabetes mellitus 2EnrichmentINS1.25
752Prognathism, mandibularEnrichmentCSNK2B1.25
753Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.25
754Larsen syndromeEnrichmentFGFR31.25
755Thyroid carcinoma, familial medullaryEnrichmentESR21.25
756Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.25
757Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.25
758Pompe disease, infantile-onsetEnrichmentPIK3CA1.25
759Mycosis fungoidesEnrichmentCD281.25
760Tuberous sclerosis 1EnrichmentTSC21.25
761Uvula, bifidEnrichmentUBB1.25
762Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.25
763Cleft soft palateEnrichmentUBB1.25
764Nasopharyngeal carcinomaEnrichmentTP531.25
765Estrogen resistanceEnrichmentESR11.25
766Tuberous sclerosis 2EnrichmentTSC21.25
767Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.25
768Dedifferentiated liposarcomaEnrichmentMDM21.25
769Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.25
770Atypical teratoid rhabdoid tumorEnrichmentTP531.25
771Anaplastic astrocytomaEnrichmentTP531.25
772Xanthinuria, type iiEnrichmentTSC21.25
773AdenocarcinomaEnrichmentTP531.25
774Duane retraction syndromeEnrichmentSALL41.25
775Migraine without auraEnrichmentESR11.25
776Laryngeal squamous cell carcinomaEnrichmentPTEN1.25
777Lessel-kreienkamp syndromeEnrichmentAGO21.25
778Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.25
779Melanoma of soft tissueEnrichmentCREB11.25
780Tricuspid valve insufficiencyEnrichmentPTPN111.25
781Well-differentiated liposarcomaEnrichmentMDM21.25
782Mixed phenotype acute leukemia with tEnrichmentFLT31.25
783Renal cell carcinomaEnrichmentMET1.25
784Thyroid hemiagenesisEnrichmentPSMD31.25
785Testicular cancerEnrichmentFGFR31.25
786Saczary syndromeEnrichmentCD281.25
787Septooptic dysplasiaEnrichmentFGFR1, SHH1.23
788Cafe-au-lait spots, multipleEnrichmentNF11.18
789Burkitt lymphomaEnrichmentMYC1.18
790Myhre syndromeEnrichmentSMAD41.18
791Camurati-engelmann disease 1EnrichmentTGFB11.18
792Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.18
793Costello syndromeEnrichmentHRAS1.18
794Van buchem diseaseEnrichmentLRP51.18
795Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.18
796Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.18
797Robinow-sorauf syndromeEnrichmentTWIST11.18
798Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.18
799Thumb deformityEnrichmentCREBBP1.18
800Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.18
801Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR1.18
802Ebstein anomalyEnrichmentCDK81.18
803Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP21.18
804Ovarian germ cell cancerEnrichmentCBL1.18
805Cataract 35EnrichmentMYH91.18
806Alzheimer disease 3EnrichmentPSEN11.18
80746,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH1.18
808Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.18
809Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.18
810Waardenburg syndrome, type 4cEnrichmentPOLR2F1.18
811Pick disease of brainEnrichmentPSEN11.18
812Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.18
813Welander distal myopathyEnrichmentSQSTM11.18
814Microvascular complications of diabetes 5EnrichmentTGFBR21.18
815Heart-hand syndrome, slovenian typeEnrichmentLMNA1.18
816Deafness, autosomal dominant 20EnrichmentACTG11.18
817Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.18
818Melanoma, cutaneous malignant 6EnrichmentKLC11.18
819Primary lateral sclerosis, juvenileEnrichmentERLIN21.18
820Solitary median maxillary central incisorEnrichmentSHH1.18
821Baraitser-winter syndrome 2EnrichmentACTG11.18
822Adams-oliver syndrome 5EnrichmentNOTCH11.18
823Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.18
824Chromosome 13q14 deletion syndromeEnrichmentRB11.18
825Angioma, tuftedEnrichmentKDR1.18
826Fatty liver disease 1EnrichmentATG71.18
827Thrombocythemia 3EnrichmentJAK21.18
828Syndactyly, type iiiEnrichmentHDAC81.18
829Albinism, oculocutaneous, type iaEnrichmentNOX41.18
830Loeys-dietz syndrome 3EnrichmentSMAD31.18
831Adams-oliver syndrome 3EnrichmentRBPJ1.18
832Immunodeficiency 31cEnrichmentSTAT11.18
833Cardiomyopathy, dilated, 1dEnrichmentLMNA1.18
834Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.18
835Restrictive dermopathy 2EnrichmentLMNA1.18
836Sweeney-cox syndromeEnrichmentTWIST11.18
837Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.18
838Deafness, autosomal recessive 109EnrichmentESRP11.18
839Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.18
840Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL11.18
841Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentCUX11.18
842Menke-hennekam syndrome 2EnrichmentEP3001.18
843Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF11.18
844Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.18
845Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP21.18
846Hermansky-pudlak syndrome 2EnrichmentAP3B11.18
847Wilson-turner syndromeEnrichmentHDAC81.18
848Left ventricular noncompaction 7EnrichmentMIB11.18
849Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.18
850Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT11.18
851X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP21.18
852Lipodystrophy, familial partial, type 1EnrichmentLMNA1.18
853Hematologic cancerEnrichmentETV61.18
854Spinocerebellar ataxia, autosomal recessive 31EnrichmentATG71.18
855Camurati-engelmann diseaseEnrichmentTGFB11.18
856Inflammatory bowel disease 28EnrichmentIL10RA1.18
857Neurogenic bladderEnrichmentCLCN61.18
858Respiratory system diseaseEnrichmentCLCN61.18
859Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.18
860Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM171.18
861Angiocentric gliomaEnrichmentQKI1.18
862Bardet-biedl syndrome 9EnrichmentNF11.18
863Periampullary adenomaEnrichmentAPC1.18
864Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.18
865Pseudosarcomatous fibromatosisEnrichmentMYH91.18
866Paget's disease of boneEnrichmentSQSTM11.18
867PolycythemiaEnrichmentJAK21.18
868Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.18
869Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK81.18
870Distal hereditary motor neuropathy type 7EnrichmentDCTN11.18
871Hypereosinophilic syndromeEnrichmentJAK21.18
872Posterior hypospadiasEnrichmentMAMLD11.18
873X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMAMLD11.18
874Malignant germ cell tumor of ovaryEnrichmentCBL1.18
875Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaEnrichmentSEL1L1.18
876TeratomaEnrichmentCTNNB11.18
877OsteosclerosisEnrichmentLRP51.18
878Familial retinoblastomaEnrichmentRB11.18
879Non-syndromic sagittal craniosynostosisEnrichmentTWIST11.18
880Skeletal muscle diseaseEnrichmentKIF5B1.18
881Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.18
882Non-syndromic syndactylyEnrichmentAGGF11.18
883Isolated radial hemimeliaEnrichmentSHH1.18
884Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.18
885Tafro syndromeEnrichmentMAP2K21.18
886Progressive bulbar palsyEnrichmentMECP21.18
887Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.18
888Wooly hair nevusEnrichmentHRAS1.18
889BruxismEnrichmentMECP21.18
890Gillespie syndromeEnrichmentITPR11.18
891Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.18
892Aortic valve disease 1EnrichmentNOTCH1, SOS11.17
893Alzheimer's diseaseEnrichmentPSEN1, VCP1.17
894Lipodystrophy, familial partial, type 3EnrichmentPPARG1.12
895Immunodeficiency, common variable, 1EnrichmentICOS1.12
896Barrett esophagusEnrichmentERBB21.12
897Leptin deficiency or dysfunctionEnrichmentPPARG1.12
898Congenital generalized lipodystrophyEnrichmentPPARG1.12
899Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.12
900EnophthalmosEnrichmentCSNK2B1.12
901Multiple synostoses syndromeEnrichmentFGF91.12
902SyndactylyEnrichmentCSNK2B1.12
903Neonatal diabetes mellitusEnrichmentINS1.12
904Tuberous sclerosisEnrichmentTSC21.12
905Familial cerebral cavernous malformationsEnrichmentPIK3CA1.12
906Pediatric systemic lupus erythematosusEnrichmentIRAK11.12
907Primary hyperparathyroidismEnrichmentCDKN1B1.12
908Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.12
909Gingival fibromatosisEnrichmentREST1.12
910OsteoporosisEnrichmentLRP5, SRC1.11
911MedulloblastomaEnrichmentAPC, CTNNB11.11
912Aortic aneurysm, familial thoracic 1EnrichmentNOTCH1, SMAD31.11
913Chorea, benign hereditaryEnrichmentADCY51.06
914Carney complex variantEnrichmentPRKAR1A1.06
915Spinocerebellar ataxia 15EnrichmentITPR11.06
916Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.06
917Hereditary ataxiaEnrichmentPRKCG1.06
918Polydactyly, postaxial, type a1EnrichmentBCL11A, EP3001.06
919Corpus callosum, agenesis ofEnrichmentBCL11A, CREBBP1.06
920Isolated corpus callosum agenesisEnrichmentBCL11A, CREBBP1.06
921Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentBCL11A, CREBBP1.06
922AutismEnrichmentCAMK2G, CREBBP, MECP2, SHH, TCF7L21.04
923Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.03
924Capillary malformations, congenitalEnrichmentPIK3CA1.03
925Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentSALL41.03
926Macrocephaly/autism syndromeEnrichmentPTEN1.03
927Endometrial stromal sarcomaEnrichmentSUZ121.03
928Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF8, KLB, PTPN111.03
929Brachydactyly, type a1EnrichmentIHH1.01
930Craniosynostosis 1EnrichmentTWIST11.01
931Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.01
932LaryngomalaciaEnrichmentMECP21.01
933Myotonia congenita, autosomal dominantEnrichmentFAM131B1.01
934RetinoblastomaEnrichmentRB11.01
935Alagille syndrome 1EnrichmentJAG11.01
936Ataxia-telangiectasiaEnrichmentBRAF1.01
937Waardenburg syndrome, type 2aEnrichmentPOLR2F1.01
938Juvenile polyposis syndromeEnrichmentSMAD41.01
939Myotonia congenita, autosomal recessiveEnrichmentFAM131B1.01
940Sengers syndromeEnrichmentAGK1.01
941Polycythemia veraEnrichmentJAK21.01
942Syndactyly, type ivEnrichmentSHH1.01
943Watson syndromeEnrichmentNF11.01
944Periventricular nodular heterotopia 1EnrichmentVWF1.01
945Menkes diseaseEnrichmentEIF2AK31.01
946Pierpont syndromeEnrichmentTBL1XR11.01
947Restrictive dermopathy 1EnrichmentLMNA1.01
948Osteopetrosis, autosomal dominant 1EnrichmentLRP51.01
949Nuchal bleb, familialEnrichmentSOS11.01
950Neurofibromatosis, familial spinalEnrichmentNF11.01
951Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.01
952Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.01
953Lipodystrophy, familial partial, type 2EnrichmentLMNA1.01
954Thrombocytopenia 5EnrichmentETV61.01
955Cenani-lenz syndactyly syndromeEnrichmentAPC1.01
956Woolly hair, autosomal recessive 3EnrichmentRB11.01
957Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF11.01
958Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.01
959Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.01
960Neuropathy, hereditary sensory, type ieEnrichmentDNMT11.01
961Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.01
962Anus, imperforateEnrichmentCTNNB11.01
963Microcephaly, developmental delay, and brittle hair syndromeEnrichmentCARS11.01
964Exudative vitreoretinopathy 7EnrichmentCTNNB11.01
965Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.01
966Hypotrichosis 8EnrichmentRB11.01
967Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP1.01
968Hyper ige syndromeEnrichmentSTAT31.01
969High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.01
970Polycystic kidney disease 4EnrichmentSHOC21.01
971Nail diseaseEnrichmentFZD61.01
972Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH1.01
973Moyamoya disease 2EnrichmentRNF2131.01
974Intraocular pressure quantitative trait locusEnrichmentCREBBP1.01
975Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.01
976Brain cancerEnrichmentNF11.01
977Restrictive dermopathyEnrichmentLMNA1.01
978Colon adenocarcinomaEnrichmentAPC1.01
979Bleeding disorder, platelet-type, 24EnrichmentITGB31.01
980Cap myopathyEnrichmentTPM31.01
981Apc-associated polyposis conditionsEnrichmentAPC1.01
982Hermansky-pudlak syndrome 1EnrichmentAP3B1, ETV61.01
983Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, PPARG0.99
984Alzheimer disease, familial, 1EnrichmentPSEN1, VCP0.96
985Hereditary breast ovarian cancer syndromeEnrichmentKRAS, NF1, PTEN, TP530.96
986Dyskeratosis congenita, autosomal dominant 1EnrichmentMECOM0.96
987Developmental dysplasia of the hip 1EnrichmentPSMC30.96
988Split-hand/foot malformation 1EnrichmentFGFR20.96
989Hemihyperplasia, isolatedEnrichmentPIK3CA0.96
990Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.96
991Type 1 diabetes mellitusEnrichmentINS0.96
992Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKITLG, PDE1C, REST0.96
993Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, CNKSR2, NTRK2, TRAK10.94
994Erythrocytosis, familial, 1EnrichmentJAK20.90
995Hutchinson-gilford progeria syndromeEnrichmentLMNA0.90
996Polydactyly, preaxial iiEnrichmentSHH0.90
997Dowling-degos disease 1EnrichmentADAM100.90
998Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS0.90
999Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.90
1000Trichohepatoenteric syndrome 1EnrichmentAGK0.90
1001Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentLMNA0.90
1002SchizencephalyEnrichmentSHH0.90
1003Budd-chiari syndromeEnrichmentJAK20.90
1004Microtia-anotiaEnrichmentLMNA0.90
1005Paget disease of bone 2, early-onsetEnrichmentSQSTM10.90
1006PilomatrixomaEnrichmentCTNNB10.90
1007Aminoacylase 1 deficiencyEnrichmentACTB0.90
1008Lynch syndrome 4EnrichmentRB10.90
1009Alazami syndromeEnrichmentCTNNB10.90
1010Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A0.90
1011Emery-dreifuss muscular dystrophyEnrichmentLMNA0.90
1012Dowling-degos diseaseEnrichmentPSENEN0.90
1013Orofacial cleftEnrichmentLRP60.90
1014Ectodermal dysplasiaEnrichmentRANBP20.90
1015Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC0.90
1016Spastic quadriplegic cerebral palsyEnrichmentKANK10.90
1017Newborn respiratory distress syndromeEnrichmentBRAF0.90
1018Epidermolytic nevusEnrichmentHRAS0.90
10192p21 microdeletion syndromeEnrichmentPPM1B0.90
1020Paget's disease of bone 2EnrichmentSQSTM10.90
1021Eyelid colobomaEnrichmentFZD50.90
1022Intermediate nemaline myopathyEnrichmentTPM30.90
1023VitreoretinopathyEnrichmentLRP50.90
1024Orofacial clefting syndromeEnrichmentLRP60.90
1025Lens colobomaEnrichmentFZD50.90
1026Pseudomyogenic hemangioendotheliomaEnrichmentACTB0.90
1027Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.90
1028Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.89
1029Dyskeratosis congenita, autosomal dominant 2EnrichmentMECOM0.89
1030Polycystic kidney disease 1EnrichmentTSC20.89
1031MegacolonEnrichmentAKT30.89
1032Hypophosphatemic ricketsEnrichmentFGF230.89
1033Dilated cardiomyopathyEnrichmentBRAF, KIF5B, LMNA, RAF1, VCL0.89
1034Ehlers-danlos syndromeEnrichmentSMAD3, TGFBR20.88
1035Macs syndromeEnrichmentPORCN, SHH0.85
1036Arthrogryposis, distal, type 1aEnrichmentMET0.84
1037Permanent neonatal diabetes mellitusEnrichmentINS0.84
1038Isolated split hand-split foot malformationEnrichmentSEM10.84
1039Charcot-marie-tooth diseaseEnrichmentDCTN1, LMNA, TFG0.81
1040Amyloidosis, hereditary systemic 2EnrichmentFGA0.81
1041Dementia, lewy bodyEnrichmentVCP0.81
1042Kearns-sayre syndromeEnrichmentKIF5B0.81
1043Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.81
1044Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentSHOC20.81
1045Norrie diseaseEnrichmentFZD40.81
1046Deafness, autosomal recessive 63EnrichmentMYH90.81
1047Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF10.81
1048Chondrosarcoma, extraskeletal myxoidEnrichmentTFG0.81
1049Familial adenomatous polyposis 1EnrichmentAPC0.81
1050Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.81
1051Rubinstein-taybi syndrome 2EnrichmentEP3000.81
1052Glanzmann thrombasthenia 2EnrichmentITGB30.81
1053Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA0.81
1054Persistent hyperplastic primary vitreousEnrichmentFZD40.81
1055Histiocytoid hemangiomaEnrichmentLMNA0.81
1056Aplasia cutis congenitaEnrichmentDLL40.81
1057Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.81
1058Autosomal thrombocytopenia with normal plateletsEnrichmentETV60.81
1059DementiaEnrichmentPSEN10.81
1060Aggressive systemic mastocytosisEnrichmentCBL0.81
1061Genetic motor neuron diseaseEnrichmentDCTN10.81
1062Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentBCL11A0.81
1063Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD40.81
1064Idiopathic aplastic anemiaEnrichmentPRF10.81
1065Orofacial cleft 1EnrichmentFGF100.79
1066Hypogonadotropic hypogonadismEnrichmentFGFR10.79
1067Congenital central hypoventilation syndromeEnrichmentBDNF0.79
1068Renal agenesis, bilateralEnrichmentFGF200.79
1069Attention deficit-hyperactivity disorderEnrichmentKIF5B, MECP20.78
1070Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.78
1071Leukemia, chronic lymphocyticEnrichmentTP530.75
1072Meier-gorlin syndrome 1EnrichmentFGFR20.75
1073Familial colorectal cancerEnrichmentTP530.75
1074Primary bone dysplasiaEnrichmentFGFR30.75
1075Angelman syndromeEnrichmentMECP20.74
1076Coloboma of optic nerveEnrichmentFZD50.74
1077Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA0.74
1078Weyers acrofacial dysostosisEnrichmentCTNNB10.74
1079Wolf-hirschhorn syndromeEnrichmentCTBP10.74
1080Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN10.74
1081Moyamoya disease 1EnrichmentRNF2130.74
1082Waardenburg syndrome, type 4aEnrichmentPOLR2F0.74
1083Wilms tumor 5EnrichmentBRAF0.74
1084Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB10.74
1085Inguinal herniaEnrichmentRNF2130.74
1086Chronic mucocutaneous candidiasisEnrichmentSTAT10.74
1087HypertrichosisEnrichmentCREBBP0.74
1088Classic ehlers-danlos syndromeEnrichmentTGFBR10.74
1089Waardenburg syndromeEnrichmentPOLR2F0.74
1090Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA, RAF10.72
1091Autoinflammatory diseaseEnrichmentAP3B1, PRF10.72
1092ScoliosisEnrichmentCREBBP, PTPN110.72
1093Migraine with or without aura 1EnrichmentESR10.71
1094Myelodysplastic syndromeEnrichmentTP530.71
109546,xy complete gonadal dysgenesisEnrichmentCBX20.71
1096OsteochondrodysplasiaEnrichmentFGFR30.71
1097Diabetes mellitusEnrichmentINS0.71
1098Uterine corpus cancerEnrichmentPTEN0.71
1099West syndromeEnrichmentNTRK2, TSC20.68
1100EpicanthusEnrichmentPTPN110.68
1101Renal hypodysplasia/aplasia 3EnrichmentFGFR30.68
1102Bethlem myopathy 1aEnrichmentLMNA0.68
1103Waardenburg syndrome, type 1EnrichmentPOLR2F0.68
1104Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.68
1105Thrombophilia due to thrombin defectEnrichmentFGA0.68
1106Rett syndromeEnrichmentMECP20.68
1107Coats diseaseEnrichmentFZD40.68
1108Semantic dementiaEnrichmentPSEN10.68
1109Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT10.68
1110Renal cell carcinoma with mit translocationsEnrichmentCLTC0.68
1111Hereditary hemorrhagic telangiectasiaEnrichmentSMAD40.68
1112Focal epilepsyEnrichmentMECP20.68
1113Childhood-onset nemaline myopathyEnrichmentTPM30.68
1114Moyamoya angiopathyEnrichmentRNF2130.68
1115Brugada syndromeEnrichmentAKAP9, LMNA0.67
1116Spastic paraplegia 4, autosomal dominantEnrichmentFGG0.62
1117Fanconi anemia, complementation group cEnrichmentHDAC80.62
1118Polycystic kidney disease 4 with or without polycystic liver diseaseEnrichmentSHOC20.62
1119Ewing sarcomaEnrichmentNF10.62
1120Rett syndrome, congenital variantEnrichmentMECP20.62
1121Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.62
1122Congenital muscular dystrophyEnrichmentLMNA0.62
1123NeuroblastomaEnrichmentALK0.62
1124MyocarditisEnrichmentLMNA0.62
1125Hypoplastic left heart syndromeEnrichmentNOTCH10.62
1126Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.62
1127Cleft lip/palateEnrichmentPDGFRA0.62
1128Wilms tumor 1EnrichmentREST0.60
1129Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.60
1130Cornelia de lange syndrome 1EnrichmentHDAC80.58
1131Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.58
1132Rheumatoid arthritisEnrichmentIL100.58
1133Charge syndromeEnrichmentEP3000.58
1134Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA0.58
1135Ventricular septal defectEnrichmentBRAF0.58
1136Colonic benign neoplasmEnrichmentAPC0.58
1137Cornelia de lange syndromeEnrichmentHDAC80.58
1138Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.58
1139TrichothiodystrophyEnrichmentCARS10.58
1140HypertelorismEnrichmentFGFR2, PIK3CA0.58
1141Isolated congenital microcephalyEnrichmentPHC10.57
1142Multiple sclerosisEnrichmentITPR10.57
1143Amyotrophic lateral sclerosis 1EnrichmentDCTN10.54
1144Aplastic anemiaEnrichmentPRF10.54
1145NephrocalcinosisEnrichmentRNF2130.54
1146Nemaline myopathyEnrichmentTPM30.54
1147Anterior segment dysgenesisEnrichmentITPR10.54
1148Severe combined immunodeficiencyEnrichmentLCK, ZAP700.52
1149Combined immunodeficiencyEnrichmentZAP700.51
1150Atrial heart septal defectEnrichmentHDAC80.51
1151Movement diseaseEnrichmentCLCN60.51
1152Combined t cell and b cell immunodeficiencyEnrichmentZAP700.51
1153Interatrial communicationEnrichmentHDAC80.51
1154Combined t and b cell immunodeficiencyEnrichmentZAP700.51
1155CakutEnrichmentACTG1, ZMYM20.50
1156Primary ovarian insufficiencyEnrichmentJAK2, KDR, RICTOR0.50
1157Sudden infant death syndromeEnrichmentCALM20.49
1158Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, HGF, MET0.49
1159Maturity-onset diabetes of the youngEnrichmentINS0.49
1160DystoniaEnrichmentCAMK2B, MECP20.49
1161Cardiac conduction defectEnrichmentLMNA0.48
1162Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA0.48
1163Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA0.48
1164Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA0.48
1165Non-syndromic x-linked intellectual disabilityEnrichmentCNKSR2, MECP20.47
1166Microphthalmia/coloboma 12EnrichmentFZD50.45
1167Diaphragmatic hernia, congenitalEnrichmentCDK80.45
1168Stereotypic movement disorderEnrichmentMECP20.45
1169Protein-deficiency anemiaEnrichmentNRAS0.45
1170Diamond-blackfan anemia 1EnrichmentTP530.44
1171Systemic lupus erythematosusEnrichmentIL10, MECP20.43
1172PheochromocytomaEnrichmentNF10.42
1173Heart diseaseEnrichmentCREBBP0.42
1174Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA0.42
1175Pituitary stalk interruption syndromeEnrichmentDNMT10.42
117646,xy partial gonadal dysgenesisEnrichmentSOS10.42
1177Coloboma of maculaEnrichmentFZD50.40
1178Congenital myopathy 4a, autosomal dominantEnrichmentTPM30.40
1179Hermansky-pudlak syndromeEnrichmentAP3B10.40
1180Male infertility with spermatogenesis disorderEnrichmentSPRED10.40
1181StrabismusEnrichmentPTPN110.39
1182Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentBCL11A0.38
1183Hydrocephalus, congenital, 1EnrichmentCDK80.38
1184Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA0.38
1185HypertensionEnrichmentMYH90.38
1186Nephrotic syndromeEnrichmentATIC, FN10.37
1187Hypertrophic cardiomyopathyEnrichmentKIF5B, PTPN110.37
1188Jeune thoracic dystrophyEnrichmentGRK20.36
1189Melanoma, cutaneous malignant 1EnrichmentBRAF0.36
1190Cleft palate, isolatedEnrichmentAMER10.36
1191Cardiomyopathy, dilated, 1eEnrichmentLMNA0.36
1192Cataract 44EnrichmentAGK0.36
1193Human immunodeficiency virus type 1EnrichmentIL100.34
1194Neuromuscular diseaseEnrichmentLMNA0.34
1195Polycystic kidney diseaseEnrichmentHDAC80.34
1196Primary autosomal recessive microcephalyEnrichmentPHC10.33
1197Asphyxiating thoracic dystrophyEnrichmentGRK20.33
1198Behcet syndromeEnrichmentIL100.32
1199Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.32
1200Dyskeratosis congenitaEnrichmentNPM10.32
1201Rare genetic deafnessEnrichmentACTG1, MYH9, POLR2F0.31
1202Diamond-blackfan anemiaEnrichmentTP530.30
1203Cardiomyopathy, dilated, 1aEnrichmentLMNA0.29
1204LissencephalyEnrichmentACTG10.29
1205Centronuclear myopathyEnrichmentTPM30.29
1206Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentNF10.29
1207Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.28
1208Cerebral palsyEnrichmentPDGFRB0.27
1209Brittle bone disorderEnrichmentLRP50.27
1210Muscular dystrophyEnrichmentLMNA0.25
1211Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP1, TPR0.24
1212EpilepsyEnrichmentNBEA0.22
1213Sensorineural hearing lossEnrichmentHGF0.22
1214Joubert syndrome 1EnrichmentRCOR10.21
1215Cystic fibrosisEnrichmentTGFB10.18
1216Peripheral nervous system diseaseEnrichmentLMNA0.18
1217NeuropathyEnrichmentLMNA0.18
1218Familial hypertrophic cardiomyopathyEnrichmentRAF10.17
1219Spastic ataxiaEnrichmentITPR10.15
1220Non-syndromic genetic deafnessEnrichmentACTG10.15
1221MyopathyEnrichmentTPM30.13
1222Hereditary spastic paraplegiaEnrichmentERLIN20.12
1223Nonsyndromic hearing lossEnrichmentACTG10.12
1224Primary ciliary dyskinesiaEnrichmentPRKAR1B0.08
1225SchizophreniaEnrichmentBIRC60.06
1226Deafness, autosomal recessiveEnrichmentMYH90.05
1227Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.05
1228Mitochondrial diseaseEnrichmentAGK0.02
1229Hereditary retinal dystrophyEnrichmentFZD4, JAG1, KIAA1549, LRP50.01
1230Fundus dystrophyEnrichmentFZD4, JAG1, KIAA1549, LRP50.01
1231Retinitis pigmentosaEnrichmentKIAA15490.00

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