Nanog in Mammalian ESC Pluripotency

Pathway network for the Nanog in Mammalian ESC Pluripotency SuperPath

Sources:
  • QIAGEN

Pathways in the Nanog in Mammalian ESC Pluripotency SuperPath

#NameSourceGenes
1Nanog in Mammalian ESC PluripotencyQIAGEN
2GSK3 SignalingQIAGEN
(see all 330) (see less)
3eNOS SignalingQIAGEN
(see all 296) (see less)
414-3-3 Induced Intracellular SignalingQIAGEN
(see all 269) (see less)

Gene overlap in member pathways for Nanog in Mammalian ESC Pluripotency SuperPath

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

Disorders associated with Nanog in Mammalian ESC Pluripotency SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS211.29
2Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.56
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS110.29
4Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS10.06
5Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF17.64
6Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, FGF10, KRAS, ROS17.32
7Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF17.22
8Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.16
9Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.16
10Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B56.78
11Bladder cancerEnrichmentCTNNB1, EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS6.48
12Differentiated thyroid carcinomaEnrichmentALK, BRAF, HRAS, KRAS, NRAS, NTRK1, NTRK36.48
13Robinow syndrome, autosomal recessive 1EnrichmentDVL1, FZD2, ROR2, WNT5A6.46
14Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B56.36
15Ovarian cancerEnrichmentALK, APC, CTNNB1, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, RRAS26.11
16Leukoencephalopathy with vanishing white matterEnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B56.02
17Autosomal recessive robinow syndromeEnrichmentDVL1, FZD2, ROR2, WNT5A5.99
18Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR3, KRAS5.99
19Colorectal cancerEnrichmentAKT1, APC, CDH1, CTNNB1, ERBB2, FGFR2, FGFR3, FZD3, IGF2, MET, NRAS, PIK3R15.92
20Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS5.63
21Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS15.63
22Postsynaptic congenital myasthenic syndromesEnrichmentCHRNA1, CHRNB1, CHRND, CHRNE, MUSK5.48
23Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.36
24Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.36
25Myasthenic syndrome, congenital, 1a, slow-channelEnrichmentCHRNA1, CHRNB1, CHRND, CHRNE5.13
26HamartomaEnrichmentFGFR3, TSC1, TSC25.11
27Arteriovenous malformationEnrichmentEPHB4, HRAS, MAP2K1, TEK5.08
28Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, TIMP34.97
29Lung cancerEnrichmentALK, BRAF, EGFR, ERBB2, KRAS, MET4.94
30Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, MAP2K1, TEK4.87
31Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.77
32Robinow syndrome, autosomal dominant 1EnrichmentDVL1, FZD2, WNT5A4.77
33CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB14.77
34Autosomal dominant robinow syndromeEnrichmentDVL1, FZD2, WNT5A4.77
35Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, HRAS, KIT4.51
36Myasthenic syndrome, congenital, 1b, fast-channelEnrichmentCHRNA1, CHRND, CHRNE4.39
37Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.37
38Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, RRAS4.18
39Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG4.08
40Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.96
41Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.96
42Non-immune hydrops fetalisEnrichmentEPHB4, FLT4, FZD6, HRAS, KRAS3.87
43Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, ROS13.85
44Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS3.84
45Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, KRAS, MAP2K13.84
46Gallbladder cancerEnrichmentBRAF, CTNNB1, KRAS3.84
47Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS3.84
48Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.75
49Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH13.75
50Lymphatic malformation 1EnrichmentEPHB4, FLT43.57
51Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT43.57
52Pulmonic stenosisEnrichmentBRAF, SOS13.57
53Pfeiffer syndromeEnrichmentFGFR1, FGFR23.57
54Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.57
55Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.57
56Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.57
57Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET3.57
58Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.57
59Hereditary lymphedema iEnrichmentEPHB4, FLT43.57
60Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCHRNA2, CHRNA4, CHRNB23.47
61Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, EGF3.47
62LymphangioleiomyomatosisEnrichmentTSC1, TSC23.41
63Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, MET3.39
64Tooth agenesisEnrichmentFGFR1, TGFA, WNT10A, WNT10B3.39
65Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.32
66Achromatopsia 3EnrichmentCNGA3, CNGB33.32
67Smoking as a quantitative trait locus 3EnrichmentCHRNA3, CHRNA53.32
68Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.32
69Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A3.32
70Multiple pterygium syndrome, lethal typeEnrichmentCHRNA1, CHRND, CHRNG3.27
71Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.27
72Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB93.23
73Split hand-foot malformationEnrichmentFGFR2, LEF13.23
74Hydrops fetalis, nonimmuneEnrichmentEPHB4, FLT4, FZD6, HRAS3.10
75Crouzon syndromeEnrichmentFGFR2, FGFR33.10
76Desmoid disease, hereditaryEnrichmentAPC, CTNNB13.10
77Osteoporosis, juvenileEnrichmentWNT1, WNT3A3.10
78Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.10
79Desmoid tumorEnrichmentAPC, CTNNB13.10
80Testicular germ cell cancerEnrichmentFGFR3, KIT3.10
81SpermatocytomaEnrichmentFGFR3, HRAS3.10
82Myeloma, multipleEnrichmentFGFR3, FLT3, KRAS, MST1R, PIK3R2, YAP13.09
83Centronuclear myopathyEnrichmentACTA1, CHRNA1, CHRND, DNM23.00
84Nk-cell enteropathyEnrichmentAXL, ERBB4, IGF1R2.96
85Specific learning disabilityEnrichmentMAPK1, RPS6KA3, YWHAG2.95
86Tuberous sclerosis 1EnrichmentTSC1, TSC22.94
87Fetal akinesia deformation sequence 1EnrichmentACTA1, CHRND, CHRNG, MUSK, ROR22.93
88Thyroid carcinoma, familial medullaryEnrichmentESR2, NTRK12.85
89Epilepsy, nocturnal frontal lobe, 1EnrichmentCHRNA4, CHRNB22.85
90Frontotemporal dementia 1EnrichmentCHRNA4, CHRNB4, CSF1R2.83
91Brachydactyly, type a2EnrichmentBMP2, GDF52.81
92Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK2.81
93Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.81
94Multiple synostoses syndromeEnrichmentGDF5, GDF62.81
95Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.81
96Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.81
97Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.81
98GliomaEnrichmentFGFR2, NTRK32.81
99HydrocephalusEnrichmentFGFR2, FZD3, PDGFRB2.77
100Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.77
101Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.77
102Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB82.76
103Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB82.76
104Alzheimer's diseaseEnrichmentCSF1R, MAPT, TNF2.72
105GliosarcomaEnrichmentEGFR, FGFR1, FGFR32.68
106Focal cortical dysplasia, type iiEnrichmentTSC1, TSC22.64
107Tuberous sclerosisEnrichmentTSC1, TSC22.64
108Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, YWHAZ2.64
109Isolated focal cortical dysplasia type iiEnrichmentTSC1, TSC22.64
110Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.61
111Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.59
112Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD42.59
113Insulin-like growth factor iEnrichmentIGF1, IGF1R2.59
114Ventricular septal defect 1EnrichmentBMP2, BMP72.59
115Robinow syndrome, autosomal dominant 2EnrichmentDVL1, FZD22.59
116Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.59
117HoloprosencephalyEnrichmentFGF8, FGFR12.59
118Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.59
119Autosomal dominant nocturnal frontal lobe epilepsyEnrichmentCHRNA4, CHRNB22.56
120Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, KRAS2.47
121RhabdomyosarcomaEnrichmentALK, CBL, HRAS2.45
122Gastric cancerEnrichmentAPC, CDH1, ERBB2, FGFR2, KRAS2.43
123Histiocytoid hemangiomaEnrichmentFOS, VIM2.42
124Atrial septal defect 1EnrichmentBMP2, TGFB22.42
125Holoprosencephaly 1EnrichmentFGF8, FGFR12.42
126Hemangioma, capillary infantileEnrichmentFLT4, KDR2.42
12746,xy disorder of sex developmentEnrichmentFGFR3, INSR2.42
128Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR32.41
129Macs syndromeEnrichmentGDF6, SOX2, WNT7B2.40
130Leukemia, acute myeloidEnrichmentFLT3, KIT, KRAS, NRAS2.40
131Cleft lip/palateEnrichmentBMP4, CDH1, PDGFRA2.37
132Pre-eclampsiaEnrichmentFLT1, NOS32.34
133Diffuse cutaneous systemic sclerosisEnrichmentCAV1, CCN22.34
134HepatoblastomaEnrichmentAPC, CTNNB1, FGFR32.33
135Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK2.28
136Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.28
137Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.28
138Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK12.28
139Breast adenocarcinomaEnrichmentAKT1, KRAS2.25
140Moyamoya disease 1EnrichmentACTA2, GUCY1A12.17
141Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR1, STUB12.17
142Limited sclerodermaEnrichmentCAV1, CCN22.17
143Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.16
144Hemochromatosis, type 1EnrichmentBMP2, BMP62.16
145Exudative vitreoretinopathyEnrichmentCTNNB1, FZD42.16
146Split-hand/foot malformation 1EnrichmentFGFR2, LEF12.08
147Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR2.07
148Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCHRNA3, CHRNA4, CHRNB4, CSF1R, ERBB42.07
149Loeys-dietz syndromeEnrichmentTGFB2, TGFB32.05
150Ventricular septal defectEnrichmentBRAF, TEK2.05
151Renal agenesis, bilateralEnrichmentFGF20, WNT9B2.05
152CraniosynostosisEnrichmentFGFR2, FGFR3, NPR22.05
153Marfan syndromeEnrichmentLTBP2, TGFB21.96
154Hirschsprung disease 1EnrichmentERBB2, ERBB3, NRG31.94
155Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.89
156Distal arthrogryposisEnrichmentACTA1, CHRND, CHRNG, ROR21.89
157Isolated split hand-split foot malformationEnrichmentBTRC, WNT10B1.82
158Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, PRKG1, TGFB2, TGFB31.82
159Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.81
160Septooptic dysplasiaEnrichmentFGFR1, SOX21.80
161Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.80
162Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB11.80
163Inherited cancer-predisposing syndromeEnrichmentALK, EGFR, KIT, MET, PDGFRA, TSC1, TSC21.79
164Lymphatic malformation 5EnrichmentEPHB41.79
165Brachydactyly, type b1EnrichmentROR21.79
166Erythroleukemia, familialEnrichmentERBB31.79
167HypochondroplasiaEnrichmentFGFR31.79
168Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.79
169Paget disease, extramammaryEnrichmentERBB21.79
170Osteoglophonic dysplasiaEnrichmentFGFR11.79
171Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.79
172Mullerian aplasia and hyperandrogenismEnrichmentWNT41.79
173Thanatophoric dysplasia, type iEnrichmentFGFR31.79
174Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.79
175Trigonocephaly 1EnrichmentFGFR11.79
176Donohue syndromeEnrichmentINSR1.79
177Spinocerebellar ataxia 27aEnrichmentFGF141.79
178Oculoectodermal syndromeEnrichmentKRAS1.79
179Muenke syndromeEnrichmentFGFR31.79
180Pallister-killian syndromeEnrichmentARAF1.79
181Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.79
182Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.79
183Noonan syndrome 5EnrichmentRAF11.79
184Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.79
185Hypomagnesemia 4, renalEnrichmentEGF1.79
186Glaucoma 3, primary congenital, dEnrichmentLTBP21.79
187Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.79
188Microphthalmia, isolated 4EnrichmentGDF61.79
189Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.79
190Noonan syndrome 4EnrichmentSOS11.79
191Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.79
19246,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.79
193Deafness, autosomal recessive 39EnrichmentHGF1.79
194Mastocytosis, cutaneousEnrichmentKIT1.79
195Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.79
196Melorheostosis, isolatedEnrichmentMAP2K11.79
197Omodysplasia 2EnrichmentFZD21.79
198Noonan syndrome 7EnrichmentBRAF1.79
199Leopard syndrome 3EnrichmentBRAF1.79
200Apert syndromeEnrichmentFGFR21.79
201Neuroblastoma 3EnrichmentALK1.79
202Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.79
203Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.79
204Cardiomyopathy, dilated, 1nnEnrichmentRAF11.79
205Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.79
206Split-hand/foot malformation 6EnrichmentWNT10B1.79
207Myofibromatosis, infantile, 1EnrichmentPDGFRB1.79
208Melanosis, neurocutaneousEnrichmentNRAS1.79
209Thanatophoric dysplasia, type iiEnrichmentFGFR31.79
210Noonan syndrome 9EnrichmentSOS21.79
211Lethal congenital contracture syndrome 2EnrichmentERBB31.79
212Caudal duplication anomalyEnrichmentAXIN11.79
213Noonan syndrome 6EnrichmentNRAS1.79
214Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.79
215Tooth agenesis, selective, 8EnrichmentWNT10B1.79
216Ciliary dyskinesia, primary, 33EnrichmentDRC41.79
217Gist-plus syndromeEnrichmentPDGFRA1.79
218Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.79
219Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.79
220Aplasia of lacrimal and salivary glandsEnrichmentFGF101.79
221Bent bone dysplasia syndrome 1EnrichmentFGFR21.79
222Weill-marchesani syndrome 3EnrichmentLTBP21.79
223Noonan syndrome 11EnrichmentMRAS1.79
224Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.79
225Noonan syndrome 13EnrichmentMAPK11.79
226Deafness, autosomal recessive 108EnrichmentROR11.79
227Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.79
228Developmental and epileptic encephalopathy 58EnrichmentNTRK21.79
229Multiple synostoses syndrome 4EnrichmentGDF61.79
230Intellectual developmental disorder, x-linked 110EnrichmentFGF131.79
231Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.79
232Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.79
233Hyperemesis gravidarumEnrichmentGDF151.79
234Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.79
235Deafness, autosomal recessive 125EnrichmentGAS21.79
236Hereditary lymphedema idEnrichmentVEGFC1.79
237Osteofibrous dysplasiaEnrichmentMET1.79
238Diarrhea 9EnrichmentWNT2B1.79
239Microphthalmia, syndromic 6EnrichmentBMP41.79
240Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.79
241Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.79
242Developmental and epileptic encephalopathy 90EnrichmentFGF131.79
243Orofacial cleft 11EnrichmentBMP41.79
244Metacarpal 4-5 fusionEnrichmentFGF161.79
245Lymphatic malformation 4EnrichmentVEGFC1.79
246Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.79
247Familial isolated trichomegalyEnrichmentFGF51.79
248Bone mineral density quantitative trait locus 16EnrichmentWNT11.79
249Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.79
250Deafness, autosomal recessive 97EnrichmentMET1.79
251Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.79
252LymphangiomaEnrichmentBRAF1.79
253Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.79
254Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.79
255Camurati-engelmann disease 2EnrichmentTGFB21.79
256Geleophysic dysplasia 3EnrichmentLTBP31.79
257Phace associationEnrichmentBRAF1.79
258Santos syndromeEnrichmentWNT7A1.79
259MelorheostosisEnrichmentMAP2K11.79
260Autism 9EnrichmentMET1.79
261Leopard syndrome 2EnrichmentRAF11.79
262Glaucoma 1, open angle, oEnrichmentNTF41.79
263Iron overloadEnrichmentBMP61.79
264Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.79
265Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.79
266Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.79
267Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.79
268Leber congenital amaurosis 17EnrichmentGDF61.79
269Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.79
270Amyotrophic lateral sclerosis 19EnrichmentERBB41.79
271Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.79
272Nasopharyngeal carcinoma 3EnrichmentMST1R1.79
273Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.79
274Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.79
275Microphthalmia/coloboma 11EnrichmentFZD51.79
276Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.79
277Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.79
278Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.79
279Kosaki overgrowth syndromeEnrichmentPDGFRB1.79
280Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.79
281Hartsfield syndromeEnrichmentFGFR11.79
282Congenital heart defects, multiple types, 7EnrichmentFLT41.79
283Loeys-dietz syndrome 5EnrichmentTGFB31.79
284Renal hypodysplasia/aplasia 2EnrichmentFGF201.79
285Bleeding disorder, platelet-type, 22EnrichmentEPHB21.79
28620p12.3 microdeletion syndromeEnrichmentBMP21.79
287Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.79
288Glaucoma 3, primary congenital, eEnrichmentTEK1.79
289Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.79
290Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.79
291Developmental and epileptic encephalopathy 47EnrichmentFGF121.79
292Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.79
293Chronic mast cell leukemiaEnrichmentKIT1.79
294Premature ovarian failure 14EnrichmentGDF91.79
295TrigonitisEnrichmentRAF11.79
296Warburg-cinotti syndromeEnrichmentDDR21.79
297Tufted angioma of skinEnrichmentKDR1.79
298Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.79
299Deafness, autosomal dominant 69EnrichmentKITLG1.79
300Thrombocytopenia 9EnrichmentTHPO1.79
301Adenoid ameloblastomaEnrichmentCTNNB11.79
302Arthrogryposis, distal, type 11EnrichmentMET1.79
303Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.79
304Csf1r-related disorderEnrichmentCSF1R1.79
305Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.79
306Bockenheimer syndromeEnrichmentTEK1.79
307Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.79
308Isolated bone marrow mastocytosisEnrichmentKIT1.79
309Congenital pulmonary airway malformationEnrichmentKRAS1.79
310Smoldering systemic mastocytosisEnrichmentKIT1.79
311Alk-positive anaplastic large cell lymphomaEnrichmentALK1.79
312Familial adenomatous polyposisEnrichmentAPC1.79
313Spinocerebellar ataxia type 27bEnrichmentFGF141.79
314Fgfr3-related chondrodysplasiaEnrichmentFGFR31.79
315MastocytosisEnrichmentKIT1.79
316Congenital primary lymphedema of gordonEnrichmentVEGFC1.79
317Syringocystadenoma papilliferumEnrichmentBRAF1.79
318Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.79
319Familial progressive hyperpigmentationEnrichmentKITLG1.79
320Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.79
321GangliogliomaEnrichmentBRAF1.79
322Cutaneous mastocytomaEnrichmentKIT1.79
323Nongerminomatous germ cell tumorEnrichmentBRAF1.79
324Phace syndromeEnrichmentBRAF1.79
325Gardner syndromeEnrichmentAPC1.79
326Typical urticaria pigmentosaEnrichmentKIT1.79
3275q22 microdeletion syndromeEnrichmentAPC1.79
328Phakomatosis pigmentokeratoticaEnrichmentHRAS1.79
329Attenuated familial adenomatous polyposisEnrichmentAPC1.79
330Classic hairy cell leukemiaEnrichmentBRAF1.79
331Nodular urticaria pigmentosaEnrichmentKIT1.79
332Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.79
333Alk-positive large b-cell lymphomaEnrichmentALK1.79
334Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.79
335Telangiectasia macularis eruptiva perstansEnrichmentKIT1.79
336Acute mast cell leukemiaEnrichmentKIT1.79
337Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.79
338Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.79
339Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.79
340Plaque-form urticaria pigmentosaEnrichmentKIT1.79
341Interstitial lung disease specific to childhoodEnrichmentFGF101.79
342Serous carcinoma of the corpus uteriEnrichmentERBB21.79
343Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.79
344Neurocutaneous melanocytosisEnrichmentNRAS1.79
345Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.79
346Microcystic stromal tumorEnrichmentCTNNB11.79
347Vein of galen aneurysmal malformationEnrichmentEPHB41.79
348Testis seminomaEnrichmentKIT1.79
349Brittle bone disorderEnrichmentBMP1, EIF2B2, WNT11.75
350Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentCHRNE, MUSK1.72
351AchromatopsiaEnrichmentCNGA3, CNGB31.72
352Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.70
353Proteus syndromeEnrichmentAKT11.70
354Parkinson disease 1, autosomal dominantEnrichmentSNCA1.70
355Coffin-lowry syndromeEnrichmentRPS6KA31.70
356Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP11.70
357Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.70
358Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD551.70
359Parkinson disease 4, autosomal dominantEnrichmentSNCA1.70
360Blood group, cromer systemEnrichmentCD551.70
361Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.70
362Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.70
363Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.70
364Ciliary dyskinesia, primary, 47, and lissencephalyEnrichmentTP731.70
365Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.70
366Short syndromeEnrichmentPIK3R11.70
367Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.70
368Parkinson-dementia syndromeEnrichmentMAPT1.70
369Auriculocondylar syndrome 2aEnrichmentPLCB41.70
370Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.70
371Supranuclear palsy, progressive, 1EnrichmentMAPT1.70
372Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP11.70
373Progressive supranuclear palsyEnrichmentMAPT1.70
374Spinocerebellar ataxia 14EnrichmentPRKCG1.70
375Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.70
376Multiple sclerosis 5EnrichmentTNFRSF1A1.70
377Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.70
378Cowden syndrome 6EnrichmentAKT11.70
379Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.70
380Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.70
381Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.70
382Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.70
383Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.70
384Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.70
385Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.70
386Thrombocytopenia 6EnrichmentSRC1.70
387Classic progressive supranuclear palsy syndromeEnrichmentMAPT1.70
388Auriculocondylar syndrome 2bEnrichmentPLCB41.70
389Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.70
390Congenital myopathy 26EnrichmentTUBA4A1.70
391Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.70
392Atypical progressive supranuclear palsy syndromeEnrichmentMAPT1.70
393Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.70
394Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.70
395Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.70
396Protein-losing enteropathyEnrichmentCD551.70
397Premature agingEnrichmentVIM1.70
398Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.70
399Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.70
400MedulloblastomaEnrichmentAPC, CTNNB11.67
401Hereditary breast carcinomaEnrichmentAKT1, APC, CDH1, KRAS1.66
402Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.66
403Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.66
404Achromatopsia 2EnrichmentCNGA31.66
405Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakutEnrichmentCHRNA31.66
406Baraitser-winter syndrome 1EnrichmentACTB1.66
407Charcot-marie-tooth disease, x-linked dominant, 6EnrichmentPDK31.66
408Caspase 8 deficiencyEnrichmentCASP81.66
409Pseudohypoparathyroidism, type icEnrichmentGNAS1.66
410Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.66
411Carney complex, type 1EnrichmentPRKAR1A1.66
412Epilepsy, nocturnal frontal lobe, 4EnrichmentCHRNA21.66
413Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.66
414Osseous heteroplasia, progressiveEnrichmentGNAS1.66
415Blood group, colton systemEnrichmentAQP11.66
416Myasthenic syndrome, congenital, 2a, slow-channelEnrichmentCHRNB11.66
417Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiencyEnrichmentCHRNB11.66
418Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM21.66
419Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.66
420Myopathy, scapulohumeroperonealEnrichmentACTA11.66
421Myasthenic syndrome, congenital, 3a, slow-channelEnrichmentCHRND1.66
422Aortic aneurysm, familial thoracic 8EnrichmentPRKG11.66
423Deafness, autosomal recessive 44EnrichmentADCY11.66
424Pulmonary hypertension, primary, 3EnrichmentCAV11.66
425Ventricular tachycardia, familialEnrichmentGNAI21.66
426Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.66
427Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.66
428Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.66
429Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.66
430Pituitary adenoma 3, multiple typesEnrichmentGNAS1.66
431Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.66
432Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.66
433Night blindness, congenital stationary, type1iEnrichmentGUCY2D1.66
434Deafness, autosomal recessive 68EnrichmentS1PR21.66
435Cardioacrofacial dysplasia 2EnrichmentPRKACB1.66
436Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.66
437Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.66
438Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiencyEnrichmentCHRND1.66
439Myxoma, intracardiacEnrichmentPRKAR1A1.66
440Lipodystrophy, familial partial, type 7EnrichmentCAV11.66
441Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.66
442Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.66
443Microvascular complications of diabetes 1EnrichmentVEGFA1.66
444Epilepsy, nocturnal frontal lobe, 3EnrichmentCHRNB21.66
445Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.66
446Myasthenic syndrome, congenital, 3b, fast-channelEnrichmentCHRND1.66
447Becker nevus syndromeEnrichmentACTB1.66
448Ovarian dysgenesis 8EnrichmentESR21.66
449Dystonia-deafness syndrome 1EnrichmentACTB1.66
450Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.66
451Glycerol quantitative trait locusEnrichmentAQP71.66
452Lethal congenital contracture syndrome 5EnrichmentDNM21.66
453Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.66
454Moyamoya disease 6 with or without achalasiaEnrichmentGUCY1A11.66
455Long qt syndrome 16EnrichmentCALM31.66
456Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.66
457Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.66
458Autosomal dominant familial visceral neuropathyEnrichmentACTG21.66
459Disorders of gnas inactivationEnrichmentGNAS1.66
460Retinitis pigmentosa 45EnrichmentCNGB11.66
461Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.66
462Cardioacrofacial dysplasia 1EnrichmentPRKACA1.66
463Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.66
464Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.66
465Sick sinus syndrome 4EnrichmentGNB21.66
466Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.66
467Moyamoya disease with early-onset achalasiaEnrichmentGUCY1A11.66
468Megalencephalic leukoencephalopathy with subcortical cysts 4, remittingEnrichmentAQP41.66
469Long qt syndrome 15EnrichmentCALM21.66
470Baraitser-winter syndromeEnrichmentACTB1.66
471Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM21.66
472Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.66
473Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.66
474Zebra body myopathyEnrichmentACTA11.66
475Congenital smooth muscle hamartomaEnrichmentACTB1.66
476Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.66
477Monostotic fibrous dysplasiaEnrichmentGNAS1.66
478Actin-accumulation myopathyEnrichmentACTA11.66
479Mazabraud syndromeEnrichmentGNAS1.66
480Myopathic intestinal pseudoobstructionEnrichmentACTG21.66
481Actg2 visceral myopathyEnrichmentACTG21.66
482MeningiomaEnrichmentAKT1, PDGFB1.64
483Leukemia, acute lymphoblasticEnrichmentFLT3, GNB11.64
484Heritable pulmonary arterial hypertensionEnrichmentCAV1, GDF21.64
485Body mass index quantitative trait locus 11EnrichmentADCY3, AQP7, BDNF, GNAS1.63
486Breast cancerEnrichmentAKT1, CASP8, ESR1, GNG3, IL21.62
487Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndromeEnrichmentCDH31.61
488Elsahy-waters syndromeEnrichmentCDH111.61
489Spinocerebellar ataxia 12EnrichmentPPP2R2B1.61
490Intellectual developmental disorder, autosomal dominant 3EnrichmentCDH151.61
491Mitral valve prolapse 2EnrichmentDCHS11.61
492Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.61
493Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.61
494Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.61
495Teebi hypertelorism syndrome 2EnrichmentCDH111.61
496Mehmo syndromeEnrichmentEIF2S31.61
497Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.61
498Leukoencephalopathy with vanishing white matter 3EnrichmentEIF2B31.61
499Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.61
500Houge-janssens syndrome 4EnrichmentPPP2R5C1.61
501Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH21.61
502Developmental and epileptic encephalopathy 17EnrichmentGNAO11.61
503Houge-janssens syndrome 2EnrichmentPPP2R1A1.61
504Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.61
505HypotrichosisEnrichmentCDH31.61
506Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH21.61
507Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB91.61
508Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.61
509Menke-hennekam syndrome 1EnrichmentCREBBP1.61
510Tsh producing pituitary tumorEnrichmentCDH231.61
511Attention deficit-hyperactivity disorder 8EnrichmentCDH21.61
512Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.61
513Leukoencephalopathy with vanishing white matter 2EnrichmentEIF2B21.61
514Breast lobular carcinomaEnrichmentCDH11.61
515Menke-hennekam syndromeEnrichmentCREBBP1.61
516Gnao1-related disorderEnrichmentGNAO11.61
517Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.61
518Wilms tumor 1EnrichmentBRAF, IGF21.61
519Osteogenesis imperfecta, type iiiEnrichmentBMP1, WNT11.61
520Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.51
521Acromicric dysplasiaEnrichmentLTBP31.49
522Cri-du-chat syndromeEnrichmentSEMA5A1.49
523Blue rubber bleb nevusEnrichmentTEK1.49
524Sorsby fundus dystrophyEnrichmentTIMP31.49
525Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.49
526Fibromatosis, gingival, 1EnrichmentSOS11.49
527Tooth agenesis, selective, 4EnrichmentWNT10A1.49
528Camurati-engelmann disease 1EnrichmentTGFB11.49
529Costello syndromeEnrichmentHRAS1.49
530Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.49
531TrichomegalyEnrichmentFGF51.49
532Schopf-schulz-passarge syndromeEnrichmentWNT10A1.49
533Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.49
534Kyphomelic dysplasiaEnrichmentCCN21.49
535Omodysplasia 1EnrichmentGPC61.49
536Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.49
537Bladder exstrophy and epispadias complexEnrichmentWNT31.49
538Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.49
539Pulmonary hypoplasia, primaryEnrichmentFGF101.49
540Dermatofibrosarcoma protuberansEnrichmentPDGFB1.49
541Cervical cancerEnrichmentFGFR31.49
542Odontoonychodermal dysplasiaEnrichmentWNT10A1.49
543Tetraamelia syndrome 1EnrichmentWNT31.49
544Parkinson disease 8, autosomal dominantEnrichmentGDF61.49
545Piebald traitEnrichmentKIT1.49
546Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.49
547Aural atresia, congenitalEnrichmentFGFR21.49
548Keratosis, seborrheicEnrichmentFGFR31.49
549Multiple synostoses syndrome 2EnrichmentGDF51.49
550Osteogenesis imperfecta, type xvEnrichmentWNT11.49
551Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.49
552Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.49
553Silver-russell syndrome 3EnrichmentIGF21.49
554Robinow syndrome, autosomal dominant 3EnrichmentFZD21.49
555Osteogenesis imperfecta, type xiiiEnrichmentBMP11.49
556Angioma, tuftedEnrichmentKDR1.49
557Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.49
558Brachydactyly, type a1, cEnrichmentGDF51.49
559Symphalangism, proximal, 1bEnrichmentGDF51.49
560Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.49
561Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.49
562Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.49
563Waardenburg syndrome, type 2fEnrichmentKITLG1.49
564Lymphatic malformation 11EnrichmentTIE11.49
565Noonan syndrome 12EnrichmentRRAS21.49
566Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.49
567Kowarski syndromeEnrichmentGH11.49
568Infantile myofibromatosisEnrichmentPDGFRB1.49
569Rosette-forming glioneuronal tumorEnrichmentFGFR11.49
570Papillary renal cell carcinomaEnrichmentMET1.49
571Congenital mesoblastic nephromaEnrichmentNTRK31.49
572Camurati-engelmann diseaseEnrichmentTGFB11.49
573Microphthalmia/coloboma 6EnrichmentGDF61.49
574Periampullary adenomaEnrichmentAPC1.49
575Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.49
576Cervix carcinomaEnrichmentFGFR31.49
577FibrosarcomaEnrichmentNTRK31.49
578Retinitis pigmentosa 38EnrichmentMERTK1.49
579Proximal symphalangismEnrichmentGDF51.49
580Craniosynostosis 7EnrichmentBMP21.49
581Acute myeloid leukemia without maturationEnrichmentFLT31.49
582Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.49
583Interfrontal craniofaciosynostosisEnrichmentFGFR11.49
584Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.49
585Short stature due to growth hormone qualitative anomalyEnrichmentGH11.49
586Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.49
587Chronic eosinophilic leukemiaEnrichmentPDGFRA1.49
588Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.49
589TeratomaEnrichmentCTNNB11.49
590B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.49
591Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.49
592Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.49
593B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.49
594Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.49
595Tafro syndromeEnrichmentMAP2K21.49
596Wooly hair nevusEnrichmentHRAS1.49
597Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.49
598Cone-rod dystrophy 6EnrichmentCNGB3, GUCY2D1.44
599Congenital myasthenic syndromeEnrichmentCHRNA1, CHRNE1.44
600CakutEnrichmentACTG1, GDF6, LIFR1.43
601Pulmonary hypertension, primary, 1EnrichmentEIF2AK4, GDF21.41
602Scoliosis, isolated 1EnrichmentMAPK71.41
603Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentTUBGCP61.41
604Ovarian germ cell cancerEnrichmentCBL1.41
605Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.41
606Pick disease of brainEnrichmentMAPT1.41
607Spermatogenic failure 17EnrichmentPLCZ11.41
608Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG11.41
609Cortical dysplasia, complex, with other brain malformations 15EnrichmentTUBGCP21.41
610Parkinson disease 15, autosomal recessive early-onsetEnrichmentSNCA1.41
611Immunodeficiency 127EnrichmentTNF1.41
612Microcephaly and chorioretinopathy 1EnrichmentTUBGCP61.41
613Cataract 30EnrichmentVIM1.41
614Ocular melanomaEnrichmentPLCB41.41
615Intermittent hydrarthrosisEnrichmentTNFRSF1A1.41
616Malignant germ cell tumor of ovaryEnrichmentCBL1.41
617Primary ovarian insufficiencyEnrichmentBMP6, KDR, NOS3, NTRK11.40
618Spinocerebellar ataxia 29EnrichmentITPR11.36
619Pseudohypoparathyroidism, type iaEnrichmentGNAS1.36
620Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.36
621Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.36
622Palmoplantar keratoderma, bothnian typeEnrichmentAQP51.36
623Aortic aneurysm, familial thoracic 2EnrichmentACTA21.36
624PseudopseudohypoparathyroidismEnrichmentGNAS1.36
625Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.36
626Deafness, autosomal dominant 20EnrichmentACTG11.36
627Smooth muscle dysfunction syndromeEnrichmentACTA21.36
628Aortic aneurysm, familial thoracic 6EnrichmentACTA21.36
629Diabetes insipidus, nephrogenic, 2, autosomalEnrichmentAQP21.36
630Baraitser-winter syndrome 2EnrichmentACTG11.36
631Lethal congenital contracture syndrome 8EnrichmentADCY61.36
632Duodenal atresiaEnrichmentGUCY2C1.36
633Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.36
634Epiphyseal chondrodysplasia, miura typeEnrichmentNPR21.36
635Moyamoya disease 5EnrichmentACTA21.36
636Night blindness, congenital stationary, type 1hEnrichmentGNB31.36
637Long qt syndrome 14EnrichmentCALM11.36
638Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.36
639Spinocerebellar ataxia 48EnrichmentSTUB11.36
640Usher syndrome, type ivEnrichmentPRKAR1A1.36
641Retinitis pigmentosa 49EnrichmentCNGA11.36
642AcrodysostosisEnrichmentPRKAR1A1.36
643PseudohypoparathyroidismEnrichmentGNAS1.36
644Chromosome 15q13.3 deletion syndromeEnrichmentCHRNA71.36
645Acromesomelic dysplasia 1EnrichmentNPR21.36
646Body mass index quantitative trait locus 19EnrichmentADCY31.36
647Fibrolamellar carcinomaEnrichmentPRKACA1.36
648Diarrhea 6EnrichmentGUCY2C1.36
649Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.36
650HypopituitarismEnrichmentGNAI21.36
651Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.36
652Congenital diarrhea 6EnrichmentGUCY2C1.36
653Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiencyEnrichmentGUCY2C1.36
654Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.36
655Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.36
656Intestinal obstructionEnrichmentACTG21.36
657Cerebral visual impairmentEnrichmentGNB11.36
658Alzheimer disease, familial, 1EnrichmentCSF1R, MAPT1.36
659Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, TGFB31.35
660Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, HGF, MET, ROR1, S1PR21.35
661Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.32
662Blepharocheilodontic syndrome 1EnrichmentCDH11.32
663Mitral valve prolapse 1EnrichmentDCHS11.32
664Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.32
665Thumb deformityEnrichmentCREBBP1.32
666Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentEIF2AK41.32
667Van maldergem syndrome 1EnrichmentDCHS11.32
668Hypotrichosis, congenital, with juvenile macular dystrophyEnrichmentCDH31.32
669Premature ovarian failure 3EnrichmentAGO21.32
670Pulmonary venoocclusive disease 2, autosomal recessiveEnrichmentEIF2AK41.32
671Deafness, autosomal recessive 84aEnrichmentCDH231.32
672Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB101.32
673Immunodeficiency 121 with autoinflammationEnrichmentPSMB101.32
674Birk-aharoni syndromeEnrichmentPSMC11.32
675Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.32
676Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.32
677Leukoencephalopathy with vanishing white matter 4EnrichmentEIF2B41.32
678Pulmonary venoocclusive disease 1EnrichmentEIF2AK41.32
679Pulmonary venoocclusive disease 2EnrichmentEIF2AK41.32
680Combined saposin deficiencyEnrichmentCDH231.32
681Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.32
682Combined psap deficiencyEnrichmentCDH231.32
683Houge-janssens syndrome 3EnrichmentPPP2CA1.32
684Pulmonary venoocclusive diseaseEnrichmentEIF2AK41.32
685Familial isolated pituitary adenomaEnrichmentCDH231.32
686Brachydactyly, type a1EnrichmentGDF51.32
687AchondroplasiaEnrichmentFGFR31.32
688Brachydactyly, type cEnrichmentGDF51.32
689Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.32
690Larsen syndromeEnrichmentFGFR31.32
691Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.32
692Ataxia-telangiectasiaEnrichmentBRAF1.32
693Exfoliation syndromeEnrichmentLTBP21.32
694Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.32
695Acromesomelic dysplasia 2aEnrichmentGDF51.32
696Thrombocythemia 1EnrichmentTHPO1.32
697Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.32
698Acromesomelic dysplasia 2cEnrichmentGDF51.32
699Acromesomelic dysplasia 2bEnrichmentGDF51.32
700Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.32
701Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.32
702Microphthalmia, syndromic 9EnrichmentWNT7B1.32
703Tooth agenesis, selective, 2EnrichmentWNT10A1.32
704Stuve-wiedemann syndrome 1EnrichmentLIFR1.32
705Autoimmune disease 1EnrichmentFOXD31.32
706Nuchal bleb, familialEnrichmentSOS11.32
707Muscular dystrophy, duchenne typeEnrichmentLTBP41.32
708Transposition of the great arteries, dextro-loopedEnrichmentBMP21.32
709Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.32
710Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.32
711Cenani-lenz syndactyly syndromeEnrichmentAPC1.32
712Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.32
713Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.32
714Anus, imperforateEnrichmentCTNNB11.32
715Exudative vitreoretinopathy 7EnrichmentCTNNB11.32
716Weill-marchesani syndrome 1EnrichmentLTBP21.32
717Primary polycythemiaEnrichmentEPOR1.32
718Tethered spinal cord syndromeEnrichmentBRAF1.32
719Bronchopulmonary dysplasiaEnrichmentMUSK1.32
720Autosomal recessive cutis laxa type iEnrichmentLTBP11.32
721Isolated growth hormone deficiency, type ibEnrichmentGH11.32
722Nail diseaseEnrichmentFZD61.32
723Lymphatic malformation 7EnrichmentEPHB41.32
724Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.32
725Tetraamelia syndromeEnrichmentWNT31.32
726Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.32
727High bone mass osteogenesis imperfectaEnrichmentBMP11.32
728Colon adenocarcinomaEnrichmentAPC1.32
729Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.32
730Mixed phenotype acute leukemia with tEnrichmentFLT31.32
731Geleophysic dysplasiaEnrichmentLTBP31.32
732Renal cell carcinomaEnrichmentMET1.32
733Stüve-wiedemann syndromeEnrichmentLIFR1.32
734Testicular cancerEnrichmentFGFR31.32
735Isolated klippel-feil syndromeEnrichmentGDF61.32
736Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.32
737Apc-associated polyposis conditionsEnrichmentAPC1.32
738MicrophthalmiaEnrichmentSOX2, WNT7B1.30
739Corpus callosum, agenesis ofEnrichmentCDH2, CREBBP1.30
740Isolated corpus callosum agenesisEnrichmentCDH2, CREBBP1.30
741Rare genetic intellectual disabilityEnrichmentCREBBP, GNAO11.30
742Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, CREBBP1.30
743Hypertension, essentialEnrichmentGNB3, NOS31.28
744West syndromeEnrichmentNTRK2, PLCB1, TSC21.25
745Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.23
746Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.23
747Psoriatic arthritisEnrichmentTNF1.23
748Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.23
749Nephrotic syndrome, type 3EnrichmentPLCE11.23
750Tuberous sclerosis 2EnrichmentTSC21.23
751Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.23
752Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.23
753Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.23
754Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.23
755Xanthinuria, type iiEnrichmentTSC21.23
756Immunodeficiency 14EnrichmentPIK3R11.23
757Migraine without auraEnrichmentTNF1.23
758Periventricular leukomalaciaEnrichmentRPS6KC11.23
759Respiratory failureEnrichmentTP731.23
760Cone-rod dystrophy 2EnrichmentCNGA1, CNGA3, CNGB3, GUCY2D1.21
761Congenital myopathyEnrichmentACTA1, CHRNA11.20
762Kaposi sarcomaEnrichmentIL61.19
763Isolated growth hormone deficiency, type iiEnrichmentGH11.19
764Erythrocytosis, familial, 1EnrichmentEPOR1.19
765Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.19
766Microphthalmia, syndromic 3EnrichmentSOX21.19
767Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.19
768Microtia-anotiaEnrichmentBMP51.19
769Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.19
770Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.19
771PilomatrixomaEnrichmentCTNNB11.19
772CholangiocarcinomaEnrichmentROS11.19
773Barrett esophagusEnrichmentERBB21.19
774Alazami syndromeEnrichmentCTNNB11.19
775Lung sarcomatoid carcinomaEnrichmentKRAS1.19
776Weill-marchesani syndromeEnrichmentLTBP21.19
777Chronic myelomonocytic leukemiaEnrichmentFLT31.19
778Ectodermal dysplasiaEnrichmentWNT10A1.19
779Retinopathy of prematurityEnrichmentFZD41.19
780Pilocytic astrocytomaEnrichmentKRAS1.19
781Newborn respiratory distress syndromeEnrichmentBRAF1.19
782Epidermolytic nevusEnrichmentHRAS1.19
783Eyelid colobomaEnrichmentFZD51.19
784Silver-russell syndrome due to a point mutationEnrichmentIGF21.19
785Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.19
786Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.19
787Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.19
788Gingival fibromatosisEnrichmentSOS11.19
789Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.19
790Lens colobomaEnrichmentFZD51.19
791Mccune-albright syndromeEnrichmentGNAS1.19
792Gillespie syndromeEnrichmentITPR11.19
793Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentGUCY2C1.19
794Myopathy, centronuclear, x-linkedEnrichmentDNM21.19
795Multiple pterygium syndrome, escobar variantEnrichmentCHRNG1.19
796Estrogen resistanceEnrichmentESR11.19
797Epilepsy, familial focal, with variable foci 2EnrichmentNPR21.19
798Nephrogenic diabetes insipidusEnrichmentAQP21.19
799Polr3-related leukodystrophyEnrichmentGUCY2D1.19
800Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.19
801Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.19
802ThrombocytopeniaEnrichmentSRC, THPO, TUBB11.16
803Optic atrophy plus syndromeEnrichmentCNGA3, CNGB3, GUCY2D1.15
804Menkes diseaseEnrichmentEIF2AK31.15
805Intraocular pressure quantitative trait locusEnrichmentCREBBP1.15
806Lessel-kreienkamp syndromeEnrichmentAGO21.15
807Advanced sleep phase syndromeEnrichmentCSNK1D1.15
808Thyroid hemiagenesisEnrichmentPSMD31.15
809Small cell cancer of the lungEnrichmentTP731.11
810Auriculocondylar syndrome 1EnrichmentPLCB41.11
811Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.11
812Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.11
813Developmental and epileptic encephalopathy 12EnrichmentPLCB11.11
814Congenital generalized lipodystrophyEnrichmentFOS1.11
815Malignant epithelioid hemangioendotheliomaEnrichmentYAP11.11
816Hereditary ataxiaEnrichmentPRKCG1.11
817TubulinopathyEnrichmentTUBB2A1.11
818Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentTUBGCP61.11
819Cerebral malariaEnrichmentTNF1.11
820Cataract 6, multiple typesEnrichmentEPHA21.10
821Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.10
822Norrie diseaseEnrichmentFZD41.10
823Rheumatoid arthritis, systemic juvenileEnrichmentIL61.10
824Atrioventricular septal defectEnrichmentBMP51.10
825Familial adenomatous polyposis 1EnrichmentAPC1.10
826Congenital heart defects, multiple types, 4EnrichmentBMP71.10
827Juvenile glaucomaEnrichmentLTBP21.10
828Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.10
829Persistent hyperplastic primary vitreousEnrichmentFZD41.10
830Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.10
831AniridiaEnrichmentEPHA21.10
832Coloboma of choroid and retinaEnrichmentFZD51.10
833Familial cerebral saccular aneurysmEnrichmentANGPTL61.10
834Parkinson disease, late-onsetEnrichmentMAPT, SNCA1.09
835Myocardial infarctionEnrichmentESR1, GUCY1A11.08
836Chorea, benign hereditaryEnrichmentADCY51.07
837Nemaline myopathy 2EnrichmentACTA11.07
838Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.07
839Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.07
840Pseudohypoparathyroidism, type ibEnrichmentGNAS1.07
841Autoimmune lymphoproliferative syndromeEnrichmentACTA21.07
842Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.07
843Carney complex variantEnrichmentPRKAR1A1.07
844Spinocerebellar ataxia 15EnrichmentITPR11.07
845Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.07
846Aminoacylase 1 deficiencyEnrichmentACTB1.07
847Meconium ileusEnrichmentGUCY2C1.07
848Short stature with nonspecific skeletal abnormalities 1EnrichmentNPR21.07
849Achromatopsia 4EnrichmentGNAI31.07
850Tobacco addictionEnrichmentCHRNA41.07
851Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentCHRNG1.07
852Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.07
853Color blindnessEnrichmentCNGA31.07
854Diabetes insipidusEnrichmentAQP21.07
855Intermediate nemaline myopathyEnrichmentACTA11.07
856Familial sick sinus syndromeEnrichmentGNB21.07
857Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.07
858Endometrial cancerEnrichmentCDH1, FGFR21.04
859Pituitary adenoma 5, multiple typesEnrichmentCDH231.03
860ProlactinomaEnrichmentCDH231.03
861Vacterl associationEnrichmentCDH131.03
862Glaucoma, primary open angleEnrichmentLTBP21.03
863Coloboma of optic nerveEnrichmentFZD51.03
864Cowden syndrome 1EnrichmentEGFR1.03
865Weyers acrofacial dysostosisEnrichmentCTNNB11.03
866Hemihyperplasia, isolatedEnrichmentIGF21.03
867Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.03
868Type 1 diabetes mellitusEnrichmentIL61.03
869Wilms tumor 5EnrichmentBRAF1.03
870Dental anomalies and short statureEnrichmentLTBP31.03
871Anterior segment dysgenesis 5EnrichmentBMP41.03
872Renal dysplasia, cysticEnrichmentWNT9B1.03
873Mitochondrial dna depletion syndrome 1EnrichmentTYMP1.03
874Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.03
875Inflammatory myofibroblastic tumorEnrichmentALK1.03
876Renal hypoplasiaEnrichmentWNT9B1.03
877DiarrheaEnrichmentWNT2B1.03
878Adrenocortical carcinomaEnrichmentCTNNB11.03
879Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.03
880Multicystic kidney dysplasiaEnrichmentFZD31.03
881Multicystic dysplastic kidneyEnrichmentFZD31.03
882Dementia, lewy bodyEnrichmentSNCA1.02
883Chromosome 15q11.2 deletion syndromeEnrichmentTUBG11.02
884Myeloproliferative neoplasmEnrichmentCBL1.02
885Vascular dementiaEnrichmentTNF1.02
886DementiaEnrichmentMAPT1.02
887Aggressive systemic mastocytosisEnrichmentCBL1.02
888Endometrial stromal sarcomaEnrichmentYWHAE1.02
889Cone dystrophyEnrichmentCNGA3, GUCY2D1.02
890Undetermined early-onset epileptic encephalopathyEnrichmentFGF12, NTRK2, YWHAG1.00
891Alzheimer disease 2EnrichmentNOS30.98
892Visceral myopathy 1EnrichmentACTG20.98
893Choroidal dystrophy, central areolar, 1EnrichmentGUCY2D0.98
8943-methylglutaconic aciduria, type iiiEnrichmentGUCY2D0.98
895Congenital myopathy 3 with rigid spineEnrichmentACTA10.98
896Myasthenic syndrome, congenital, 4a, slow-channelEnrichmentCHRNE0.98
897Myasthenic syndrome, congenital, 4b, fast-channelEnrichmentCHRNE0.98
898Macular degenerationEnrichmentCNGA30.98
899Severe congenital nemaline myopathyEnrichmentACTA10.98
900Silver-russell syndrome 1EnrichmentIGF20.96
901Squamous cell carcinoma, head and neckEnrichmentEGFR0.96
902Coats diseaseEnrichmentFZD40.96
903Waardenburg syndrome, type 2eEnrichmentKITLG0.96
904Renal cell carcinoma, papillary, 1EnrichmentMET0.96
905Essential thrombocythemiaEnrichmentTHPO0.96
906Hereditary hemorrhagic telangiectasiaEnrichmentGDF20.96
907Hypophosphatemic ricketsEnrichmentFGF230.96
908B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT30.96
909Melanoma, uvealEnrichmentPLCB40.95
910KeratoconusEnrichmentTSC10.95
911Kidney clear cell sarcomaEnrichmentYWHAE0.95
912Vater/vacterl associationEnrichmentCDH130.94
913Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB1, EIF2B2, FGFR3, GNAO10.93
914Nervous system diseaseEnrichmentCREBBP, CTNNB1, EIF2B2, FGFR3, GNAO10.93
915Developmental and epileptic encephalopathy 1EnrichmentCSNK1E, GNAO10.91
916Arthrogryposis, distal, type 1aEnrichmentMET0.91
917Glioma susceptibility 1EnrichmentERBB20.91
918Renal hypodysplasia/aplasia 1EnrichmentWNT9B0.91
919Isolated growth hormone deficiency, type iaEnrichmentGH10.91
920Lymphoma, non-hodgkin, familialEnrichmentBRAF0.91
921Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.91
922NeuroblastomaEnrichmentALK0.91
923Early-onset posterior polar cataractEnrichmentEPHA20.91
924Myopathy, centronuclear, 1EnrichmentDNM20.91
925Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.91
926Intestinal pseudo-obstructionEnrichmentACTG20.91
927Typical nemaline myopathyEnrichmentACTA10.91
928Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.88
929MyelofibrosisEnrichmentSRC0.88
930Semantic dementiaEnrichmentMAPT0.88
931Polycystic kidney disease 1EnrichmentTSC20.88
932Overgrowth syndromeEnrichmentPIK3R10.88
933Developmental dysplasia of the hip 1EnrichmentPSMC30.86
934Wolf-hirschhorn syndromeEnrichmentCTBP10.86
935Rubinstein-taybi syndrome 1EnrichmentCREBBP0.86
936Usher syndrome, type idEnrichmentCDH230.86
937Deafness, autosomal recessive 12EnrichmentCDH230.86
938Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP0.86
939Patent ductus arteriosusEnrichmentPSMC30.86
940HypertrichosisEnrichmentCREBBP0.86
941Syndromic rod-cone dystrophyEnrichmentCDH230.86
942Cleft lip with or without cleft palateEnrichmentCDH10.86
943Orofacial cleft 1EnrichmentFGF100.86
944Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.86
945Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT30.86
946Hypogonadotropic hypogonadismEnrichmentFGFR10.86
947Congenital central hypoventilation syndromeEnrichmentBDNF0.86
948Primary hyperaldosteronismEnrichmentBRAF0.86
949Colonic benign neoplasmEnrichmentAPC0.86
950Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.86
951BrachydactylyEnrichmentGNAS0.84
952Childhood-onset nemaline myopathyEnrichmentACTA10.84
953Long qt syndromeEnrichmentCALM1, CALM20.83
954Gastroesophageal refluxEnrichmentRPS6KA30.83
955Orthostatic intoleranceEnrichmentRPS6KA30.83
956Lennox-gastaut syndromeEnrichmentMAPK100.83
957Type 2 diabetes mellitusEnrichmentIL6, INSR0.82
958Cat eye syndromeEnrichmentFZD50.82
959Meier-gorlin syndrome 1EnrichmentFGFR20.82
960Peters-plus syndromeEnrichmentBMP40.82
961Stickler syndromeEnrichmentBMP40.82
962MelanomaEnrichmentBRAF0.82
963Primary bone dysplasiaEnrichmentFGFR30.82
964Connective tissue diseaseEnrichmentACTA2, FGFR30.81
965Peripheral nervous system diseaseEnrichmentCHRNG, NGF0.81
966NeuropathyEnrichmentCHRNG, NGF0.81
967Prostate cancerEnrichmentCDH1, EPHB20.81
968Meniere diseaseEnrichmentCDH230.80
969Usher syndrome, type iiaEnrichmentCDH230.80
970Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.79
971Leber congenital amaurosis 1EnrichmentGUCY2D0.79
972Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.79
973HypothyroidismEnrichmentGNB10.79
974Nephrotic syndrome, type 1EnrichmentPLCE10.78
975Charge syndromeEnrichmentTNFRSF1A0.78
976Developmental and epileptic encephalopathy 14EnrichmentPLCB10.78
977Progressive non-fluent aphasiaEnrichmentMAPT0.78
978Cowden syndromeEnrichmentAKT10.78
979Behavioral variant of frontotemporal dementiaEnrichmentMAPT0.78
980Meningioma, familialEnrichmentPDGFB0.78
981NanophthalmosEnrichmentSOX20.78
982OsteochondrodysplasiaEnrichmentFGFR30.78
983Eye diseaseEnrichmentCNGA3, CNGB30.75
984Choreatic diseaseEnrichmentGNAO10.75
985Cutis laxaEnrichmentLTBP40.75
986Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.75
987Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.75
988Rheumatoid arthritisEnrichmentCHRNG0.74
989MicrocephalyEnrichmentCTNNB1, GNAO1, IGF1R, MAPK1, PSMC30.74
990Cataract 30, multiple typesEnrichmentVIM0.74
991Stroke, ischemicEnrichmentPRKCH0.74
992Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.74
993Aortic valve disease 1EnrichmentSOS10.71
994Microphthalmia/coloboma 12EnrichmentFZD50.71
995Osteogenesis imperfecta, type ivEnrichmentWNT10.71
996Amelogenesis imperfectaEnrichmentLTBP30.71
997Chronic kidney diseaseEnrichmentWNT9B0.71
998Protein-deficiency anemiaEnrichmentNRAS0.71
999AsthmaEnrichmentTNF0.70
1000Nemaline myopathyEnrichmentACTA10.70
1001Hypotrichosis simplexEnrichmentCDH30.70
1002Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.69
1003OsteoporosisEnrichmentWNT10.69
1004Generalized epilepsy with febrile seizures plusEnrichmentFGF130.69
1005CataractEnrichmentEPHA20.69
100646,xy partial gonadal dysgenesisEnrichmentSOS10.69
1007Cerebral palsyEnrichmentGNB1, PDGFRB0.68
1008Congenital hypothyroidismEnrichmentTUBB10.67
1009Early-onset parkinson's diseaseEnrichmentSNCA0.67
1010Migraine with or without aura 1EnrichmentESR10.67
1011Myelodysplastic syndromeEnrichmentGNB10.67
1012MyopathyEnrichmentACTA1, DNM20.66
1013Omenn syndromeEnrichmentPSMB100.66
1014PolymicrogyriaEnrichmentPSMC30.66
1015Coloboma of maculaEnrichmentFZD50.66
1016Renal cell carcinoma, nonpapillaryEnrichmentMET0.66
1017Lynch syndromeEnrichmentKRAS0.66
1018Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.64
1019Congenital long qt syndromeEnrichmentITPR30.63
1020Usher syndrome type 2EnrichmentCDH230.62
1021Movement diseaseEnrichmentGNAO10.62
1022Multiple sclerosisEnrichmentTNFRSF1A0.61
1023Melanoma, cutaneous malignant 1EnrichmentBRAF0.61
1024Cataract 44EnrichmentEPHA20.61
1025Polycystic liver diseaseEnrichmentCTNNB10.61
1026Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.61
1027Pulmonary disease, chronic obstructiveEnrichmentCHRNB40.60
1028Acute promyelocytic leukemiaEnrichmentPRKAR1A0.60
1029Beckwith-wiedemann syndromeEnrichmentIGF20.59
1030Heart, malformation ofEnrichmentMAPK10.59
1031Human immunodeficiency virus type 1EnrichmentCXCL120.59
1032Early-onset nuclear cataractEnrichmentEPHA20.59
1033Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.59
1034Kidney diseaseEnrichmentTSC10.59
1035Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB4, YWHAZ0.58
1036Diffuse large b-cell lymphomaEnrichmentBRAF0.57
1037Ehlers-danlos syndromeEnrichmentTGFB20.57
1038Premature menopauseEnrichmentEIF2B20.56
1039HypertelorismEnrichmentFGFR2, RPS6KA30.56
1040Congenital myopathy 4a, autosomal dominantEnrichmentACTA10.55
1041Anterior segment dysgenesisEnrichmentITPR10.55
1042Heart diseaseEnrichmentCREBBP0.53
1043Wolff-parkinson-white syndromeEnrichmentPRKAG20.53
1044Visceral heterotaxyEnrichmentLEFTY20.52
1045Usher syndrome, type iEnrichmentCDH230.51
1046Cleft palate, isolatedEnrichmentGNB10.50
1047Sudden infant death syndromeEnrichmentCALM20.50
1048Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, KITLG0.50
1049Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT30.50
1050Behcet syndromeEnrichmentTNFRSF1A0.50
1051Sensorineural hearing lossEnrichmentCDH23, HGF0.49
1052Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.49
1053Neuromuscular diseaseEnrichmentACTA10.48
1054Focal segmental glomerulosclerosisEnrichmentPLCE10.48
1055Pancreatic cancerEnrichmentKRAS0.47
1056Leber plus diseaseEnrichmentCNGB3, GDF6, GUCY2D0.46
1057LissencephalyEnrichmentTUBG10.46
1058Brugada syndromeEnrichmentSEMA3A0.46
1059Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, CSNK2A1, PPP2CA0.45
1060Patent foramen ovaleEnrichmentPSMC30.45
1061Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.45
1062MalariaEnrichmentTNF0.43
1063Dilated cardiomyopathyEnrichmentBRAF, RAF10.42
1064Autoinflammatory diseaseEnrichmentTNFRSF1A0.42
1065Attention deficit-hyperactivity disorderEnrichmentGNB50.41
1066Hereditary breast ovarian cancer syndromeEnrichmentEIF2B5, KRAS0.41
1067Congenital stationary night blindnessEnrichmentGNB30.40
1068Cystic fibrosisEnrichmentTGFB10.39
1069ScoliosisEnrichmentCHRNG0.39
1070Familial hypertrophic cardiomyopathyEnrichmentRAF10.38
1071Left ventricular noncompactionEnrichmentRAF10.36
1072Ear malformationEnrichmentCDH230.35
1073Hereditary retinal dystrophyEnrichmentCNGA1, CNGA3, CNGB1, CNGB3, GUCY2D, MERTK, TIMP30.35
1074Fundus dystrophyEnrichmentCNGA1, CNGA3, CNGB1, CNGB3, GUCY2D, MERTK, TIMP30.35
1075StrabismusEnrichmentGNB10.35
1076Auditory neuropathyEnrichmentCDH20.32
1077Stargardt disease 1EnrichmentCNGB30.31
1078Retinitis pigmentosaEnrichmentCNGA1, CNGB1, CNGB3, GUCY2D, MERTK0.31
1079Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.31
1080Primary ciliary dyskinesiaEnrichmentDRC4, PRKAR1B0.30
1081Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.29
1082DystoniaEnrichmentGNB10.27
1083Systemic lupus erythematosusEnrichmentTNF0.27
1084Non-syndromic genetic deafnessEnrichmentACTG10.26
1085Usher syndromeEnrichmentCDH230.25
1086Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.25
1087Centralopathic epilepsyEnrichmentPLCB10.24
1088Nephrotic syndromeEnrichmentPLCE10.24
1089Familial isolated dilated cardiomyopathyEnrichmentRAF10.23
1090Developmental and epileptic encephalopathyEnrichmentGNAO10.23
1091Charcot-marie-tooth diseaseEnrichmentDNM20.22
1092Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.22
1093Nonsyndromic hearing lossEnrichmentACTG10.22
1094Hypertrophic cardiomyopathyEnrichmentPRKAG20.21
1095Autism spectrum disorderEnrichmentMAP2K1, TSC20.19
1096Spastic ataxiaEnrichmentITPR10.16
1097Mitochondrial diseaseEnrichmentGFER0.12
1098Deafness, autosomal recessiveEnrichmentCDH230.10
1099Autosomal recessive nonsyndromic deafnessEnrichmentCDH230.10
1100AutismEnrichmentCHRNA10.10
1101Rare genetic deafnessEnrichmentACTG10.08

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