PAK Pathway

Pathway network for the PAK Pathway SuperPath

Sources:
  • QIAGEN

Pathways in the PAK Pathway SuperPath

#NameSourceGenes
1PAK PathwayQIAGEN
(see all 340) (see less)
2Antioxidant Action of Vitamin-CQIAGEN
(see all 491) (see less)
3Epithelial Adherens JunctionsQIAGEN
(see all 331) (see less)

Gene overlap in member pathways for PAK Pathway SuperPath

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

Disorders associated with PAK Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CX3CR1, CXCL12, CXCR1, IL10, IL1916.00
2Colorectal cancerEnrichmentAKT1, CDH1, CTNNA1, CTNNB1, ERBB2, IGF2, MET, MYO1B, NRAS, PTPN12, PTPRJ, SMAD4, SRC6.76
3Noonan syndrome 1EnrichmentHRAS, KRAS, MRAS, NRAS, PTPN11, RRAS, RRAS26.07
4Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, MYH11, NOTCH1, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR26.04
5Loeys-dietz syndromeEnrichmentSMAD3, TGFB2, TGFB3, TGFBR1, TGFBR26.01
6Lung non-small cell carcinomaEnrichmentEGFR, ERBB2, HRAS, KRAS, NRAS5.46
7Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, KITLG, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A, PTPRQ5.40
8Bladder cancerEnrichmentCTNNA3, CTNNB1, EGFR, ERBB2, HRAS, KRAS, PTEN5.32
9Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS4.89
10Lung cancer susceptibility 3EnrichmentACTA2, EGFR, ERBB2, FGF10, KRAS4.85
11Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR34.81
12ThrombocytopeniaEnrichmentACTN1, MYH9, PTPN11, SMAD4, SRC, THPO, TUBB1, WAS4.73
13Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, TGFB14.62
14Microform holoprosencephalyEnrichmentCRIPTO, DLL1, FGF8, FGFR1, GAS14.53
15Lobar holoprosencephalyEnrichmentCRIPTO, DLL1, FGF8, FGFR1, GAS14.53
16RasopathyEnrichmentHRAS, KRAS, MRAS, NRAS, PTPN11, RRAS24.51
17Ovarian cancerEnrichmentAKT1, CDH1, CTNNB1, EGFR, ERBB2, HNF1A, HNF1B, KRAS, MET, PTEN, RRAS24.46
18Behcet syndromeEnrichmentCCR1, FAS, IL10, IL12A, IL23R, TNFRSF1A4.40
19Semilobar holoprosencephalyEnrichmentCRIPTO, DLL1, FGF8, FGFR1, GAS14.26
20Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.25
21Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, CTNNA1, KRAS4.25
22Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG2, MYH11, MYLK4.21
23Autoimmune lymphoproliferative syndromeEnrichmentACTA2, CASP10, FASLG4.21
24Type 2 diabetes mellitusEnrichmentAKT2, HNF1A, HNF1B, HNF4A, IL6, PTPN1, TCF7L24.20
25Marfan syndromeEnrichmentLTBP2, TGFB2, TGFBR1, TGFBR24.19
26Arteriovenous malformations of the brainEnrichmentCDH2, EGFR, IL6, KRAS, TIMP34.13
27Lung cancerEnrichmentACTA2, CASP8, EGFR, FASLG, KRAS, MET3.91
28Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, PTPN11, RRAS3.83
29Visceral myopathy 1EnrichmentACTG2, MYH11, MYLK3.82
30Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB3.82
31Brachydactyly, type a2EnrichmentBMP2, BMPR1B, GDF53.74
32Chronic granulomatous diseaseEnrichmentCYBB, NCF1, NCF2, NCF43.73
33Non-syndromic genetic deafnessEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A3.67
34Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, CTNNA3, JUP, TGFB33.54
35Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG3.53
36Hemangioma, capillary infantileEnrichmentFLT4, KDR, MYH93.53
37Lung squamous cell carcinomaEnrichmentEGFR, FGFR3, KRAS3.53
38Septopreoptic holoprosencephalyEnrichmentCRIPTO, DLL1, FGF8, GAS13.42
39Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, DLL1, FGF8, GAS13.42
40Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, PTPN113.42
41Hemifacial hyperplasiaEnrichmentFGFR2, FGFR3, FLNC3.35
42Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS, PTEN3.33
43Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN113.33
44Gallbladder cancerEnrichmentCTNNB1, KRAS, SMAD43.33
45Follicular thyroid carcinomaEnrichmentHRAS, NRAS, PTEN3.33
46Nonsyndromic hearing lossEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A3.30
47Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS, NTRK23.30
48Hypertrophic cardiomyopathyEnrichmentACTN2, MYH7, MYH7B, MYL2, MYL3, PTPN113.24
49Blepharocheilodontic syndrome 1EnrichmentCDH1, CTNND13.23
50Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.23
51Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.23
52Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.23
53Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET3.23
54Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.23
55Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.23
56Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A, HNF4A3.23
57Pfeiffer syndromeEnrichmentFGFR1, FGFR23.20
58Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.20
59Alobar holoprosencephalyEnrichmentCRIPTO, DLL1, FGF8, GAS13.19
60Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS, NTRK1, NTRK33.16
61Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH13.09
62Non-immune hydrops fetalisEnrichmentACTA1, ANGPT2, FLT4, HRAS, KRAS3.02
63Fibrodysplasia ossificans progressivaEnrichmentACVR1, BMPR22.88
64Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA2.88
65Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET, MYH9, MYO15A, MYO3A, MYO6, MYO7A, PTPRQ2.83
66Common variable immunodeficiencyEnrichmentCD40LG, NFKB1, TNFRSF13B2.83
67LissencephalyEnrichmentACTG1, TUBB2B, TUBB3, TUBG12.82
68Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, TUBA8, TUBB12.82
69Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH9, TUBB12.76
70Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF6, MYO18B2.76
71Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.76
72Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR22.76
73Chromophobe renal cell carcinomaEnrichmentHNF1A, HNF1B2.76
74Intraocular pressure quantitative trait locusEnrichmentCREBBP, ZEB12.76
75Tubulinopathy-associated dysgyriaEnrichmentTUBB2B, TUBB32.76
76Tricuspid valve insufficiencyEnrichmentMYH11, PTPN112.76
77KeratoacanthomaEnrichmentNOTCH1, NOTCH22.76
78Crouzon syndromeEnrichmentFGFR2, FGFR32.73
79Psoriatic arthritisEnrichmentLTA, TNF2.73
80Testicular germ cell cancerEnrichmentFGFR3, KIT2.73
81SpermatocytomaEnrichmentFGFR3, HRAS2.73
82Pectus excavatumEnrichmentPTPN11, TCF20, TGFBR12.69
83Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A2.67
84GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA2.66
85AsthmaEnrichmentCCL11, IL13, TNF2.65
86MeningiomaEnrichmentAKT1, PDGFB, PTEN2.57
87Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentCTNNA3, JUP, TGFB32.57
88Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentCTNNA3, JUP, TGFB32.57
89Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA2.56
90Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, KIT2.54
91Dilated cardiomyopathyEnrichmentACTA1, ACTN2, JUP, MYH6, MYH7, MYL2, VCL2.48
92Maturity-onset diabetes of the young, type 3EnrichmentHNF1A, HNF4A2.46
93Multiple synostoses syndromeEnrichmentGDF5, GDF62.46
94Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.46
95TubulinopathyEnrichmentTUBB2A, TUBB2B2.46
96Aortic aneurysmEnrichmentSMAD3, TGFBR12.46
97Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC42, PTPN112.46
98Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.44
99Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT, MYH112.44
100GliomaEnrichmentFGFR2, NTRK32.44
101Gastric cancerEnrichmentCDH1, ERBB2, KRAS, PTEN, SMAD42.42
102Brachydactyly, type a1EnrichmentBMPR1B, GDF52.42
103Brachydactyly, type cEnrichmentBMPR1B, GDF52.42
104Larsen syndromeEnrichmentFGFR3, FLNB2.42
105Arterial tortuosity syndromeEnrichmentFLNA, SLC2A102.42
106Acromesomelic dysplasia 2aEnrichmentBMPR1B, GDF52.42
107Acromesomelic dysplasia 2cEnrichmentBMPR1B, GDF52.42
108Acromesomelic dysplasia 2bEnrichmentBMPR1B, GDF52.42
109Mycosis fungoidesEnrichmentCD28, TNFRSF1B2.42
110Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF1, NCF22.42
111Spondylocarpotarsal synostosis syndromeEnrichmentFLNB, MYH32.42
112Saczary syndromeEnrichmentCD28, TNFRSF1B2.42
113Aortic aneurysm, familial thoracic 1EnrichmentMYH11, NOTCH1, SMAD32.37
114Cleft lip/palateEnrichmentBMP4, CDH1, NECTIN12.37
115Nemaline myopathyEnrichmentACTA1, FLNC, MYO18B2.33
116Renal cell carcinoma, nonpapillaryEnrichmentHNF1A, HNF1B, MET2.28
117Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, MYH7, MYL22.28
118Congenital myopathy 3 with rigid spineEnrichmentACTA1, MYH72.25
119Ventricular septal defect 1EnrichmentBMP2, BMP72.25
120Fuchs' endothelial dystrophyEnrichmentTCF4, ZEB12.25
121HoloprosencephalyEnrichmentFGF8, FGFR12.25
122HemimegalencephalyEnrichmentAKT3, PTEN2.25
123Familial cerebral saccular aneurysmEnrichmentANGPTL6, TGFBR32.25
124Insulin-like growth factor iEnrichmentIGF1, IGF1R2.22
125Heritable pulmonary arterial hypertensionEnrichmentACVRL1, BMPR2, GDF22.20
126Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN2, CTNNA3, JUP2.20
127Connective tissue diseaseEnrichmentACTA2, NOTCH1, SMAD3, TGFBR22.14
128Granulomatous disease, chronic, x-linkedEnrichmentCYBB, NCF12.13
129Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK2.13
130Carney complex variantEnrichmentMYH8, PRKAR1A2.13
131Familial hypertrophic cardiomyopathyEnrichmentACTN2, MYH7, MYL2, MYL32.09
132Atrial septal defect 1EnrichmentBMP2, TGFB22.08
133Cowden syndrome 1EnrichmentEGFR, PTEN2.08
134Hemihyperplasia, isolatedEnrichmentIGF2, RHOA2.08
135Holoprosencephaly 1EnrichmentFGF8, FGFR12.08
136Type 1 diabetes mellitusEnrichmentHNF1A, IL62.08
137Intestinal pseudo-obstructionEnrichmentACTG2, MYH112.08
138Congenital fibrosis of the extraocular musclesEnrichmentTUBB2B, TUBB32.08
139Breast adenocarcinomaEnrichmentAKT1, KRAS2.08
140Cleft lip with or without cleft palateEnrichmentCDH1, CTNND12.08
141Typical nemaline myopathyEnrichmentACTA1, CFL22.06
142Breast cancerEnrichmentAKT1, CDH1, HNF1A, IL2, KRAS, PTEN2.00
143Cardiomyopathy, familial hypertrophic, 1EnrichmentFLNC, MYH6, MYH7, MYH7B1.99
144Pulmonary hypertension, primary, 1EnrichmentACVRL1, BMPR2, GDF21.99
145Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR21.98
146Hereditary breast ovarian cancer syndromeEnrichmentCTNNA1, CTNNA2, KRAS, MYO7A, PTEN1.97
147Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN1.94
148Waardenburg syndrome, type 2eEnrichmentKITLG, SNAI21.94
149Leukemia, chronic myeloidEnrichmentKRAS, NRAS1.94
150Hereditary hemorrhagic telangiectasiaEnrichmentGDF2, SMAD41.94
151Oligoarticular juvenile idiopathic arthritisEnrichmentPTPN2, PTPN221.94
152Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentPTPN2, PTPN221.94
153Maturity-onset diabetes of the youngEnrichmentHNF1A, HNF1B, HNF4A1.92
154CraniosynostosisEnrichmentCTNNA1, TCF12, TCF201.92
155Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA1.92
156Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK11.92
157Diffuse cutaneous systemic sclerosisEnrichmentCCN2, CCR61.92
158Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RA, CSF2RB1.92
159Arthrogryposis, distal, type 1aEnrichmentMET, MYH31.82
160Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS1.82
161Hemochromatosis, type 1EnrichmentBMP2, BMP61.82
162Hypoplastic left heart syndromeEnrichmentMYH6, NOTCH11.82
163Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB1.80
164Hepatocellular carcinomaEnrichmentCASP8, IGF2R, MET1.77
165Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB, TGFB11.75
166Chronic mucocutaneous candidiasisEnrichmentIL17RA, IL17RC1.75
167Limited sclerodermaEnrichmentCCN2, CCR61.75
168Inherited arrhythmogenic cardiomyopathyEnrichmentFLNC, MYH71.75
169Adult hepatocellular carcinomaEnrichmentCTNNB1, EGF1.72
170Cowden syndromeEnrichmentAKT1, PTEN1.72
171Familial thoracic aortic aneurysm and dissectionEnrichmentMYH11, SMAD31.72
172Ear malformationEnrichmentMYO15A, MYO6, MYO7A1.70
173Hereditary breast carcinomaEnrichmentAKT1, CDH1, KRAS, PTEN1.66
174Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK1.61
175Essential thrombocythemiaEnrichmentJAK2, THPO1.61
176Familial isolated restrictive cardiomyopathyEnrichmentFLNC, MYL21.61
177Proteus syndromeEnrichmentAKT11.61
178Paget disease, extramammaryEnrichmentERBB21.61
179Osteoglophonic dysplasiaEnrichmentFGFR11.61
180MetachondromatosisEnrichmentPTPN111.61
181Hepatic adenomas, familialEnrichmentHNF1A1.61
182Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.61
183Trigonocephaly 1EnrichmentFGFR11.61
184Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.61
185Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1aEnrichmentMYH31.61
186Spinocerebellar ataxia 27aEnrichmentFGF141.61
187Baraitser-winter syndrome 1EnrichmentACTB1.61
188Cleft lip/palate-ectodermal dysplasia syndromeEnrichmentNECTIN11.61
189Oculoectodermal syndromeEnrichmentKRAS1.61
190Vacterl association with hydrocephalusEnrichmentPTEN1.61
191Thrombocytopenia 1EnrichmentWAS1.61
192Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.61
193Focal segmental glomerulosclerosis 1EnrichmentACTN41.61
194Deafness, autosomal recessive 2EnrichmentMYO7A1.61
195Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP1.61
196Hypomagnesemia 4, renalEnrichmentEGF1.61
197Glaucoma 3, primary congenital, dEnrichmentLTBP21.61
198Microphthalmia, isolated 4EnrichmentGDF61.61
199Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.61
200Deafness, autosomal dominant 17EnrichmentMYH91.61
201Deafness, autosomal dominant 48EnrichmentMYO1A1.61
202Macular dystrophy, patterned, 2EnrichmentCTNNA11.61
203Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.61
204Deafness, autosomal recessive 39EnrichmentHGF1.61
205Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL31.61
206Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN21.61
207Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.61
208Hajdu-cheney syndromeEnrichmentNOTCH21.61
209Alagille syndrome 2EnrichmentNOTCH21.61
210Breasts and/or nipples, aplasia or hypoplasia of, 1EnrichmentPTPRF1.61
211Deafness, autosomal dominant 22EnrichmentMYO61.61
212Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.61
213Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.61
214Leopard syndrome 1EnrichmentPTPN111.61
215Prostate cancer, hereditary, 11EnrichmentHNF1B1.61
216Lateral meningocele syndromeEnrichmentNOTCH31.61
217Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.61
218Melanosis, neurocutaneousEnrichmentNRAS1.61
219Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A1.61
220Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.61
221Myopathy, scapulohumeroperonealEnrichmentACTA11.61
222Noonan syndrome 6EnrichmentNRAS1.61
223Cardiomyopathy, dilated, 1eeEnrichmentMYH61.61
224Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.61
225Sick sinus syndrome 3EnrichmentMYH61.61
226Griscelli syndrome, type 1EnrichmentMYO5A1.61
227Fetal encasement syndromeEnrichmentCHUK1.61
228Ciliary dyskinesia, primary, 33EnrichmentDRC41.61
229Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.61
230Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.61
231Elliptocytosis 1EnrichmentEPB411.61
232Aplasia of lacrimal and salivary glandsEnrichmentFGF101.61
233Arrhythmogenic right ventricular dysplasia, familial, 13EnrichmentCTNNA31.61
234Weill-marchesani syndrome 3EnrichmentLTBP21.61
235Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.61
236Noonan syndrome 11EnrichmentMRAS1.61
237Naxos diseaseEnrichmentJUP1.61
238Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.61
239Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.61
240Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.61
241Breasts and/or nipples, aplasia or hypoplasia of, 2EnrichmentPTPRF1.61
242Multiple synostoses syndrome 4EnrichmentGDF61.61
243Intellectual developmental disorder, x-linked 110EnrichmentFGF131.61
244Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.61
245Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.61
246Deafness, autosomal dominant 4aEnrichmentMYH141.61
247Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.61
248Cortical dysplasia, complex, with other brain malformations 9EnrichmentCTNNA21.61
249Congenital myopathy 8EnrichmentACTN21.61
250Hyperemesis gravidarumEnrichmentGDF151.61
251Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.61
252Deafness, autosomal recessive 125EnrichmentGAS21.61
253Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticityEnrichmentPTPN231.61
254Hereditary lymphedema idEnrichmentVEGFC1.61
255Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.61
256Osteofibrous dysplasiaEnrichmentMET1.61
257Deafness, autosomal recessive 37EnrichmentMYO61.61
258Microphthalmia, syndromic 6EnrichmentBMP41.61
259Diarrhea 15, congenitalEnrichmentMYO1A1.61
260Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH21.61
261Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.61
262Developmental and epileptic encephalopathy 90EnrichmentFGF131.61
263Orofacial cleft 11EnrichmentBMP41.61
264Metacarpal 4-5 fusionEnrichmentFGF161.61
265Orofacial cleft 7EnrichmentNECTIN11.61
266Lymphatic malformation 4EnrichmentVEGFC1.61
267Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC71.61
268Papillary tumor of the pineal regionEnrichmentPTEN1.61
269Atrial fibrillation, familial, 18EnrichmentMYL41.61
270Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.61
271Familial isolated trichomegalyEnrichmentFGF51.61
272Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.61
273Deafness, autosomal dominant 11EnrichmentMYO7A1.61
274Deafness, autosomal recessive 97EnrichmentMET1.61
275Skin creases, congenital symmetric circumferential, 2EnrichmentMAPRE21.61
276Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.61
277Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.61
278Cardiomyopathy, dilated, 1wEnrichmentVCL1.61
279Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.61
280Camurati-engelmann disease 2EnrichmentTGFB21.61
281Actn3 deficiencyEnrichmentACTN31.61
282Geleophysic dysplasia 3EnrichmentLTBP31.61
283Deafness, autosomal recessive 30EnrichmentMYO3A1.61
284Becker nevus syndromeEnrichmentACTB1.61
285Celiac disease 4EnrichmentMYO9B1.61
286Dystonia-deafness syndrome 1EnrichmentACTB1.61
287Rothmund-thomson syndrome, type 1EnrichmentANAPC11.61
288Autism 9EnrichmentMET1.61
289Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.61
290Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.61
291Cardiomyopathy, familial hypertrophic, 14EnrichmentMYH61.61
292Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH21.61
293Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.61
294Glaucoma 1, open angle, oEnrichmentNTF41.61
295Iron overloadEnrichmentBMP61.61
296Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.61
297Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.61
298Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.61
299Craniosynostosis 3EnrichmentTCF121.61
300Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.61
301Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.61
302Leber congenital amaurosis 17EnrichmentGDF61.61
303Cowden syndrome 6EnrichmentAKT11.61
304Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.61
305Nephrotic syndrome, type 6EnrichmentPTPRO1.61
306Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.61
307Bleeding disorder, platelet-type, 15EnrichmentACTN11.61
308Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH141.61
309Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.61
310Myofibromatosis, infantile, 2EnrichmentNOTCH31.61
311Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.61
312Autosomal dominant familial visceral neuropathyEnrichmentACTG21.61
313Type 1 diabetes mellitus 20EnrichmentHNF1A1.61
314Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.61
315Immunodeficiency 105, severe combinedEnrichmentPTPRC1.61
316Ectodermal dysplasia-syndactyly syndrome 1EnrichmentNECTIN41.61
317Choanal atresia and lymphedemaEnrichmentPTPN141.61
318Focal segmental glomerulosclerosis 6EnrichmentMYO1E1.61
319Glioma susceptibility 2EnrichmentPTEN1.61
320Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF41.61
321Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.61
322Hartsfield syndromeEnrichmentFGFR11.61
323Loeys-dietz syndrome 5EnrichmentTGFB31.61
324Renal hypodysplasia/aplasia 2EnrichmentFGF201.61
32520p12.3 microdeletion syndromeEnrichmentBMP21.61
326Thrombocytopenia 6EnrichmentSRC1.61
327Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.61
328Was-related disordersEnrichmentWAS1.61
329Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.61
330Takenouchi-kosaki syndromeEnrichmentCDC421.61
331Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.61
332Deafness, autosomal dominant 73EnrichmentPTPRQ1.61
333Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.61
334Bartsocas-papas syndrome 2EnrichmentCHUK1.61
335Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.61
336Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.61
337Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN21.61
338Menke-hennekam syndrome 1EnrichmentCREBBP1.61
339Deafness, autosomal dominant 90EnrichmentMYO3A1.61
340Myasthenic syndrome, congenital, 24, presynapticEnrichmentMYO9A1.61
341Developmental and epileptic encephalopathy 47EnrichmentFGF121.61
342Congenital myopathy 14EnrichmentMYL11.61
343Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.61
344Cd45 deficiencyEnrichmentPTPRC1.61
345Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.61
346Premature ovarian failure 14EnrichmentGDF91.61
347Developmental delay with variable intellectual impairment and behavioral abnormalitiesEnrichmentTCF201.61
348Deafness, autosomal dominant 69EnrichmentKITLG1.61
349Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.61
350Attention deficit-hyperactivity disorder 8EnrichmentCDH21.61
351Thrombocytopenia 9EnrichmentTHPO1.61
352Adenoid ameloblastomaEnrichmentCTNNB11.61
353Arthrogryposis, distal, type 11EnrichmentMET1.61
354Baraitser-winter syndromeEnrichmentACTB1.61
355Heritable thoracic aortic diseaseEnrichmentSMAD41.61
356Congenital myopathy 26EnrichmentTUBA4A1.61
357Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.61
358Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.61
359Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.61
360Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.61
361Usher syndrome type 1bEnrichmentMYO7A1.61
362Capillary hemangiomaEnrichmentAKT31.61
363Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.61
364Klippel-feil syndromeEnrichmentMYO18B1.61
365Thrombocytopenia 10EnrichmentPTPRJ1.61
366Transient cerebral ischemiaEnrichmentNOTCH31.61
367Breast lobular carcinomaEnrichmentCDH11.61
368Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A1.61
369Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.61
370Congenital pulmonary airway malformationEnrichmentKRAS1.61
371Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.61
372Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.61
373Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH31.61
374Vegetative pyoderma gangrenosumEnrichmentPTPN61.61
375Bullous pyoderma gangrenosumEnrichmentPTPN61.61
376Zebra body myopathyEnrichmentACTA11.61
377Spinocerebellar ataxia type 27bEnrichmentFGF141.61
378Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.61
379Congenital smooth muscle hamartomaEnrichmentACTB1.61
380Pustular pyoderma gangrenosumEnrichmentPTPN61.61
381Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.61
382Nocarh syndromeEnrichmentCDC421.61
383Congenital primary lymphedema of gordonEnrichmentVEGFC1.61
384Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.61
385Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.61
386Menke-hennekam syndromeEnrichmentCREBBP1.61
387Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.61
388Familial progressive hyperpigmentationEnrichmentKITLG1.61
389Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.61
390Lymphedema-posterior choanal atresia syndromeEnrichmentPTPN141.61
391Medullary sponge kidneyEnrichmentHNF1B1.61
392Phakomatosis pigmentokeratoticaEnrichmentHRAS1.61
393Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.61
394Actin-accumulation myopathyEnrichmentACTA11.61
395Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.61
396Classic pyoderma gangrenosumEnrichmentPTPN61.61
397Renal dysplasia, bilateralEnrichmentHNF1B1.61
398Unilateral multicystic dysplastic kidneyEnrichmentHNF1B1.61
399Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.61
400Renal dysplasia, unilateralEnrichmentHNF1B1.61
401Myopathic intestinal pseudoobstructionEnrichmentACTG21.61
402Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.61
403Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.61
404Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.61
405Interstitial lung disease specific to childhoodEnrichmentFGF101.61
406Serous carcinoma of the corpus uteriEnrichmentERBB21.61
407Neurocutaneous melanocytosisEnrichmentNRAS1.61
408Microcystic stromal tumorEnrichmentCTNNB11.61
409Actg2 visceral myopathyEnrichmentACTG21.61
410Akt2-related familial partial lipodystrophyEnrichmentAKT21.61
411Malignant astrocytomaEnrichmentPTPN111.61
412Hydrops fetalis, nonimmuneEnrichmentACTA1, HRAS, PTPN111.61
413Auditory neuropathyEnrichmentCDH2, MYO7A, NOTCH31.61
414HypochondroplasiaEnrichmentFGFR31.60
415Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.60
416Thanatophoric dysplasia, type iEnrichmentFGFR31.60
417Muenke syndromeEnrichmentFGFR31.60
418Intellectual developmental disorder, x-linked 30EnrichmentPAK31.60
419Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.60
420Type 1 diabetes mellitus 10EnrichmentIL2RA1.60
421Caspase 8 deficiencyEnrichmentCASP81.60
422Leprosy 4EnrichmentLTA1.60
423Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.60
424Mastocytosis, cutaneousEnrichmentKIT1.60
425Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.60
426Apert syndromeEnrichmentFGFR21.60
427Myofibromatosis, infantile, 1EnrichmentPDGFRB1.60
428Thanatophoric dysplasia, type iiEnrichmentFGFR31.60
429Gist-plus syndromeEnrichmentPDGFRA1.60
430Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.60
431Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.60
432Bent bone dysplasia syndrome 1EnrichmentFGFR21.60
433Angioedema, hereditary, 5EnrichmentANGPT11.60
434Developmental and epileptic encephalopathy 58EnrichmentNTRK21.60
435Lymphoproliferative syndrome 3EnrichmentCD701.60
436Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG1.60
437Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL71.60
438Knobloch syndrome 2EnrichmentPAK21.60
439Short syndromeEnrichmentPIK3R11.60
440Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.60
441Ovarian dysgenesis 2EnrichmentBMP151.60
442Graft-versus-host diseaseEnrichmentIL101.60
443Isolated growth hormone deficiency type iiiEnrichmentBTK1.60
444Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.60
445Allergic rhinitisEnrichmentIL131.60
446Nemaline myopathy 7EnrichmentCFL21.60
447Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.60
448Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.60
449Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.60
450Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.60
451Immunodeficiency 29EnrichmentIL12B1.60
452Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.60
453Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.60
454Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.60
455Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.60
456Kosaki overgrowth syndromeEnrichmentPDGFRB1.60
457Congenital heart defects, multiple types, 7EnrichmentFLT41.60
458Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.60
459Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.60
460Chronic mast cell leukemiaEnrichmentKIT1.60
461Tufted angioma of skinEnrichmentKDR1.60
462Immature teratoma of ovaryEnrichmentBMP151.60
463Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.60
464Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP21.60
465Isolated bone marrow mastocytosisEnrichmentKIT1.60
466Smoldering systemic mastocytosisEnrichmentKIT1.60
467Cd40 ligand deficiencyEnrichmentCD40LG1.60
468Fgfr3-related chondrodysplasiaEnrichmentFGFR31.60
469MastocytosisEnrichmentKIT1.60
470Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.60
471Cutaneous mastocytomaEnrichmentKIT1.60
472Typical urticaria pigmentosaEnrichmentKIT1.60
473Nodular urticaria pigmentosaEnrichmentKIT1.60
474Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF121.60
475Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.60
476Telangiectasia macularis eruptiva perstansEnrichmentKIT1.60
477Acute mast cell leukemiaEnrichmentKIT1.60
478Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.60
479Plaque-form urticaria pigmentosaEnrichmentKIT1.60
480Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.60
481Testis seminomaEnrichmentKIT1.60
482Patent foramen ovaleEnrichmentFLNA, FLNC, MYH61.59
483Meningioma, familialEnrichmentPDGFB, PTEN1.55
484Sensorineural hearing lossEnrichmentHGF, MYO15A, MYO3A, MYO7A1.53
485Prostate cancerEnrichmentCDH1, HNF1B, PTEN1.48
486EpicanthusEnrichmentPTPN11, TCF41.48
487Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.46
488Amyloidosis, primary localized cutaneous, 1EnrichmentOSMR1.44
489Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.44
490Boomerang dysplasiaEnrichmentFLNB1.44
491Immune deficiency, familial variableEnrichmentTNFRSF13B1.44
492Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.44
493Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA1.44
494Incontinentia pigmentiEnrichmentIKBKG1.44
495Immunodeficiency 34EnrichmentCYBB1.44
496Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.44
497Otopalatodigital syndrome, type iEnrichmentFLNA1.44
498Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA1.44
499Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.44
500Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL11.44
501Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A1.44
502Carney complex, type 1EnrichmentPRKAR1A1.44
503Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.44
504Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A1.44
505Acromesomelic dysplasia 3EnrichmentBMPR1B1.44
506Immunodeficiency 30EnrichmentIL12RB11.44
507Immunodeficiency 16EnrichmentTNFRSF41.44
508Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.44
509Atelosteogenesis, type iiiEnrichmentFLNB1.44
510Atelosteogenesis, type iEnrichmentFLNB1.44
511Cardiac valvular dysplasia 1EnrichmentPLD11.44
512Polycystic lung diseaseEnrichmentCCR21.44
513Fleck retina, familial benignEnrichmentPLA2G51.44
514Anemia, sideroblastic, 3, pyridoxine-refractoryEnrichmentGLRX51.44
515Brachydactyly, type a1, dEnrichmentBMPR1B1.44
516Whim syndrome 1EnrichmentCXCR41.44
517Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.44
518Craniosynostosis and dental anomaliesEnrichmentIL11RA1.44
519Immunodeficiency 15bEnrichmentIKBKB1.44
520Noonan syndrome 13EnrichmentMAPK11.44
521Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.44
522Immunodeficiency 15aEnrichmentIKBKB1.44
523Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.44
524Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.44
525Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB1.44
526Terminal osseous dysplasiaEnrichmentFLNA1.44
527Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.44
528Okt4 epitope deficiencyEnrichmentCD41.44
529Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.44
530Fg syndrome 2EnrichmentFLNA1.44
531Auriculocondylar syndrome 2aEnrichmentPLCB41.44
532Cardioacrofacial dysplasia 2EnrichmentPRKACB1.44
533Spasticity, childhood-onset, with hyperglycinemiaEnrichmentGLRX51.44
534Myxoma, intracardiacEnrichmentPRKAR1A1.44
535Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.44
536Immunoglobulin a deficiency 2EnrichmentTNFRSF13B1.44
537Psoriasis 7EnrichmentIL23R1.44
538Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.44
539Glucocorticoid deficiency 5EnrichmentTXNRD21.44
540Spinocerebellar ataxia 14EnrichmentPRKCG1.44
541Otopalatodigital syndrome spectrum disorderEnrichmentFLNA1.44
542Immunodeficiency with hyper-igm, type 3EnrichmentCD401.44
543Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.44
544Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.44
545Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.44
546Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB1.44
547Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.44
548Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.44
549Multiple sclerosis 5EnrichmentTNFRSF1A1.44
550Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.44
551Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.44
552Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.44
553Candidiasis, familial, 9EnrichmentIL17RC1.44
554Inflammatory bowel disease 17EnrichmentIL23R1.44
555Type 1 diabetes mellitus 22EnrichmentCCR51.44
556Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.44
557Macular degeneration, age-related, 12EnrichmentCX3CR11.44
558Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.44
559Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.44
560Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G71.44
561PsoriasisEnrichmentIL17RA1.44
562Cardioacrofacial dysplasia 1EnrichmentPRKACA1.44
563Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.44
564Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.44
565X-linked ehlers-danlos syndromeEnrichmentFLNA1.44
566Glaucoma 3, primary congenital, eEnrichmentTEK1.44
567Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.44
568Immunodeficiency 79EnrichmentCD41.44
569TelangiectasisEnrichmentACVRL11.44
570Immunodeficiency 129EnrichmentRHOH1.44
571Auriculocondylar syndrome 2bEnrichmentPLCB41.44
572Whim syndrome 2EnrichmentCXCR21.44
573Csf1r-related disorderEnrichmentCSF1R1.44
574Immunodeficiency 109 with lymphoproliferationEnrichmentTNFRSF91.44
575Bockenheimer syndromeEnrichmentTEK1.44
576T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.44
577Flnb-related disordersEnrichmentFLNB1.44
578Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.44
579Primary pulmonary hypertensionEnrichmentBMPR21.44
580Cerebral cavernous malformations 5EnrichmentMAP3K31.44
581Pulmonary hypertensionEnrichmentBMPR21.44
582Chronic neutrophilic leukemiaEnrichmentCSF3R1.44
583Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR21.44
584Common variable immunodeficiency phenotype due to homozygous taci deficiencyEnrichmentTNFRSF13B1.44
585Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR21.44
586Epilepsy with myoclonic absencesEnrichmentSLC2A11.44
587Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.44
588Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.44
589X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA1.44
590T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R1.44
591Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.44
592Verrucous hemangiomaEnrichmentMAP3K31.44
593Familial benign flecked retinaEnrichmentPLA2G51.44
594Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.44
595Cardiomyopathy, familial hypertrophic, 4EnrichmentMYH7, NCF11.40
596Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.40
597Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.40
598Arteriovenous malformationEnrichmentHRAS, TEK1.40
599Primary biliary cholangitisEnrichmentIL12A, IL12RB11.40
600Familial isolated dilated cardiomyopathyEnrichmentACTN2, MYH6, MYH7, VCL1.40
601Inherited cancer-predisposing syndromeEnrichmentCDH1, CTNNA1, EGFR, MET, PTEN, PTPN11, SMAD41.37
602Rare genetic deafnessEnrichmentACTG1, MYH9, MYO15A, MYO6, MYO7A1.36
603Heart diseaseEnrichmentCREBBP, MYL21.35
604Acromicric dysplasiaEnrichmentLTBP31.32
605Cri-du-chat syndromeEnrichmentSEMA5A1.32
606Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentHNF1B1.32
607Aortic aneurysm, familial thoracic 4EnrichmentMYH111.32
608Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.32
609Renal cysts and diabetes syndromeEnrichmentHNF1B1.32
610Sveinsson chorioretinal atrophyEnrichmentTEAD11.32
611Congenital anomalies of kidney and urinary tract 2EnrichmentHNF1B1.32
612Sorsby fundus dystrophyEnrichmentTIMP31.32
613Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.32
614Myhre syndromeEnrichmentSMAD41.32
615Camurati-engelmann disease 1EnrichmentTGFB11.32
616Arthrogryposis, distal, type 2aEnrichmentMYH31.32
617Costello syndromeEnrichmentHRAS1.32
618TrichomegalyEnrichmentFGF51.32
619Thumb deformityEnrichmentCREBBP1.32
620Kyphomelic dysplasiaEnrichmentCCN21.32
621Neutropenia, severe congenital, x-linkedEnrichmentWAS1.32
622Ebstein anomalyEnrichmentMYH71.32
623Omodysplasia 1EnrichmentGPC61.32
624Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.32
625Pulmonary hypoplasia, primaryEnrichmentFGF101.32
626Cataract 35EnrichmentMYH91.32
627Dermatofibrosarcoma protuberansEnrichmentPDGFB1.32
628Wiskott-aldrich syndromeEnrichmentWAS1.32
629Deafness, autosomal dominant 30EnrichmentMYO3A1.32
630Parkinson disease 8, autosomal dominantEnrichmentGDF61.32
631Aortic aneurysm, familial thoracic 2EnrichmentACTA21.32
632Piebald traitEnrichmentSNAI21.32
633Griscelli syndrome, type 3EnrichmentMYO5A1.32
634Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.32
635Microvascular complications of diabetes 5EnrichmentTGFBR21.32
636Arthrogryposis, distal, type 7EnrichmentMYH81.32
637Deafness, autosomal dominant 20EnrichmentACTG11.32
638Multiple synostoses syndrome 2EnrichmentGDF51.32
639Smooth muscle dysfunction syndromeEnrichmentACTA21.32
640Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.32
641Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.32
642Aortic aneurysm, familial thoracic 6EnrichmentACTA21.32
643Baraitser-winter syndrome 2EnrichmentACTG11.32
644Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentKEAP11.32
645Adams-oliver syndrome 5EnrichmentNOTCH11.32
646Silver-russell syndrome 3EnrichmentIGF21.32
647Osteogenesis imperfecta, type xiiiEnrichmentBMP11.32
648Moyamoya disease 5EnrichmentACTA21.32
649Deafness, autosomal recessive 84aEnrichmentPTPRQ1.32
650Brachydactyly, type a1, cEnrichmentGDF51.32
651Symphalangism, proximal, 1bEnrichmentGDF51.32
652Loeys-dietz syndrome 3EnrichmentSMAD31.32
653Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.32
654Arthrogryposis, distal, type 2b3EnrichmentMYH31.32
655Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.32
656Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG11.32
657Waardenburg syndrome, type 2fEnrichmentKITLG1.32
658Blepharocheilodontic syndrome 2EnrichmentCTNND11.32
659Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.32
660Dystonia 30EnrichmentPTPRA1.32
661Werner syndromeEnrichmentPTPN111.32
662Noonan syndrome 12EnrichmentRRAS21.32
663Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL11.32
664Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.32
665Kowarski syndromeEnrichmentGH11.32
666Infantile myofibromatosisEnrichmentNOTCH31.32
667Atrial septal defect 3EnrichmentMYH61.32
668Hyperuricemic nephropathy, familial juvenile, 3EnrichmentHNF1B1.32
669Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.32
670Senior-loken syndrome 7EnrichmentAKT31.32
671Split hand-foot malformationEnrichmentLEF11.32
672Rosette-forming glioneuronal tumorEnrichmentFGFR11.32
673Lipodystrophy, familial partial, type 1EnrichmentNOTCH31.32
674Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL21.32
675Depressive disorderEnrichmentNOTCH31.32
676Papillary renal cell carcinomaEnrichmentMET1.32
677Camurati-engelmann diseaseEnrichmentTGFB11.32
678Immunodeficiency 104, severe combinedEnrichmentPTPRC1.32
679Microphthalmia/coloboma 6EnrichmentGDF61.32
680Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.32
681Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH21.32
682Pseudosarcomatous fibromatosisEnrichmentMYH91.32
683Immune system diseaseEnrichmentCDC421.32
684Visceral myopathy 2EnrichmentMYH111.32
685Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL21.32
686Bardet-biedl syndrome 16EnrichmentAKT31.32
687Proximal symphalangismEnrichmentGDF51.32
688Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphismEnrichmentMYO18B1.32
689Craniosynostosis 7EnrichmentBMP21.32
690Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.32
691Mitochondrial dna depletion syndrome 15EnrichmentTFAM1.32
692Arthrogryposis, distal, type 1cEnrichmentMYL111.32
693Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.32
694Interfrontal craniofaciosynostosisEnrichmentFGFR11.32
695Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.32
696Multiple benign circumferential skin creases on limbsEnrichmentMAPRE21.32
697Klippel-feil anomaly-myopathy-facial dysmorphism syndromeEnrichmentMYO18B1.32
698Short stature due to growth hormone qualitative anomalyEnrichmentGH11.32
699B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.32
700Vacterl with hydrocephalusEnrichmentPTEN1.32
701Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.32
702HyperinsulinismEnrichmentHNF4A1.32
703Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH21.32
704TeratomaEnrichmentCTNNB11.32
705B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.32
706Juvenile polyposis of infancyEnrichmentPTEN1.32
707Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.32
708Intestinal obstructionEnrichmentACTG21.32
709Wooly hair nevusEnrichmentHRAS1.32
710Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.32
711Carney complex - trismus - pseudocamptodactyly syndromeEnrichmentMYH81.32
712Omenn syndromeEnrichmentIL2RG, IL7R1.31
713Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, TEK1.31
714CakutEnrichmentACTG1, GDF6, HNF1B1.31
715Genetic steroid-resistant nephrotic syndromeEnrichmentACTN4, MYO1E, PTPRO1.31
716Lymphatic malformation 1EnrichmentFLT41.31
717Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.31
718Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.31
719Intracranial hypertension, idiopathicEnrichmentFLT41.31
720Cervical cancerEnrichmentFGFR31.31
721Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.31
722Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.31
723Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.31
724Aural atresia, congenitalEnrichmentFGFR21.31
725Keratosis, seborrheicEnrichmentFGFR31.31
726Angioma, tuftedEnrichmentKDR1.31
727Osteopetrosis, autosomal recessive 2EnrichmentTNFSF111.31
728Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.31
729Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.31
730Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.31
731Agammaglobulinemia, x-linkedEnrichmentBTK1.31
732Intravascular large b-cell lymphomaEnrichmentBCL21.31
733Immunodeficiency 127EnrichmentTNF1.31
734Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.31
735Congenital mesoblastic nephromaEnrichmentNTRK31.31
736Cervix carcinomaEnrichmentFGFR31.31
737FibrosarcomaEnrichmentNTRK31.31
738Hereditary lymphedema iEnrichmentFLT41.31
739Lymphatic malformation 10EnrichmentANGPT21.31
740Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.31
741Chronic eosinophilic leukemiaEnrichmentPDGFRA1.31
742B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.31
743B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.31
744Corpus callosum, agenesis ofEnrichmentCDH2, CREBBP1.30
745Lynch syndromeEnrichmentKRAS, TGFBR21.30
746Isolated corpus callosum agenesisEnrichmentCDH2, CREBBP1.30
747Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, CREBBP1.30
748HydrocephalusEnrichmentFGFR2, PDGFRB1.28
749Left ventricular noncompactionEnrichmentACTN2, MYH7, MYH7B1.28
750Leukemia, acute myeloidEnrichmentJAK2, KIT, KRAS, NRAS1.26
751Wolff-parkinson-white syndromeEnrichmentJUP, MYH71.25
752RhabdomyosarcomaEnrichmentHRAS, PTEN1.25
753Combined immunodeficiencyEnrichmentCD27, IL2RG1.24
754Combined t cell and b cell immunodeficiencyEnrichmentCD27, IL2RG1.24
755Combined t and b cell immunodeficiencyEnrichmentCD27, IL2RG1.24
756Primary ovarian insufficiencyEnrichmentBMP6, IGF2R, KDR, NTRK11.22
757Cardiomyopathy, dilated, 1eEnrichmentMYH7, MYL21.20
758Polycystic liver diseaseEnrichmentCTNNB1, HNF4A1.20
759Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, HNF4A1.20
760Tetralogy of fallotEnrichmentFLNC, FLT4, KDR1.18
761Dandy-walker syndromeEnrichmentPDGFRB, PPP1CB1.18
762Deafness, autosomal recessiveEnrichmentMYH9, MYO15A, MYO7A, PTPRQ1.17
763Restrictive cardiomyopathyEnrichmentFLNC, MYH71.17
764Neuromuscular diseaseEnrichmentACTA1, MYH71.15
765Autosomal recessive nonsyndromic deafnessEnrichmentMYH9, MYO15A, MYO7A, PTPRQ1.15
766Blue rubber bleb nevusEnrichmentTEK1.15
767Familial expansile osteolysisEnrichmentTNFRSF11A1.15
768Scoliosis, isolated 1EnrichmentMAPK71.15
769Fanconi-bickel syndromeEnrichmentSLC2A21.15
770Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.15
771Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.15
772Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A1.15
773Immunodeficiency, common variable, 2EnrichmentTNFRSF13B1.15
774Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA1.15
775Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR21.15
776Otopalatodigital syndrome, type iiEnrichmentFLNA1.15
777Dystonia 9EnrichmentSLC2A11.15
778Melnick-needles syndromeEnrichmentFLNA1.15
779West nile virusEnrichmentCCR51.15
780Immunodeficiency 33EnrichmentIKBKG1.15
781Frontometaphyseal dysplasia 1EnrichmentFLNA1.15
782Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A1.15
783Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.15
784Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.15
785Immunodeficiency with hyper-igm, type 2EnrichmentTNFRSF13B1.15
786Glut1 deficiency syndrome 1EnrichmentSLC2A11.15
787Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD31.15
788Granulomatous disease, chronic, autosomal recessive, 3EnrichmentNCF41.15
789Neutrophilia, hereditaryEnrichmentCSF3R1.15
790Hypouricemia, renal, 2EnrichmentSLC2A91.15
791Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.15
792Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentCYB5R31.15
793Spermatogenic failure 17EnrichmentPLCZ11.15
794Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.15
795Thrombocythemia 3EnrichmentJAK21.15
796Immunodeficiency 51EnrichmentIL17RA1.15
797Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B1.15
798Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentCSF3R1.15
799Albinism, oculocutaneous, type iaEnrichmentNOX41.15
800Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.15
801Lymphatic malformation 11EnrichmentTIE11.15
802Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.15
803Usher syndrome, type ivEnrichmentPRKAR1A1.15
804Pulmonary venoocclusive disease 1EnrichmentBMPR21.15
805Spinocerebellar ataxia 46EnrichmentPLD31.15
806Primary cutaneous amyloidosisEnrichmentOSMR1.15
807Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.15
808Immunodeficiency, common variable, 4EnrichmentTNFRSF13C1.15
809Cardiovascular system diseaseEnrichmentFLNC1.15
810AcrodysostosisEnrichmentPRKAR1A1.15
811Inflammatory bowel disease 28EnrichmentIL10RA1.15
812Severe congenital neutropenia 7EnrichmentCSF3R1.15
813Fibrolamellar carcinomaEnrichmentPRKACA1.15
814Ocular melanomaEnrichmentPLCB41.15
815Multiple sclerosis 3EnrichmentIL7R1.15
816Familial renal hypouricemiaEnrichmentSLC2A91.15
817Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.15
818Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.15
819PolycythemiaEnrichmentJAK21.15
820Hereditary mixed polyposis syndromeEnrichmentBMPR1A1.15
821Intermittent hydrarthrosisEnrichmentTNFRSF1A1.15
822Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.15
823Charcot-marie-tooth disease type 4fEnrichmentPLD31.15
824Hypereosinophilic syndromeEnrichmentJAK21.15
825Pulmonary venoocclusive diseaseEnrichmentBMPR21.15
826Common variable immunodeficiency 12EnrichmentNFKB11.15
827Hereditary methemoglobinemiaEnrichmentCYB5R31.15
828Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.15
829Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR21.15
830Desmoid disease, hereditaryEnrichmentCTNNB11.15
831Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.15
832Juvenile polyposis syndromeEnrichmentSMAD41.15
833Exfoliation syndromeEnrichmentLTBP21.15
834Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.15
835Thrombocythemia 1EnrichmentTHPO1.15
836Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.15
837Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentHNF1B1.15
838Deafness, autosomal recessive 3EnrichmentMYO15A1.15
839Cardiomyopathy, dilated, 1c, with or without left ventricular noncompactionEnrichmentMYH7B1.15
840Muscular dystrophy, duchenne typeEnrichmentLTBP41.15
841Langerhans cell histiocytosisEnrichmentNRAS1.15
842Transposition of the great arteries, dextro-loopedEnrichmentBMP21.15
843Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB11.15
844Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB11.15
845Epidermolysis bullosa, lethal acantholyticEnrichmentJUP1.15
846Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.15
847Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.15
848Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.15
849Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.15
850Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.15
851Chromosome 17q12 deletion syndromeEnrichmentHNF1B1.15
852Anus, imperforateEnrichmentCTNNB11.15
853Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentMYH151.15
854Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.15
855Exudative vitreoretinopathy 7EnrichmentCTNNB11.15
856Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.15
857Weill-marchesani syndrome 1EnrichmentLTBP21.15
858Tethered spinal cord syndromeEnrichmentCREBBP1.15
859Autosomal recessive cutis laxa type iEnrichmentLTBP11.15
860Desmoid tumorEnrichmentCTNNB11.15
861Intrinsic cardiomyopathyEnrichmentACTN21.15
862Isolated growth hormone deficiency, type ibEnrichmentGH11.15
863Migraine without auraEnrichmentNOTCH31.15
864Laryngeal squamous cell carcinomaEnrichmentPTEN1.15
865Butterfly-shaped pigment dystrophyEnrichmentCTNNA11.15
866High bone mass osteogenesis imperfectaEnrichmentBMP11.15
867Qualitative or quantitative defects of beta-myosin heavy chainEnrichmentMYH71.15
868Idiopathic camptocormiaEnrichmentMYH71.15
869Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.15
870Congenital diarrheaEnrichmentMYO1A1.15
871Geleophysic dysplasiaEnrichmentLTBP31.15
872Renal cell carcinomaEnrichmentMET1.15
873Isolated klippel-feil syndromeEnrichmentGDF61.15
874Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.15
875Vogt-koyanagi-harada diseaseEnrichmentPTPN221.15
876AchondroplasiaEnrichmentFGFR31.13
877Thyroid carcinoma, familial medullaryEnrichmentNTRK11.13
878Takayasu arteritisEnrichmentIL12B1.13
879Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.13
880Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.13
881Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.13
882Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.13
883Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.13
884Agammaglobulinemia 1EnrichmentBTK1.13
885High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL21.13
886HamartomaEnrichmentFGFR31.13
887Immunodeficiency 14EnrichmentPIK3R11.13
888T-cell acute lymphoblastic leukemiaEnrichmentBAX1.13
889Immunodeficiency, common variable, 11EnrichmentIL211.13
890Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.13
891Testicular cancerEnrichmentFGFR31.13
892MyopathyEnrichmentACTA1, MYH2, MYH71.13
893Systemic lupus erythematosusEnrichmentIL10, TNF, TNFSF41.13
894Diffuse large b-cell lymphomaEnrichmentCREBBP, PTEN1.11
895Congenital myopathyEnrichmentACTA1, MYH71.11
896Alzheimer's diseaseEnrichmentCSF1R, TNF1.11
897Distal arthrogryposisEnrichmentACTA1, MYH3, MYL111.08
898Complex neurodevelopmental disorderEnrichmentMYH10, PTPN23, RAC3, TCF20, TCF7L2, WASF11.08
899Endometrial cancerEnrichmentCDH1, PTEN1.04
900Kaposi sarcomaEnrichmentIL61.03
901Myopathy, distal, 1EnrichmentMYH71.03
902Isolated growth hormone deficiency, type iiEnrichmentGH11.03
903Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.03
904Klippel-feil syndrome 2, autosomal recessiveEnrichmentMYO18B1.03
905Nemaline myopathy 2EnrichmentACTA11.03
906Congenital myopathy 7b, myosin storage, autosomal recessiveEnrichmentMYH71.03
907Temporal arteritisEnrichmentPTPN221.03
908Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA11.03
909Microtia-anotiaEnrichmentBMP51.03
910Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT31.03
911Pitt-hopkins syndromeEnrichmentTCF41.03
912Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.03
913PilomatrixomaEnrichmentCTNNB11.03
914Congenital myopathy 7a, myosin storage, autosomal dominantEnrichmentMYH71.03
915Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH21.03
916CholangiocarcinomaEnrichmentPTPN31.03
917Barrett esophagusEnrichmentERBB21.03
918Aminoacylase 1 deficiencyEnrichmentACTB1.03
919Alazami syndromeEnrichmentCTNNB11.03
920Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentMYH31.03
921Cardiofaciocutaneous syndromeEnrichmentKRAS1.03
922Lung sarcomatoid carcinomaEnrichmentKRAS1.03
923Weill-marchesani syndromeEnrichmentLTBP21.03
924Hyaline body myopathyEnrichmentMYH71.03
925Cerebrovascular diseaseEnrichmentNOTCH31.03
926CraniopharyngiomaEnrichmentCTNNB11.03
927Noonan syndrome with multiple lentiginesEnrichmentPTPN111.03
928Pilocytic astrocytomaEnrichmentKRAS1.03
929Hereditary elliptocytosisEnrichmentEPB411.03
930Corneal dystrophyEnrichmentZEB11.03
931Epidermolytic nevusEnrichmentHRAS1.03
932Silver-russell syndrome due to a point mutationEnrichmentIGF21.03
933Mitral valve insufficiencyEnrichmentMYH111.03
934Non-syndromic bicoronal craniosynostosisEnrichmentTCF121.03
935Intermediate nemaline myopathyEnrichmentACTA11.03
936Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.03
937Cleft lip and alveolusEnrichmentNECTIN11.03
938Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.03
939Familial sick sinus syndromeEnrichmentMYH61.03
940Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.03
941Centronuclear myopathyEnrichmentACTA1, CFL21.02
942Autosomal recessive osteopetrosisEnrichmentTNFSF111.02
943Knobloch syndromeEnrichmentPAK21.02
944Cerebral malariaEnrichmentTNF1.02
945Inherited epidermodysplasia verruciformisEnrichmentIL71.02
946Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.02
947Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT11.02
948AutismEnrichmentCREBBP, PTPRT, TCF20, TCF7L21.00
949Tooth agenesisEnrichmentFGFR1, TGFA1.00
950Myocardial infarctionEnrichmentLTA, TNFSF40.98
951Prune belly syndromeEnrichmentFLNA0.98
952DysosteosclerosisEnrichmentTNFRSF11A0.98
953Polycythemia veraEnrichmentJAK20.98
954Periventricular nodular heterotopia 1EnrichmentFLNA0.98
955Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R0.98
956Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD10.98
957Severe combined immunodeficiency, x-linkedEnrichmentIL2RG0.98
958Stuve-wiedemann syndrome 1EnrichmentLIFR0.98
959Myopathy, myofibrillar, 5EnrichmentFLNC0.98
960Late-onset retinal degenerationEnrichmentPLA2G50.98
961Combined immunodeficiency, x-linkedEnrichmentIL2RG0.98
962Glut1 deficiency syndrome 2EnrichmentSLC2A10.98
963Hepatitis c virusEnrichmentCCR50.98
964Nasopharyngeal carcinomaEnrichmentNFKBIA0.98
965Nephrotic syndrome, type 3EnrichmentPLCE10.98
966Congenital short bowel syndromeEnrichmentFLNA0.98
967Myopathy, distal, 4EnrichmentFLNC0.98
968Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK20.98
969Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A10.98
970Inflammatory bowel disease 25EnrichmentIL10RB0.98
971Frontometaphyseal dysplasiaEnrichmentFLNA0.98
972Adult-onset myasthenia gravisEnrichmentTNFRSF11A0.98
973Stüve-wiedemann syndromeEnrichmentLIFR0.98
974Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR20.98
975ScoliosisEnrichmentCREBBP, PTPN110.94
976Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB30.93
977Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH30.93
978Exudative vitreoretinopathy 1EnrichmentCTNNB10.93
979Arthrogryposis, distal, type 2b1EnrichmentMYH30.93
980Deafness, autosomal recessive 9EnrichmentMYO15A0.93
981Macrocephaly/autism syndromeEnrichmentPTEN0.93
982Rheumatoid arthritis, systemic juvenileEnrichmentIL60.93
983Atrioventricular septal defectEnrichmentBMP50.93
984Deafness, autosomal recessive 63EnrichmentMYH90.93
985Chondrosarcoma, extraskeletal myxoidEnrichmentTCF120.93
986Chromosome 15q11.2 deletion syndromeEnrichmentTUBG10.93
987Cholangitis, primary sclerosingEnrichmentTCF40.93
988Congenital heart defects, multiple types, 4EnrichmentBMP70.93
989LymphomaEnrichmentPTPN110.93
990Congenital ptosisEnrichmentMYH100.93
991Juvenile glaucomaEnrichmentLTBP20.93
992HemangiomaEnrichmentPTEN0.93
993Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB30.93
994Otof-related hearing lossEnrichmentMYO15A0.93
995Vascular dementiaEnrichmentNOTCH30.93
996Acute megakaryocytic leukemiaEnrichmentPTEN0.93
997Cleft upper lipEnrichmentNECTIN10.93
998Coloboma of choroid and retinaEnrichmentACTG10.93
999Severe congenital nemaline myopathyEnrichmentACTA10.93
1000Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD40.93
1001Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT20.92
1002Knobloch syndrome 1EnrichmentPAK20.92
1003Mosaic variegated aneuploidy syndrome 1EnrichmentPAK60.92
1004Pre-eclampsiaEnrichmentFLT10.92
1005Follicular lymphomaEnrichmentBCL20.92
1006Acute myeloid leukemia with maturationEnrichmentKIT0.92
1007Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentKIT0.92
1008Pancreatic cancerEnrichmentKRAS, SMAD40.91
1009Autism spectrum disorderEnrichmentPTEN, PTPN11, TCF12, TCF20, TCF40.89
1010Heart, malformation ofEnrichmentMAPK1, MYH60.86
1011Erythrocytosis, familial, 1EnrichmentJAK20.86
1012Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentCYB5R30.86
1013Huntington diseaseEnrichmentSLC2A30.86
1014Hemophilia aEnrichmentACVRL10.86
1015Budd-chiari syndromeEnrichmentJAK20.86
1016Paget disease of bone 2, early-onsetEnrichmentTNFRSF11A0.86
1017Auriculocondylar syndrome 1EnrichmentPLCB40.86
1018Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK10.86
1019Immunodeficiency, common variable, 1EnrichmentTNFRSF13B0.86
1020Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A0.86
1021Lymphoproliferative syndrome 2EnrichmentCD270.86
1022Factor viii deficiencyEnrichmentACVRL10.86
1023Developmental and epileptic encephalopathy 12EnrichmentPLCB10.86
1024Cardiomyopathy, familial hypertrophic, 26EnrichmentFLNC0.86
1025Congenital generalized lipodystrophyEnrichmentFOS0.86
1026Hereditary ataxiaEnrichmentPRKCG0.86
1027Hepatitis bEnrichmentIL10RB0.86
1028Congenital myopathy 1aEnrichmentCYB5R30.86
1029Paget's disease of bone 2EnrichmentTNFRSF11A0.86
1030Glaucoma, primary open angleEnrichmentLTBP20.86
1031Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB10.86
1032Weyers acrofacial dysostosisEnrichmentCTNNB10.86
1033Rubinstein-taybi syndrome 1EnrichmentCREBBP0.86
1034Split-hand/foot malformation 1EnrichmentLEF10.86
1035Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.86
1036Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.86
1037Moyamoya disease 1EnrichmentACTA20.86
1038Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO60.86
1039Dental anomalies and short statureEnrichmentLTBP30.86
1040Anterior segment dysgenesis 5EnrichmentBMP40.86
1041Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.86
1042Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP0.86
1043Granulomatosis with polyangiitisEnrichmentPTPN220.86
1044Pain disorderEnrichmentPTPRQ0.86
1045Patent ductus arteriosusEnrichmentPTPN110.86
1046Adrenocortical carcinomaEnrichmentCTNNB10.86
1047Clear cell renal cell carcinomaEnrichmentHNF1A0.86
1048HypertrichosisEnrichmentCREBBP0.86
1049Classic ehlers-danlos syndromeEnrichmentTGFBR10.86
105046,xy disorder of sex developmentEnrichmentFGFR30.85
1051Myeloma, multipleEnrichmentCREBBP, KRAS, TCF30.81
1052Hirschsprung disease 1EnrichmentERBB2, NRG30.80
1053Esophageal cancerEnrichmentTGFBR20.80
1054Meniere diseaseEnrichmentMYO7A0.80
1055Silver-russell syndrome 1EnrichmentIGF20.80
1056MyelofibrosisEnrichmentSRC0.80
1057Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBB2B0.80
1058Capillary malformation-arteriovenous malformation 1EnrichmentKRAS0.80
1059Renal cell carcinoma, papillary, 1EnrichmentMET0.80
1060Adams-oliver syndromeEnrichmentNOTCH10.80
1061MegacolonEnrichmentAKT30.80
1062Childhood-onset nemaline myopathyEnrichmentACTA10.80
1063Hypophosphatemic ricketsEnrichmentFGF230.80
1064Overgrowth syndromeEnrichmentPIK3R10.79
1065Undetermined early-onset epileptic encephalopathyEnrichmentFGF12, LIMK1, NTRK20.78
1066Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.77
1067Heart conduction diseaseEnrichmentFLNC0.77
1068Myeloproliferative neoplasmEnrichmentJAK20.77
1069Histiocytoid hemangiomaEnrichmentFOS0.77
1070Familial glucocorticoid deficiencyEnrichmentTXNRD20.77
1071Long qt syndromeEnrichmentCTNNA3, MYH60.76
1072Glioma susceptibility 1EnrichmentERBB20.75
1073Spastic paraplegia 4, autosomal dominantEnrichmentTCF40.75
1074Isolated growth hormone deficiency, type iaEnrichmentGH10.75
1075Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.75
1076Exudative vitreoretinopathyEnrichmentCTNNB10.75
1077MyocarditisEnrichmentMYH70.75
1078MicrocephalyEnrichmentACTB, ACTG1, CTNNB1, PTPN11, TCF40.74
1079Narcolepsy 1EnrichmentTNFSF40.74
1080Lymphoma, non-hodgkin, familialEnrichmentCASP100.74
1081Lennox-gastaut syndromeEnrichmentMAPK100.74
1082Mosaic variegated aneuploidy syndromeEnrichmentPAK60.74
1083Visceral heterotaxyEnrichmentACVR2B, LEFTY20.72
1084Melanoma, uvealEnrichmentPLCB40.70
1085Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL10.70
1086Orofacial cleft 1EnrichmentFGF100.70
1087Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.70
1088Bilateral perisylvian polymicrogyriaEnrichmentTUBB2B0.70
1089Hypogonadotropic hypogonadismEnrichmentFGFR10.70
1090Congenital central hypoventilation syndromeEnrichmentBDNF0.70
1091Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentMYH70.70
1092Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.70
1093Renal agenesis, bilateralEnrichmentFGF200.70
1094MalariaEnrichmentIKBKG, TNF0.70
1095Rheumatoid arthritisEnrichmentIL100.69
1096West syndromeEnrichmentNTRK2, PLCB1, SLC2A10.67
1097Cat eye syndromeEnrichmentACTG10.66
1098Peters-plus syndromeEnrichmentBMP40.66
1099Stroke, ischemicEnrichmentNOTCH30.66
1100Stickler syndromeEnrichmentBMP40.66
1101PolymicrogyriaEnrichmentAKT30.66
1102MelanomaEnrichmentPTEN0.66
1103Autosomal non-syndromic agammaglobulinemiaEnrichmentTCF30.66
1104Meier-gorlin syndrome 1EnrichmentFGFR20.65
1105Primary bone dysplasiaEnrichmentFGFR30.65
1106Myofibrillar myopathyEnrichmentFLNC0.64
1107Paroxysmal dystoniaEnrichmentSLC2A10.64
1108Migraine with or without aura 1EnrichmentNOTCH30.62
1109Usher syndrome type 2EnrichmentMYO7A0.62
1110Diabetes mellitusEnrichmentHNF1A0.62
1111Uterine corpus cancerEnrichmentPTEN0.62
1112Specific learning disabilityEnrichmentPTPN110.62
1113Presynaptic congenital myasthenic syndromesEnrichmentMYO9A0.62
1114OsteochondrodysplasiaEnrichmentFGFR30.61
1115Fanconi anemia, complementation group cEnrichmentFLNA0.59
1116Severe congenital neutropeniaEnrichmentCSF3R0.59
1117Alternating hemiplegia of childhoodEnrichmentSLC2A10.59
1118Septooptic dysplasiaEnrichmentFGFR10.59
1119Digeorge syndromeEnrichmentHNF1A0.59
1120Congenital hypothyroidismEnrichmentTUBB10.59
1121Cutis laxaEnrichmentLTBP40.59
1122Congenital long qt syndromeEnrichmentPTPN110.59
112346 xx gonadal dysgenesisEnrichmentBMP150.58
1124Aortic valve disease 1EnrichmentNOTCH10.56
1125Microphthalmia/coloboma 12EnrichmentMYH100.56
1126Neural tube defectsEnrichmentPARD30.56
1127Amelogenesis imperfectaEnrichmentLTBP30.56
1128Stereotypic movement disorderEnrichmentTCF40.56
1129Protein-deficiency anemiaEnrichmentNRAS0.56
1130Nk-cell enteropathyEnrichmentPTPRS0.56
1131Tooth agenesis, selective, 1EnrichmentBMPR20.55
1132Nephrotic syndrome, type 1EnrichmentPLCE10.55
1133Charge syndromeEnrichmentTNFRSF1A0.55
1134Coronary heart disease 5EnrichmentIKBKG0.55
1135Leukemia, acute lymphoblastic 3EnrichmentJAK20.55
1136Myoclonic-atonic epilepsyEnrichmentSLC2A10.55
1137Developmental and epileptic encephalopathy 14EnrichmentPLCB10.55
1138Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R0.55
1139Ventricular septal defectEnrichmentTEK0.55
1140Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.53
1141OsteoporosisEnrichmentSRC0.53
1142MedulloblastomaEnrichmentCTNNB10.53
1143Generalized epilepsy with febrile seizures plusEnrichmentFGF130.53
1144Ciliary dyskinesia, primary, 3EnrichmentNFKB10.51
1145Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.51
1146Familial colorectal cancerEnrichmentPLA2G2A0.51
1147Coloboma of maculaEnrichmentMYH100.51
1148Wilms tumor 1EnrichmentIGF20.51
1149Osteogenesis imperfecta, type iiiEnrichmentBMP10.51
1150Usher syndrome, type iEnrichmentMYO7A0.51
1151MyopiaEnrichmentMYH110.51
1152Rare genetic intellectual disabilityEnrichmentCREBBP0.51
1153HypertensionEnrichmentMYH90.49
1154Immune deficiency diseaseEnrichmentCD270.48
1155Frontotemporal dementia 1EnrichmentCSF1R0.48
1156IchthyosisEnrichmentIL2RB0.48
1157Familial colorectal cancer type xEnrichmentBMPR1A0.48
1158Severe combined immunodeficiencyEnrichmentIKBKB, IL7R0.47
1159Body mass index quantitative trait locus 11EnrichmentBDNF, MYH90.46
1160Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL1, TCF40.46
1161Cardiac conduction defectEnrichmentFLNC0.45
1162Beckwith-wiedemann syndromeEnrichmentIGF20.44
1163HypertelorismEnrichmentFGFR2, MYH100.42
1164Acute promyelocytic leukemiaEnrichmentPRKAR1A0.42
1165Macs syndromeEnrichmentGDF60.41
1166Williams-beuren syndromeEnrichmentLIMK10.40
1167Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF8, PTPN110.40
1168Multiple sclerosisEnrichmentTNFRSF1A0.39
1169Periventricular nodular heterotopiaEnrichmentFLNA0.39
1170HepatoblastomaEnrichmentCTNNB10.39
1171Attention deficit-hyperactivity disorderEnrichmentTCF200.38
1172SchizophreniaEnrichmentPTPRM, PTPRT0.37
1173Brittle bone disorderEnrichmentBMP10.36
1174Benign epilepsy with centrotemporal spikesEnrichmentPLCB1, SLC2A10.36
1175Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.35
1176Familial atrial fibrillationEnrichmentMYL40.35
1177Centralopathic epilepsyEnrichmentPLCB1, SLC2A10.33
1178Nephrotic syndromeEnrichmentMYO1E, PLCE10.33
1179Alzheimer disease, familial, 1EnrichmentCSF1R0.33
1180Cleft palate, isolatedEnrichmentFLNA0.33
1181Brugada syndromeEnrichmentSEMA3A0.32
1182Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB1, PTEN0.32
1183Nervous system diseaseEnrichmentCREBBP, CTNNB1, PTEN0.32
1184Charcot-marie-tooth disease type 4EnrichmentPLD30.31
1185StrabismusEnrichmentPTPN110.31
1186Severe covid-19EnrichmentCASP100.28
1187Focal segmental glomerulosclerosisEnrichmentPLCE10.28
1188Long qt syndrome 1EnrichmentPTPN110.28
1189Cardiomyopathy, dilated, 1aEnrichmentFLNC0.27
1190Cystic fibrosisEnrichmentTGFB10.26
1191Peripheral nervous system diseaseEnrichmentNGF0.26
1192NeuropathyEnrichmentNGF0.26
1193Primary autosomal recessive microcephalyEnrichmentANGPT20.25
1194Usher syndromeEnrichmentMYO7A0.25
1195Spastic ataxiaEnrichmentFLNC, PLA2G60.24
1196DystoniaEnrichmentMYO5A0.24
1197Autoinflammatory diseaseEnrichmentTNFRSF1A0.23
1198Fetal akinesia deformation sequence 1EnrichmentACTA10.22
1199Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.22
1200Cerebral palsyEnrichmentPDGFRB0.20
1201Hereditary spastic paraplegiaEnrichmentPTPN230.19
1202Optic atrophy plus syndromeEnrichmentTUBB60.18
1203Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP10.12
1204Primary ciliary dyskinesiaEnrichmentDRC4, PRKAR1B0.12
1205EpilepsyEnrichmentSLC2A10.11
1206Charcot-marie-tooth diseaseEnrichmentPLD30.11
1207Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R0.05
1208Mitochondrial diseaseEnrichmentGFER0.05
1209Leber plus diseaseEnrichmentGDF60.04
1210Hereditary retinal dystrophyEnrichmentCTNNA1, MYO7A, TIMP30.01
1211Fundus dystrophyEnrichmentCTNNA1, MYO7A, TIMP30.01
1212Retinitis pigmentosaEnrichmentMYO7A0.00