Phospholipase-C Pathway

No Pathway Network information available for Phospholipase-C Pathway

Pathways in the Phospholipase-C Pathway SuperPath

#NameSourceGenes
1Phospholipase-C PathwayQIAGEN
(see all 445) (see less)
2PTEN PathwayQIAGEN
(see all 336) (see less)

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

Disorders associated with Phospholipase-C 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, SOS210.66
3Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, COL1A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, TGFB2, TGFB3, TGFBR19.34
4Stickler syndromeEnrichmentBMP4, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, VCAN9.22
5Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS19.13
6Connective tissue diseaseEnrichmentACTA2, COL11A1, COL12A1, COL2A1, COL5A1, COL9A1, COL9A3, EFEMP1, FBN1, FGFR38.52
7Junctional epidermolysis bullosaEnrichmentCOL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC27.76
8Marfan syndromeEnrichmentCOL2A1, FBN1, FBN2, LTBP2, TGFB2, TGFBR17.37
9Epidermolysis bullosa, junctional 1a, intermediateEnrichmentCOL17A1, ITGB4, LAMA3, LAMB3, LAMC27.27
10Junctional epidermolysis bullosa non-herlitz typeEnrichmentCOL17A1, ITGB4, LAMA3, LAMB3, LAMC27.27
11Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A2, TGFBR17.27
12Lung non-small cell carcinomaEnrichmentBRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS7.04
13Nevus, epidermalEnrichmentCOL7A1, FGFR3, HRAS, KRAS, NRAS6.74
14Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF16.74
15Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN2, TGFB26.68
16Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K26.43
17Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K26.43
18Bethlem muscular dystrophyEnrichmentCOL12A1, COL6A1, COL6A2, COL6A36.43
19Lung cancer susceptibility 3EnrichmentACTA2, BRAF, EGFR, FGF10, KRAS, TP536.25
20Ullrich congenital muscular dystrophy 1aEnrichmentCOL12A1, COL6A1, COL6A2, COL6A35.74
21Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A25.27
22Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR3, FRAS1, FREM1, FREM25.21
23Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, HRAS, KIT, TP535.21
24Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS, PTEN4.91
25Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS14.91
26Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS, PTEN4.91
27Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR34.82
28Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS4.82
29Multiple epiphyseal dysplasia due to collagen 9 anomalyEnrichmentCOL9A1, COL9A2, COL9A34.82
30Collagen vi-related dystrophiesEnrichmentCOL6A1, COL6A2, COL6A34.82
31High bone mass osteogenesis imperfectaEnrichmentBMP1, COL1A1, COL1A24.82
32Intermediate collagen vi-related muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A34.82
33Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A54.82
34Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF14.62
35Mccune-albright syndromeEnrichmentCOL2A1, FBN1, GNAS4.46
36T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E4.46
37Loeys-dietz syndromeEnrichmentFBN1, TGFB2, TGFB3, TGFBR14.37
38Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.23
39Autosomal recessive stickler syndromeEnrichmentCOL9A1, COL9A2, COL9A34.23
40GliomaEnrichmentFGFR2, NTRK3, PTEN4.23
41Bladder cancerEnrichmentEGFR, FGFR3, HRAS, KRAS, PTEN, TP534.19
42Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS, NTRK1, NTRK34.19
43Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB2, PLCE14.18
44Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, TIMP34.10
45Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A53.84
46Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A53.84
47Epidermolysis bullosaEnrichmentCOL7A1, ITGA6, LAMB33.84
48HemimegalencephalyEnrichmentAKT3, MTOR, PTEN3.84
49Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A53.84
50Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB3.84
51Familial cerebral saccular aneurysmEnrichmentANGPTL6, COL3A1, TGFBR33.84
52Cutis laxaEnrichmentCOL5A1, EFEMP1, EFEMP2, LTBP43.81
53Skin diseaseEnrichmentCOL17A1, COL7A1, ITGB4, LAMB3, LAMC23.77
54Ovarian cancerEnrichmentAKT1, EGFR, KIT, KRAS, MET, NTRK1, PDGFRA, PTEN, RRAS2, TP533.70
55Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC23.55
56Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG3.55
57Inguinal herniaEnrichmentCOL5A1, EFEMP1, FBN13.55
58KeratoconusEnrichmentCOL1A1, COL4A1, COL5A23.55
59Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB33.55
60Breast adenocarcinomaEnrichmentAKT1, KRAS, TP533.55
61Lung squamous cell carcinomaEnrichmentEGFR, FGFR3, KRAS3.55
62Colorectal cancerEnrichmentAKT1, BRAF, FGFR2, FGFR3, IGF2, MET, NRAS, PIK3R1, TP533.53
63MyopiaEnrichmentCOL11A1, COL2A1, COL4A4, FBN13.39
64Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB23.39
65Bethlem myopathy 1aEnrichmentCOL6A1, COL6A2, COL6A33.31
66Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP533.31
67Intervertebral disc diseaseEnrichmentCOL11A1, COL9A2, COL9A33.31
68Gallbladder cancerEnrichmentBRAF, KRAS, TP533.31
69GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, TP533.27
70Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.27
71Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.27
72Acromicric dysplasiaEnrichmentFBN1, LTBP33.21
73Amelogenesis imperfecta, type iaEnrichmentCOL17A1, LAMB33.21
74Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN13.21
75Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN13.21
76Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL11A2, COL2A13.21
77Dermatofibrosarcoma protuberansEnrichmentCOL1A1, PDGFB3.21
78Cervical cancerEnrichmentFGFR3, TP533.21
79Pulmonic stenosisEnrichmentBRAF, SOS13.21
80Pfeiffer syndromeEnrichmentFGFR1, FGFR23.21
81Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.21
82Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.21
83Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.21
84Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL11A2, COL2A13.21
85Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A23.21
86FibrochondrogenesisEnrichmentCOL11A1, COL11A23.21
87Aortic dissectionEnrichmentCOL3A1, FBN13.21
88Stickler syndrome, type iiEnrichmentCOL11A1, COL1A13.21
89Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.21
90Cervix carcinomaEnrichmentFGFR3, TP533.21
91Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.21
92Interfrontal craniofaciosynostosisEnrichmentFGFR1, FREM13.21
93Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A23.21
94Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentCOL17A1, ITGB43.21
95X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A63.21
96Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, LCK, ZAP703.20
97Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, TP533.17
98Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.07
99Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH13.07
100Multiple sclerosisEnrichmentITGB4, ITPR1, LAMA5, LAMB13.06
101Lung cancerEnrichmentACTA2, BRAF, EGFR, KRAS, MET2.98
102Angioma, tuftedEnrichmentGNA14, KDR2.97
103CakutEnrichmentACTG1, COL4A1, FRAS1, FREM2, GDF62.86
104Amelogenesis imperfecta, type ieEnrichmentCOL17A1, ITGB6, LAMB32.80
105MelanomaEnrichmentBRAF, FBN1, PTEN2.80
106Primary bone dysplasiaEnrichmentCOL1A1, COL1A2, FGFR32.80
107Orthostatic intoleranceEnrichmentCOL5A1, FBN1, RPS6KA32.76
108Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM32.76
109Crouzon syndromeEnrichmentFGFR2, FGFR32.74
110Contractural arachnodactyly, congenitalEnrichmentFBN1, FBN22.74
111AchondroplasiaEnrichmentFBN1, FGFR32.74
112Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A42.74
113Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB32.74
114TelecanthusEnrichmentCOL11A1, COL5A22.74
115Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A22.74
116Weill-marchesani syndrome 1EnrichmentFBN1, LTBP22.74
117Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.74
118Autosomal recessive cutis laxa type iEnrichmentEFEMP2, LTBP12.74
119Testicular germ cell cancerEnrichmentFGFR3, KIT2.74
120SpermatocytomaEnrichmentFGFR3, HRAS2.74
121Geleophysic dysplasiaEnrichmentFBN1, LTBP32.74
122Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS1, PLCH12.71
123OsteochondrodysplasiaEnrichmentCOL1A1, COL1A2, FGFR32.67
124Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A2.65
125Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS2.55
126MeningiomaEnrichmentAKT1, PDGFB, PTEN2.55
127MyopathyEnrichmentACTA1, COL6A1, COL6A2, COL6A3, FBN12.53
128Anastomosing haemangiomaEnrichmentGNA11, GNA142.50
129Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, CD79A, CD79B2.45
130Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A22.45
131Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A22.45
132Brachydactyly, type a2EnrichmentBMP2, GDF52.45
133Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A42.45
134Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP532.45
135Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R22.45
136Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R22.45
137Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.45
138Macular dystrophy, vitelliform, 3EnrichmentIMPG1, IMPG22.45
139Multiple synostoses syndromeEnrichmentGDF5, GDF62.45
140Lung sarcomatoid carcinomaEnrichmentKRAS, TP532.45
141Weill-marchesani syndromeEnrichmentFBN1, LTBP22.45
142Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.45
143Aortic aneurysmEnrichmentFBN1, TGFBR12.45
144Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.45
145Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A42.45
146Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A22.45
147Diaphragmatic hernia, congenitalEnrichmentFBN1, FRAS1, FREM22.45
148Amelogenesis imperfectaEnrichmentCOL17A1, LAMB3, LTBP32.45
149Isolated macular dystrophyEnrichmentCOL4A5, IMPG1, ITGA42.35
150Osteogenesis imperfecta, type iiiEnrichmentBMP1, COL1A1, COL1A22.26
151Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.26
152Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.26
153Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.23
154Macular dystrophy, vitelliform, 2EnrichmentIMPG1, IMPG22.23
155Retinal detachmentEnrichmentCOL2A1, COL9A32.23
156Insulin-like growth factor iEnrichmentIGF1, IGF1R2.23
157Ventricular septal defect 1EnrichmentBMP2, BMP72.23
158HoloprosencephalyEnrichmentFGF8, FGFR12.23
159Juvenile glaucomaEnrichmentEFEMP1, LTBP22.23
160Acute megakaryocytic leukemiaEnrichmentPTEN, TP532.23
161Familial porencephalyEnrichmentCOL4A1, COL4A22.23
162Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB42.21
163Achromatopsia 4EnrichmentGNAI3, GNAT22.21
164RhabdomyosarcomaEnrichmentHRAS, PTEN, TP532.18
165Non-immune hydrops fetalisEnrichmentACTA1, FLT4, HRAS, KRAS2.16
166ScoliosisEnrichmentCOL2A1, CREBBP, EFEMP1, FBN12.14
167Atrial septal defect 1EnrichmentBMP2, TGFB22.07
168Developmental dysplasia of the hip 1EnrichmentCOL2A1, PSMC32.07
169Li-fraumeni syndromeEnrichmentMDM2, TP532.07
170Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A22.07
171Cowden syndrome 1EnrichmentEGFR, PTEN2.07
172Fraser syndrome 1EnrichmentFRAS1, FREM22.07
173Holoprosencephaly 1EnrichmentFGF8, FGFR12.07
174Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB42.07
175Hemangioma, capillary infantileEnrichmentFLT4, KDR2.07
176Anterior segment dysgenesis 5EnrichmentBMP4, COL4A12.07
177Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A22.07
178Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, COL11A1, COL11A2, KITLG, TNC2.04
179Beckwith-wiedemann syndromeEnrichmentCOL6A1, COL7A1, IGF22.03
180Heart, malformation ofEnrichmentCOL11A2, COL2A1, MAPK12.03
181OsteoporosisEnrichmentCOL1A1, COL1A2, SRC2.01
182Diffuse large b-cell lymphomaEnrichmentBRAF, PTEN, TP531.96
183Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A21.93
184Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB31.93
185Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA1.93
186Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K11.93
187Leukemia, chronic myeloidEnrichmentKRAS, NRAS1.93
188Renal cell carcinoma, papillary, 1EnrichmentMET, MTOR1.93
189Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK11.93
190Essential thrombocythemiaEnrichmentTHPO, TP531.93
191Overgrowth syndromeEnrichmentMTOR, PIK3R11.93
192Rare genetic intellectual disabilityEnrichmentCREBBP, EP300, GNAO11.92
193Myeloma, multipleEnrichmentBRAF, FGFR3, KRAS, PIK3R2, TP531.91
194HepatoblastomaEnrichmentCOL7A1, FGFR3, TP531.84
195Melanoma, uvealEnrichmentGNA11, PLCB41.83
196Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3001.83
197Hemihyperplasia, isolatedEnrichmentIGF2, RHOA1.83
198Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3001.83
199Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB1.81
200Hemochromatosis, type 1EnrichmentBMP2, BMP61.81
201Renal hypodysplasia/aplasia 1EnrichmentFRAS1, ITGA81.81
202Lymphoma, non-hodgkin, familialEnrichmentBRAF, TP531.81
203Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR31.80
204Hepatocellular carcinomaEnrichmentIGF2R, MET, TP531.79
205Leukemia, acute myeloidEnrichmentKIT, KRAS, NRAS, TP531.78
206Brittle bone disorderEnrichmentBMP1, COL1A1, COL1A21.73
207Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.71
208Arteriovenous malformationEnrichmentHRAS, MAP2K11.71
209Adult hepatocellular carcinomaEnrichmentEGF, TP531.71
210Primary hyperaldosteronismEnrichmentBRAF, TP531.71
211Cowden syndromeEnrichmentAKT1, PTEN1.71
212Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A1, FBN11.71
213Renal agenesis, bilateralEnrichmentFGF20, ITGA81.71
214MicrocephalyEnrichmentCOL4A1, COL7A1, EP300, GNAO1, GNB1, HDAC8, IGF1R, MAPK1, PLA2G61.70
215Oligoarticular juvenile idiopathic arthritisEnrichmentCD247, IL2RA1.69
216Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD247, IL2RA1.69
217Gastric cancerEnrichmentFGFR2, KRAS, PTEN, TP531.67
218Hereditary breast carcinomaEnrichmentAKT1, KRAS, PTEN, TP531.64
219Peters-plus syndromeEnrichmentBMP4, COL4A11.62
220Stroke, ischemicEnrichmentFBN1, PRKCH1.62
221Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K11.62
222PolymicrogyriaEnrichmentAKT3, PSMC31.62
223Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB31.62
224Stickler syndrome, type iEnrichmentCOL2A11.61
225Bladder diverticulumEnrichmentEFEMP11.61
226Cryptophthalmos, unilateral or bilateral, isolatedEnrichmentFREM21.61
227Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecansEnrichmentACAN1.61
228HypochondroplasiaEnrichmentFGFR31.61
229Proteus syndromeEnrichmentAKT11.61
230Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.61
231Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN11.61
232Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A11.61
233Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A11.61
234Osteoglophonic dysplasiaEnrichmentFGFR11.61
235Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A11.61
236Thanatophoric dysplasia, type iEnrichmentFGFR31.61
237Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.61
238Trigonocephaly 1EnrichmentFGFR11.61
239Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.61
240Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A21.61
241Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A11.61
242Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A11.61
243Spinocerebellar ataxia 27aEnrichmentFGF141.61
244Baraitser-winter syndrome 1EnrichmentACTB1.61
245Oculoectodermal syndromeEnrichmentKRAS1.61
246Muenke syndromeEnrichmentFGFR31.61
247Vacterl association with hydrocephalusEnrichmentPTEN1.61
248Pallister-killian syndromeEnrichmentARAF1.61
249Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.61
250Alport syndrome 1, x-linkedEnrichmentCOL4A51.61
251Type 1 diabetes mellitus 10EnrichmentIL2RA1.61
252Deafness, autosomal recessive 53EnrichmentCOL11A21.61
253Systemic lupus erythematosus 6EnrichmentITGAM1.61
254Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC31.61
255Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A11.61
256Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A11.61
257Noonan syndrome 5EnrichmentRAF11.61
258Hypomagnesemia 4, renalEnrichmentEGF1.61
259Czech dysplasiaEnrichmentCOL2A11.61
260Glaucoma 3, primary congenital, dEnrichmentLTBP21.61
261Microphthalmia, isolated 4EnrichmentGDF61.61
262Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.61
263Noonan syndrome 4EnrichmentSOS11.61
264Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A11.61
265Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.61
266Glaucoma 1, open angle, hEnrichmentEFEMP11.61
267Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.61
268Deafness, autosomal recessive 39EnrichmentHGF1.61
269Corneal dystrophy, posterior polymorphous, 2EnrichmentCOL8A21.61
270Mastocytosis, cutaneousEnrichmentKIT1.61
271Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.61
272Marshall syndromeEnrichmentCOL11A11.61
273Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.61
274Melorheostosis, isolatedEnrichmentMAP2K11.61
275Kniest dysplasiaEnrichmentCOL2A11.61
276Noonan syndrome 7EnrichmentBRAF1.61
277Leopard syndrome 3EnrichmentBRAF1.61
278Apert syndromeEnrichmentFGFR21.61
279Cardiomyopathy, dilated, 1jjEnrichmentLAMA41.61
280Transient bullous dermolysis of the newbornEnrichmentCOL7A11.61
281Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.61
282Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.61
283Corneal dystrophy, fuchs endothelial, 1EnrichmentCOL8A21.61
284Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A11.61
285Cardiomyopathy, dilated, 1nnEnrichmentRAF11.61
286Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A11.61
287Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.61
288Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.61
289Myofibromatosis, infantile, 1EnrichmentPDGFRB1.61
290Fibrochondrogenesis 1EnrichmentCOL11A11.61
291Melanosis, neurocutaneousEnrichmentNRAS1.61
292Lipoid proteinosis of urbach and wietheEnrichmentECM11.61
293Thanatophoric dysplasia, type iiEnrichmentFGFR31.61
294Noonan syndrome 9EnrichmentSOS21.61
295Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A11.61
296Myopathy, scapulohumeroperonealEnrichmentACTA11.61
297Noonan syndrome 6EnrichmentNRAS1.61
298Lissencephaly 5EnrichmentLAMB11.61
299Weill-marchesani syndrome 2EnrichmentFBN11.61
300Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.61
301Retinitis pigmentosa 56EnrichmentIMPG21.61
302Ciliary dyskinesia, primary, 33EnrichmentDRC41.61
303Deafness, autosomal dominant 56EnrichmentTNC1.61
304Gist-plus syndromeEnrichmentPDGFRA1.61
305Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.61
306Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.61
307Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.61
308Geleophysic dysplasia 2EnrichmentFBN11.61
309Accelerated tumor formationEnrichmentMDM21.61
310Protrusio acetabuliEnrichmentFBN11.61
311Aplasia of lacrimal and salivary glandsEnrichmentFGF101.61
312Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.61
313Bent bone dysplasia syndrome 1EnrichmentFGFR21.61
314Acrogeria, gottron typeEnrichmentCOL3A11.61
315Epiphyseal dysplasia, multiple, 6EnrichmentCOL9A11.61
316Weill-marchesani syndrome 3EnrichmentLTBP21.61
317Achondrogenesis, type iiEnrichmentCOL2A11.61
318Noonan syndrome 11EnrichmentMRAS1.61
319Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.61
320Noonan syndrome 13EnrichmentMAPK11.61
321Macular degeneration, early-onsetEnrichmentFBN21.61
322Macular dystrophy, vitelliform, 4EnrichmentIMPG11.61
323Fraser syndrome 2EnrichmentFREM21.61
324Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.61
325Nephrotic syndrome, type 26EnrichmentLAMA51.61
326Developmental and epileptic encephalopathy 58EnrichmentNTRK21.61
327Multiple synostoses syndrome 4EnrichmentGDF61.61
328Myasthenic syndrome, congenital, 19EnrichmentCOL13A11.61
329Deafness, x-linked 6EnrichmentCOL4A61.61
330Intellectual developmental disorder, x-linked 110EnrichmentFGF131.61
331Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.61
332Epiphyseal dysplasia, multiple, 2EnrichmentCOL9A21.61
333Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.61
334Lessel-kubisch syndromeEnrichmentMDM21.61
335Ullrich congenital muscular dystrophy 1bEnrichmentCOL6A21.61
336Hyperemesis gravidarumEnrichmentGDF151.61
337Cutis laxa, autosomal recessive, type idEnrichmentEFEMP11.61
338Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.61
339Deafness, autosomal recessive 125EnrichmentGAS21.61
340Short syndromeEnrichmentPIK3R11.61
341Bone marrow failure syndrome 5EnrichmentTP531.61
342Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.61
343Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A21.61
344Hereditary lymphedema idEnrichmentVEGFC1.61
345Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.61
346Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.61
347Osteofibrous dysplasiaEnrichmentMET1.61
348Complete cryptophthalmiaEnrichmentFREM21.61
349Papilloma of choroid plexusEnrichmentTP531.61
350Microphthalmia, syndromic 6EnrichmentBMP41.61
351Spondyloperipheral dysplasiaEnrichmentCOL2A11.61
352Myosclerosis, autosomal recessiveEnrichmentCOL6A21.61
353Basal cell carcinoma 7EnrichmentTP531.61
354PorencephalyEnrichmentCOL4A11.61
355Ullrich congenital muscular dystrophy 1cEnrichmentCOL6A31.61
356Deafness, autosomal dominant 37EnrichmentCOL11A11.61
357Lymphoplasmacytic lymphomaEnrichmentFBN11.61
358Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.61
359Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.61
360Anaplastic thyroid carcinomaEnrichmentTP531.61
361Developmental and epileptic encephalopathy 90EnrichmentFGF131.61
362Orofacial cleft 11EnrichmentBMP41.61
363Metacarpal 4-5 fusionEnrichmentFGF161.61
364Epiphyseal dysplasia, multiple, 3EnrichmentCOL9A31.61
365Lymphatic malformation 4EnrichmentVEGFC1.61
366Papillary tumor of the pineal regionEnrichmentPTEN1.61
367Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.61
368Familial isolated trichomegalyEnrichmentFGF51.61
369Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.61
370Spondyloepimetaphyseal dysplasia, aggrecan typeEnrichmentACAN1.61
371Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.61
372Deafness, autosomal dominant 13EnrichmentCOL11A21.61
373Deafness, autosomal recessive 97EnrichmentMET1.61
374Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.61
375LymphangiomaEnrichmentBRAF1.61
376Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.61
377Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.61
378Camurati-engelmann disease 2EnrichmentTGFB21.61
379Geleophysic dysplasia 3EnrichmentLTBP31.61
380Spondyloepiphyseal dysplasia, kimberley typeEnrichmentACAN1.61
381Phace associationEnrichmentBRAF1.61
382Spinocerebellar ataxia 14EnrichmentPRKCG1.61
383Epidermolysis bullosa pruriginosaEnrichmentCOL7A11.61
384Becker nevus syndromeEnrichmentACTB1.61
385MelorheostosisEnrichmentMAP2K11.61
386Dystonia-deafness syndrome 1EnrichmentACTB1.61
387Autism 9EnrichmentMET1.61
388Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A11.61
389Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.61
390Leopard syndrome 2EnrichmentRAF11.61
391Stickler syndrome, type ivEnrichmentCOL9A11.61
392Glaucoma 1, open angle, oEnrichmentNTF41.61
393Cortical malformations, occipitalEnrichmentLAMC31.61
394Iron overloadEnrichmentBMP61.61
395Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.61
396Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.61
397Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.61
398Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.61
399Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.61
400Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.61
401Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.61
402Leber congenital amaurosis 17EnrichmentGDF61.61
403Cowden syndrome 6EnrichmentAKT11.61
404Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.61
405Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.61
406Fibrochondrogenesis 2EnrichmentCOL11A21.61
407Dystonia 27EnrichmentCOL6A31.61
408Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.61
409Autosomal dominant familial visceral neuropathyEnrichmentACTG21.61
410Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.61
411Thyroid gland diseaseEnrichmentCOL7A11.61
412Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.61
413Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.61
414Glioma susceptibility 2EnrichmentPTEN1.61
415Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.61
416Ductal carcinoma in situEnrichmentTP531.61
417Kosaki overgrowth syndromeEnrichmentPDGFRB1.61
418Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.61
419Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.61
420Stickler syndrome, type vEnrichmentCOL9A21.61
421Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.61
422Hartsfield syndromeEnrichmentFGFR11.61
423Congenital heart defects, multiple types, 7EnrichmentFLT41.61
424Loeys-dietz syndrome 5EnrichmentTGFB31.61
425Renal hypodysplasia/aplasia 2EnrichmentFGF201.61
426Macular dystrophy, vitelliform, 5EnrichmentIMPG21.61
42720p12.3 microdeletion syndromeEnrichmentBMP21.61
428Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.61
429Takenouchi-kosaki syndromeEnrichmentCDC421.61
430Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.61
431Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.61
432Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.61
433Qualitative or quantitative defects of collagen 6EnrichmentCOL6A21.61
434Developmental and epileptic encephalopathy 47EnrichmentFGF121.61
435Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.61
436Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.61
437Chronic mast cell leukemiaEnrichmentKIT1.61
438Premature ovarian failure 14EnrichmentGDF91.61
439TrigonitisEnrichmentRAF11.61
440Bent bone dysplasia syndrome 2EnrichmentLAMA51.61
441Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A11.61
442Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A11.61
443Thyroid gland undifferentiated carcinomaEnrichmentTP531.61
444Tufted angioma of skinEnrichmentKDR1.61
445Asphyxia neonatorumEnrichmentCOL1A11.61
446Deafness, autosomal dominant 69EnrichmentKITLG1.61
447Bethlem myopathy 1bEnrichmentCOL6A21.61
448Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.61
449Thrombocytopenia 9EnrichmentTHPO1.61
450Fibrosis of extraocular muscles, congenital, 5EnrichmentCOL25A11.61
451Arthrogryposis, distal, type 11EnrichmentMET1.61
452Amelogenesis imperfecta, type ihEnrichmentITGB61.61
453Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.61
454Baraitser-winter syndromeEnrichmentACTB1.61
455Late-onset junctional epidermolysis bullosaEnrichmentCOL17A11.61
456Col4a1-related disordersEnrichmentCOL4A11.61
457Occipital pachygyria and polymicrogyriaEnrichmentLAMC31.61
458Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.61
459Bethlem myopathy 1cEnrichmentCOL6A31.61
460Retinal lattice degenerationEnrichmentCOL9A31.61
461Capillary hemangiomaEnrichmentAKT31.61
462Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.61
463Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.61
464Anus diseaseEnrichmentFREM21.61
465Isolated bone marrow mastocytosisEnrichmentKIT1.61
466Congenital pulmonary airway malformationEnrichmentKRAS1.61
467Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A11.61
468Smoldering systemic mastocytosisEnrichmentKIT1.61
469Choroid plexus cancerEnrichmentTP531.61
470Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.61
471Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A11.61
472Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A11.61
473Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.61
474Zebra body myopathyEnrichmentACTA11.61
475Spinocerebellar ataxia type 27bEnrichmentFGF141.61
476HypochondrogenesisEnrichmentCOL2A11.61
477Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.61
478Fgfr3-related chondrodysplasiaEnrichmentFGFR31.61
479Congenital smooth muscle hamartomaEnrichmentACTB1.61
480X-linked alport syndromeEnrichmentCOL4A51.61
481PneumothoraxEnrichmentCOL5A11.61
482Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.61
483Nocarh syndromeEnrichmentCDC421.61
484MastocytosisEnrichmentKIT1.61
485Congenital primary lymphedema of gordonEnrichmentVEGFC1.61
486Syringocystadenoma papilliferumEnrichmentBRAF1.61
487Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A11.61
488Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.61
489Osteochondritis dissecansEnrichmentACAN1.61
490Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.61
491Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeEnrichmentCOL11A11.61
492Familial progressive hyperpigmentationEnrichmentKITLG1.61
493DysspondyloenchondromatosisEnrichmentCOL2A11.61
494Cystic lymphangiomaEnrichmentCOL11A21.61
495Pleomorphic xanthoastrocytomaEnrichmentTP531.61
496GangliogliomaEnrichmentBRAF1.61
497Abdominal aortic aneurysmEnrichmentCOL3A11.61
498Cutaneous mastocytomaEnrichmentKIT1.61
499Nongerminomatous germ cell tumorEnrichmentBRAF1.61
500Lethal arteriopathy syndrome due to fibulin-4 deficiencyEnrichmentEFEMP21.61
501Phace syndromeEnrichmentBRAF1.61
502Neonatal marfan syndromeEnrichmentFBN11.61
503Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A11.61
504Typical urticaria pigmentosaEnrichmentKIT1.61
505Phakomatosis pigmentokeratoticaEnrichmentHRAS1.61
506Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.61
507Actin-accumulation myopathyEnrichmentACTA11.61
508Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.61
509Classic hairy cell leukemiaEnrichmentBRAF1.61
510Nodular urticaria pigmentosaEnrichmentKIT1.61
511Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.61
512Type 2 collagen-related bone disorderEnrichmentCOL2A11.61
513Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.61
514Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.61
515Lama5-related multisystemic syndromeEnrichmentLAMA51.61
516Telangiectasia macularis eruptiva perstansEnrichmentKIT1.61
517Acute mast cell leukemiaEnrichmentKIT1.61
518Myopathic intestinal pseudoobstructionEnrichmentACTG21.61
519Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.61
520Short stature-advanced bone age-early-onset osteoarthritis syndromeEnrichmentACAN1.61
521CryptophthalmiaEnrichmentFREM21.61
522Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.61
523Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.61
524Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.61
525Plaque-form urticaria pigmentosaEnrichmentKIT1.61
526Interstitial lung disease specific to childhoodEnrichmentFGF101.61
527Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A11.61
528Neurocutaneous melanocytosisEnrichmentNRAS1.61
529Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.61
530Actg2 visceral myopathyEnrichmentACTG21.61
531Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA21.61
532Akt2-related familial partial lipodystrophyEnrichmentAKT21.61
533Testis seminomaEnrichmentKIT1.61
534Hydrops fetalis, nonimmuneEnrichmentACTA1, FLT4, HRAS1.59
535Gastroesophageal refluxEnrichmentCOL5A1, RPS6KA31.58
536Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A1, GNAS1.58
537Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A5, PLCE11.58
538HypertelorismEnrichmentCOL11A1, COL1A1, ELN, FGFR2, RPS6KA31.56
539Pectus excavatumEnrichmentFBN1, TGFBR11.54
540Meningioma, familialEnrichmentPDGFB, PTEN1.54
541Presynaptic congenital myasthenic syndromesEnrichmentCOL13A1, LAMA51.54
542Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.48
543Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.48
544Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC61.48
545Coffin-lowry syndromeEnrichmentRPS6KA31.48
546Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.48
547Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.48
548Pseudohypoparathyroidism, type icEnrichmentGNAS1.48
549Osseous heteroplasia, progressiveEnrichmentGNAS1.48
550Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.48
551Cardiac valvular dysplasia 1EnrichmentPLD11.48
552Fleck retina, familial benignEnrichmentPLA2G51.48
553Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.48
554Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.48
555Deafness, autosomal recessive 44EnrichmentADCY11.48
556Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A1.48
557Ventricular tachycardia, familialEnrichmentGNAI21.48
558Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.48
559Immunodeficiency 62EnrichmentARHGEF11.48
560Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.48
561Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.48
562Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.48
563Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.48
564Immunodeficiency 81EnrichmentLCP21.48
565Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.48
566Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.48
567Pituitary adenoma 3, multiple typesEnrichmentGNAS1.48
568Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.48
569Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.48
570Auriculocondylar syndrome 4EnrichmentHDAC91.48
571Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.48
572Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.48
573Cornelia de lange syndrome 5EnrichmentHDAC81.48
574Immunodeficiency 48EnrichmentZAP701.48
575Auriculocondylar syndrome 2aEnrichmentPLCB41.48
576Isolated growth hormone deficiency type iiiEnrichmentBTK1.48
577Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.48
578Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.48
579Immunodeficiency 18EnrichmentCD3E1.48
580Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.48
581Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.48
582Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.48
583Developmental and epileptic encephalopathy 17EnrichmentGNAO11.48
584Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.48
585Immunodeficiency 25EnrichmentCD2471.48
586Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.48
587Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.48
588Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A1.48
589Lymphoproliferative syndrome 1EnrichmentITK1.48
590Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.48
591Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.48
592Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.48
593Dystonia 25EnrichmentGNAL1.48
594Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.48
595Night blindness, congenital stationary, type 1gEnrichmentGNAT11.48
596Long qt syndrome 16EnrichmentCALM31.48
597Hypocalcemia, autosomal dominant 2EnrichmentGNA111.48
598Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.48
599Disorders of gnas inactivationEnrichmentGNAS1.48
600Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.48
601Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G71.48
602Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.48
603Immunodeficiency 22EnrichmentLCK1.48
604Thrombocytopenia 6EnrichmentSRC1.48
605Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.48
606Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.48
607Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.48
608Holoprosencephaly 14EnrichmentPLCH11.48
609Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.48
610Sick sinus syndrome 4EnrichmentGNB21.48
611Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.48
612Menke-hennekam syndrome 1EnrichmentCREBBP1.48
613Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.48
614Immunodeficiency 129EnrichmentRHOH1.48
615Auriculocondylar syndrome 2bEnrichmentPLCB41.48
616Immunodeficiency 19, severe combinedEnrichmentCD3D1.48
617Long qt syndrome 15EnrichmentCALM21.48
618Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.48
619Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.48
620T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.48
621Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.48
622ColitisEnrichmentSYK1.48
6235q14.3 microdeletion syndromeEnrichmentMEF2C1.48
624Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.48
625Agammaglobulinemia 3EnrichmentCD79A1.48
626Immunodeficiency 19EnrichmentCD3D1.48
627Menke-hennekam syndromeEnrichmentCREBBP1.48
628Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.48
629Monostotic fibrous dysplasiaEnrichmentGNAS1.48
630Gnao1-related disorderEnrichmentGNAO11.48
631Mef2c-related disorderEnrichmentMEF2C1.48
632Phakomatosis cesiomarmorataEnrichmentGNA111.48
633Kaposiform hemangioendotheliomaEnrichmentGNA141.48
634Mazabraud syndromeEnrichmentGNAS1.48
635Familial benign flecked retinaEnrichmentPLA2G51.48
636Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT51.48
637Zap70-related severe combined immunodeficiencyEnrichmentZAP701.48
638Cornelia de lange syndrome 1EnrichmentHDAC8, SMC31.48
639Cornelia de lange syndromeEnrichmentHDAC8, SMC31.48
640Systemic lupus erythematosusEnrichmentFCGR2A, FCGR2B, ITGAM, SPP11.42
641Cerebral palsyEnrichmentCOL4A1, COL4A2, GNB1, PDGFRB1.42
642Breast cancerEnrichmentAKT1, IL2, KRAS, PTEN, TP531.42
643Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A21.40
644Chromosome 1p36 deletion syndromeEnrichmentHSPG2, PRKCZ1.40
645Chronic kidney diseaseEnrichmentCOL4A4, COL4A51.40
646Aortic aneurysm, familial thoracic 1EnrichmentCOL3A1, FBN11.34
647CataractEnrichmentCOL18A1, COL5A11.34
648Cleft lip/palateEnrichmentBMP4, PDGFRA1.34
649Hereditary breast ovarian cancer syndromeEnrichmentBCAR1, KRAS, PTEN, TP531.33
650Dilated cardiomyopathyEnrichmentACTA1, BRAF, FBN1, LAMA2, RAF11.32
651Specific learning disabilityEnrichmentMAPK1, RPS6KA31.31
652Cri-du-chat syndromeEnrichmentSEMA5A1.31
653Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A11.31
654Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A11.31
655Lymphatic malformation 1EnrichmentFLT41.31
656Amelogenesis imperfecta, type ibEnrichmentCOL17A11.31
657Leukocyte adhesion deficiency, type iEnrichmentITGB21.31
658Cutis laxa, autosomal dominant 1EnrichmentELN1.31
659Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A11.31
660Sorsby fundus dystrophyEnrichmentTIMP31.31
661Wagner vitreoretinopathyEnrichmentVCAN1.31
662Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.31
663Fibromatosis, gingival, 1EnrichmentSOS11.31
664Metaphyseal chondrodysplasia, schmid typeEnrichmentCOL10A11.31
665Adrenocortical carcinoma, hereditaryEnrichmentTP531.31
666Camurati-engelmann disease 1EnrichmentTGFB11.31
667Costello syndromeEnrichmentHRAS1.31
668Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.31
669Manitoba oculotrichoanal syndromeEnrichmentFREM11.31
670TrichomegalyEnrichmentFGF51.31
671Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA31.31
672Bruck syndrome 1EnrichmentCOL1A21.31
673Stiff skin syndromeEnrichmentFBN11.31
674Intracranial hypertension, idiopathicEnrichmentFLT41.31
675Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentPRG41.31
676Kyphomelic dysplasiaEnrichmentCCN21.31
677Omodysplasia 1EnrichmentGPC61.31
678Myasthenic syndrome, congenital, 5EnrichmentLAMB21.31
679Pulmonary hypoplasia, primaryEnrichmentFGF101.31
680Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.31
681Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.31
682Bifid nose with or without anorectal and renal anomaliesEnrichmentFREM11.31
683Loeys-dietz syndrome 2EnrichmentTGFBR11.31
684Parkinson disease 8, autosomal dominantEnrichmentGDF61.31
685Aortic aneurysm, familial thoracic 2EnrichmentACTA21.31
686Doyne honeycomb retinal dystrophyEnrichmentEFEMP11.31
687Piebald traitEnrichmentKIT1.31
688Aural atresia, congenitalEnrichmentFGFR21.31
689Legg-calve-perthes diseaseEnrichmentCOL2A11.31
690Deafness, autosomal dominant 20EnrichmentACTG11.31
691Keratosis, seborrheicEnrichmentFGFR31.31
692Multiple synostoses syndrome 2EnrichmentGDF51.31
693Smooth muscle dysfunction syndromeEnrichmentACTA21.31
694Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.31
695Lissencephaly 1EnrichmentLAMB11.31
696Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.31
697Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.31
698Aortic aneurysm, familial thoracic 6EnrichmentACTA21.31
699Epithelial recurrent erosion dystrophyEnrichmentCOL17A11.31
700Baraitser-winter syndrome 2EnrichmentACTG11.31
701Specific language impairment 5EnrichmentCOL4A41.31
702Silver-russell syndrome 3EnrichmentIGF21.31
703Osteogenesis imperfecta, type xiiiEnrichmentBMP11.31
704Beaulieu-boycott-innes syndromeEnrichmentFBN11.31
705Moyamoya disease 5EnrichmentACTA21.31
706Pierson syndromeEnrichmentLAMB21.31
707Lymphoma, hodgkin, classicEnrichmentTP531.31
708Schwartz-jampel syndrome, type 1EnrichmentHSPG21.31
709Brachydactyly, type a1, cEnrichmentGDF51.31
710Symphalangism, proximal, 1bEnrichmentGDF51.31
711Supravalvular aortic stenosisEnrichmentELN1.31
712Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.31
713Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.31
714Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.31
715Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A21.31
716Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A11.31
717Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC21.31
718Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC21.31
719Epidermolysis bullosa, junctional 4, intermediateEnrichmentCOL17A11.31
720Waardenburg syndrome, type 2fEnrichmentKITLG1.31
721Stickler syndrome, type viEnrichmentCOL9A31.31
722Fibromuscular dysplasia, multifocalEnrichmentCOL5A11.31
723Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.31
724Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA31.31
725Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.31
726Birk-aharoni syndromeEnrichmentPSMC11.31
727Noonan syndrome 12EnrichmentRRAS21.31
728Cebalid syndromeEnrichmentMTOR1.31
729Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A11.31
730Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.31
731Kowarski syndromeEnrichmentGH11.31
732Infantile myofibromatosisEnrichmentPDGFRB1.31
733Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.31
734Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB21.31
735Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.31
736Childhood hepatocellular carcinomaEnrichmentMET1.31
737Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A11.31
738Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN11.31
739Senior-loken syndrome 7EnrichmentAKT31.31
740Split hand-foot malformationEnrichmentFGFR21.31
741Rosette-forming glioneuronal tumorEnrichmentFGFR11.31
742Optic disk drusenEnrichmentEFEMP11.31
743Papillary renal cell carcinomaEnrichmentMET1.31
744Congenital mesoblastic nephromaEnrichmentNTRK31.31
745Camurati-engelmann diseaseEnrichmentTGFB11.31
746Congenital fibrosarcomaEnrichmentTP531.31
747GlomerulonephritisEnrichmentCOL4A41.31
748Li-fraumeni syndrome 1EnrichmentTP531.31
749SarcomaEnrichmentTP531.31
750Microphthalmia/coloboma 6EnrichmentGDF61.31
751Glaucoma, primary closed-angleEnrichmentCOL18A11.31
752Trigonocephaly 2EnrichmentFREM11.31
753Steel syndromeEnrichmentCOL27A11.31
754Familial avascular necrosis of the femoral headEnrichmentCOL2A11.31
755Immune system diseaseEnrichmentCDC421.31
756Hodgkin's lymphomaEnrichmentTP531.31
757FibrosarcomaEnrichmentNTRK31.31
758Bardet-biedl syndrome 16EnrichmentAKT31.31
759Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA31.31
760Cataract 16, multiple typesEnrichmentCOL12A11.31
761Proximal symphalangismEnrichmentGDF51.31
762Smith-kingsmore syndromeEnrichmentMTOR1.31
763Hereditary lymphedema iEnrichmentFLT41.31
764Craniosynostosis 7EnrichmentBMP21.31
765Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.31
766Short stature due to growth hormone qualitative anomalyEnrichmentGH11.31
767Wagner diseaseEnrichmentVCAN1.31
768Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.31
769Chronic eosinophilic leukemiaEnrichmentPDGFRA1.31
770Vacterl with hydrocephalusEnrichmentPTEN1.31
771Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.31
772Dentinogenesis imperfectaEnrichmentCOL1A21.31
773Epidermolysis bullosa dystrophicaEnrichmentCOL7A11.31
774B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.31
775B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.31
776Juvenile polyposis of infancyEnrichmentPTEN1.31
777Lens subluxationEnrichmentFBN11.31
778Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.31
779Pleomorphic rhabdomyosarcomaEnrichmentTP531.31
780Tafro syndromeEnrichmentMAP2K21.31
781Intestinal obstructionEnrichmentACTG21.31
782Wooly hair nevusEnrichmentHRAS1.31
783Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.31
784Renal cell carcinoma, nonpapillaryEnrichmentMET, MTOR1.28
785Wilms tumor 1EnrichmentBRAF, IGF21.28
786Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, ITGA71.28
787HydrocephalusEnrichmentFGFR2, PDGFRB1.28
788Primary ovarian insufficiencyEnrichmentBMP6, IGF2R, KDR, NTRK11.24
789HypertensionEnrichmentCOL4A4, COL4A51.23
790Spinocerebellar ataxia 29EnrichmentITPR11.19
791Pseudohypoparathyroidism, type iaEnrichmentGNAS1.19
792Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.19
793Cutis marmorata telangiectatica congenitaEnrichmentGNA111.19
794Thumb deformityEnrichmentCREBBP1.19
795Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.19
796Histiocytoma, angiomatoid fibrousEnrichmentCREB11.19
797Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.19
798PseudopseudohypoparathyroidismEnrichmentGNAS1.19
799Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK1.19
800Agammaglobulinemia 6, autosomal recessiveEnrichmentCD79B1.19
801Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD31.19
802Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.19
803Lethal congenital contracture syndrome 8EnrichmentADCY61.19
804Night blindness, congenital stationary, type 1hEnrichmentGNB31.19
805Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.19
806Syndactyly, type iiiEnrichmentHDAC81.19
807Long qt syndrome 14EnrichmentCALM11.19
808Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.19
809Agammaglobulinemia, x-linkedEnrichmentBTK1.19
810Menke-hennekam syndrome 2EnrichmentEP3001.19
811Spinocerebellar ataxia 46EnrichmentPLD31.19
812Wilson-turner syndromeEnrichmentHDAC81.19
813Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.19
814Lymphoproliferative syndromeEnrichmentITK1.19
815Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.19
816Agammaglobulinemia 4EnrichmentBLNK1.19
817Agammaglobulinemia 6EnrichmentCD79B1.19
818Autosomal dominant hypocalcemiaEnrichmentGNA111.19
819PseudohypoparathyroidismEnrichmentGNAS1.19
820Body mass index quantitative trait locus 19EnrichmentADCY31.19
821Ocular melanomaEnrichmentPLCB41.19
822Immunodeficiency 17EnrichmentCD3G1.19
823HypopituitarismEnrichmentGNAI21.19
824Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.19
825Immunodeficiency 52EnrichmentLAT1.19
826Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.19
827Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.19
828Charcot-marie-tooth disease type 4fEnrichmentPLD31.19
829ArthritisEnrichmentSYK1.19
830Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.19
831Common variable immunodeficiency 12EnrichmentNFKB11.19
832Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.19
833Cerebral visual impairmentEnrichmentGNB11.19
834Phakomatosis cesioflammeaEnrichmentGNA111.19
835Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.19
836ThrombocytopeniaEnrichmentITGA2B, ITGB3, SRC, THPO1.14
837Brachydactyly, type a1EnrichmentGDF51.14
838Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.14
839Brachydactyly, type cEnrichmentGDF51.14
840Retinal arteries, tortuosity ofEnrichmentCOL4A11.14
841Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.14
842Larsen syndromeEnrichmentFGFR31.14
843Palmoplantar keratoderma, punctate type iaEnrichmentCOL14A11.14
844Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.14
845Thyroid carcinoma, familial medullaryEnrichmentNTRK11.14
846Ataxia-telangiectasiaEnrichmentBRAF1.14
847Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A11.14
848Exfoliation syndromeEnrichmentLTBP21.14
849Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.14
850Acromesomelic dysplasia 2aEnrichmentGDF51.14
851Thrombocythemia 1EnrichmentTHPO1.14
852Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.14
853Acromesomelic dysplasia 2cEnrichmentGDF51.14
854MegalocorneaEnrichmentCOL11A11.14
855Acromesomelic dysplasia 2bEnrichmentGDF51.14
856Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG21.14
857Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.14
858Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A11.14
859Hypophosphatasia, infantileEnrichmentCOL11A21.14
860Glomerulopathy with fibronectin deposits 2EnrichmentFN11.14
861Nuchal bleb, familialEnrichmentSOS11.14
862Muscular dystrophy, duchenne typeEnrichmentLTBP41.14
863Osteogenic sarcomaEnrichmentTP531.14
864Transposition of the great arteries, dextro-loopedEnrichmentBMP21.14
865Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA21.14
866Nasopharyngeal carcinomaEnrichmentTP531.14
867Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.14
868Caffey diseaseEnrichmentCOL1A11.14
869Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.14
870Brain small vessel disease 2EnrichmentCOL4A21.14
871Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.14
872Ullrich congenital muscular dystrophy 2EnrichmentCOL12A11.14
873Bethlem myopathy 2EnrichmentCOL12A11.14
874Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.14
875Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.14
876Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.14
877Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.14
878Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.14
879Pilarowski-bjornsson syndromeEnrichmentCOL4A31.14
880Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.14
881Tethered spinal cord syndromeEnrichmentBRAF1.14
882Cutis laxa, autosomal recessive, type ibEnrichmentEFEMP21.14
883Dedifferentiated liposarcomaEnrichmentMDM21.14
884Poretti-boltshauser syndromeEnrichmentLAMA11.14
885Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.14
886Isolated ectopia lentisEnrichmentFBN11.14
887Autosomal dominant cutis laxaEnrichmentELN1.14
888Isolated growth hormone deficiency, type ibEnrichmentGH11.14
889Loeys-dietz syndrome 1EnrichmentTGFBR11.14
890HamartomaEnrichmentFGFR31.14
891Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.14
892Atypical teratoid rhabdoid tumorEnrichmentTP531.14
893Anaplastic astrocytomaEnrichmentTP531.14
894Immunodeficiency 14EnrichmentPIK3R11.14
895Squamous cell carcinomaEnrichmentTP531.14
896AdenocarcinomaEnrichmentTP531.14
897Hematuria, benign familial, 2EnrichmentCOL4A31.14
898Laryngeal squamous cell carcinomaEnrichmentPTEN1.14
899Bone osteosarcomaEnrichmentTP531.14
900Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.14
901Bleeding disorder, platelet-type, 24EnrichmentITGB31.14
902Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.14
903Well-differentiated liposarcomaEnrichmentMDM21.14
904Alopecia - intellectual disability syndromeEnrichmentITGB61.14
905Renal cell carcinomaEnrichmentMET1.14
906Multiple epiphyseal dysplasiaEnrichmentCOL2A11.14
907Thyroid hemiagenesisEnrichmentPSMD31.14
908Testicular cancerEnrichmentFGFR31.14
909Isolated klippel-feil syndromeEnrichmentGDF61.14
910Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.14
911Familial drusenEnrichmentEFEMP11.14
912Hyperpigmentation of the skinEnrichmentCOL7A11.14
913Lama2-related muscular dystrophyEnrichmentLAMA21.14
914Corpus callosum, agenesis ofEnrichmentCOL4A1, CREBBP1.07
915Anterior segment dysgenesisEnrichmentCOL4A1, ITPR11.07
916Isolated corpus callosum agenesisEnrichmentCOL4A1, CREBBP1.07
917Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A1, CREBBP1.07
918CraniosynostosisEnrichmentFGFR2, FGFR31.06
919Endometrial cancerEnrichmentFGFR2, PTEN1.03
920Gillespie syndromeEnrichmentITPR11.02
921Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD11.02
922Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.02
923Late-onset retinal degenerationEnrichmentPLA2G51.02
924Nephrotic syndrome, type 3EnrichmentPLCE11.02
925Agammaglobulinemia 1EnrichmentBTK1.02
926Intraocular pressure quantitative trait locusEnrichmentCREBBP1.02
927Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.02
928Melanoma of soft tissueEnrichmentCREB11.02
929Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.02
930Kaposi sarcomaEnrichmentIL61.02
931Retinitis pigmentosa 91EnrichmentIMPG11.02
932Amelogenesis imperfecta, type iiiaEnrichmentITGB61.02
933Isolated growth hormone deficiency, type iiEnrichmentGH11.02
934Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.02
935Small cell cancer of the lungEnrichmentTP531.02
936Nemaline myopathy 2EnrichmentACTA11.02
937PhenylketonuriaEnrichmentCOL1A11.02
938Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.02
939SchizencephalyEnrichmentCOL4A11.02
940Autoimmune lymphoproliferative syndromeEnrichmentACTA21.02
941Microtia-anotiaEnrichmentBMP51.02
942Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.02
943Glaucoma 3, primary infantile, bEnrichmentLTBP21.02
944Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.02
945Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.02
946Focal cortical dysplasia, type iiEnrichmentMTOR1.02
947Retinitis pigmentosa 26EnrichmentITGA41.02
948Aminoacylase 1 deficiencyEnrichmentACTB1.02
949Arthrogryposis multiplex congenita 2, neurogenic typeEnrichmentCOL25A11.02
950Hereditary ataxiaEnrichmentPRKCG1.02
951Embryonal rhabdomyosarcomaEnrichmentTP531.02
952CraniopharyngiomaEnrichmentBRAF1.02
953Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.02
954Pilocytic astrocytomaEnrichmentKRAS1.02
955Corneal dystrophyEnrichmentCOL17A11.02
956Newborn respiratory distress syndromeEnrichmentBRAF1.02
957Epidermolytic nevusEnrichmentHRAS1.02
958Epidermolytic hyperkeratosisEnrichmentCOL7A11.02
959Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT1.02
960Knobloch syndromeEnrichmentCOL18A11.02
961Silver-russell syndrome due to a point mutationEnrichmentIGF21.02
962Mitral valve insufficiencyEnrichmentFBN11.02
963Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.02
964Pediatric systemic lupus erythematosusEnrichmentSPP11.02
965Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.02
966Intermediate nemaline myopathyEnrichmentACTA11.02
967Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.02
968Isolated focal cortical dysplasia type iiEnrichmentMTOR1.02
969Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A61.02
970Gingival fibromatosisEnrichmentSOS11.02
971Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.02
972Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.02
973Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A3, LAMA5, PLCE11.00
974Myocardial infarctionEnrichmentITGB3, PSMA60.99
975Tooth agenesisEnrichmentFGFR1, TGFA0.99
976Cleft palate, isolatedEnrichmentCOL11A1, GNB10.98
977Hereditary retinal dystrophyEnrichmentCOL11A2, COL18A1, COL2A1, COL9A1, EFEMP1, IMPG1, IMPG2, ITGA4, LAMA1, TIMP3, VCAN0.97
978Fundus dystrophyEnrichmentCOL11A2, COL18A1, COL2A1, COL9A1, EFEMP1, IMPG1, IMPG2, ITGA4, LAMA1, TIMP3, VCAN0.97
979Inherited cancer-predisposing syndromeEnrichmentEGFR, KIT, MET, PDGFRA, PTEN, TP530.96
980Sensorineural hearing lossEnrichmentCOL11A2, COL9A1, HGF0.94
981Polycystic kidney diseaseEnrichmentCOL4A4, HDAC80.93
982Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN10.93
983Epidermolytic hyperkeratosis 1EnrichmentCOL7A10.93
984Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB30.93
985Visceral myopathy 1EnrichmentACTG20.93
986Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB40.93
987Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN10.93
988Congenital myopathy 3 with rigid spineEnrichmentACTA10.93
989Rhabdomyosarcoma 2EnrichmentTP530.93
990Macrocephaly/autism syndromeEnrichmentPTEN0.93
991Rheumatoid arthritis, systemic juvenileEnrichmentIL60.93
992Atrioventricular septal defectEnrichmentBMP50.93
993Knobloch syndrome 1EnrichmentCOL18A10.93
994Goldberg-shprintzen syndromeEnrichmentFBN10.93
995Congenital heart defects, multiple types, 4EnrichmentBMP70.93
996Glanzmann thrombasthenia 2EnrichmentITGB30.93
997Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA20.93
998Pre-eclampsiaEnrichmentFLT10.93
999Fuchs' endothelial dystrophyEnrichmentCOL8A20.93
1000LymphomaEnrichmentTP530.93
1001Congenital ptosisEnrichmentCOL25A10.93
1002Acute myeloid leukemia with maturationEnrichmentKIT0.93
1003Polycystic liver disease 1EnrichmentFBN10.93
1004Night blindnessEnrichmentEFEMP10.93
1005HemangiomaEnrichmentPTEN0.93
1006Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB30.93
1007Aplasia cutis congenitaEnrichmentITGB40.93
1008Coloboma of choroid and retinaEnrichmentACTG10.93
1009Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentKIT0.93
1010Diffuse cutaneous systemic sclerosisEnrichmentCCN20.93
1011Severe congenital nemaline myopathyEnrichmentACTA10.93
1012Chorea, benign hereditaryEnrichmentADCY50.90
1013Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.90
1014Pseudohypoparathyroidism, type ibEnrichmentGNAS0.90
1015Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.90
1016Spinocerebellar ataxia 15EnrichmentITPR10.90
1017Developmental and epileptic encephalopathy 12EnrichmentPLCB10.90
1018Familial sick sinus syndromeEnrichmentGNB20.90
1019Pancreatic cancerEnrichmentKRAS, TP530.90
1020Tetralogy of fallotEnrichmentFLT4, KDR0.87
1021Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentACAN0.85
1022Glaucoma, primary open angleEnrichmentLTBP20.85
1023Corneal dystrophy, posterior polymorphous, 1EnrichmentCOL8A20.85
1024Split-hand/foot malformation 1EnrichmentFGFR20.85
1025Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.85
1026Moyamoya disease 1EnrichmentACTA20.85
1027Type 1 diabetes mellitusEnrichmentIL60.85
1028Wilms tumor 5EnrichmentBRAF0.85
1029Dental anomalies and short statureEnrichmentLTBP30.85
1030Wiedemann-steiner syndromeEnrichmentSMC30.85
1031Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.85
1032Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB10.85
1033Intestinal pseudo-obstructionEnrichmentACTG20.85
1034Congenital fibrosis of the extraocular musclesEnrichmentCOL25A10.85
1035Pain disorderEnrichmentCOL5A10.85
1036Patent ductus arteriosusEnrichmentPSMC30.85
1037Adrenocortical carcinomaEnrichmentTP530.85
1038Limited sclerodermaEnrichmentCCN20.85
1039Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB10.85
104046,xy disorder of sex developmentEnrichmentFGFR30.85
1041Typical nemaline myopathyEnrichmentACTA10.85
1042Charcot-marie-tooth diseaseEnrichmentARHGEF10, LAMA2, PLD30.82
1043Capillary malformations, congenitalEnrichmentGNA110.81
1044Night blindness, congenital stationary, type 1cEnrichmentGNAT10.81
1045Rubinstein-taybi syndrome 2EnrichmentEP3000.81
1046Prostate cancerEnrichmentPTEN, TP530.79
1047Esophageal cancerEnrichmentTP530.79
1048Glaucoma 3, primary congenital, aEnrichmentLTBP20.79
1049Silver-russell syndrome 1EnrichmentIGF20.79
1050Brugada syndrome 1EnrichmentFBN10.79
1051Waardenburg syndrome, type 2eEnrichmentKITLG0.79
1052Multiple enchondromatosis, maffucci typeEnrichmentCOL2A10.79
1053Hereditary hemorrhagic telangiectasiaEnrichmentGDF20.79
1054MegacolonEnrichmentAKT30.79
1055Epidermolysis bullosa simplexEnrichmentITGB40.79
1056Childhood-onset nemaline myopathyEnrichmentACTA10.79
1057Hypophosphatemic ricketsEnrichmentFGF230.79
1058B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP530.79
1059Stargardt disease 1EnrichmentCOL18A1, COL2A10.77
1060MalariaEnrichmentFCGR2A, FCGR2B0.76
1061Congenital stationary night blindnessEnrichmentGNAT1, GNB30.76
1062West syndromeEnrichmentGNAO1, NTRK2, PLCB10.76
1063Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.74
1064Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR10.74
1065HypertrichosisEnrichmentCREBBP0.74
1066Arthrogryposis, distal, type 1aEnrichmentMET0.74
1067Glioma susceptibility 1EnrichmentTP530.74
1068Isolated growth hormone deficiency, type iaEnrichmentGH10.74
1069Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.74
1070Congenital muscular dystrophyEnrichmentLAMA20.74
1071Childhood-onset schizophreniaEnrichmentFREM20.74
1072Orofacial cleft 1EnrichmentFGF100.69
1073Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.69
1074Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.69
1075Hypogonadotropic hypogonadismEnrichmentFGFR10.69
1076Congenital central hypoventilation syndromeEnrichmentBDNF0.69
1077Ventricular septal defectEnrichmentBRAF0.69
1078Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.69
1079MyelofibrosisEnrichmentSRC0.68
1080BrachydactylyEnrichmentGNAS0.68
1081Common variable immunodeficiencyEnrichmentNFKB10.68
1082Cat eye syndromeEnrichmentACTG10.65
1083Leukemia, chronic lymphocyticEnrichmentTP530.65
1084Meier-gorlin syndrome 1EnrichmentFGFR20.65
1085Nemaline myopathyEnrichmentACTA10.65
1086Familial colorectal cancerEnrichmentTP530.65
1087Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, GNAS0.65
1088Fetal akinesia deformation sequence 1EnrichmentACTA1, FBN20.63
1089Fanconi anemia, complementation group cEnrichmentHDAC80.63
1090Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.63
1091HypothyroidismEnrichmentGNB10.63
1092Choreatic diseaseEnrichmentGNAO10.63
1093Myelodysplastic syndromeEnrichmentTP530.62
1094IchthyosisEnrichmentCOL7A10.62
1095Uterine corpus cancerEnrichmentPTEN0.62
1096Heritable pulmonary arterial hypertensionEnrichmentGDF20.62
1097Nephrotic syndrome, type 1EnrichmentPLCE10.59
1098Charge syndromeEnrichmentEP3000.59
1099Developmental and epileptic encephalopathy 14EnrichmentPLCB10.59
1100Septooptic dysplasiaEnrichmentFGFR10.59
1101Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.59
1102Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.59
1103Postsynaptic congenital myasthenic syndromesEnrichmentCOL13A10.59
1104Congenital nervous system abnormalityEnrichmentCREBBP, FGFR3, GNAO1, GNB5, PLA2G60.57
1105Nervous system diseaseEnrichmentCREBBP, FGFR3, GNAO1, GNB5, PLA2G60.57
1106Long qt syndromeEnrichmentCALM1, CALM20.57
1107Aortic valve disease 1EnrichmentSOS10.56
1108Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A10.56
1109Neural tube defectsEnrichmentITGB10.56
1110Pulmonary hypertension, primary, 1EnrichmentGDF20.56
1111ClubfootEnrichmentCOL5A10.56
1112Protein-deficiency anemiaEnrichmentNRAS0.56
1113Nk-cell enteropathyEnrichmentIGF1R0.56
1114Undetermined early-onset epileptic encephalopathyEnrichmentFGF12, NTRK2, PPP3CA0.56
1115Type 2 diabetes mellitusEnrichmentAKT2, IL60.55
1116Distal arthrogryposisEnrichmentACTA1, COL25A10.55
1117Nonsyndromic hearing lossEnrichmentACTG1, COL11A20.55
1118Cystic fibrosisEnrichmentFCGR2A, TGFB10.55
1119Ciliary dyskinesia, primary, 3EnrichmentNFKB10.55
1120Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.55
1121AchromatopsiaEnrichmentGNAT20.55
1122Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.53
1123Walker-warburg syndromeEnrichmentCOL4A10.53
1124Generalized epilepsy with febrile seizures plusEnrichmentFGF130.53
1125Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.53
112646,xy partial gonadal dysgenesisEnrichmentSOS10.53
1127Immune deficiency diseaseEnrichmentSYK0.51
1128Leukemia, acute lymphoblasticEnrichmentGNB10.51
1129Combined immunodeficiencyEnrichmentZAP700.51
1130Atrial heart septal defectEnrichmentHDAC80.51
1131Movement diseaseEnrichmentGNAO10.51
1132Combined t cell and b cell immunodeficiencyEnrichmentZAP700.51
1133Interatrial communicationEnrichmentHDAC80.51
1134Combined t and b cell immunodeficiencyEnrichmentZAP700.51
1135Rare genetic deafnessEnrichmentACTG1, COL11A2, COL4A50.51
1136Atypical hemolytic-uremic syndromeEnrichmentCOL4A50.50
1137Lynch syndromeEnrichmentKRAS0.50
1138DystoniaEnrichmentGNAL, GNB10.50
1139Eye diseaseEnrichmentGNAT2, IMPG20.50
1140Congenital long qt syndromeEnrichmentITPR30.48
1141Creatine phosphokinase, elevated serumEnrichmentLAMA20.48
1142Perrault syndrome 1EnrichmentFBN10.48
1143Isolated elevated serum creatine phosphokinase levelsEnrichmentLAMA20.48
1144Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF6, RPS6KA30.48
1145Developmental and epileptic encephalopathyEnrichmentARHGEF15, GNAO10.48
1146Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, COL11A2, HGF, MET0.48
1147Melanoma, cutaneous malignant 1EnrichmentBRAF0.46
1148Human immunodeficiency virus type 1EnrichmentCXCL120.44
1149Neuromuscular diseaseEnrichmentACTA10.44
1150Patent foramen ovaleEnrichmentPSMC30.44
1151Cone-rod dystrophy 6EnrichmentGNAT20.43
1152Heart diseaseEnrichmentCREBBP0.43
1153Congenital myopathyEnrichmentACTA10.42
1154Familial isolated dilated cardiomyopathyEnrichmentLAMA4, RAF10.42
1155Polydactyly, postaxial, type a1EnrichmentEP3000.40
1156Williams-beuren syndromeEnrichmentELN0.40
1157Macs syndromeEnrichmentGDF60.40
1158LissencephalyEnrichmentACTG10.39
1159Centronuclear myopathyEnrichmentACTA10.39
1160Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.38
1161Visceral heterotaxyEnrichmentLEFTY20.37
1162Hypertension, essentialEnrichmentGNB30.36
1163Sudden infant death syndromeEnrichmentCALM20.36
1164Diamond-blackfan anemia 1EnrichmentTP530.36
1165Charcot-marie-tooth disease type 4EnrichmentPLD30.35
1166Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.35
1167Ear malformationEnrichmentCOL11A20.34
1168Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.34
1169Muscular dystrophyEnrichmentCOL6A20.34
1170Brugada syndromeEnrichmentSEMA3A0.32
1171Autism spectrum disorderEnrichmentGNB1, MAP2K1, MEF2C, SMC30.32
1172Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, PPP3CA0.31
1173Cardiomyopathy, dilated, 1aEnrichmentNFATC20.30
1174Cone-rod dystrophy 2EnrichmentIMPG2, ITGA40.30
1175Hirschsprung disease 1EnrichmentNRG30.29
1176Severe covid-19EnrichmentITGAV0.29
1177Attention deficit-hyperactivity disorderEnrichmentGNB50.28
1178Spastic ataxiaEnrichmentITPR1, PLA2G60.28
1179Cone dystrophyEnrichmentGNAT20.26
1180Peripheral nervous system diseaseEnrichmentNGF0.26
1181NeuropathyEnrichmentNGF0.26
1182Familial hypertrophic cardiomyopathyEnrichmentRAF10.25
1183Developmental and epileptic encephalopathy 1EnrichmentGNAO10.25
1184Left ventricular noncompactionEnrichmentRAF10.23
1185StrabismusEnrichmentGNB10.23
1186Diamond-blackfan anemiaEnrichmentTP530.23
1187Non-syndromic genetic deafnessEnrichmentACTG10.23
1188AutismEnrichmentCOL11A1, CREBBP0.16
1189Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.13
1190Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.12
1191Centralopathic epilepsyEnrichmentPLCB10.12
1192Complex neurodevelopmental disorderEnrichmentGNB2, RAC3, RALA0.11
1193Primary ciliary dyskinesiaEnrichmentDRC40.07
1194Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.07
1195Mitochondrial diseaseEnrichmentGFER0.05
1196Retinitis pigmentosaEnrichmentCOL18A1, IMPG1, IMPG20.05
1197Leber plus diseaseEnrichmentGDF60.04