Apoptotic Pathways in Synovial Fibroblasts

Pathway network for the Apoptotic Pathways in Synovial Fibroblasts SuperPath

Sources:
  • QIAGEN

Pathways in the Apoptotic Pathways in Synovial Fibroblasts SuperPath

#NameSourceGenes
1Apoptotic Pathways in Synovial FibroblastsQIAGEN
2Rap1 PathwayQIAGEN
(see all 266) (see less)
3Actin-Based Motility by Rho Family GTPasesQIAGEN
4Rac1 PathwayQIAGEN
5eIF2 PathwayQIAGEN
6Cellular Apoptosis PathwayQIAGEN
7Nuclear Receptor Activation by Vitamin-AQIAGEN
8PPAR PathwayQIAGEN
9ERK5 SignalingQIAGEN
10Mitochondrial ApoptosisQIAGEN
11DHA SignalingQIAGEN
12Glioma InvasivenessQIAGEN
13Telomerase Components in Cell SignalingQIAGEN
14p53 Mediated ApoptosisQIAGEN

Gene overlap in member pathways for Apoptotic Pathways in Synovial Fibroblasts SuperPath

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

Disorders associated with Apoptotic Pathways in Synovial Fibroblasts SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Noonan syndrome and noonan-related syndromeEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS111.03
3Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.60
4Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS9.47
5Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B57.52
6Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF17.52
7Bladder cancerEnrichmentATM, EGFR, FGFR3, KRAS, RB1, TERT, TP537.12
8Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B57.10
9Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.06
10Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.06
11Colorectal cancerEnrichmentAKT1, ATM, BAX, CHEK2, FGFR2, FGFR3, IGF2, MET, PIK3R1, TP536.82
12GliosarcomaEnrichmentATM, EGFR, FGFR1, FGFR3, NFKBIA, TP536.77
13Leukoencephalopathy with vanishing white matterEnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B56.76
14Giant cell glioblastomaEnrichmentATM, EGFR, FGFR1, FGFR3, NFKBIA, TP536.58
15Lip and oral cavity carcinomaEnrichmentABL1, EGFR, KIT, RB1, TP536.56
16Differentiated thyroid carcinomaEnrichmentBRAF, EIF1AX, HRAS, KRAS, NRAS, NTRK1, NTRK36.33
17Ovarian cancerEnrichmentAKT1, ATM, CHEK2, EGFR, KIT, MET, NTRK1, PDGFRA, PTEN, TP536.21
18Lung cancer susceptibility 3EnrichmentEGFR, FGF10, KRAS, RB1, TP536.16
19Li-fraumeni syndromeEnrichmentCDKN2A, CHEK2, MDM2, TP536.15
20Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TNFRSF10B, TP536.06
21Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.80
22Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS5.68
23Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS15.64
24Lung cancerEnrichmentCASP8, CHEK2, EGFR, FAS, FASLG, MET5.57
25Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.30
26Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF15.24
27GliomaEnrichmentFGFR2, NTRK3, PTEN5.09
28Lung sarcomatoid carcinomaEnrichmentKRAS, TERT, TP535.05
29Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.02
30Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, TIMP34.85
31Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.81
32Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS14.53
33Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS14.53
34Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG4.51
35Hoyeraal-hreidarsson syndromeEnrichmentDKC1, TERT, TINF24.36
36Breast adenocarcinomaEnrichmentAKT1, KRAS, TP534.36
37Lung squamous cell carcinomaEnrichmentEGFR, FGFR3, KRAS4.36
38Breast cancerEnrichmentAKT1, ATM, CASP8, CHEK2, IL2, PTEN, TP534.33
39Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB34.33
40Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS14.31
41Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH14.31
42Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, RRAS4.20
43Dyskeratosis congenitaEnrichmentDKC1, POT1, TERT, TINF24.01
44Hepatocellular carcinomaEnrichmentCASP8, IGF2R, MET, TP533.95
45Loeys-dietz syndromeEnrichmentTGFB2, TGFB3, TGFBR13.90
46Adult hepatocellular carcinomaEnrichmentCASP8, EGF, TP533.90
47Endometrial cancerEnrichmentATM, CHEK2, FGFR2, PTEN3.89
48Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A3.87
49Cervical cancerEnrichmentFGFR3, TP533.86
50Pfeiffer syndromeEnrichmentFGFR1, FGFR23.86
51Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.86
52Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.86
53Cervix carcinomaEnrichmentFGFR3, TP533.86
54Li-fraumeni syndrome 1EnrichmentCHEK2, TP533.79
55SarcomaEnrichmentCHEK2, TP533.79
56Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS3.77
57Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS3.77
58Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.76
59Marfan syndromeEnrichmentLTBP2, TGFB2, TGFBR13.75
60Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.74
61Gastric cancerEnrichmentATM, CHEK2, FGFR2, PTEN, TP533.68
62Hereditary breast carcinomaEnrichmentAKT1, ATM, CHEK2, PTEN, TP533.64
63Angioma, tuftedEnrichmentGNA14, KDR3.60
64Leukemia, chronic lymphocyticEnrichmentATM, POT1, TP533.60
65Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.58
66Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C33.55
67Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C113.55
68Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.55
69Inherited cancer-predisposing syndromeEnrichmentATM, CHEK2, EGFR, KIT, MET, PDGFRA, PTEN, TP533.54
70Pulmonic stenosisEnrichmentBRAF, SOS13.53
71Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.53
72Uterine corpus cancerEnrichmentATM, CHEK2, PTEN3.51
73Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.46
74Crouzon syndromeEnrichmentFGFR2, FGFR33.39
75Psoriatic arthritisEnrichmentLTA, TNF3.39
76Testicular germ cell cancerEnrichmentFGFR3, KIT3.39
77MeningiomaEnrichmentAKT1, PDGFB, PTEN3.39
78Prostate cancerEnrichmentATM, CHEK2, PTEN, TP533.33
79Osteogenic sarcomaEnrichmentCHEK2, TP533.32
80AdenocarcinomaEnrichmentATM, TP533.32
81Laryngeal squamous cell carcinomaEnrichmentPTEN, TNFRSF10B3.32
82Bone osteosarcomaEnrichmentCHEK2, TP533.32
83Pancreatic cancerEnrichmentATM, CDKN2A, CHEK2, TP533.32
84Squamous cell carcinomaEnrichmentRB1, TP533.29
85Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB33.27
86Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.27
87Primary hyperaldosteronismEnrichmentBRAF, CACNA1H, GNAS3.24
88Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS13.19
89Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS13.19
90SpermatocytomaEnrichmentFGFR3, HRAS3.13
91Anastomosing haemangiomaEnrichmentGNA11, GNA143.13
92Brachydactyly, type a2EnrichmentBMP2, GDF53.09
93Autoimmune lymphoproliferative syndromeEnrichmentFAS, FASLG3.09
94Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.09
95Multiple synostoses syndromeEnrichmentGDF5, GDF63.09
96Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH4C1, H4C93.07
97Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.07
98Nasopharyngeal carcinomaEnrichmentNFKBIA, TP533.06
99Primary ovarian insufficiencyEnrichmentBMP6, CHEK2, IGF2R, KDR, NTRK13.04
100Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS13.02
101Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.02
102Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.02
103Small cell cancer of the lungEnrichmentRB1, TP532.99
104Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS2.99
105Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C2.95
106T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3E2.95
107Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, MYLK, TGFB2, TGFB3, TGFBR12.89
108Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.87
109Insulin-like growth factor iEnrichmentIGF1, IGF1R2.87
110Ventricular septal defect 1EnrichmentBMP2, BMP72.87
111HoloprosencephalyEnrichmentFGF8, FGFR12.87
112Familial cerebral saccular aneurysmEnrichmentANGPTL6, TGFBR32.87
113Achromatopsia 4EnrichmentGNAI3, GNAT22.83
114Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB2, SEMA3A2.81
115Acute megakaryocytic leukemiaEnrichmentPTEN, TP532.80
116HemimegalencephalyEnrichmentAKT3, PTEN2.80
117Diffuse large b-cell lymphomaEnrichmentCHEK2, PTEN, TP532.77
118Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.76
119Leukemia, acute myeloidEnrichmentKIT, KRAS, TERT, TP532.73
120Atrial septal defect 1EnrichmentBMP2, TGFB22.70
121Holoprosencephaly 1EnrichmentFGF8, FGFR12.70
122Hemangioma, capillary infantileEnrichmentFLT4, KDR2.70
123Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG2, MYLK2.69
124Myeloma, multipleEnrichmentCREBBP, FGFR3, KRAS, PIK3R2, RXRA2.68
125Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK12.65
126Cowden syndrome 1EnrichmentEGFR, PTEN2.63
127Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT, TINF22.60
128Adrenocortical carcinomaEnrichmentTERT, TP532.60
129HepatoblastomaEnrichmentFGFR3, TERT, TP532.60
130Hemihyperplasia, isolatedEnrichmentIGF2, RHOA2.58
131Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB42.58
132Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.56
133Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK12.56
134Essential thrombocythemiaEnrichmentTHPO, TP532.56
135Renal cell carcinoma, papillary, 1EnrichmentATM, MET2.49
136Visceral myopathy 1EnrichmentACTG2, MYLK2.48
137Leukemia, chronic myeloidEnrichmentABL1, KRAS2.46
138Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT, TINF22.46
139Gallbladder cancerEnrichmentKRAS, TP532.46
140B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, TP532.46
141Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB32.44
142Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.44
143Hemochromatosis, type 1EnrichmentBMP2, BMP62.44
144Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.42
145Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.42
146Severe combined immunodeficiencyEnrichmentCD247, CD3E, LCK, ZAP702.42
147Type 1 diabetes mellitusEnrichmentIL6, INS2.37
14846,xy disorder of sex developmentEnrichmentFGFR3, INSR2.37
149Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK1, TGFB12.37
150Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK1, TGFB12.37
151Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, FGF12, NTRK22.33
152Typical nemaline myopathyEnrichmentACTA1, CFL22.31
153Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.28
154Hereditary breast ovarian cancer syndromeEnrichmentATM, CHEK2, PTEN, TP532.28
155Colonic benign neoplasmEnrichmentATM, CHEK22.26
156Cowden syndromeEnrichmentAKT1, PTEN2.26
157Junctional epidermolysis bullosaEnrichmentITGA6, ITGB42.21
158Renal agenesis, bilateralEnrichmentFGF20, ITGA82.21
159Lynch syndrome 1EnrichmentATM, CHEK22.17
160MelanomaEnrichmentCHEK2, PTEN2.17
161Cerebral palsyEnrichmentCACNA1A, CACNA1C, GNB1, PDGFRB2.16
162Glioma susceptibility 1EnrichmentH3-3A, H3C12.13
163Inflammatory bowel disease 1EnrichmentIL6, PRKCQ2.13
164Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB32.12
165Meningioma, familialEnrichmentPDGFB, PTEN2.08
166Familial colorectal cancer type xEnrichmentATM, CHEK22.08
167Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR32.08
168Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, GNAS, PPARG2.06
169Charge syndromeEnrichmentEP300, TNFRSF1A2.06
170Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.06
171Arteriovenous malformationEnrichmentHRAS, MAP2K12.06
172TrichothiodystrophyEnrichmentGTF2E2, GTF2H52.02
173Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D4, GNB32.01
174Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K11.97
175Cleft lip/palateEnrichmentBMP4, PDGFRA1.95
176Breast-ovarian cancer, familial 1EnrichmentATM, CHEK21.94
177Nk-cell enteropathyEnrichmentCHEK2, IGF1R1.94
178Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.93
179HypochondroplasiaEnrichmentFGFR31.93
180Proteus syndromeEnrichmentAKT11.93
181Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.93
182Osteoglophonic dysplasiaEnrichmentFGFR11.93
183Thanatophoric dysplasia, type iEnrichmentFGFR31.93
184Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.93
185Trigonocephaly 1EnrichmentFGFR11.93
186Spinocerebellar ataxia 27aEnrichmentFGF141.93
187Muenke syndromeEnrichmentFGFR31.93
188Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.93
189Type 1 diabetes mellitus 10EnrichmentIL2RA1.93
190Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP1.93
191Hypomagnesemia 4, renalEnrichmentEGF1.93
192Glaucoma 3, primary congenital, dEnrichmentLTBP21.93
193Microphthalmia, isolated 4EnrichmentGDF61.93
194Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.93
195Caspase 8 deficiencyEnrichmentCASP81.93
196Leprosy 4EnrichmentLTA1.93
197Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.93
198Deafness, autosomal recessive 39EnrichmentHGF1.93
199Mastocytosis, cutaneousEnrichmentKIT1.93
200Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.93
201Apert syndromeEnrichmentFGFR21.93
202Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.93
203Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.93
204Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.93
205Myofibromatosis, infantile, 1EnrichmentPDGFRB1.93
206Thanatophoric dysplasia, type iiEnrichmentFGFR31.93
207Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.93
208Ciliary dyskinesia, primary, 33EnrichmentDRC41.93
209Gist-plus syndromeEnrichmentPDGFRA1.93
210Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.93
211Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.93
212Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.93
213Aplasia of lacrimal and salivary glandsEnrichmentFGF101.93
214Bent bone dysplasia syndrome 1EnrichmentFGFR21.93
215Weill-marchesani syndrome 3EnrichmentLTBP21.93
216Developmental and epileptic encephalopathy 58EnrichmentNTRK21.93
217Multiple synostoses syndrome 4EnrichmentGDF61.93
218Intellectual developmental disorder, x-linked 110EnrichmentFGF131.93
219Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.93
220Hyperemesis gravidarumEnrichmentGDF151.93
221Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.93
222Deafness, autosomal recessive 125EnrichmentGAS21.93
223Short syndromeEnrichmentPIK3R11.93
224Bone marrow failure syndrome 5EnrichmentTP531.93
225Hereditary lymphedema idEnrichmentVEGFC1.93
226Osteofibrous dysplasiaEnrichmentMET1.93
227Papilloma of choroid plexusEnrichmentTP531.93
228Microphthalmia, syndromic 6EnrichmentBMP41.93
229Basal cell carcinoma 7EnrichmentTP531.93
230Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.93
231Anaplastic thyroid carcinomaEnrichmentTP531.93
232Developmental and epileptic encephalopathy 90EnrichmentFGF131.93
233Orofacial cleft 11EnrichmentBMP41.93
234Metacarpal 4-5 fusionEnrichmentFGF161.93
235Lymphatic malformation 4EnrichmentVEGFC1.93
236Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.93
237Familial isolated trichomegalyEnrichmentFGF51.93
238Deafness, autosomal recessive 97EnrichmentMET1.93
239Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.93
240Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.93
241Camurati-engelmann disease 2EnrichmentTGFB21.93
242Geleophysic dysplasia 3EnrichmentLTBP31.93
243Autism 9EnrichmentMET1.93
244Glaucoma 1, open angle, oEnrichmentNTF41.93
245Iron overloadEnrichmentBMP61.93
246Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.93
247Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.93
248Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.93
249Multiple sclerosis 5EnrichmentTNFRSF1A1.93
250Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD1.93
251Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.93
252Leber congenital amaurosis 17EnrichmentGDF61.93
253Cowden syndrome 6EnrichmentAKT11.93
254Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.93
255Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.93
256Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.93
257Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.93
258Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.93
259Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.93
260Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.93
261Ductal carcinoma in situEnrichmentTP531.93
262Kosaki overgrowth syndromeEnrichmentPDGFRB1.93
263Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.93
264Hartsfield syndromeEnrichmentFGFR11.93
265Congenital heart defects, multiple types, 7EnrichmentFLT41.93
266Loeys-dietz syndrome 5EnrichmentTGFB31.93
267Renal hypodysplasia/aplasia 2EnrichmentFGF201.93
268Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.93
26920p12.3 microdeletion syndromeEnrichmentBMP21.93
270Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.93
271Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.93
272Developmental and epileptic encephalopathy 47EnrichmentFGF121.93
273Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.93
274Chronic mast cell leukemiaEnrichmentKIT1.93
275Premature ovarian failure 14EnrichmentGDF91.93
276Thyroid gland undifferentiated carcinomaEnrichmentTP531.93
277Tufted angioma of skinEnrichmentKDR1.93
278Deafness, autosomal dominant 69EnrichmentKITLG1.93
279Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.93
280Thrombocytopenia 9EnrichmentTHPO1.93
281Arthrogryposis, distal, type 11EnrichmentMET1.93
282Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.93
283Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.93
284Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.93
285Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.93
286Isolated bone marrow mastocytosisEnrichmentKIT1.93
287Smoldering systemic mastocytosisEnrichmentKIT1.93
288Choroid plexus cancerEnrichmentTP531.93
289Spinocerebellar ataxia type 27bEnrichmentFGF141.93
290Fgfr3-related chondrodysplasiaEnrichmentFGFR31.93
291MastocytosisEnrichmentKIT1.93
292Congenital primary lymphedema of gordonEnrichmentVEGFC1.93
293Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.93
294Familial progressive hyperpigmentationEnrichmentKITLG1.93
295Pleomorphic xanthoastrocytomaEnrichmentTP531.93
296Cutaneous mastocytomaEnrichmentKIT1.93
297Typical urticaria pigmentosaEnrichmentKIT1.93
298Nodular urticaria pigmentosaEnrichmentKIT1.93
299Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.93
300Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.93
301Telangiectasia macularis eruptiva perstansEnrichmentKIT1.93
302Acute mast cell leukemiaEnrichmentKIT1.93
303Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.93
304Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.93
305Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.93
306Plaque-form urticaria pigmentosaEnrichmentKIT1.93
307Interstitial lung disease specific to childhoodEnrichmentFGF101.93
308Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.93
309Testis seminomaEnrichmentKIT1.93
310Specific learning disabilityEnrichmentRPS6KA3, YWHAG1.90
311Non-immune hydrops fetalisEnrichmentFLT4, HRAS, KRAS1.90
312Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.89
313Vacterl association with hydrocephalusEnrichmentPTEN1.89
314Seckel syndrome 1EnrichmentATR1.89
315Accelerated tumor formationEnrichmentMDM21.89
316Lessel-kubisch syndromeEnrichmentMDM21.89
317Papillary tumor of the pineal regionEnrichmentPTEN1.89
318Tumor predisposition syndrome 4EnrichmentCHEK21.89
319Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.89
320Thrombocytopenia 4EnrichmentCYCS1.89
321Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR1.89
322Olmsted syndrome 2EnrichmentPERP1.89
323Endometrial serous adenocarcinomaEnrichmentATM1.89
324Glioma susceptibility 2EnrichmentPTEN1.89
325LeiomyosarcomaEnrichmentCHEK21.89
326Erythrokeratodermia variabilis et progressiva 7EnrichmentPERP1.89
327Capillary hemangiomaEnrichmentAKT31.89
328Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK11.89
329B-cell non-hodgkin lymphomaEnrichmentATM1.89
330Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR1.89
331Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.89
332Akt2-related familial partial lipodystrophyEnrichmentAKT21.89
333HydrocephalusEnrichmentFGFR2, PDGFRB1.89
334Oculoectodermal syndromeEnrichmentKRAS1.88
335Spinocerebellar ataxia 12EnrichmentPPP2R2B1.88
336Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.88
337Tumor predisposition syndrome 3EnrichmentPOT11.88
338Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.88
339Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8EnrichmentPOT11.88
340Houge-janssens syndrome 4EnrichmentPPP2R5C1.88
341Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1EnrichmentDKC11.88
342Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.88
343Houge-janssens syndrome 2EnrichmentPPP2R1A1.88
344Spinocerebellar ataxia 14EnrichmentPRKCG1.88
345High-grade astrocytoma with piloid featuresEnrichmentPOT11.88
346Cerebroretinal microangiopathy with calcifications and cysts 3EnrichmentPOT11.88
347Autosomal recessive dyskeratosis congenita 4EnrichmentTERT1.88
348Trilateral retinoblastomaEnrichmentRB11.88
349Congenital pulmonary airway malformationEnrichmentKRAS1.88
350Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.88
351Lung oat cell carcinomaEnrichmentRB11.88
352Systemic lupus erythematosus 6EnrichmentITGAM1.87
353Melanosis, neurocutaneousEnrichmentNRAS1.87
354Noonan syndrome 6EnrichmentNRAS1.87
355Noonan syndrome 11EnrichmentMRAS1.87
356Angioedema, hereditary, 4EnrichmentPLG1.87
357Noonan syndrome 13EnrichmentMAPK11.87
358Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.87
359Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.87
360Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.87
361Immunodeficiency 129EnrichmentRHOH1.87
362Amelogenesis imperfecta, type ihEnrichmentITGB61.87
363T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.87
364Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.87
365Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.87
366Phakomatosis pigmentokeratoticaEnrichmentHRAS1.87
367Neurocutaneous melanocytosisEnrichmentNRAS1.87
368Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.84
369Fleck retina, familial benignEnrichmentPLA2G51.84
370Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.84
371Parkinson-dementia syndromeEnrichmentMAPT1.84
372Supranuclear palsy, progressive, 1EnrichmentMAPT1.84
373Progressive supranuclear palsyEnrichmentMAPT1.84
374Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.84
375Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.84
376Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.84
377Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.84
378Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.84
379Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.84
380Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G71.84
381Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.84
382Classic progressive supranuclear palsy syndromeEnrichmentMAPT1.84
383Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP21.84
384Atypical progressive supranuclear palsy syndromeEnrichmentMAPT1.84
385Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.84
386Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.84
387Familial benign flecked retinaEnrichmentPLA2G51.84
388Heritable pulmonary arterial hypertensionEnrichmentEIF2AK4, GDF21.83
389Immune deficiency diseaseEnrichmentATM, RIPK11.83
390Alzheimer's diseaseEnrichmentAPP, MAPT1.83
391Charcot-marie-tooth disease, x-linked recessive, 5EnrichmentPRPS11.82
392Coffin-lowry syndromeEnrichmentRPS6KA31.82
393Arts syndromeEnrichmentPRPS11.82
394Parkinson disease 13, autosomal dominantEnrichmentHTRA21.82
395Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2EnrichmentSLC25A41.82
396Mitochondrial dna depletion syndrome 12b , autosomal recessiveEnrichmentSLC25A41.82
397Phosphoribosylpyrophosphate synthetase superactivityEnrichmentPRPS11.82
398Deafness, x-linked 1EnrichmentPRPS11.82
399Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.82
400Mitochondrial dna depletion syndrome 12a , autosomal dominantEnrichmentSLC25A41.82
401Mitochondrial metabolism diseaseEnrichmentSLC25A41.82
402Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.82
403Cdkn2a cancer predispositionEnrichmentCDKN2A1.82
404Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.82
405X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeEnrichmentPRPS11.82
406Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.82
407Renal cell carcinoma, nonpapillaryEnrichmentATM, MET1.82
408Wilms tumor 1EnrichmentCHEK2, IGF21.82
409Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.80
410Deafness, autosomal recessive 26EnrichmentGAB11.80
411Pseudohypoparathyroidism, type icEnrichmentGNAS1.80
412Osseous heteroplasia, progressiveEnrichmentGNAS1.80
413Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.80
414Ventricular tachycardia, familialEnrichmentGNAI21.80
415Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.80
416Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.80
417Stuve-wiedemann syndrome 2EnrichmentIL6ST1.80
418Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST1.80
419Pituitary adenoma 3, multiple typesEnrichmentGNAS1.80
420Pseudohypoaldosteronism, type iicEnrichmentWNK11.80
421Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.80
422Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.80
423Developmental and epileptic encephalopathy 17EnrichmentGNAO11.80
424Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.80
425Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A1.80
426Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.80
427Dystonia 25EnrichmentGNAL1.80
428Night blindness, congenital stationary, type 1gEnrichmentGNAT11.80
429Hypocalcemia, autosomal dominant 2EnrichmentGNA111.80
430Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.80
431Disorders of gnas inactivationEnrichmentGNAS1.80
432Thrombocytopenia 6EnrichmentSRC1.80
433Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST1.80
434Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST1.80
435Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.80
436Sick sinus syndrome 4EnrichmentGNB21.80
4375q14.3 microdeletion syndromeEnrichmentMEF2C1.80
438Cerebral cavernous malformations 5EnrichmentMAP3K31.80
439Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.80
440Monostotic fibrous dysplasiaEnrichmentGNAS1.80
441Gnao1-related disorderEnrichmentGNAO11.80
442Mef2c-related disorderEnrichmentMEF2C1.80
443Phakomatosis cesiomarmorataEnrichmentGNA111.80
444Verrucous hemangiomaEnrichmentMAP3K31.80
445Kaposiform hemangioendotheliomaEnrichmentGNA141.80
446Mazabraud syndromeEnrichmentGNAS1.80
447Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.79
448Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.79
449Noonan syndrome 5EnrichmentRAF11.79
450Noonan syndrome 4EnrichmentSOS11.79
451Carney complex, type 1EnrichmentPRKAR1A1.79
452Melorheostosis, isolatedEnrichmentMAP2K11.79
453Cardiomyopathy, dilated, 1nnEnrichmentRAF11.79
454Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.79
455Noonan syndrome 9EnrichmentSOS21.79
456Deafness, autosomal recessive 44EnrichmentADCY11.79
457Frontometaphyseal dysplasia 2EnrichmentMAP3K71.79
458Cardioacrofacial dysplasia 2EnrichmentPRKACB1.79
459Myxoma, intracardiacEnrichmentPRKAR1A1.79
460MelorheostosisEnrichmentMAP2K11.79
461Leopard syndrome 2EnrichmentRAF11.79
462Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.79
463Cardioacrofacial dysplasia 1EnrichmentPRKACA1.79
464Menke-hennekam syndrome 1EnrichmentCREBBP1.79
465TrigonitisEnrichmentRAF11.79
466Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG1.79
467Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.79
468Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.79
469Menke-hennekam syndromeEnrichmentCREBBP1.79
470Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, ERBB4, GNB11.78
471Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF11.77
472Dystonia 3, torsion, x-linkedEnrichmentTAF11.77
473Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityEnrichmentTAF21.77
474Trichothiodystrophy 6, nonphotosensitiveEnrichmentGTF2E21.77
475Microphthalmia, syndromic 12EnrichmentRARB1.77
476Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.77
477Alazami-yuan syndromeEnrichmentTAF61.77
478Intellectual developmental disorder, autosomal recessive 60EnrichmentTAF131.77
479Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.77
480Fraser syndrome 3EnrichmentGRIP11.77
481X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF11.77
482Donohue syndromeEnrichmentINSR1.76
483Pallister-killian syndromeEnrichmentARAF1.76
484Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.76
485Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.76
486Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.76
487Noonan syndrome 7EnrichmentBRAF1.76
488Leopard syndrome 3EnrichmentBRAF1.76
489Parkinson disease 18, autosomal dominantEnrichmentEIF4G11.76
490Mehmo syndromeEnrichmentEIF2S31.76
491Leukoencephalopathy with vanishing white matter 3EnrichmentEIF2B31.76
492Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK21.76
493Autism 19EnrichmentEIF4E1.76
494Leukoencephalopathy, motor delay, spasticity, and dysarthria syndromeEnrichmentEIF2AK11.76
495LymphangiomaEnrichmentBRAF1.76
496Phace associationEnrichmentBRAF1.76
497Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A21.76
498Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.76
499Faundes-banka syndromeEnrichmentEIF5A1.76
500Dystonia 33EnrichmentEIF2AK21.76
501Leukoencephalopathy with vanishing white matter 2EnrichmentEIF2B21.76
502Syringocystadenoma papilliferumEnrichmentBRAF1.76
503GangliogliomaEnrichmentBRAF1.76
504Nongerminomatous germ cell tumorEnrichmentBRAF1.76
505Phace syndromeEnrichmentBRAF1.76
506Classic hairy cell leukemiaEnrichmentBRAF1.76
507Incontinentia pigmentiEnrichmentIKBKG1.76
508Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.76
509Fetal encasement syndromeEnrichmentCHUK1.76
510Immunodeficiency 15bEnrichmentIKBKB1.76
511Immunodeficiency 15aEnrichmentIKBKB1.76
512Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.76
513Bartsocas-papas syndrome 2EnrichmentCHUK1.76
514Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.76
515Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.76
516Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF121.76
517RhabdomyosarcomaEnrichmentPTEN, TP531.76
518Intellectual developmental disorder, x-linked 30EnrichmentPAK31.75
519Cardiac valvular dysplasia 1EnrichmentPLD11.75
520Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.75
521Knobloch syndrome 2EnrichmentPAK21.75
522Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.75
523Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.75
524Nemaline myopathy 7EnrichmentCFL21.75
5258p11.2 deletion syndromeEnrichmentANK11.75
526Takenouchi-kosaki syndromeEnrichmentCDC421.75
527Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM11.75
528Congenital dyserythropoietic anemia type iiibEnrichmentRACGAP11.75
529Nocarh syndromeEnrichmentCDC421.75
530Anemia, congenital dyserythropoietic, type iiib, autosomal recessiveEnrichmentRACGAP11.75
531Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.75
532Baraitser-winter syndrome 1EnrichmentACTB1.73
533Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.73
534Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.73
535Amyloidosis, finnish typeEnrichmentGSN1.73
536Amyotrophic lateral sclerosis 18EnrichmentPFN11.73
537Myopathy, scapulohumeroperonealEnrichmentACTA11.73
538Nephrotic syndrome, type 8EnrichmentARHGDIA1.73
539Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.73
540Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.73
541Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.73
542Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.73
543Becker nevus syndromeEnrichmentACTB1.73
544Dystonia-deafness syndrome 1EnrichmentACTB1.73
545Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.73
546Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.73
547Autosomal dominant familial visceral neuropathyEnrichmentACTG21.73
548Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.73
549Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.73
550Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.73
551Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.73
552Baraitser-winter syndromeEnrichmentACTB1.73
553Zebra body myopathyEnrichmentACTA11.73
554Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.73
555Congenital smooth muscle hamartomaEnrichmentACTB1.73
556Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.73
557Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.73
558Actin-accumulation myopathyEnrichmentACTA11.73
559Myopathic intestinal pseudoobstructionEnrichmentACTG21.73
560Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.73
561Actg2 visceral myopathyEnrichmentACTG21.73
562Hirschsprung disease 1EnrichmentERBB2, ERBB3, NRG31.73
563Osteogenesis imperfecta, type iiiEnrichmentBMP1, SERPINF11.71
564Acute promyelocytic leukemiaEnrichmentPRKAR1A, RARA1.71
565Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.71
566Erythroleukemia, familialEnrichmentERBB31.71
567Paget disease, extramammaryEnrichmentERBB21.71
568Thyrotoxic periodic paralysis 1EnrichmentCACNA1S1.71
569Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.71
570Epilepsy, idiopathic generalized 9EnrichmentCACNB41.71
571Brugada syndrome 4EnrichmentCACNB21.71
572Bleeding disorder, platelet-type, 18EnrichmentRASGRP21.71
573Lethal congenital contracture syndrome 2EnrichmentERBB31.71
574Episodic ataxia, type 5EnrichmentCACNB41.71
575Immunodeficiency 62EnrichmentARHGEF11.71
576Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP11.71
577Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.71
578Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.71
579Immunodeficiency 81EnrichmentLCP21.71
580Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.71
581Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I1.71
582Congenital myopathy 18EnrichmentCACNA1S1.71
583Immunodeficiency 48EnrichmentZAP701.71
584Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.71
585Thrombocytopenia 3EnrichmentFYB11.71
586Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F1.71
587Retinal cone dystrophy 4EnrichmentCACNA2D41.71
588Immunodeficiency 18EnrichmentCD3E1.71
589Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.71
590Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D1.71
591Immunodeficiency 25EnrichmentCD2471.71
592Brugada syndrome 3EnrichmentCACNA1C1.71
593Epilepsy, childhood absence 6EnrichmentCACNA1H1.71
594Malignant hyperthermia 5EnrichmentCACNA1S1.71
595Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG21.71
596Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D1.71
597Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.71
598Amyotrophic lateral sclerosis 19EnrichmentERBB41.71
599Spinocerebellar ataxia 42EnrichmentCACNA1G1.71
600Developmental and epileptic encephalopathy 110EnrichmentCACNA2D11.71
601Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.71
602Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.71
603Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G1.71
604Immunodeficiency 22EnrichmentLCK1.71
605Developmental and epileptic encephalopathy 69EnrichmentCACNA1E1.71
606Hyperaldosteronism, familial, type ivEnrichmentCACNA1H1.71
607Congenital autosomal recessive small-platelet thrombocytopeniaEnrichmentFYB11.71
608Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.71
609Conn's syndromeEnrichmentCACNA1H1.71
610Immunodeficiency 64EnrichmentRASGRP11.71
611Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP11.71
612Sporadic hemiplegic migraineEnrichmentCACNA1A1.71
613Atypical timothy syndromeEnrichmentCACNA1C1.71
614Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D1.71
615Timothy syndrome type 2EnrichmentCACNA1C1.71
616Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S1.71
617Timothy syndrome type 1EnrichmentCACNA1C1.71
618Serous carcinoma of the corpus uteriEnrichmentERBB21.71
619Zap70-related severe combined immunodeficiencyEnrichmentZAP701.71
620Cacna1c-related disordersEnrichmentCACNA1C1.71
621Benign paroxysmal torticollis of infancyEnrichmentCACNA1A1.71
622Pulmonary hypertension, primary, 1EnrichmentEIF2AK4, GDF21.69
623Behcet syndromeEnrichmentFAS, TNFRSF1A1.69
624Melanoma, cutaneous malignant 1EnrichmentPOT1, TERT1.68
625Multiple sclerosisEnrichmentITGB4, TNFRSF1A1.68
626Neural tube defectsEnrichmentITGB1, PARD31.66
627CraniosynostosisEnrichmentFGFR2, FGFR31.65
628Acromicric dysplasiaEnrichmentLTBP31.63
629Cri-du-chat syndromeEnrichmentSEMA5A1.63
630Lymphatic malformation 1EnrichmentFLT41.63
631Sorsby fundus dystrophyEnrichmentTIMP31.63
632Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.63
633Adrenocortical carcinoma, hereditaryEnrichmentTP531.63
634Camurati-engelmann disease 1EnrichmentTGFB11.63
635Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.63
636TrichomegalyEnrichmentFGF51.63
637Intracranial hypertension, idiopathicEnrichmentFLT41.63
638Kyphomelic dysplasiaEnrichmentCCN21.63
639Omodysplasia 1EnrichmentGPC61.63
640Pulmonary hypoplasia, primaryEnrichmentFGF101.63
641Dermatofibrosarcoma protuberansEnrichmentPDGFB1.63
642Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.63
643Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.63
644Loeys-dietz syndrome 2EnrichmentTGFBR11.63
645Parkinson disease 8, autosomal dominantEnrichmentGDF61.63
646Piebald traitEnrichmentKIT1.63
647Aural atresia, congenitalEnrichmentFGFR21.63
648Keratosis, seborrheicEnrichmentFGFR31.63
649Multiple synostoses syndrome 2EnrichmentGDF51.63
650Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.63
651Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.63
652Silver-russell syndrome 3EnrichmentIGF21.63
653Osteogenesis imperfecta, type xiiiEnrichmentBMP11.63
654Lymphoma, hodgkin, classicEnrichmentTP531.63
655Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.63
656Brachydactyly, type a1, cEnrichmentGDF51.63
657Symphalangism, proximal, 1bEnrichmentGDF51.63
658Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.63
659Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.63
660Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.63
661Waardenburg syndrome, type 2fEnrichmentKITLG1.63
662Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.63
663Kowarski syndromeEnrichmentGH11.63
664Infantile myofibromatosisEnrichmentPDGFRB1.63
665Immunodeficiency 127EnrichmentTNF1.63
666Childhood hepatocellular carcinomaEnrichmentMET1.63
667Split hand-foot malformationEnrichmentFGFR21.63
668Rosette-forming glioneuronal tumorEnrichmentFGFR11.63
669Papillary renal cell carcinomaEnrichmentMET1.63
670Congenital mesoblastic nephromaEnrichmentNTRK31.63
671Camurati-engelmann diseaseEnrichmentTGFB11.63
672Congenital fibrosarcomaEnrichmentTP531.63
673Microphthalmia/coloboma 6EnrichmentGDF61.63
674Hodgkin's lymphomaEnrichmentTP531.63
675FibrosarcomaEnrichmentNTRK31.63
676Proximal symphalangismEnrichmentGDF51.63
677Hereditary lymphedema iEnrichmentFLT41.63
678Craniosynostosis 7EnrichmentBMP21.63
679Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.63
680Interfrontal craniofaciosynostosisEnrichmentFGFR11.63
681Intermittent hydrarthrosisEnrichmentTNFRSF1A1.63
682Short stature due to growth hormone qualitative anomalyEnrichmentGH11.63
683Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.63
684Chronic eosinophilic leukemiaEnrichmentPDGFRA1.63
685Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.63
686B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.63
687B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.63
688Common variable immunodeficiency 12EnrichmentNFKB11.63
689Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.63
690Pleomorphic rhabdomyosarcomaEnrichmentTP531.63
691Oculootodental syndromeEnrichmentFADD1.63
692Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.63
693Rare genetic intellectual disabilityEnrichmentCREBBP, EP3001.62
694Alzheimer disease, familial, 1EnrichmentAPP, MAPT1.61
695Congenital heart defects, multiple types, 3EnrichmentCHEK21.60
696Cardiac valvular dysplasia, x-linkedEnrichmentATM1.60
697Intravascular large b-cell lymphomaEnrichmentBCL21.60
698Senior-loken syndrome 7EnrichmentAKT31.60
699High grade gliomaEnrichmentATM1.60
700Bardet-biedl syndrome 16EnrichmentAKT31.60
701T-cell prolymphocytic leukemiaEnrichmentATM1.60
702Vacterl with hydrocephalusEnrichmentPTEN1.60
703Juvenile polyposis of infancyEnrichmentPTEN1.60
704Burkitt lymphomaEnrichmentMYC1.58
705Revesz syndromeEnrichmentTINF21.58
706Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT1.58
707Chromosome 13q14 deletion syndromeEnrichmentRB11.58
708Houge-janssens syndrome 1EnrichmentPPP2R5D1.58
709Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.58
710Dyskeratosis congenita, autosomal dominant 3EnrichmentTINF21.58
711OligodendrogliomaEnrichmentPOT11.58
712Melanoma, cutaneous malignant 9EnrichmentTERT1.58
713Idiopathic interstitial pneumoniaEnrichmentTERT1.58
714Anaplastic oligodendrogliomaEnrichmentPOT11.58
715Familial retinoblastomaEnrichmentRB11.58
716Leukocyte adhesion deficiency, type iEnrichmentITGB21.57
717Scoliosis, isolated 1EnrichmentMAPK71.57
718Costello syndromeEnrichmentHRAS1.57
719Plasminogen deficiency, type iEnrichmentPLG1.57
720Quebec platelet disorderEnrichmentPLAU1.57
721Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.57
722Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.57
723Noonan syndrome 12EnrichmentRRAS21.57
724Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.57
725Metaphyseal anadysplasia 2EnrichmentMMP91.57
726Hereditary angioedemaEnrichmentPLG1.57
727Metaphyseal anadysplasiaEnrichmentMMP91.57
728Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.57
729Wooly hair nevusEnrichmentHRAS1.57
730ThrombocytopeniaEnrichmentITGA2B, ITGB3, THPO1.57
731Tooth agenesisEnrichmentFGFR1, TGFA1.57
732MicrocephalyEnrichmentACTB, ACTG1, GNAO1, GNB1, IGF1R, PAK31.56
733Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.54
734Pick disease of brainEnrichmentMAPT1.54
735Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.54
736Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.53
737Spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophyEnrichmentAIFM11.53
738Charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxiaEnrichmentAIFM11.53
739Combined oxidative phosphorylation deficiency 6EnrichmentAIFM11.53
740Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.53
741Deafness, autosomal dominant 64EnrichmentDIABLO1.53
742Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.53
743Charcot-marie-tooth disease x-linked recessive 4EnrichmentAIFM11.53
744Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D41.53
745Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, ITGA71.51
746Pseudohypoparathyroidism, type iaEnrichmentGNAS1.50
747Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.50
748Cutis marmorata telangiectatica congenitaEnrichmentGNA111.50
749Histiocytoma, angiomatoid fibrousEnrichmentCREB11.50
750PseudopseudohypoparathyroidismEnrichmentGNAS1.50
751Night blindness, congenital stationary, type 1hEnrichmentGNB31.50
752Autosomal dominant hypocalcemiaEnrichmentGNA111.50
753PseudohypoparathyroidismEnrichmentGNAS1.50
754HypopituitarismEnrichmentGNAI21.50
755Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.50
756Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.50
757Cerebral visual impairmentEnrichmentGNB11.50
758Phakomatosis cesioflammeaEnrichmentGNA111.50
759Autoinflammatory diseaseEnrichmentTNFRSF1A, XIAP1.50
760Fibromatosis, gingival, 1EnrichmentSOS11.49
761Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.49
762Thumb deformityEnrichmentCREBBP1.49
763Carotid intimal medial thickness 1EnrichmentPPARG1.49
764Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.49
765Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.49
766Menke-hennekam syndrome 2EnrichmentEP3001.49
767Usher syndrome, type ivEnrichmentPRKAR1A1.49
768Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.49
769AcrodysostosisEnrichmentPRKAR1A1.49
770Body mass index quantitative trait locus 19EnrichmentADCY31.49
771Fibrolamellar carcinomaEnrichmentPRKACA1.49
772Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.49
773Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.49
774Familial partial lipodystrophyEnrichmentPPARG1.49
775Developmental and epileptic encephalopathyEnrichmentARHGEF15, CACNA1E, CACNA2D21.48
776Spinocerebellar ataxia 17EnrichmentTBP1.48
777Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB1.48
778Intellectual developmental disorder, autosomal dominant 73EnrichmentTAF41.48
779Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.47
780Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.47
781Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentEIF2AK41.47
782Premature ovarian failure 3EnrichmentAGO21.47
783Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.47
784Pulmonary venoocclusive disease 2, autosomal recessiveEnrichmentEIF2AK41.47
785Maturity-onset diabetes of the young, type 10EnrichmentINS1.47
786Intellectual developmental disorder, autosomal recessive 67EnrichmentEIF3F1.47
787Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.47
788HyperproinsulinemiaEnrichmentINS1.47
789Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.47
790Leukoencephalopathy with vanishing white matter 4EnrichmentEIF2B41.47
791Pulmonary venoocclusive disease 1EnrichmentEIF2AK41.47
792Pulmonary venoocclusive disease 2EnrichmentEIF2AK41.47
793Leukodystrophy, hypomyelinating, 17EnrichmentEIF2AK11.47
794Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.47
795Pulmonary venoocclusive diseaseEnrichmentEIF2AK41.47
796Tafro syndromeEnrichmentMAP2K21.47
797Immunodeficiency 33EnrichmentIKBKG1.47
798Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.47
799Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.47
800Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.47
801Brachydactyly, type a1EnrichmentGDF51.46
802AchondroplasiaEnrichmentFGFR31.46
803Brachydactyly, type cEnrichmentGDF51.46
804Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.46
805Larsen syndromeEnrichmentFGFR31.46
806Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.46
807Thyroid carcinoma, familial medullaryEnrichmentNTRK11.46
808Exfoliation syndromeEnrichmentLTBP21.46
809Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.46
810Acromesomelic dysplasia 2aEnrichmentGDF51.46
811Thrombocythemia 1EnrichmentTHPO1.46
812Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.46
813Acromesomelic dysplasia 2cEnrichmentGDF51.46
814Acromesomelic dysplasia 2bEnrichmentGDF51.46
815Mycosis fungoidesEnrichmentTNFRSF1B1.46
816Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.46
817Muscular dystrophy, duchenne typeEnrichmentLTBP41.46
818Transposition of the great arteries, dextro-loopedEnrichmentBMP21.46
819Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.46
820Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.46
821Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.46
822Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.46
823Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.46
824Weill-marchesani syndrome 1EnrichmentLTBP21.46
825Autosomal recessive cutis laxa type iEnrichmentLTBP11.46
826Isolated growth hormone deficiency, type ibEnrichmentGH11.46
827Loeys-dietz syndrome 1EnrichmentTGFBR11.46
828HamartomaEnrichmentFGFR31.46
829Atypical teratoid rhabdoid tumorEnrichmentTP531.46
830Anaplastic astrocytomaEnrichmentTP531.46
831Immunodeficiency 14EnrichmentPIK3R11.46
832Migraine without auraEnrichmentTNF1.46
833Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.46
834High bone mass osteogenesis imperfectaEnrichmentBMP11.46
835Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.46
836Geleophysic dysplasiaEnrichmentLTBP31.46
837Renal cell carcinomaEnrichmentMET1.46
838Testicular cancerEnrichmentFGFR31.46
839Isolated klippel-feil syndromeEnrichmentGDF61.46
840Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.46
841Vogt-koyanagi-harada diseaseEnrichmentFAS1.46
842Saczary syndromeEnrichmentTNFRSF1B1.46
843Anemia, congenital dyserythropoietic, type iiiaEnrichmentRACGAP11.45
844Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.45
845Neutrophilia, hereditaryEnrichmentPIP4K2B1.45
846Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.45
847Albinism, oculocutaneous, type iaEnrichmentNOX41.45
848Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP11.45
849Severe congenital neutropenia 7EnrichmentPIP4K2B1.45
850Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.45
851Immune system diseaseEnrichmentCDC421.45
852B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.45
853Immunodeficiency 72EnrichmentNCKAP11.45
854Type 2 diabetes mellitusEnrichmentIL6, INSR, PPP1R3A1.45
855Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, MYC1.44
856Tetralogy of fallotEnrichmentFLT4, KDR1.43
857Aortic aneurysm, familial thoracic 2EnrichmentACTA21.43
858Deafness, autosomal dominant 20EnrichmentACTG11.43
859Smooth muscle dysfunction syndromeEnrichmentACTA21.43
860Aortic aneurysm, familial thoracic 6EnrichmentACTA21.43
861Baraitser-winter syndrome 2EnrichmentACTG11.43
862Moyamoya disease 5EnrichmentACTA21.43
863Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.43
864Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.43
865Intestinal obstructionEnrichmentACTG21.43
866Ataxia-telangiectasiaEnrichmentATM1.42
867Polycythemia veraEnrichmentATM1.42
868Koolen-de vries syndromeEnrichmentATM1.42
869High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL21.42
870Dedifferentiated liposarcomaEnrichmentMDM21.42
871Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentPERP1.42
872T-cell acute lymphoblastic leukemiaEnrichmentBAX1.42
873Well-differentiated liposarcomaEnrichmentMDM21.42
874Spinocerebellar ataxia 29EnrichmentITPR11.41
875Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.41
876Timothy syndromeEnrichmentCACNA1C1.41
877Ovarian germ cell cancerEnrichmentCBL1.41
878Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.41
879Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.41
880Long qt syndrome 8EnrichmentCACNA1C1.41
881Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.41
882Immunodeficiency 52EnrichmentLAT1.41
883Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.41
884Malignant germ cell tumor of ovaryEnrichmentCBL1.41
885Progressive bulbar palsyEnrichmentCACNA1A1.41
886RetinoblastomaEnrichmentRB11.41
887Dyskeratosis congenita, x-linkedEnrichmentDKC11.41
888Woolly hair, autosomal recessive 3EnrichmentRB11.41
889Hypotrichosis 8EnrichmentRB11.41
890Interstitial lung diseaseEnrichmentTERT1.41
891Macrocytic anemiaEnrichmentTERT1.41
892Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.40
893Angioedema, hereditary, 1EnrichmentPLG1.40
894Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.40
895Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.40
896Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.40
897Bleeding disorder, platelet-type, 24EnrichmentITGB31.40
898Alopecia - intellectual disability syndromeEnrichmentITGB61.40
899Late-onset retinal degenerationEnrichmentPLA2G51.37
900Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.37
901Osteogenesis imperfecta, type viEnrichmentSERPINF11.37
902Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.37
903Brittle bone disorderEnrichmentBMP1, SERPINF11.36
904Sengers syndromeEnrichmentSLC25A41.35
905Deafness, x-linked 5, with peripheral neuropathyEnrichmentAIFM11.35
906X-linked deafness 5EnrichmentAIFM11.35
907Combined oxidative phosphorylation deficiencyEnrichmentAIFM11.35
908Kaposi sarcomaEnrichmentIL61.34
909Isolated growth hormone deficiency, type iiEnrichmentGH11.34
910Thyroid cancer, nonmedullary, 1EnrichmentTP531.34
911Microtia-anotiaEnrichmentBMP51.34
912Glaucoma 3, primary infantile, bEnrichmentLTBP21.34
913Lymphoproliferative syndrome 2EnrichmentXIAP1.34
914Weill-marchesani syndromeEnrichmentLTBP21.34
915Embryonal rhabdomyosarcomaEnrichmentTP531.34
916Aortic aneurysmEnrichmentTGFBR11.34
917Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT1.34
918Cerebral malariaEnrichmentTNF1.34
919Silver-russell syndrome due to a point mutationEnrichmentIGF21.34
920Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.34
921Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.34
922Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.34
923Mccune-albright syndromeEnrichmentGNAS1.33
924Stuve-wiedemann syndrome 1EnrichmentIL6ST1.33
925Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.33
926Melanoma of soft tissueEnrichmentCREB11.33
927Stüve-wiedemann syndromeEnrichmentIL6ST1.33
928Nuchal bleb, familialEnrichmentSOS11.32
929Tethered spinal cord syndromeEnrichmentCREBBP1.32
930Frontometaphyseal dysplasiaEnrichmentMAP3K71.32
931Intraocular pressure quantitative trait locusEnrichmentCREBBP1.32
932Myocardial infarctionEnrichmentITGB3, LTA1.31
933Mantle cell lymphomaEnrichmentATM1.30
934Hemoglobin c diseaseEnrichmentCHEK21.30
935Oculomotor apraxiaEnrichmentATM1.30
936Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK11.30
937Type 1 diabetes mellitus 2EnrichmentINS1.29
938Menkes diseaseEnrichmentEIF2AK31.29
939Heparin cofactor ii deficiencyEnrichmentEIF4G31.29
940Torsion dystonia 1EnrichmentEIF2AK21.29
941Lessel-kreienkamp syndromeEnrichmentAGO21.29
942Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.29
943Lynch syndrome 4EnrichmentRB11.29
944Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.29
945Hereditary ataxiaEnrichmentPRKCG1.29
946Pilocytic astrocytomaEnrichmentKRAS1.29
947Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF21.28
948Developmental and epileptic encephalopathy 65EnrichmentCYFIP21.28
949Amelogenesis imperfecta, type iiiaEnrichmentITGB61.28
950Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.28
951Retinitis pigmentosa 26EnrichmentITGA41.28
952Epidermolytic nevusEnrichmentHRAS1.28
953Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.26
954Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.25
955Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.24
956Rhabdomyosarcoma 2EnrichmentTP531.24
957Rheumatoid arthritis, systemic juvenileEnrichmentIL61.24
958Atrioventricular septal defectEnrichmentBMP51.24
959Congenital heart defects, multiple types, 4EnrichmentBMP71.24
960Pre-eclampsiaEnrichmentFLT11.24
961LymphomaEnrichmentTP531.24
962Acute myeloid leukemia with maturationEnrichmentKIT1.24
963Juvenile glaucomaEnrichmentLTBP21.24
964Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.24
965Vascular dementiaEnrichmentTNF1.24
966Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentKIT1.24
967Diffuse cutaneous systemic sclerosisEnrichmentCCN21.24
968Centronuclear myopathyEnrichmentACTA1, CFL21.24
969Van der woude syndrome 1EnrichmentCACNA1E1.24
970Gillespie syndromeEnrichmentITPR11.24
971Nephrotic syndrome, type 3EnrichmentPLCE11.24
972Primary polycythemiaEnrichmentEPOR1.24
973Thyrotoxic periodic paralysisEnrichmentCACNA1S1.24
974Hereditary episodic ataxiaEnrichmentCACNA1A1.24
9753-methylglutaconic aciduria, type viiiEnrichmentHTRA21.23
976Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentPRPS11.23
977MalariaEnrichmentIKBKG, TNF1.23
978Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentWNK11.21
979Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.21
980Pseudohypoparathyroidism, type ibEnrichmentGNAS1.21
981Auriculocondylar syndrome 1EnrichmentGNAI31.21
982Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.21
983Congenital generalized lipodystrophyEnrichmentFOS1.21
984Hereditary sensory and autonomic neuropathy type 2EnrichmentWNK11.21
985Familial sick sinus syndromeEnrichmentGNB21.21
986Macrocephaly/autism syndromeEnrichmentPTEN1.21
987Follicular lymphomaEnrichmentBCL21.21
988GlioblastomaEnrichmentATM1.21
989HemangiomaEnrichmentPTEN1.21
990Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.21
991Lipodystrophy, familial partial, type 3EnrichmentPPARG1.20
992Carney complex variantEnrichmentPRKAR1A1.20
993Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.20
994Leptin deficiency or dysfunctionEnrichmentPPARG1.20
995Gingival fibromatosisEnrichmentSOS11.20
996Hydrops fetalis, nonimmuneEnrichmentFLT4, HRAS1.20
997Idiopathic aplastic anemiaEnrichmentTERT1.19
998Alzheimer disease 2EnrichmentPLAU1.18
999Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.18
1000Glanzmann thrombasthenia 2EnrichmentITGB31.18
1001Epidermolysis bullosaEnrichmentITGA61.18
1002Aplasia cutis congenitaEnrichmentITGB41.18
1003Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.17
1004Neonatal diabetes mellitusEnrichmentINS1.17
1005CraniopharyngiomaEnrichmentBRAF1.17
1006Newborn respiratory distress syndromeEnrichmentBRAF1.17
1007Glaucoma, primary open angleEnrichmentLTBP21.17
1008Split-hand/foot malformation 1EnrichmentFGFR21.17
1009Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.17
1010Dental anomalies and short statureEnrichmentLTBP31.17
1011Anterior segment dysgenesis 5EnrichmentBMP41.17
1012Mitochondrial dna depletion syndrome 1EnrichmentTYMP1.17
1013Limited sclerodermaEnrichmentCCN21.17
1014Classic ehlers-danlos syndromeEnrichmentTGFBR11.17
1015Cystic fibrosisEnrichmentPLG, TGFB11.16
1016Knobloch syndromeEnrichmentPAK21.16
1017DementiaEnrichmentMAPT1.15
1018Endometrial stromal sarcomaEnrichmentYWHAE1.15
1019Nemaline myopathy 2EnrichmentACTA11.14
1020Aminoacylase 1 deficiencyEnrichmentACTB1.14
1021Intermediate nemaline myopathyEnrichmentACTA11.14
1022Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.14
1023Wilms tumor 5EnrichmentCHEK21.13
1024Clear cell renal cell carcinomaEnrichmentATM1.13
1025Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.12
1026Erythrocytosis, familial, 1EnrichmentEPOR1.12
1027Spinocerebellar ataxia 6EnrichmentCACNA1A1.12
1028Aland island eye diseaseEnrichmentCACNA1F1.12
1029Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.12
1030Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.12
1031Spinocerebellar ataxia 15EnrichmentITPR11.12
1032Barrett esophagusEnrichmentERBB21.12
1033Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.12
1034Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.12
1035Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.12
1036Malignant hyperthermiaEnrichmentCACNA1S1.12
1037Episodic ataxiaEnrichmentCACNA1A1.12
1038Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.12
1039Pulmonary fibrosisEnrichmentTERT1.12
1040Kidney clear cell sarcomaEnrichmentTERT1.12
1041Capillary malformations, congenitalEnrichmentGNA111.11
1042Night blindness, congenital stationary, type 1cEnrichmentGNAT11.11
1043Histiocytoid hemangiomaEnrichmentFOS1.11
1044Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB41.11
1045Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB41.11
1046Rubinstein-taybi syndrome 2EnrichmentEP3001.11
1047Esophageal cancerEnrichmentTP531.10
1048Glaucoma 3, primary congenital, aEnrichmentLTBP21.10
1049Silver-russell syndrome 1EnrichmentIGF21.10
1050Waardenburg syndrome, type 2eEnrichmentKITLG1.10
1051Hereditary hemorrhagic telangiectasiaEnrichmentGDF21.10
1052Common variable immunodeficiencyEnrichmentNFKB11.10
1053Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA1.10
1054Overgrowth syndromeEnrichmentPIK3R11.10
1055Hypophosphatemic ricketsEnrichmentFGF231.10
1056Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA1.10
1057Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, RAF11.10
1058Chondrosarcoma, extraskeletal myxoidEnrichmentTAF151.09
1059Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.08
1060Spastic ataxiaEnrichmentCACNA1G, CACNB4, ITPR11.07
1061MegacolonEnrichmentAKT31.07
1062Spherocytosis, type 1EnrichmentANK11.06
1063Knobloch syndrome 1EnrichmentPAK21.06
1064Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.06
1065Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentSLC25A41.06
1066Moyamoya angiopathyEnrichmentABL11.05
1067Congenital myopathy 3 with rigid spineEnrichmentACTA11.05
1068Coloboma of choroid and retinaEnrichmentACTG11.05
1069Severe congenital nemaline myopathyEnrichmentACTA11.05
1070Arthrogryposis, distal, type 1aEnrichmentMET1.05
1071Isolated growth hormone deficiency, type iaEnrichmentGH11.05
1072Lymphoma, non-hodgkin, familialEnrichmentTP531.05
1073Mitochondrial dna depletion syndrome 4bEnrichmentTYMP1.05
1074Epidermolysis bullosa simplexEnrichmentITGB41.04
1075Melanoma, uvealEnrichmentGNA111.04
1076HypertrichosisEnrichmentCREBBP1.03
1077Episodic ataxia, type 2EnrichmentCACNA1A1.03
1078Heart conduction diseaseEnrichmentCACNA1C1.03
1079AmblyopiaEnrichmentCACNA1F1.03
1080Cardiac arrestEnrichmentCACNA2D11.03
1081Myeloproliferative neoplasmEnrichmentCBL1.03
1082Congenital short qt syndromeEnrichmentCACNA2D11.03
1083Aggressive systemic mastocytosisEnrichmentCBL1.03
1084Fraser syndrome 1EnrichmentGRIP11.01
1085Semantic dementiaEnrichmentMAPT1.01
1086Alzheimer's disease 1EnrichmentAPP1.01
1087Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP1.01
1088StrabismusEnrichmentCACNA1A, GNB11.01
1089Orofacial cleft 1EnrichmentFGF101.00
1090Hypogonadotropic hypogonadismEnrichmentFGFR11.00
1091Congenital central hypoventilation syndromeEnrichmentBDNF1.00
1092Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP1.00
1093Hereditary spherocytosisEnrichmentANK10.99
1094Renal hypodysplasia/aplasia 1EnrichmentITGA80.99
1095Lennox-gastaut syndromeEnrichmentMAPK100.99
1096MyelofibrosisEnrichmentSRC0.98
1097BrachydactylyEnrichmentGNAS0.98
1098DystoniaEnrichmentGNAL, GNB10.98
1099Moyamoya disease 1EnrichmentACTA20.97
1100Intestinal pseudo-obstructionEnrichmentACTG20.97
1101Meier-gorlin syndrome 1EnrichmentFGFR20.95
1102Peters-plus syndromeEnrichmentBMP40.95
1103Ciliary dyskinesia, primary, 3EnrichmentNFKB10.95
1104Stickler syndromeEnrichmentBMP40.95
1105Familial colorectal cancerEnrichmentTP530.95
1106Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.95
1107Primary bone dysplasiaEnrichmentFGFR30.95
1108Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S0.95
1109Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR10.95
1110Childhood absence epilepsyEnrichmentCACNA1H0.95
1111Gastroesophageal refluxEnrichmentRPS6KA30.94
1112Orthostatic intoleranceEnrichmentRPS6KA30.94
1113Long qt syndrome 1EnrichmentCACNA1C, ITPR30.93
1114Connective tissue diseaseEnrichmentACTA2, FGFR30.92
1115Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.92
1116HypothyroidismEnrichmentGNB10.92
1117Choreatic diseaseEnrichmentGNAO10.92
1118PolymicrogyriaEnrichmentAKT30.92
1119Pectus excavatumEnrichmentTGFBR10.91
1120AsthmaEnrichmentTNF0.91
1121Myelodysplastic syndromeEnrichmentTP530.91
1122OsteochondrodysplasiaEnrichmentFGFR30.91
1123Long qt syndromeEnrichmentCACNA1C, CACNA1S0.91
1124Progressive non-fluent aphasiaEnrichmentMAPT0.91
1125Behavioral variant of frontotemporal dementiaEnrichmentMAPT0.91
1126Childhood-onset nemaline myopathyEnrichmentACTA10.91
1127Stroke, ischemicEnrichmentPRKCH0.91
1128Aplastic anemiaEnrichmentTERT0.91
1129Ventricular septal defectEnrichmentRPS6KA30.90
1130Amelogenesis imperfecta, type ieEnrichmentITGB60.90
1131Brugada syndrome 1EnrichmentCACNA2D10.89
1132Permanent neonatal diabetes mellitusEnrichmentINS0.89
1133Systemic lupus erythematosusEnrichmentITGAM, TNF0.88
1134CakutEnrichmentACTG1, GDF60.88
1135Septooptic dysplasiaEnrichmentFGFR10.88
1136Cutis laxaEnrichmentLTBP40.88
1137Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.88
1138Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.88
1139Mosaic variegated aneuploidy syndromeEnrichmentPAK60.87
1140Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.87
1141Cornelia de lange syndrome 1EnrichmentTAF60.85
1142Cornelia de lange syndromeEnrichmentTAF60.85
1143Amelogenesis imperfectaEnrichmentLTBP30.85
1144Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.84
1145Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentEIF3F0.84
1146Coronary heart disease 5EnrichmentIKBKG0.84
1147Alternating hemiplegia of childhoodEnrichmentCACNA1A0.83
1148Difference of sex developmentEnrichmentCACNA1A0.83
1149AchromatopsiaEnrichmentGNAT20.83
1150Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D4, ITGA40.83
1151Frontotemporal dementia 1EnrichmentMAPT0.83
1152Eye diseaseEnrichmentCACNA1F, CACNA2D40.82
1153Chronic granulomatous diseaseEnrichmentNCF20.82
1154Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.82
1155Generalized epilepsy with febrile seizures plusEnrichmentFGF130.82
1156Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.82
1157Leukemia, acute lymphoblasticEnrichmentCDKN2A0.82
1158Mitochondrial myopathyEnrichmentSLC25A40.82
1159West syndromeEnrichmentGNAO1, NTRK20.81
1160Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK0.81
1161Complex neurodevelopmental disorderEnrichmentH4C3, H4C5, H4C9, TAF40.80
1162Movement diseaseEnrichmentGNAO10.79
1163Sensorineural hearing lossEnrichmentAIFM1, HGF0.79
1164Protein-deficiency anemiaEnrichmentNRAS0.79
1165Nephrotic syndrome, type 1EnrichmentPLCE10.79
1166Seckel syndromeEnrichmentATR0.78
1167Early-onset parkinson's diseaseEnrichmentHTRA20.78
1168Heart diseaseEnrichmentABL10.77
1169Cat eye syndromeEnrichmentACTG10.77
1170Nemaline myopathyEnrichmentACTA10.77
1171Isolated macular dystrophyEnrichmentITGA40.76
1172Osteogenesis imperfecta, type ivEnrichmentSERPINF10.76
1173Diabetes mellitusEnrichmentINS0.76
1174Lynch syndromeEnrichmentCHEK20.76
1175Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, HGF, MET0.76
1176Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.75
1177HypertelorismEnrichmentFGFR2, RPS6KA30.74
1178Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentDIABLO, KITLG0.74
1179Beckwith-wiedemann syndromeEnrichmentIGF20.72
1180Human immunodeficiency virus type 1EnrichmentCXCL120.72
1181Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDKC10.72
1182Aortic valve disease 1EnrichmentSOS10.72
1183Migraine with or without aura 1EnrichmentCACNA1A0.71
1184Epilepsy, myoclonic juvenileEnrichmentCACNB40.71
1185Epilepsy, idiopathic generalizedEnrichmentCACNA1H0.71
1186Combined immunodeficiencyEnrichmentZAP700.71
1187Combined t cell and b cell immunodeficiencyEnrichmentZAP700.71
1188Combined t and b cell immunodeficiencyEnrichmentZAP700.71
1189Microphthalmia/coloboma 12EnrichmentRARB0.70
1190OsteoporosisEnrichmentSRC0.70
1191Ehlers-danlos syndromeEnrichmentTGFB20.70
1192Interstitial lung disease 2EnrichmentTERT0.69
1193MyopiaEnrichmentSLC25A40.69
1194Premature menopauseEnrichmentEIF2B20.69
119546,xy partial gonadal dysgenesisEnrichmentSOS10.69
1196Nephrotic syndromeEnrichmentITGA3, PLCE10.69
1197Macs syndromeEnrichmentGDF60.68
1198Cardiac conduction defectEnrichmentCACNA1C0.67
1199Congenital long qt syndromeEnrichmentITPR30.67
1200Heart, malformation ofEnrichmentMAPK10.66
1201Polydactyly, postaxial, type a1EnrichmentEP3000.66
1202Corpus callosum, agenesis ofEnrichmentCREBBP0.66
1203Isolated corpus callosum agenesisEnrichmentCREBBP0.66
1204Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.66
1205Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.65
1206Coloboma of maculaEnrichmentRARB0.65
1207Visceral heterotaxyEnrichmentLEFTY20.64
1208Aortic aneurysm, familial thoracic 1EnrichmentMYLK0.63
1209Congenital nervous system abnormalityEnrichmentFGFR3, GNAO1, GNB50.63
1210Nervous system diseaseEnrichmentFGFR3, GNAO1, GNB50.63
1211Diamond-blackfan anemia 1EnrichmentTP530.62
1212Hypertension, essentialEnrichmentGNB30.62
1213Cleft palate, isolatedEnrichmentGNB10.62
1214Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.60
1215Syndromic intellectual disabilityEnrichmentTAF60.60
1216Anterior segment dysgenesisEnrichmentITPR10.59
1217Skin diseaseEnrichmentITGB40.59
1218LeukodystrophyEnrichmentAIFM10.58
1219Parkinson's diseaseEnrichmentTBP0.56
1220Neuromuscular diseaseEnrichmentACTA10.54
1221Maturity-onset diabetes of the youngEnrichmentINS0.53
1222Parkinson disease, late-onsetEnrichmentMAPT0.53
1223Attention deficit-hyperactivity disorderEnrichmentGNB50.53
1224Congenital myopathyEnrichmentACTA10.52
1225Williams-beuren syndromeEnrichmentLIMK10.52
1226Ear malformationEnrichmentAIFM10.52
1227MicrophthalmiaEnrichmentRARB0.50
1228Peripheral nervous system diseaseEnrichmentNGF0.50
1229NeuropathyEnrichmentNGF0.50
1230Cone dystrophyEnrichmentGNAT20.50
1231Auditory neuropathyEnrichmentAIFM10.49
1232ScoliosisEnrichmentCREBBP0.49
1233Severe covid-19EnrichmentITGAV0.49
1234LissencephalyEnrichmentACTG10.49
1235Focal segmental glomerulosclerosisEnrichmentPLCE10.49
1236Developmental and epileptic encephalopathy 1EnrichmentGNAO10.48
1237Diamond-blackfan anemiaEnrichmentTP530.46
1238Primary ciliary dyskinesiaEnrichmentDRC4, PRKAR1B0.46
1239Mitochondrial diseaseEnrichmentGFER, SLC25A40.43
1240Dilated cardiomyopathyEnrichmentBRAF, RAF10.39
1241Familial hypertrophic cardiomyopathyEnrichmentRAF10.38
1242Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.38
1243Primary autosomal recessive microcephalyEnrichmentTAF130.38
1244Left ventricular noncompactionEnrichmentRAF10.36
1245Genetic steroid-resistant nephrotic syndromeEnrichmentARHGDIA0.32
1246Hypertrophic cardiomyopathyEnrichmentSLC25A40.32
1247Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.32
1248Non-syndromic genetic deafnessEnrichmentACTG10.31
1249Fetal akinesia deformation sequence 1EnrichmentACTA10.30
1250Autism spectrum disorderEnrichmentGNB1, MEF2C0.29
1251MyopathyEnrichmentACTA10.28
1252Distal arthrogryposisEnrichmentACTA10.26
1253Nonsyndromic hearing lossEnrichmentACTG10.26
1254Charcot-marie-tooth diseaseEnrichmentARHGEF100.25
1255Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMAPT0.24
1256Familial isolated dilated cardiomyopathyEnrichmentRAF10.24
1257Optic atrophy plus syndromeEnrichmentCACNA1F0.23
1258Leber plus diseaseEnrichmentGDF60.17
1259AutismEnrichmentCREBBP0.16
1260Rare genetic deafnessEnrichmentACTG10.11
1261Hereditary retinal dystrophyEnrichmentGNAT1, GNAT2, ITGA4, TIMP30.10
1262Fundus dystrophyEnrichmentGNAT1, GNAT2, ITGA4, TIMP30.10
1263Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D40.03

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