TGF-Beta Pathway

Pathway network for the TGF-Beta Pathway SuperPath

Sources:
  • QIAGEN

Pathways in the TGF-Beta Pathway SuperPath

#NameSourceGenes
1TGF-Beta PathwayQIAGEN
(see all 278) (see less)
2JAK-STAT PathwayQIAGEN
(see all 388) (see less)
3MAPK Family PathwayQIAGEN
(see all 353) (see less)
4JNK PathwayQIAGEN
(see all 352) (see less)
5Regulation of eIF4 and p70S6KQIAGEN
6SOCS PathwayQIAGEN

Gene overlap in member pathways for TGF-Beta Pathway SuperPath

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

Disorders associated with TGF-Beta Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.92
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS110.58
4Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CXCL12, IFNG, IL10, IL199.34
5Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR28.25
6Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.35
7Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.35
8Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, RIPK1, TGFB17.17
9Lung non-small cell carcinomaEnrichmentBRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS6.91
10Lung cancer susceptibility 3EnrichmentEGFR, ERBB2, FGF10, KRAS, ROS1, TP536.13
11Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT35.83
12Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS15.82
13Colorectal cancerEnrichmentAKT1, BAX, CDH1, EP300, FGFR2, FGFR3, IGF2, MET, NRAS, PIK3R1, SMAD45.81
14Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSKI, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR25.58
15Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF15.52
16Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.51
17Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS5.24
18Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, MAP4K4, TIMP35.22
19Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR3, KRAS5.19
20Bladder cancerEnrichmentEGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, TP535.15
21Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.07
22Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR25.07
23Type 2 diabetes mellitusEnrichmentHNF1A, HNF1B, HNF4A, IL6, INSR, IRS1, MAPK8IP1, TCF7L24.98
24Ovarian cancerEnrichmentALK, EGFR, ERBB2, HNF1A, HNF1B, KIT, KRAS, MET, NTRK1, PDGFRA, RRAS2, TP534.94
25Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.91
26Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, FOXH1, GAS14.90
27Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, FOXH1, GAS14.90
28Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS, NTRK2, RAF14.83
29Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, FOXH1, GAS14.62
30Marfan syndromeEnrichmentLTBP2, TGFB2, TGFBR1, TGFBR24.48
31Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, ROS1, TP534.26
32Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB34.22
33Arteriovenous malformationEnrichmentEPHB4, HRAS, MAP2K1, TEK4.13
34Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP6, FGF17, FGF8, FGFR1, GNRH14.13
35Differentiated thyroid carcinomaEnrichmentALK, HRAS, KRAS, NRAS, NTRK1, NTRK34.08
36Myeloma, multipleEnrichmentFGFR3, FLT3, IL7R, KRAS, MST1R, PIK3R2, TCF3, TP534.04
37Hepatitis bEnrichmentIFNAR2, IFNGR1, IL10RB4.04
38Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS3.98
39Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS3.98
40Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, MAP2K1, TEK3.92
41Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB93.89
42Behcet syndromeEnrichmentIFNGR1, IL10, IL12A, STAT4, TNFRSF1A3.81
43Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB3.78
44Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, KIT, TP533.73
45Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, FOXH1, GAS13.71
46Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, FOXH1, GAS13.71
47Pulmonic stenosisEnrichmentBRAF, SOS13.67
48Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.67
49Lung cancerEnrichmentALK, BRCA1, EGFR, ERBB2, KRAS, MET3.60
50Kallmann syndromeEnrichmentDUSP6, FGF17, FGF8, FGFR1, SEMA3A3.58
51Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG3.49
52Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB, RIPK1, TGFB13.49
53Multisystem inflammatory syndrome in childrenEnrichmentIFNA21, IFNA4, IFNA6, IFNAR2, IFNB13.48
54Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, FOXH1, GAS13.48
55Nk-cell enteropathyEnrichmentAXL, ERBB4, IGF1R, JAK33.42
56Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB83.41
57Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB83.41
58Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.38
59Pfeiffer syndromeEnrichmentFGFR1, FGFR23.38
60Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.38
61Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.38
62Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.38
63Squamous cell carcinoma, head and neckEnrichmentEGFR, TNFRSF10B, TP533.25
64Gallbladder cancerEnrichmentKRAS, SMAD4, TP533.25
65Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, STAT43.25
66Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, STAT43.25
67Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS3.21
68GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, TP533.20
69Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB33.20
70Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.20
71Lymphatic malformation 1EnrichmentEPHB4, FLT43.17
72Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT43.17
73Cervical cancerEnrichmentFGFR3, TP533.17
74Cervix carcinomaEnrichmentFGFR3, TP533.17
75Hereditary lymphedema iEnrichmentEPHB4, FLT43.17
76Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A, HNF4A3.17
77Angioma, tuftedEnrichmentGNA14, KDR3.17
78Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.17
79Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.17
80Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, KRAS, MAP2K13.13
81Essential thrombocythemiaEnrichmentJAK2, MPL, THPO3.13
82Congenital amegakaryocytic thrombocytopeniaEnrichmentMPL, THPO3.09
83Non-immune hydrops fetalisEnrichmentANGPT2, EPHB4, FLT4, HRAS, KRAS2.95
84Crouzon syndromeEnrichmentFGFR2, FGFR32.91
85SpermatocytomaEnrichmentFGFR3, HRAS2.91
86Diffuse large b-cell lymphomaEnrichmentBTK, SOCS1, STAT32.91
87Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.90
88Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.90
89Ventricular septal defect 1EnrichmentBMP2, BMP72.90
90Gastric cancerEnrichmentBRCA1, ERBB2, FGFR2, IL1B, KRAS, SMAD42.88
91CraniosynostosisEnrichmentFGFR2, FGFR3, TCF12, TCF202.81
92Type 1 diabetes mellitusEnrichmentIL6, INS2.72
93Testicular germ cell cancerEnrichmentFGFR3, KIT2.70
94Chromophobe renal cell carcinomaEnrichmentHNF1A, HNF1B2.70
95Psoriatic arthritisEnrichmentLTA, TNF2.70
96Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R12.70
97Anastomosing haemangiomaEnrichmentGNA11, GNA142.70
98Dyskeratosis congenita, autosomal dominant 6EnrichmentMPL, THPO2.62
99High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC2.62
100Immunodeficiency 44EnrichmentIFNAR2, STAT22.62
101Brachydactyly, type a2EnrichmentBMP2, GDF52.61
102Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, KRAS2.61
103Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.61
104Multiple synostoses syndromeEnrichmentGDF5, GDF62.61
105Aortic aneurysmEnrichmentSMAD3, TGFBR12.61
106AsthmaEnrichmentCCL11, IL13, TNF2.61
107Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB42.51
108Breast adenocarcinomaEnrichmentAKT1, KRAS2.51
109Breast cancerEnrichmentGNG3, HNF1A, IL2, IL7R, JUN, KRAS, TP532.49
110Hemochromatosis, type 1EnrichmentBMP2, BMP62.46
111Permanent neonatal diabetes mellitusEnrichmentINS, STAT32.46
112Leukemia, acute myeloidEnrichmentFLT3, KIT, KRAS, NRAS, TP532.45
113Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK2.41
114Maturity-onset diabetes of the young, type 3EnrichmentHNF1A, HNF4A2.41
115Lung sarcomatoid carcinomaEnrichmentKRAS, TP532.41
116Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.41
117Non-syndromic bicoronal craniosynostosisEnrichmentFGFR3, TCF122.41
118GliomaEnrichmentFGFR2, NTRK32.41
119Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK12.41
120Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.40
121HoloprosencephalyEnrichmentFGF8, FGFR12.40
122Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB32.37
123Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.37
124Overgrowth syndromeEnrichmentMTOR, PIK3R12.37
125Erythrocytosis, familial, 1EnrichmentEPOR, JAK22.33
126Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R22.33
127Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R22.33
128CholangiocarcinomaEnrichmentBRCA1, ROS12.33
129Atrial septal defect 1EnrichmentBMP2, TGFB22.23
130Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.23
131Hemihyperplasia, isolatedEnrichmentIGF2, RHOA2.23
132Holoprosencephaly 1EnrichmentFGF8, FGFR12.23
133Hemangioma, capillary infantileEnrichmentFLT4, KDR2.23
134Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.23
135Renal cell carcinoma, nonpapillaryEnrichmentHNF1A, HNF1B, MET2.20
136Insulin-like growth factor iEnrichmentIGF1, IGF1R2.20
137Fuchs' endothelial dystrophyEnrichmentTCF4, ZEB12.20
138Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.20
139Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.20
140Familial cerebral saccular aneurysmEnrichmentANGPTL6, TGFBR32.19
141Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR22.19
142Junctional epidermolysis bullosaEnrichmentITGA6, ITGB42.14
143Renal agenesis, bilateralEnrichmentFGF20, ITGA82.14
144RhabdomyosarcomaEnrichmentALK, HRAS, TP532.12
145Hereditary hemorrhagic telangiectasiaEnrichmentGDF2, SMAD42.09
146Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB32.05
14746,xy disorder of sex developmentEnrichmentFGFR3, INSR2.03
148Renal tubular dysgenesisEnrichmentAGT, AGTR11.95
149Chronic mucocutaneous candidiasisEnrichmentIL17RC, STAT11.95
150Donohue syndromeEnrichmentINSR1.94
151Spinocerebellar ataxia 27aEnrichmentFGF141.94
152Hypothyroidism, congenital, nongoitrous, 9EnrichmentIRS41.94
153Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.94
154Immunodeficiency 35EnrichmentTYK21.94
155Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.94
156Hypomagnesemia 4, renalEnrichmentEGF1.94
157Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.94
158Dermatitis, atopic, 4EnrichmentSOCS31.94
159Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.94
160Aplasia of lacrimal and salivary glandsEnrichmentFGF101.94
161Angioedema, hereditary, 5EnrichmentANGPT11.94
162Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.94
163Intellectual developmental disorder, x-linked 110EnrichmentFGF131.94
164Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL71.94
165Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.94
166Ovarian dysgenesis 2EnrichmentBMP151.94
167Intellectual developmental disorder, x-linked, syndromic, nascimento typeEnrichmentUBE2A1.94
168Hereditary lymphedema idEnrichmentVEGFC1.94
169Okt4 epitope deficiencyEnrichmentCD41.94
170Graft-versus-host diseaseEnrichmentIL101.94
171Microphthalmia, syndromic 6EnrichmentBMP41.94
172Isolated growth hormone deficiency type iiiEnrichmentBTK1.94
173Developmental and epileptic encephalopathy 90EnrichmentFGF131.94
174Orofacial cleft 11EnrichmentBMP41.94
175T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.94
176Metacarpal 4-5 fusionEnrichmentFGF161.94
177Lymphatic malformation 4EnrichmentVEGFC1.94
178Syndromic x-linked intellectual disability nascimento typeEnrichmentUBE2A1.94
179Allergic rhinitisEnrichmentIL131.94
180Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.94
181Familial isolated trichomegalyEnrichmentFGF51.94
182Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.94
183Microvascular complications of diabetes 1EnrichmentVEGFA1.94
184Multiple synostoses syndrome 3EnrichmentFGF91.94
185Iron overloadEnrichmentBMP61.94
186Immunodeficiency 31aEnrichmentSTAT11.94
187Immunodeficiency 29EnrichmentIL12B1.94
188Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB91.94
189Immunodeficiency 31bEnrichmentSTAT11.94
190Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.94
191Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.94
192Renal hypodysplasia/aplasia 2EnrichmentFGF201.94
193Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.94
19420p12.3 microdeletion syndromeEnrichmentBMP21.94
195Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.94
196Developmental and epileptic encephalopathy 47EnrichmentFGF121.94
197Immunodeficiency 79EnrichmentCD41.94
198Immature teratoma of ovaryEnrichmentBMP151.94
199T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.94
200Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.94
201Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.94
202Spinocerebellar ataxia type 27bEnrichmentFGF141.94
203Congenital primary lymphedema of gordonEnrichmentVEGFC1.94
204Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.94
205Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.94
206Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.94
207Interstitial lung disease specific to childhoodEnrichmentFGF101.94
208Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK1.89
209Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA1.89
210Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK11.89
211B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT3, TP531.89
212Charge syndromeEnrichmentEP300, TNFRSF1A1.86
213Maturity-onset diabetes of the youngEnrichmentHNF1A, HNF1B, HNF4A1.85
214Proteus syndromeEnrichmentAKT11.83
215Oculoectodermal syndromeEnrichmentKRAS1.83
216Pallister-killian syndromeEnrichmentARAF1.83
217Systemic lupus erythematosus 6EnrichmentITGAM1.83
218Noonan syndrome 5EnrichmentRAF11.83
219Noonan syndrome 4EnrichmentSOS11.83
220Spinocerebellar ataxia 12EnrichmentPPP2R2B1.83
221Melorheostosis, isolatedEnrichmentMAP2K11.83
222Noonan syndrome 7EnrichmentBRAF1.83
223Leopard syndrome 3EnrichmentBRAF1.83
224Cardiomyopathy, dilated, 1nnEnrichmentRAF11.83
225Parkinson disease 18, autosomal dominantEnrichmentEIF4G11.83
226Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.83
227Melanosis, neurocutaneousEnrichmentNRAS1.83
228Noonan syndrome 9EnrichmentSOS21.83
229Noonan syndrome 6EnrichmentNRAS1.83
230Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.83
231Noonan syndrome 11EnrichmentMRAS1.83
232Noonan syndrome 13EnrichmentMAPK11.83
233Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.83
234Short syndromeEnrichmentPIK3R11.83
235Houge-janssens syndrome 4EnrichmentPPP2R5C1.83
236Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.83
237Autism 19EnrichmentEIF4E1.83
238Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.83
239Houge-janssens syndrome 2EnrichmentPPP2R1A1.83
240LymphangiomaEnrichmentBRAF1.83
241Phace associationEnrichmentBRAF1.83
242MelorheostosisEnrichmentMAP2K11.83
243Leopard syndrome 2EnrichmentRAF11.83
244Glaucoma 1, open angle, oEnrichmentNTF41.83
245Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A21.83
246Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.83
247Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.83
248Cowden syndrome 6EnrichmentAKT11.83
249Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.83
250TrigonitisEnrichmentRAF11.83
251Amelogenesis imperfecta, type ihEnrichmentITGB61.83
252Congenital pulmonary airway malformationEnrichmentKRAS1.83
253Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.83
254Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.83
255Syringocystadenoma papilliferumEnrichmentBRAF1.83
256GangliogliomaEnrichmentBRAF1.83
257Nongerminomatous germ cell tumorEnrichmentBRAF1.83
258Phace syndromeEnrichmentBRAF1.83
259Phakomatosis pigmentokeratoticaEnrichmentHRAS1.83
260Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.83
261Classic hairy cell leukemiaEnrichmentBRAF1.83
262Neurocutaneous melanocytosisEnrichmentNRAS1.83
263MyelofibrosisEnrichmentJAK2, MPL1.81
264Omenn syndromeEnrichmentIL2RG, IL7R1.77
265Glioma susceptibility 1EnrichmentERBB2, TP531.77
266Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB1.77
267Attention deficit-hyperactivity disorderEnrichmentGNB5, MAP1B, TCF201.73
268Heritable pulmonary arterial hypertensionEnrichmentGDF2, SMAD91.69
269Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.69
270HypochondroplasiaEnrichmentFGFR31.69
271Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.69
272Osteoglophonic dysplasiaEnrichmentFGFR11.69
273Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.69
274Thanatophoric dysplasia, type iEnrichmentFGFR31.69
275Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.69
276Trigonocephaly 1EnrichmentFGFR11.69
277Muenke syndromeEnrichmentFGFR31.69
278Type 1 diabetes mellitus 10EnrichmentIL2RA1.69
279Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP1.69
280Glaucoma 3, primary congenital, dEnrichmentLTBP21.69
281Microphthalmia, isolated 4EnrichmentGDF61.69
282Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.69
283Deafness, autosomal recessive 39EnrichmentHGF1.69
284Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.69
285Apert syndromeEnrichmentFGFR21.69
286Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.69
287Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.69
288Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.69
289Thanatophoric dysplasia, type iiEnrichmentFGFR31.69
290Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI1.69
291Ciliary dyskinesia, primary, 33EnrichmentDRC41.69
292Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.69
293Frontometaphyseal dysplasia 2EnrichmentMAP3K71.69
294Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.69
295Bent bone dysplasia syndrome 1EnrichmentFGFR21.69
296Weill-marchesani syndrome 3EnrichmentLTBP21.69
297Multiple synostoses syndrome 4EnrichmentGDF61.69
298Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB1.69
299Hyperemesis gravidarumEnrichmentGDF151.69
300Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.69
301Deafness, autosomal recessive 125EnrichmentGAS21.69
302Osteofibrous dysplasiaEnrichmentMET1.69
303Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.69
304Deafness, autosomal recessive 97EnrichmentMET1.69
305Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.69
306Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.69
307Camurati-engelmann disease 2EnrichmentTGFB21.69
308Geleophysic dysplasia 3EnrichmentLTBP31.69
309Autism 9EnrichmentMET1.69
310Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.69
311Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.69
312Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB1.69
313Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.69
314Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.69
315Multiple sclerosis 5EnrichmentTNFRSF1A1.69
316Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.69
317Leber congenital amaurosis 17EnrichmentGDF61.69
318Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.69
319Pulmonary hypertension, primary, 2EnrichmentSMAD91.69
320Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.69
321Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.69
322Candidiasis, familial, 9EnrichmentIL17RC1.69
323Loeys-dietz syndrome 6EnrichmentSMAD21.69
324Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.69
325Hartsfield syndromeEnrichmentFGFR11.69
326Congenital heart defects, multiple types, 7EnrichmentFLT41.69
327Loeys-dietz syndrome 5EnrichmentTGFB31.69
328Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.69
329Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.69
330Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.69
331Menke-hennekam syndrome 1EnrichmentCREBBP1.69
332Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.69
333Premature ovarian failure 14EnrichmentGDF91.69
334Tufted angioma of skinEnrichmentKDR1.69
335Deafness, autosomal dominant 69EnrichmentKITLG1.69
336Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.69
337Thrombocytopenia 9EnrichmentTHPO1.69
338Arthrogryposis, distal, type 11EnrichmentMET1.69
339Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.69
340Heritable thoracic aortic diseaseEnrichmentSMAD41.69
341Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.69
342Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.69
343Breast lobular carcinomaEnrichmentCDH11.69
344Fgfr3-related chondrodysplasiaEnrichmentFGFR31.69
345Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.69
346Menke-hennekam syndromeEnrichmentCREBBP1.69
347Familial progressive hyperpigmentationEnrichmentKITLG1.69
348T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R1.69
349Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.69
350Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.69
351Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.69
352MalariaEnrichmentIKBKG, MAPKAPK3, TNF1.68
353Adult hepatocellular carcinomaEnrichmentEGF, TP531.67
354Primary hyperaldosteronismEnrichmentBRAF, GNAS1.67
355Ventricular septal defectEnrichmentBRAF, RPS6KA31.67
356Primary biliary cholangitisEnrichmentIL12A, IL12RB11.67
357Inherited cancer-predisposing syndromeEnrichmentALK, EGFR, KIT, MAP4K2, MET, PDGFRA, SMAD4, TP531.66
358Otodental dysplasiaEnrichmentFGF31.64
359TrichomegalyEnrichmentFGF51.64
360Pulmonary hypoplasia, primaryEnrichmentFGF101.64
361Vexas syndromeEnrichmentUBA11.64
362Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.64
363Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.64
364Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.64
365Osteogenesis imperfecta, type xiiiEnrichmentBMP11.64
366Maturity-onset diabetes of the young, type 10EnrichmentINS1.64
367Thrombocythemia 3EnrichmentJAK21.64
368Immunodeficiency 31cEnrichmentSTAT11.64
369Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB101.64
370HyperproinsulinemiaEnrichmentINS1.64
371Agammaglobulinemia, x-linkedEnrichmentBTK1.64
372Immunodeficiency 121 with autoinflammationEnrichmentPSMB101.64
373Birk-aharoni syndromeEnrichmentPSMC11.64
374Spinal muscular atrophy, x-linked 2EnrichmentUBA11.64
375Intravascular large b-cell lymphomaEnrichmentBCL21.64
376Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.64
377Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.64
378PolycythemiaEnrichmentJAK21.64
379Craniosynostosis 7EnrichmentBMP21.64
380Lymphatic malformation 10EnrichmentANGPT21.64
381Lymphomatoid papulosisEnrichmentTYK21.64
382Hypereosinophilic syndromeEnrichmentJAK21.64
383Oculootodental syndromeEnrichmentFGF31.64
384Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK21.64
385Tooth agenesisEnrichmentFGFR1, SUMO1, TGFA1.62
386Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.62
387MeningiomaEnrichmentAKT1, PDGFB1.62
388Lymphatic malformation 5EnrichmentEPHB41.59
389Brachydactyly, type b1EnrichmentROR21.59
390Erythroleukemia, familialEnrichmentERBB31.59
391Paget disease, extramammaryEnrichmentERBB21.59
392Hepatic adenomas, familialEnrichmentHNF1A1.59
393Intellectual developmental disorder, x-linked 30EnrichmentPAK31.59
394Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.59
395Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.59
396Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.59
397Mastocytosis, cutaneousEnrichmentKIT1.59
398Neuroblastoma 3EnrichmentALK1.59
399Prostate cancer, hereditary, 11EnrichmentHNF1B1.59
400Myofibromatosis, infantile, 1EnrichmentPDGFRB1.59
401Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A1.59
402Lethal congenital contracture syndrome 2EnrichmentERBB31.59
403Fetal encasement syndromeEnrichmentCHUK1.59
404Gist-plus syndromeEnrichmentPDGFRA1.59
405Immunodeficiency 62EnrichmentARHGEF11.59
406Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.59
407Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.59
408Deafness, autosomal recessive 108EnrichmentROR11.59
409Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.59
410Developmental and epileptic encephalopathy 58EnrichmentNTRK21.59
411Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.59
412Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.59
413Knobloch syndrome 2EnrichmentPAK21.59
414Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.59
415Disabling pansclerotic morphea of childhoodEnrichmentSTAT41.59
416Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.59
417Bone marrow failure syndrome 5EnrichmentTP531.59
418Lissencephaly, x-linked, 1EnrichmentDCX1.59
419Papilloma of choroid plexusEnrichmentTP531.59
420Basal cell carcinoma 7EnrichmentTP531.59
421Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.59
422Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.59
423Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.59
424Anaplastic thyroid carcinomaEnrichmentTP531.59
425Systemic lupus erythematosus 11EnrichmentSTAT41.59
426Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.59
427Deafness, autosomal dominant 83EnrichmentMAP1B1.59
428Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.59
429Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.59
430Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.59
431Craniosynostosis 3EnrichmentTCF121.59
432Amyotrophic lateral sclerosis 19EnrichmentERBB41.59
433Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP61.59
434Nasopharyngeal carcinoma 3EnrichmentMST1R1.59
435Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.59
436Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.59
437Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.59
438Type 1 diabetes mellitus 20EnrichmentHNF1A1.59
439Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.59
440Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF41.59
441Ductal carcinoma in situEnrichmentTP531.59
442Kosaki overgrowth syndromeEnrichmentPDGFRB1.59
443Bleeding disorder, platelet-type, 22EnrichmentEPHB21.59
444Takenouchi-kosaki syndromeEnrichmentCDC421.59
445Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.59
446Glaucoma 3, primary congenital, eEnrichmentTEK1.59
447Bartsocas-papas syndrome 2EnrichmentCHUK1.59
448Sick sinus syndrome 4EnrichmentGNB21.59
449Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.59
450Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.59
451Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.59
452Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.59
453Chronic mast cell leukemiaEnrichmentKIT1.59
454Warburg-cinotti syndromeEnrichmentDDR21.59
455Thyroid gland undifferentiated carcinomaEnrichmentTP531.59
456Developmental delay with variable intellectual impairment and behavioral abnormalitiesEnrichmentTCF201.59
457Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.59
458Csf1r-related disorderEnrichmentCSF1R1.59
459Dcx-related disordersEnrichmentDCX1.59
460Bockenheimer syndromeEnrichmentTEK1.59
461Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.59
462Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A1.59
463Isolated bone marrow mastocytosisEnrichmentKIT1.59
464Smoldering systemic mastocytosisEnrichmentKIT1.59
465Choroid plexus cancerEnrichmentTP531.59
466Alk-positive anaplastic large cell lymphomaEnrichmentALK1.59
467Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.59
468Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.59
469Nocarh syndromeEnrichmentCDC421.59
470MastocytosisEnrichmentKIT1.59
471Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.59
472Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.59
473Pleomorphic xanthoastrocytomaEnrichmentTP531.59
474Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.59
475Cutaneous mastocytomaEnrichmentKIT1.59
476Typical urticaria pigmentosaEnrichmentKIT1.59
477Medullary sponge kidneyEnrichmentHNF1B1.59
478Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.59
479Nodular urticaria pigmentosaEnrichmentKIT1.59
480Renal dysplasia, bilateralEnrichmentHNF1B1.59
481Unilateral multicystic dysplastic kidneyEnrichmentHNF1B1.59
482Alk-positive large b-cell lymphomaEnrichmentALK1.59
483Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.59
484Renal dysplasia, unilateralEnrichmentHNF1B1.59
485Telangiectasia macularis eruptiva perstansEnrichmentKIT1.59
486Acute mast cell leukemiaEnrichmentKIT1.59
487Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.59
488Plaque-form urticaria pigmentosaEnrichmentKIT1.59
489Serous carcinoma of the corpus uteriEnrichmentERBB21.59
490Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.59
491Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.59
492Vein of galen aneurysmal malformationEnrichmentEPHB41.59
493Testis seminomaEnrichmentKIT1.59
494Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.58
495Coffin-lowry syndromeEnrichmentRPS6KA31.58
496Incontinentia pigmentiEnrichmentIKBKG1.58
497Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.58
498Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.58
499Pseudohypoparathyroidism, type icEnrichmentGNAS1.58
500Leprosy 4EnrichmentLTA1.58
501Immunodeficiency 30EnrichmentIL12RB11.58
502Osseous heteroplasia, progressiveEnrichmentGNAS1.58
503Craniosynostosis and dental anomaliesEnrichmentIL11RA1.58
504Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.58
505Immunodeficiency 15bEnrichmentIKBKB1.58
506Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.58
507Immunodeficiency 15aEnrichmentIKBKB1.58
508Pituitary adenoma 3, multiple typesEnrichmentGNAS1.58
509Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.58
510Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.58
511Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.58
512Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.58
513Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB11.58
514Hypocalcemia, autosomal dominant 2EnrichmentGNA111.58
515Neurocardiofaciodigital syndromeEnrichmentMAPKAPK51.58
516Disorders of gnas inactivationEnrichmentGNAS1.58
517Macular dystrophy, patterned, 3EnrichmentMAPKAPK31.58
518Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.58
519Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.58
520Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.58
521Immunodeficiency 112EnrichmentMAP3K141.58
522Cerebral cavernous malformations 5EnrichmentMAP3K31.58
523Monostotic fibrous dysplasiaEnrichmentGNAS1.58
524Phakomatosis cesiomarmorataEnrichmentGNA111.58
525Verrucous hemangiomaEnrichmentMAP3K31.58
526Kaposiform hemangioendotheliomaEnrichmentGNA141.58
527Mazabraud syndromeEnrichmentGNAS1.58
528Nik deficiencyEnrichmentMAP3K141.58
529Pancreatic cancerEnrichmentKRAS, SMAD4, TP531.58
530Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R1, TCF31.58
531Primary ovarian insufficiencyEnrichmentBMP6, JAK2, KDR, NTRK1, PRLR1.58
532Connective tissue diseaseEnrichmentFGFR3, SMAD3, TGFBR21.56
533Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.54
534Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.54
535Helicobacter pylori infectionEnrichmentIFNGR11.54
536Thrombocythemia 2EnrichmentMPL1.54
537Prothrombin deficiency, congenitalEnrichmentF21.54
538Amegakaryocytic thrombocytopenia, congenital, 1EnrichmentMPL1.54
539Multiple fibroadenomas of the breastEnrichmentPRLR1.54
540Microvascular complications of diabetes 2EnrichmentEPO1.54
541Whim syndrome 1EnrichmentCXCR41.54
542Immunodeficiency 27aEnrichmentIFNGR11.54
543Immunodeficiency 69EnrichmentIFNG1.54
544Pseudo-torch syndrome 3EnrichmentSTAT21.54
545Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.54
546Intellectual developmental disorder, autosomal recessive 58EnrichmentELP21.54
547Immunodeficiency 106 viral infectionsEnrichmentIFNAR11.54
548Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.54
549Orofacial cleft 10EnrichmentSUMO11.54
550Laron syndromeEnrichmentGHR1.54
551Infant-type hemispheric gliomaEnrichmentBRCA11.54
552HyperprolactinemiaEnrichmentPRLR1.54
553Growth hormone insensitivity, partialEnrichmentGHR1.54
554Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.54
555Immunodeficiency 27bEnrichmentIFNGR11.54
556Meier-gorlin syndrome 8EnrichmentMCM51.54
557Pregnancy loss, recurrent 2EnrichmentF21.54
558Erythrocytosis, familial, 5EnrichmentEPO1.54
559Immunodeficiency 65 viral infectionsEnrichmentIRF91.54
560Capillary hemangiomaEnrichmentAKT31.54
561Familial hyperprolactinemiaEnrichmentPRLR1.54
562Prothrombin deficiencyEnrichmentF21.54
563Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR21.54
564Primary peritoneal carcinomaEnrichmentBRCA11.54
565Akt2-related familial partial lipodystrophyEnrichmentAKT21.54
566Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR1.54
567Hydrops fetalis, nonimmuneEnrichmentEPHB4, FLT4, HRAS1.54
568Leukocyte adhesion deficiency, type iEnrichmentITGB21.54
569Fibromatosis, gingival, 1EnrichmentSOS11.54
570Scoliosis, isolated 1EnrichmentMAPK71.54
571Costello syndromeEnrichmentHRAS1.54
572Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.54
573Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.54
574Houge-janssens syndrome 1EnrichmentPPP2R5D1.54
575Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.54
576Noonan syndrome 12EnrichmentRRAS21.54
577Cebalid syndromeEnrichmentMTOR1.54
578Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.54
579Smith-kingsmore syndromeEnrichmentMTOR1.54
580Houge-janssens syndrome 3EnrichmentPPP2CA1.54
581Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.54
582Tafro syndromeEnrichmentMAP2K21.54
583Wooly hair nevusEnrichmentHRAS1.54
584PolymicrogyriaEnrichmentAKT3, PSMC31.50
585Leukemia, acute lymphoblasticEnrichmentFLT3, GNB11.50
586Myelodysplastic syndromeEnrichmentGNB1, TP531.50
587Specific learning disabilityEnrichmentMAPK1, RPS6KA31.50
588Cleft lip/palateEnrichmentBMP4, CDH11.49
589Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.47
590Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.47
591Type 1 diabetes mellitus 2EnrichmentINS1.47
592Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.47
593Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.47
594Immune thrombocytopeniaEnrichmentSOCS11.47
595Takayasu arteritisEnrichmentIL12B1.47
596Polycythemia veraEnrichmentJAK21.47
597Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.47
598Transposition of the great arteries, dextro-loopedEnrichmentBMP21.47
599Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.47
600Agammaglobulinemia 1EnrichmentBTK1.47
601Bacteremia 2EnrichmentCISH1.47
602Hyper ige syndromeEnrichmentSTAT31.47
603T-cell acute lymphoblastic leukemiaEnrichmentBAX1.47
604High bone mass osteogenesis imperfectaEnrichmentBMP11.47
605Thyroid hemiagenesisEnrichmentPSMD31.47
606Lynch syndromeEnrichmentKRAS, TGFBR21.43
607Rare genetic intellectual disabilityEnrichmentCREBBP, EP3001.43
608Hirschsprung disease 1EnrichmentERBB2, ERBB3, NRG31.41
609Prostate cancerEnrichmentEPHB2, HNF1B, TP531.41
610Acromicric dysplasiaEnrichmentLTBP31.39
611Cri-du-chat syndromeEnrichmentSEMA5A1.39
612Blepharocheilodontic syndrome 1EnrichmentCDH11.39
613Sorsby fundus dystrophyEnrichmentTIMP31.39
614Myhre syndromeEnrichmentSMAD41.39
615Camurati-engelmann disease 1EnrichmentTGFB11.39
616Chylomicron retention diseaseEnrichmentSAR1B1.39
617Thumb deformityEnrichmentCREBBP1.39
618Kyphomelic dysplasiaEnrichmentCCN21.39
619Omodysplasia 1EnrichmentGPC61.39
620Dermatofibrosarcoma protuberansEnrichmentPDGFB1.39
621Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.39
622Parkinson disease 8, autosomal dominantEnrichmentGDF61.39
623Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.39
624Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.39
625Microvascular complications of diabetes 5EnrichmentTGFBR21.39
626Aural atresia, congenitalEnrichmentFGFR21.39
627Keratosis, seborrheicEnrichmentFGFR31.39
628Multiple synostoses syndrome 2EnrichmentGDF51.39
629Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.39
630Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.39
631Silver-russell syndrome 3EnrichmentIGF21.39
632Brachydactyly, type a1, cEnrichmentGDF51.39
633Symphalangism, proximal, 1bEnrichmentGDF51.39
634Loeys-dietz syndrome 3EnrichmentSMAD31.39
635Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.39
636Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.39
637Waardenburg syndrome, type 2fEnrichmentKITLG1.39
638Menke-hennekam syndrome 2EnrichmentEP3001.39
639Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.39
640Kowarski syndromeEnrichmentGH11.39
641Childhood hepatocellular carcinomaEnrichmentMET1.39
642Immunodeficiency, common variable, 4EnrichmentTNFRSF13C1.39
643Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.39
644Split hand-foot malformationEnrichmentFGFR21.39
645Rosette-forming glioneuronal tumorEnrichmentFGFR11.39
646Papillary renal cell carcinomaEnrichmentMET1.39
647Camurati-engelmann diseaseEnrichmentTGFB11.39
648Inflammatory bowel disease 28EnrichmentIL10RA1.39
649Immunodeficiency 104, severe combinedEnrichmentIL7R1.39
650Microphthalmia/coloboma 6EnrichmentGDF61.39
651Multiple sclerosis 3EnrichmentIL7R1.39
652Proximal symphalangismEnrichmentGDF51.39
653Interfrontal craniofaciosynostosisEnrichmentFGFR11.39
654Intermittent hydrarthrosisEnrichmentTNFRSF1A1.39
655Short stature due to growth hormone qualitative anomalyEnrichmentGH11.39
656Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.39
657Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.39
658Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.39
659Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.39
660Ataxia-telangiectasiaEnrichmentBRAF1.36
661Nuchal bleb, familialEnrichmentSOS11.36
662Heparin cofactor ii deficiencyEnrichmentEIF4G31.36
663Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.36
664Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.36
665Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.36
666Tethered spinal cord syndromeEnrichmentBRAF1.36
667Immunodeficiency 14EnrichmentPIK3R11.36
668Bleeding disorder, platelet-type, 24EnrichmentITGB31.36
669Alopecia - intellectual disability syndromeEnrichmentITGB61.36
670Kaposi sarcomaEnrichmentIL61.35
671Anemia, autoimmune hemolyticEnrichmentSOCS11.35
672Budd-chiari syndromeEnrichmentJAK21.35
673Microtia-anotiaEnrichmentBMP51.35
674Neonatal diabetes mellitusEnrichmentINS1.35
675TuberculosisEnrichmentCISH1.35
676Adenosine deaminase deficiencyEnrichmentJAK31.35
677Inherited epidermodysplasia verruciformisEnrichmentIL71.35
678Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.35
679Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT11.35
680Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentHNF1B1.29
681Blue rubber bleb nevusEnrichmentTEK1.29
682Renal cysts and diabetes syndromeEnrichmentHNF1B1.29
683Sveinsson chorioretinal atrophyEnrichmentTEAD11.29
684Congenital anomalies of kidney and urinary tract 2EnrichmentHNF1B1.29
685Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.29
686Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.29
687Adrenocortical carcinoma, hereditaryEnrichmentTP531.29
688Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.29
689Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.29
690Piebald traitEnrichmentKIT1.29
691Night blindness, congenital stationary, type 1hEnrichmentGNB31.29
692Lymphoma, hodgkin, classicEnrichmentTP531.29
693Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.29
694Lymphatic malformation 11EnrichmentTIE11.29
695Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.29
696Neurodevelopmental disorder with or without variable brain abnormalitiesEnrichmentMAPK8IP31.29
697Infantile myofibromatosisEnrichmentPDGFRB1.29
698Hyperuricemic nephropathy, familial juvenile, 3EnrichmentHNF1B1.29
699Periventricular nodular heterotopia 9EnrichmentMAP1B1.29
700Congenital mesoblastic nephromaEnrichmentNTRK31.29
701Congenital fibrosarcomaEnrichmentTP531.29
702Li-fraumeni syndrome 1EnrichmentTP531.29
703SarcomaEnrichmentTP531.29
704Immune system diseaseEnrichmentCDC421.29
705Hodgkin's lymphomaEnrichmentTP531.29
706FibrosarcomaEnrichmentNTRK31.29
707Retinitis pigmentosa 38EnrichmentMERTK1.29
708Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.29
709Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.29
710Acute myeloid leukemia without maturationEnrichmentFLT31.29
711Mitochondrial dna depletion syndrome 15EnrichmentTFAM1.29
712B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.29
713Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.29
714Chronic eosinophilic leukemiaEnrichmentPDGFRA1.29
715HyperinsulinismEnrichmentHNF4A1.29
716B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.29
717Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.29
718B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.29
719B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.29
720Pleomorphic rhabdomyosarcomaEnrichmentTP531.29
721Cerebral visual impairmentEnrichmentGNB11.29
722Pseudohypoparathyroidism, type iaEnrichmentGNAS1.29
723Cutis marmorata telangiectatica congenitaEnrichmentGNA111.29
724Immunodeficiency 33EnrichmentIKBKG1.29
725Histiocytoma, angiomatoid fibrousEnrichmentCREB11.29
726Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.29
727PseudopseudohypoparathyroidismEnrichmentGNAS1.29
728Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.29
729Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB11.29
730Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.29
731Immunodeficiency 127EnrichmentTNF1.29
732Autosomal dominant hypocalcemiaEnrichmentGNA111.29
733PseudohypoparathyroidismEnrichmentGNAS1.29
734Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.29
735Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.29
736Common variable immunodeficiency 12EnrichmentNFKB11.29
737Phakomatosis cesioflammeaEnrichmentGNA111.29
738Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B1.29
739Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT21.25
740Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.25
741Rheumatoid arthritis, systemic juvenileEnrichmentIL61.25
742Atrioventricular septal defectEnrichmentBMP51.25
743Congenital heart defects, multiple types, 4EnrichmentBMP71.25
744Follicular lymphomaEnrichmentBCL21.25
745Myeloproliferative neoplasmEnrichmentJAK21.25
746Burkitt lymphomaEnrichmentMYC1.25
747Hemangiopericytoma, malignantEnrichmentSTAT61.25
748Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.25
749Immunodeficiency 45EnrichmentIFNAR21.25
750Growth hormone deficiency, isolated partialEnrichmentGHR1.25
751Diamond-blackfan anemia-likeEnrichmentEPO1.25
752Fanconi anemia, complementation group sEnrichmentBRCA11.25
753Pancreatic cancer 4EnrichmentBRCA11.25
754Senior-loken syndrome 7EnrichmentAKT31.25
755Bardet-biedl syndrome 16EnrichmentAKT31.25
756Inflammatory breast carcinomaEnrichmentBRCA11.25
757Peritoneum cancerEnrichmentBRCA11.25
758Bilateral breast cancerEnrichmentBRCA11.25
759Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.25
760Submucosal cleft palateEnrichmentUBB1.25
761Cleft hard palateEnrichmentUBB1.25
762HydrocephalusEnrichmentFGFR2, PDGFRB1.25
763Wilms tumor 1EnrichmentBRAF, IGF21.25
764CakutEnrichmentGDF6, HNF1B, LIFR1.24
765Amelogenesis imperfecta, type iiiaEnrichmentITGB61.24
766Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.24
767Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.24
768Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.24
769Focal cortical dysplasia, type iiEnrichmentMTOR1.24
770Retinitis pigmentosa 26EnrichmentITGA41.24
771CraniopharyngiomaEnrichmentBRAF1.24
772Pilocytic astrocytomaEnrichmentKRAS1.24
773Newborn respiratory distress syndromeEnrichmentBRAF1.24
774Epidermolytic nevusEnrichmentHRAS1.24
775Isolated focal cortical dysplasia type iiEnrichmentMTOR1.24
776Gingival fibromatosisEnrichmentSOS11.24
777Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.24
778Brachydactyly, type a1EnrichmentGDF51.22
779AchondroplasiaEnrichmentFGFR31.22
780Brachydactyly, type cEnrichmentGDF51.22
781Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.22
782Larsen syndromeEnrichmentFGFR31.22
783Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.22
784Juvenile polyposis syndromeEnrichmentSMAD41.22
785Exfoliation syndromeEnrichmentLTBP21.22
786Acromesomelic dysplasia 2aEnrichmentGDF51.22
787Thrombocythemia 1EnrichmentTHPO1.22
788Acromesomelic dysplasia 2cEnrichmentGDF51.22
789Acromesomelic dysplasia 2bEnrichmentGDF51.22
790Mycosis fungoidesEnrichmentTNFRSF1B1.22
791Severe combined immunodeficiency, x-linkedEnrichmentIL2RG1.22
792Muscular dystrophy, duchenne typeEnrichmentLTBP41.22
793Combined immunodeficiency, x-linkedEnrichmentIL2RG1.22
794Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.22
795Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.22
796Weill-marchesani syndrome 1EnrichmentLTBP21.22
797Autosomal recessive cutis laxa type iEnrichmentLTBP11.22
798Isolated growth hormone deficiency, type ibEnrichmentGH11.22
799HamartomaEnrichmentFGFR31.22
800Inflammatory bowel disease 25EnrichmentIL10RB1.22
801Frontometaphyseal dysplasiaEnrichmentMAP3K71.22
802Intraocular pressure quantitative trait locusEnrichmentCREBBP1.22
803Laryngeal squamous cell carcinomaEnrichmentTNFRSF10B1.22
804Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.22
805Geleophysic dysplasiaEnrichmentLTBP31.22
806Renal cell carcinomaEnrichmentMET1.22
807Testicular cancerEnrichmentFGFR31.22
808Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentSMAD91.22
809Isolated klippel-feil syndromeEnrichmentGDF61.22
810Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.22
811Saczary syndromeEnrichmentTNFRSF1B1.22
812Hereditary breast carcinomaEnrichmentAKT1, CDH1, KRAS1.21
813Developmental dysplasia of the hip 1EnrichmentPSMC31.18
814Anterior segment dysgenesis 5EnrichmentBMP41.18
815Patent ductus arteriosusEnrichmentPSMC31.18
816Endometrial cancerEnrichmentCDH1, FGFR21.17
817Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.15
818Glanzmann thrombasthenia 2EnrichmentITGB31.15
819Epidermolysis bullosaEnrichmentITGA61.15
820Aplasia cutis congenitaEnrichmentITGB41.15
821HemimegalencephalyEnrichmentMTOR1.15
822Systemic lupus erythematosusEnrichmentIL10, SOCS11.14
823Thyroid carcinoma, familial medullaryEnrichmentNTRK11.12
824Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.12
825Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentHNF1B1.12
826Band heterotopiaEnrichmentDCX1.12
827Stuve-wiedemann syndrome 1EnrichmentLIFR1.12
828Osteogenic sarcomaEnrichmentTP531.12
829Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB11.12
830Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB11.12
831Nasopharyngeal carcinomaEnrichmentTP531.12
832Chromosome 5q14.3 deletion syndrome, distalEnrichmentMAP1B1.12
833Chromosome 17q12 deletion syndromeEnrichmentHNF1B1.12
834Anus, imperforateEnrichmentMAP4K41.12
835Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.12
836Primary polycythemiaEnrichmentEPOR1.12
837Bronchopulmonary dysplasiaEnrichmentMUSK1.12
838Lymphatic malformation 7EnrichmentEPHB41.12
839Atypical teratoid rhabdoid tumorEnrichmentTP531.12
840Anaplastic astrocytomaEnrichmentTP531.12
841Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.12
842Pyloric stenosisEnrichmentMAP1B1.12
843Squamous cell carcinomaEnrichmentTP531.12
844AdenocarcinomaEnrichmentTP531.12
845Bone osteosarcomaEnrichmentTP531.12
846Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.12
847Mixed phenotype acute leukemia with tEnrichmentFLT31.12
848Stüve-wiedemann syndromeEnrichmentLIFR1.12
849Mccune-albright syndromeEnrichmentGNAS1.12
850Migraine without auraEnrichmentTNF1.12
851Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.12
852Melanoma of soft tissueEnrichmentCREB11.12
853Hypophosphatemic ricketsEnrichmentFGF231.11
854Isolated growth hormone deficiency, type iiEnrichmentGH11.10
855Lymphoproliferative syndrome 2EnrichmentXIAP1.10
856Congenital generalized lipodystrophyEnrichmentFOS1.10
857Weill-marchesani syndromeEnrichmentLTBP21.10
858Silver-russell syndrome due to a point mutationEnrichmentIGF21.10
859Tuberous sclerosis 1EnrichmentIFNG1.08
860Uvula, bifidEnrichmentUBB1.08
861Cleft soft palateEnrichmentUBB1.08
862Hepatitis c virusEnrichmentIFNG1.08
863Tuberous sclerosis 2EnrichmentIFNG1.08
864Immunodeficiency 28EnrichmentIFNGR21.08
865Cerebral sinovenous thrombosisEnrichmentF21.08
866Hypertension, essentialEnrichmentAGT, AGTR11.08
867Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB41.07
868Wilms tumor 5EnrichmentBRAF1.07
869Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB41.07
870Autoinflammatory diseaseEnrichmentTNFRSF1A, XIAP1.07
871Orofacial cleft 1EnrichmentFGF101.01
872Rheumatoid arthritisEnrichmentIL101.01
873Inflammatory bowel disease 1EnrichmentIL61.01
874Leukemia, acute lymphoblastic 3EnrichmentJAK21.01
875Renal cell carcinoma, papillary, 1EnrichmentMTOR1.01
876Epidermolysis bullosa simplexEnrichmentITGB41.01
877Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.01
878Goldberg-shprintzen syndromeEnrichmentSKI1.01
879Rubinstein-taybi syndrome 2EnrichmentEP3001.01
880Pre-eclampsiaEnrichmentFLT11.01
881Juvenile glaucomaEnrichmentLTBP21.01
882Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.01
883Histiocytoid hemangiomaEnrichmentFOS1.01
884Diffuse cutaneous systemic sclerosisEnrichmentCCN21.01
885Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RB1.01
886Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.01
887FucosidosisEnrichmentDCX1.00
888Small cell cancer of the lungEnrichmentTP531.00
889Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.00
890Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.00
891Pitt-hopkins syndromeEnrichmentTCF41.00
892Barrett esophagusEnrichmentERBB21.00
893Chronic myelomonocytic leukemiaEnrichmentFLT31.00
894Embryonal rhabdomyosarcomaEnrichmentTP531.00
895Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.00
896Corneal dystrophyEnrichmentZEB11.00
897Knobloch syndromeEnrichmentPAK21.00
898Pediatric systemic lupus erythematosusEnrichmentSTAT41.00
899Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.00
900Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.00
901Familial sick sinus syndromeEnrichmentGNB21.00
902Pseudohypoparathyroidism, type ibEnrichmentGNAS1.00
903Cerebral malariaEnrichmentTNF1.00
904HepatoblastomaEnrichmentFGFR3, TP530.99
905Complex neurodevelopmental disorderEnrichmentGNB2, MAPK8IP3, PAK3, RAC3, TCF20, TCF7L20.98
906Peters-plus syndromeEnrichmentBMP40.96
907Stickler syndromeEnrichmentBMP40.96
908Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA10.96
909Hepatocellular carcinomaEnrichmentMET, TP530.96
910Renal hypodysplasia/aplasia 1EnrichmentITGA80.95
911Lymphoma, non-hodgkin, familialEnrichmentBRAF0.95
912Lennox-gastaut syndromeEnrichmentMAPK100.95
913Glaucoma, primary open angleEnrichmentLTBP20.93
914Cowden syndrome 1EnrichmentEGFR0.93
915Split-hand/foot malformation 1EnrichmentFGFR20.93
916Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.93
917Dental anomalies and short statureEnrichmentLTBP30.93
918Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.93
919Limited sclerodermaEnrichmentCCN20.93
920HypertrichosisEnrichmentCREBBP0.93
921Classic ehlers-danlos syndromeEnrichmentTGFBR10.93
922Cleft lip with or without cleft palateEnrichmentCDH10.93
923Diabetes mellitusEnrichmentINS0.93
924Cataract 6, multiple typesEnrichmentEPHA20.91
925Robinow syndrome, autosomal recessive 1EnrichmentROR20.91
926Rhabdomyosarcoma 2EnrichmentTP530.91
927Knobloch syndrome 1EnrichmentPAK20.91
928Mosaic variegated aneuploidy syndrome 1EnrichmentPAK60.91
929Chondrosarcoma, extraskeletal myxoidEnrichmentTCF120.91
930Cholangitis, primary sclerosingEnrichmentTCF40.91
931LymphomaEnrichmentTP530.91
932Acute megakaryocytic leukemiaEnrichmentTP530.91
933AniridiaEnrichmentEPHA20.91
934Capillary malformations, congenitalEnrichmentGNA110.91
935Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB10.91
936Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.91
937Vascular dementiaEnrichmentTNF0.91
938Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.90
939Cowden syndromeEnrichmentAKT10.90
94046 xx gonadal dysgenesisEnrichmentBMP150.89
941Esophageal cancerEnrichmentTGFBR20.87
942Silver-russell syndrome 1EnrichmentIGF20.87
943Waardenburg syndrome, type 2eEnrichmentKITLG0.87
944Breast-ovarian cancer, familial 2EnrichmentBRCA10.87
945Idiopathic aplastic anemiaEnrichmentIFNG0.87
946Amelogenesis imperfecta, type ieEnrichmentITGB60.86
947MelanomaEnrichmentBRAF0.86
948Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT3, MYC0.86
949Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB4, GNB1, TCF40.85
950Li-fraumeni syndromeEnrichmentTP530.84
951Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB10.84
952Inflammatory myofibroblastic tumorEnrichmentALK0.84
953Autosomal recessive robinow syndromeEnrichmentROR20.84
954Adrenocortical carcinomaEnrichmentTP530.84
955Clear cell renal cell carcinomaEnrichmentHNF1A0.84
956Melanoma, uvealEnrichmentGNA110.83
957Generalized epilepsy with febrile seizures plusEnrichmentFGF130.83
958Arthrogryposis, distal, type 1aEnrichmentMET0.82
959Isolated growth hormone deficiency, type iaEnrichmentGH10.82
960Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.82
961Autism spectrum disorderEnrichmentGNB1, MAP1B, TCF12, TCF20, TCF40.81
962ThrombocytopeniaEnrichmentITGA2B, ITGB30.81
963Osteogenesis imperfecta, type iiiEnrichmentBMP10.80
964Autosomal dominant secondary polycythemiaEnrichmentEPO0.80
965Multiple endocrine neoplasia, type iEnrichmentMAP4K20.77
966BrachydactylyEnrichmentGNAS0.77
967Common variable immunodeficiencyEnrichmentNFKB10.77
968Hypogonadotropic hypogonadismEnrichmentFGFR10.77
969Congenital central hypoventilation syndromeEnrichmentBDNF0.77
970Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.77
971Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.77
972Hereditary breast ovarian cancer syndromeEnrichmentKRAS, RIPK1, TP530.77
973Aortic valve disease 1EnrichmentSOS10.76
974Neural tube defectsEnrichmentITGB10.76
975Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.76
976Protein-deficiency anemiaEnrichmentNRAS0.76
977Thrombophilia due to thrombin defectEnrichmentF20.74
978MegacolonEnrichmentAKT30.74
979Patent foramen ovaleEnrichmentPSMC30.73
980Multiple sclerosisEnrichmentITGB40.73
98146,xy partial gonadal dysgenesisEnrichmentSOS10.73
982Isolated macular dystrophyEnrichmentITGA40.73
983Meier-gorlin syndrome 1EnrichmentFGFR20.73
984Primary bone dysplasiaEnrichmentFGFR30.73
985Spastic paraplegia 4, autosomal dominantEnrichmentTCF40.72
986Mosaic variegated aneuploidy syndromeEnrichmentPAK60.72
987HypothyroidismEnrichmentGNB10.72
988NeuroblastomaEnrichmentALK0.72
989Early-onset posterior polar cataractEnrichmentEPHA20.72
990Gastroesophageal refluxEnrichmentRPS6KA30.72
991Orthostatic intoleranceEnrichmentRPS6KA30.72
992Congenital myopathy 4a, autosomal dominantEnrichmentITGA70.70
993Severe covid-19EnrichmentIL10RB, JAK30.70
994Pectus excavatumEnrichmentTGFBR10.69
995Meningioma, familialEnrichmentPDGFB0.69
996Combined immunodeficiencyEnrichmentIL2RG0.69
997OsteochondrodysplasiaEnrichmentFGFR30.69
998IchthyosisEnrichmentIL2RB0.69
999Combined t cell and b cell immunodeficiencyEnrichmentIL2RG0.69
1000Combined t and b cell immunodeficiencyEnrichmentIL2RG0.69
1001Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.68
1002Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT30.68
1003Coronary heart disease 5EnrichmentIKBKG0.68
1004Severe combined immunodeficiencyEnrichmentIKBKB, IL7R0.67
1005Septooptic dysplasiaEnrichmentFGFR10.66
1006Cutis laxaEnrichmentLTBP40.66
1007Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.66
1008Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.66
1009Melanoma, cutaneous malignant 1EnrichmentBRAF0.65
1010Dandy-walker syndromeEnrichmentBRAF0.65
1011Myocardial infarctionEnrichmentPSMA60.65
1012Leukemia, chronic lymphocyticEnrichmentTP530.64
1013Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMUSK0.64
1014Familial colorectal cancerEnrichmentTP530.64
1015Ciliary dyskinesia, primary, 3EnrichmentNFKB10.63
1016Brittle bone disorderEnrichmentBMP10.63
1017Heart, malformation ofEnrichmentMAPK10.63
1018Pulmonary hypertension, primary, 1EnrichmentGDF20.63
1019Amelogenesis imperfectaEnrichmentLTBP30.63
1020Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF6, RPS6KA30.62
1021Fetal akinesia deformation sequence 1EnrichmentMUSK, ROR20.60
1022Immune deficiency diseaseEnrichmentRIPK10.60
1023Frontotemporal dementia 1EnrichmentCSF1R0.60
1024Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.60
1025Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.60
1026Heart diseaseEnrichmentCREBBP0.60
1027Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.60
1028Stroke, ischemicEnrichmentF20.60
1029Aplastic anemiaEnrichmentIFNG0.60
1030Polydactyly, postaxial, type a1EnrichmentEP3000.57
1031Corpus callosum, agenesis ofEnrichmentCREBBP0.57
1032Isolated corpus callosum agenesisEnrichmentCREBBP0.57
1033Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.57
1034Cerebral palsyEnrichmentGNB1, PDGFRB0.57
1035EpicanthusEnrichmentTCF40.57
1036Digeorge syndromeEnrichmentHNF1A0.57
1037Postsynaptic congenital myasthenic syndromesEnrichmentMUSK0.57
1038Uterine corpus cancerEnrichmentBRCA10.56
1039Skin diseaseEnrichmentITGB40.56
1040Charcot-marie-tooth diseaseEnrichmentARHGEF10, HSPB10.54
1041Alzheimer's diseaseEnrichmentCSF1R0.54
1042Stereotypic movement disorderEnrichmentTCF40.54
1043Parkinson disease, late-onsetEnrichmentEIF4G10.52
1044Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.52
1045Primary autosomal recessive microcephalyEnrichmentANGPT20.51
1046Periventricular nodular heterotopiaEnrichmentMAP1B0.51
1047CataractEnrichmentEPHA20.51
1048Beckwith-wiedemann syndromeEnrichmentIGF20.51
1049Hypercholesterolemia, familial, 1EnrichmentGHR0.50
1050Breast-ovarian cancer, familial 1EnrichmentBRCA10.50
1051Dilated cardiomyopathyEnrichmentBRAF, RAF10.48
1052Macs syndromeEnrichmentGDF60.47
1053Familial hypercholesterolemiaEnrichmentGHR0.45
1054Alzheimer disease, familial, 1EnrichmentCSF1R0.44
1055Cleft palate, isolatedEnrichmentGNB10.44
1056Cataract 44EnrichmentEPHA20.44
1057Polycystic liver diseaseEnrichmentHNF4A0.44
1058Autosomal dominant polycystic liver diseaseEnrichmentHNF4A0.44
1059Visceral heterotaxyEnrichmentLEFTY20.44
1060Body mass index quantitative trait locus 11EnrichmentBDNF, GNAS0.43
1061Early-onset nuclear cataractEnrichmentEPHA20.42
1062Familial hypertrophic cardiomyopathyEnrichmentRAF10.41
1063ScoliosisEnrichmentCREBBP0.41
1064Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKITLG, MAP1B0.41
1065HypertelorismEnrichmentFGFR2, RPS6KA30.40
1066MicrocephalyEnrichmentGNB1, IGF1R, PAK3, TCF40.40
1067Left ventricular noncompactionEnrichmentRAF10.39
1068Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET, ROR10.39
1069Brugada syndromeEnrichmentSEMA3A0.38
1070Cardiomyopathy, dilated, 1aEnrichmentNFATC20.37
1071LissencephalyEnrichmentDCX0.37
1072Undetermined early-onset epileptic encephalopathyEnrichmentFGF12, NTRK20.37
1073Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, ERBB40.35
1074Diamond-blackfan anemia 1EnrichmentTP530.34
1075Congenital stationary night blindnessEnrichmentGNB30.34
1076Nephrotic syndromeEnrichmentITGA30.33
1077Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.32
1078Cystic fibrosisEnrichmentTGFB10.31
1079Peripheral nervous system diseaseEnrichmentNGF0.31
1080NeuropathyEnrichmentNGF0.31
1081StrabismusEnrichmentGNB10.29
1082Congenital nervous system abnormalityEnrichmentDCX, FGFR3, GNB50.28
1083Nervous system diseaseEnrichmentDCX, FGFR3, GNB50.28
1084Familial isolated dilated cardiomyopathyEnrichmentRAF10.26
1085AutismEnrichmentTCF20, TCF7L20.25
1086DystoniaEnrichmentGNB10.22
1087Diamond-blackfan anemiaEnrichmentTP530.21
1088Developmental and epileptic encephalopathyEnrichmentARHGEF150.21
1089NephronophthisisEnrichmentPIAS10.21
1090Sensorineural hearing lossEnrichmentHGF0.20
1091Cone-rod dystrophy 2EnrichmentITGA40.20
1092Fanconi anemia, complementation group aEnrichmentBRCA10.19
1093Distal arthrogryposisEnrichmentROR20.17
1094West syndromeEnrichmentNTRK20.16
1095Primary ciliary dyskinesiaEnrichmentDRC40.10
1096Mitochondrial diseaseEnrichmentGFER0.08
1097Leber plus diseaseEnrichmentGDF60.06
1098Hereditary retinal dystrophyEnrichmentITGA40.01
1099Fundus dystrophyEnrichmentITGA40.01
1100Retinitis pigmentosaEnrichmentMERTK0.00

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