Head and neck squamous cell carcinoma

No Pathway Network information available for Head and neck squamous cell carcinoma

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

Disorders associated with Head and neck squamous cell carcinoma SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bladder cancerEnrichmentCDKN1A, CDKN2A, CTNNB1, EGFR, ERBB2, FGFR3, HRAS, KRAS, PIK3CA, PTEN, RB1, TERT, TP53, TSC116.00
2Gastric cancerEnrichmentCDK4, CDKN2A, ERBB2, FGFR2, KRAS, PIK3CA, PTEN, SMAD4, STK11, TP5316.00
3Adult hepatocellular carcinomaEnrichmentCASP8, CTNNB1, PIK3CA, TP53, TSC1, TSC216.00
4Ovarian cancerEnrichmentAKT1, CDKN2A, CTNNB1, EGFR, ERBB2, KRAS, PIK3CA, PTEN, RB1, TP53, TSC211.16
5Lip and oral cavity carcinomaEnrichmentCDKN2A, EGFR, HRAS, PIK3CA, RB1, STK11, TP5311.14
6Colorectal cancerEnrichmentAKT1, CCND1, CTNNB1, ERBB2, FGFR2, FGFR3, NFE2L2, NRAS, PIK3CA, PIK3R1, SMAD4, TP5310.99
7HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN, RHEB10.94
8Lung non-small cell carcinomaEnrichmentEGFR, ERBB2, HRAS, KRAS, NRAS, PIK3CA10.57
9Lung squamous cell carcinomaEnrichmentCDKN2A, EGFR, FGFR3, KRAS, PIK3CA10.37
10Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA10.08
11Gallbladder cancerEnrichmentCTNNB1, KRAS, PIK3CA, SMAD4, TP5310.08
12Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC29.10
13Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC29.10
14Inherited cancer-predisposing syndromeEnrichmentCDK4, CDKN2A, EGFR, PTEN, RB1, SMAD4, STK11, TP53, TSC1, TSC28.70
15Lung cancer susceptibility 3EnrichmentEGFR, ERBB2, KRAS, RB1, TP538.12
16Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, TERT, TP537.94
17Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, TP537.94
18Lung cancerEnrichmentCASP8, EGFR, ERBB2, KRAS, NFE2L2, PIK3CA7.80
19Hepatocellular carcinomaEnrichmentCASP8, CTNNB1, PIK3CA, TERT, TP537.02
20HamartomaEnrichmentFGFR3, TSC1, TSC26.83
21KeratoacanthomaEnrichmentNOTCH1, NOTCH2, PIK3CA6.83
22Pancreatic cancerEnrichmentCDKN2A, KRAS, SMAD4, STK11, TP536.72
23MeningiomaEnrichmentAKT1, PIK3CA, PTEN, TERT6.43
24Myeloma, multipleEnrichmentCCND1, FAT1, FGFR3, KRAS, PIK3R2, TP536.29
25Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.22
26Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.22
27Lung sarcomatoid carcinomaEnrichmentKRAS, TERT, TP536.22
28GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, TP535.87
29Melanoma, cutaneous malignant 1EnrichmentCDK4, CDKN2A, STK11, TERT5.76
30Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, TP535.76
31Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN5.53
32Breast cancerEnrichmentAKT1, CASP8, KRAS, PIK3CA, PTEN, TP535.53
33Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA, PTEN, TP535.44
34HepatoblastomaEnrichmentCTNNB1, FGFR3, TERT, TP535.37
35Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS, PTEN5.29
36Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP535.29
37Follicular thyroid carcinomaEnrichmentHRAS, NRAS, PTEN5.29
38Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.91
39Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS, TERT4.78
40MelanomaEnrichmentCDKN2A, PTEN, STK114.76
41Cervical cancerEnrichmentFGFR3, TP534.54
42LymphangioleiomyomatosisEnrichmentTSC1, TSC24.54
43Keratosis, seborrheicEnrichmentFGFR3, PIK3CA4.54
44Pfeiffer syndromeEnrichmentFGFR1, FGFR24.54
45Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.54
46Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.54
47Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.54
48Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA4.54
49Cervix carcinomaEnrichmentFGFR3, TP534.54
50Nk-cell enteropathyEnrichmentCUL3, IGF1R, PIK3CB4.39
51Leukemia, acute myeloidEnrichmentKRAS, NRAS, TERT, TP534.22
52Lynch syndromeEnrichmentKRAS, PIK3CA, TGFBR24.19
53Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS4.19
54RhabdomyosarcomaEnrichmentHRAS, PTEN, TP534.10
55Crouzon syndromeEnrichmentFGFR2, FGFR34.07
56Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR34.07
57Tuberous sclerosis 1EnrichmentTSC1, TSC24.07
58Osteogenic sarcomaEnrichmentRB1, TP534.07
59Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.07
60Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.07
61Testicular germ cell cancerEnrichmentFGFR3, STK114.07
62Squamous cell carcinomaEnrichmentRB1, TP534.07
63Bone osteosarcomaEnrichmentRB1, TP534.07
64SpermatocytomaEnrichmentFGFR3, HRAS4.07
65Testicular cancerEnrichmentFGFR3, STK114.07
66Small cell cancer of the lungEnrichmentRB1, TP533.77
67Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.77
68Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.77
69Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.77
70Tuberous sclerosisEnrichmentTSC1, TSC23.77
71GliomaEnrichmentFGFR2, PTEN3.77
72Cleft lip and alveolusEnrichmentIRF6, TP633.77
73Endometrial cancerEnrichmentFGFR2, PIK3CA, PTEN3.73
74Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS3.61
75Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.55
76Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.55
77Cleft upper lipEnrichmentIRF6, TP633.55
78Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD4, STK113.55
79RasopathyEnrichmentHRAS, KRAS, NRAS3.45
80Li-fraumeni syndromeEnrichmentCDKN2A, TP533.37
81Testicular germ cell tumorEnrichmentFGFR3, STK113.37
82Prostate cancerEnrichmentPIK3CA, PTEN, TP533.31
83Esophageal cancerEnrichmentTGFBR2, TP533.23
84Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA3.23
85Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.23
86Noonan syndrome 3EnrichmentHRAS, KRAS3.23
87Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS3.23
88Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.23
89Overgrowth syndromeEnrichmentMTOR, PIK3R13.23
90B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP533.23
91Connective tissue diseaseEnrichmentFGFR3, NOTCH1, TGFBR23.18
92Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS3.11
93Glioma susceptibility 1EnrichmentERBB2, TP533.11
94Arteriovenous malformationEnrichmentHRAS, PIK3CA3.00
95Leukemia, chronic lymphocyticEnrichmentCCND1, TP532.90
96Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA2.90
97Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH1, SMAD4, TGFBR22.77
98Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS2.74
99Cleft lip/palateEnrichmentIRF6, TP632.60
100Congenital nervous system abnormalityEnrichmentCTNNB1, FGFR3, PTEN, TSC22.60
101Nervous system diseaseEnrichmentCTNNB1, FGFR3, PTEN, TSC22.60
102Hereditary breast ovarian cancer syndromeEnrichmentKRAS, PTEN, TP532.49
103Primary ovarian insufficiencyEnrichmentNOTCH2, RICTOR, TP632.41
104Arteriovenous malformations of the brainEnrichmentEGFR, KRAS2.34
105Diffuse large b-cell lymphomaEnrichmentPTEN, TP532.34
106CraniosynostosisEnrichmentFGFR2, FGFR32.29
107Rapp-hodgkin syndromeEnrichmentTP632.27
108Ankyloblepharon-ectodermal defects-cleft lip/palateEnrichmentTP632.27
109HypochondroplasiaEnrichmentFGFR32.27
110MacrodactylyEnrichmentPIK3CA2.27
111Proteus syndromeEnrichmentAKT12.27
112Beare-stevenson cutis gyrata syndromeEnrichmentFGFR22.27
113Paget disease, extramammaryEnrichmentERBB22.27
114Osteoglophonic dysplasiaEnrichmentFGFR12.27
115Thanatophoric dysplasia, type iEnrichmentFGFR32.27
116Trigonocephaly 1EnrichmentFGFR12.27
117Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.27
118Oculoectodermal syndromeEnrichmentKRAS2.27
119Muenke syndromeEnrichmentFGFR32.27
120Vacterl association with hydrocephalusEnrichmentPTEN2.27
121Split-hand/foot malformation 4EnrichmentTP632.27
122Deafness, autosomal recessive 26EnrichmentGAB12.27
123Ankyloblepharon filiforme adnatum and cleft palateEnrichmentTP632.27
124Caspase 8 deficiencyEnrichmentCASP82.27
125Melanoma, cutaneous malignant 3EnrichmentCDK42.27
126Orofacial cleft 6EnrichmentIRF62.27
127Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR22.27
128Megalencephaly, autosomal dominantEnrichmentPIK3CA2.27
129Apert syndromeEnrichmentFGFR22.27
130Hajdu-cheney syndromeEnrichmentNOTCH22.27
131Alagille syndrome 2EnrichmentNOTCH22.27
132Popliteal pterygium syndromeEnrichmentIRF62.27
133Adult syndromeEnrichmentTP632.27
134Cowden syndrome 5EnrichmentPIK3CA2.27
135Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.27
136Pseudohypoaldosteronism, type iieEnrichmentCUL32.27
137Melanosis, neurocutaneousEnrichmentNRAS2.27
138Thanatophoric dysplasia, type iiEnrichmentFGFR32.27
139Noonan syndrome 6EnrichmentNRAS2.27
140Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.27
141Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.27
142Bent bone dysplasia syndrome 1EnrichmentFGFR22.27
143Cerebral cavernous malformations 4EnrichmentPIK3CA2.27
144Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.27
145Immunodeficiency 92EnrichmentREL2.27
146Short syndromeEnrichmentPIK3R12.27
147Bone marrow failure syndrome 5EnrichmentTP532.27
148Immunodeficiency, developmental delay, and hypohomocysteinemiaEnrichmentNFE2L22.27
149Papilloma of choroid plexusEnrichmentTP532.27
150Basal cell carcinoma 7EnrichmentTP532.27
151Immunodeficiency 132aEnrichmentTRAF32.27
152Immunodeficiency 132bEnrichmentTRAF32.27
153Autism 19EnrichmentEIF4E2.27
154Anaplastic thyroid carcinomaEnrichmentTP532.27
155Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3EnrichmentTP632.27
156Papillary tumor of the pineal regionEnrichmentPTEN2.27
157Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.27
158Limb-mammary syndromeEnrichmentTP632.27
159Microvascular complications of diabetes 1EnrichmentVEGFA2.27
160Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.27
161Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.27
162Hemifacial myohyperplasiaEnrichmentPIK3CA2.27
163Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.27
164Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.27
165Premature ovarian failure 21EnrichmentTP632.27
166Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.27
167Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD2.27
168Cowden syndrome 6EnrichmentAKT12.27
169Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.27
170Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.27
171Glioma susceptibility 2EnrichmentPTEN2.27
172Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.27
173Ductal carcinoma in situEnrichmentTP532.27
174Hartsfield syndromeEnrichmentFGFR12.27
175Orofacial cleft 8EnrichmentTP632.27
176Neurodevelopmental disorder with or without autism or seizuresEnrichmentCUL32.27
177Irf6-related disordersEnrichmentIRF62.27
178Autosomal dominant popliteal pterygium syndromeEnrichmentIRF62.27
179Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.27
180Autosomal recessive dyskeratosis congenita 4EnrichmentTERT2.27
181Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.27
182Thyroid gland undifferentiated carcinomaEnrichmentTP532.27
183Trilateral retinoblastomaEnrichmentRB12.27
184Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.27
185Adenoid ameloblastomaEnrichmentCTNNB12.27
186Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.27
187Cdkn2a cancer predispositionEnrichmentCDKN2A2.27
188Heritable thoracic aortic diseaseEnrichmentSMAD42.27
189HypospadiasEnrichmentPIK3CA2.27
190Capillary hemangiomaEnrichmentAKT32.27
191Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.27
192Tp63-related disordersEnrichmentTP632.27
193Congenital pulmonary airway malformationEnrichmentKRAS2.27
194Choroid plexus cancerEnrichmentTP532.27
195Rare venous malformationEnrichmentPIK3CA2.27
196Diaphragmatic eventrationEnrichmentPIK3CA2.27
197Fgfr3-related chondrodysplasiaEnrichmentFGFR32.27
198Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.27
199Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.27
200Pleomorphic xanthoastrocytomaEnrichmentTP532.27
201Rare combined vascular malformationEnrichmentPIK3CA2.27
202Cavernous lymphangiomaEnrichmentPIK3CA2.27
203Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.27
204Phakomatosis pigmentokeratoticaEnrichmentHRAS2.27
205Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.27
206Intestinal polyposis syndromeEnrichmentSTK112.27
207Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.27
208Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.27
209Eccrine angiomatous hamartomaEnrichmentPIK3CA2.27
210Non-syndromic unicoronal craniosynostosisEnrichmentFGFR22.27
211Macrodactyly of toeEnrichmentPIK3CA2.27
212Serous carcinoma of the corpus uteriEnrichmentERBB22.27
213Neurocutaneous melanocytosisEnrichmentNRAS2.27
214Microcystic stromal tumorEnrichmentCTNNB12.27
215Akt2-related familial partial lipodystrophyEnrichmentAKT22.27
216Lung oat cell carcinomaEnrichmentRB12.27
217Tooth agenesisEnrichmentFGFR1, IRF62.21
218Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.97
219Peutz-jeghers syndromeEnrichmentSTK111.97
220Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1EnrichmentTP631.97
221Myhre syndromeEnrichmentSMAD41.97
222Adrenocortical carcinoma, hereditaryEnrichmentTP531.97
223Costello syndromeEnrichmentHRAS1.97
224Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.97
225Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.97
226Loeys-dietz syndrome 2EnrichmentTGFBR21.97
227Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.97
228Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentCUL31.97
229Microvascular complications of diabetes 5EnrichmentTGFBR21.97
230Aural atresia, congenitalEnrichmentFGFR21.97
231Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.97
232Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentKEAP11.97
233Adams-oliver syndrome 5EnrichmentNOTCH11.97
234Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT1.97
235Chromosome 13q14 deletion syndromeEnrichmentRB11.97
236Noonan syndrome 8EnrichmentPIK3CA1.97
237Lymphoma, hodgkin, classicEnrichmentTP531.97
238Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.97
239Immunodeficiency, common variable, 10EnrichmentNFKB21.97
240Myasthenic syndrome, congenital, 12EnrichmentFAT11.97
241Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.97
242Cebalid syndromeEnrichmentMTOR1.97
243Childhood hepatocellular carcinomaEnrichmentCTNNB11.97
244Bladder exstrophyEnrichmentTP631.97
245Senior-loken syndrome 7EnrichmentAKT31.97
246Split hand-foot malformationEnrichmentFGFR21.97
247Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.97
248Congenital fibrosarcomaEnrichmentTP531.97
249Li-fraumeni syndrome 1EnrichmentTP531.97
250SarcomaEnrichmentTP531.97
251Melanoma, cutaneous malignant 9EnrichmentTERT1.97
252Hodgkin's lymphomaEnrichmentTP531.97
253Bardet-biedl syndrome 16EnrichmentAKT31.97
254Smith-kingsmore syndromeEnrichmentMTOR1.97
255Idiopathic interstitial pneumoniaEnrichmentTERT1.97
256Fissured tongueEnrichmentTP631.97
257Interfrontal craniofaciosynostosisEnrichmentFGFR11.97
258Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.97
259Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.97
260Vacterl with hydrocephalusEnrichmentPTEN1.97
261Van der woude syndromeEnrichmentIRF61.97
262TeratomaEnrichmentCTNNB11.97
263Familial retinoblastomaEnrichmentRB11.97
264Common variable immunodeficiency 12EnrichmentNFKB11.97
265Juvenile polyposis of infancyEnrichmentPTEN1.97
266Pleomorphic rhabdomyosarcomaEnrichmentTP531.97
267Oculootodental syndromeEnrichmentFADD1.97
268Wooly hair nevusEnrichmentHRAS1.97
269Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.92
270Desmoid disease, hereditaryEnrichmentCTNNB11.79
271AchondroplasiaEnrichmentFGFR31.79
272Van der woude syndrome 1EnrichmentIRF61.79
273Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.79
274Larsen syndromeEnrichmentFGFR31.79
275RetinoblastomaEnrichmentRB11.79
276Pseudohypoaldosteronism, type iiaEnrichmentCUL31.79
277Juvenile polyposis syndromeEnrichmentSMAD41.79
278Pompe disease, infantile-onsetEnrichmentPIK3CA1.79
279Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.79
280Langerhans cell histiocytosisEnrichmentNRAS1.79
281Nasopharyngeal carcinomaEnrichmentTP531.79
282Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.79
283Tuberous sclerosis 2EnrichmentTSC21.79
284Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.79
285Woolly hair, autosomal recessive 3EnrichmentRB11.79
286Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.79
287Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.79
288Anus, imperforateEnrichmentCTNNB11.79
289Exudative vitreoretinopathy 7EnrichmentCTNNB11.79
290Hypotrichosis 8EnrichmentRB11.79
291Desmoid tumorEnrichmentCTNNB11.79
292Dedifferentiated liposarcomaEnrichmentCDK41.79
293Loeys-dietz syndrome 1EnrichmentTGFBR21.79
294Interstitial lung diseaseEnrichmentTERT1.79
295Atypical teratoid rhabdoid tumorEnrichmentTP531.79
296Anaplastic astrocytomaEnrichmentTP531.79
297Xanthinuria, type iiEnrichmentTSC21.79
298Immunodeficiency 14EnrichmentPIK3R11.79
299Macrocytic anemiaEnrichmentTERT1.79
300AdenocarcinomaEnrichmentTP531.79
301Laryngeal squamous cell carcinomaEnrichmentPTEN1.79
302Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.79
303Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.79
304Well-differentiated liposarcomaEnrichmentCDK41.79
305Apc-associated polyposis conditionsEnrichmentSTK111.79
306Autism spectrum disorderEnrichmentCUL3, PTEN, TSC21.68
307Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.67
308Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.67
309Thyroid cancer, nonmedullary, 1EnrichmentTP531.67
310Immunodeficiency, common variable, 1EnrichmentNFKB21.67
311PilomatrixomaEnrichmentCTNNB11.67
312Barrett esophagusEnrichmentERBB21.67
313Lynch syndrome 4EnrichmentRB11.67
314Alazami syndromeEnrichmentCTNNB11.67
315Mantle cell lymphomaEnrichmentCCND11.67
316Cardiofaciocutaneous syndromeEnrichmentKRAS1.67
317Cerebrovascular diseaseEnrichmentPIK3CA1.67
318Embryonal rhabdomyosarcomaEnrichmentTP531.67
319CraniopharyngiomaEnrichmentCTNNB11.67
320Pilocytic astrocytomaEnrichmentKRAS1.67
321Epidermolytic nevusEnrichmentHRAS1.67
322Familial cerebral cavernous malformationsEnrichmentPIK3CA1.67
323Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.67
324Capillary malformations, congenitalEnrichmentPIK3CA1.57
325Exudative vitreoretinopathy 1EnrichmentCTNNB11.57
326Von hippel-lindau syndromeEnrichmentCCND11.57
327Rhabdomyosarcoma 2EnrichmentTP531.57
328Macrocephaly/autism syndromeEnrichmentPTEN1.57
329Insulin-like growth factor iEnrichmentIGF1R1.57
330Familial adenomatous polyposis 1EnrichmentSTK111.57
331LymphomaEnrichmentTP531.57
332HoloprosencephalyEnrichmentFGFR11.57
333HemangiomaEnrichmentPTEN1.57
334Herpes simplex virus encephalitisEnrichmentTRAF31.57
335Primary hypereosinophilic syndromeEnrichmentFGFR11.57
336Idiopathic aplastic anemiaEnrichmentTERT1.57
337HypertelorismEnrichmentFGFR2, PIK3CA1.50
338Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT1.50
339Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.50
340Weyers acrofacial dysostosisEnrichmentCTNNB11.50
341Split-hand/foot malformation 1EnrichmentFGFR21.50
342Hemihyperplasia, isolatedEnrichmentPIK3CA1.50
343Holoprosencephaly 1EnrichmentFGFR11.50
344KeratoconusEnrichmentTSC11.50
345Pulmonary fibrosisEnrichmentTERT1.50
346Hoyeraal-hreidarsson syndromeEnrichmentTERT1.50
34746,xy disorder of sex developmentEnrichmentFGFR31.50
348Kidney clear cell sarcomaEnrichmentTERT1.50
349Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.43
350Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.43
351Renal cell carcinoma, papillary, 1EnrichmentMTOR1.43
352Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT1.43
353Adams-oliver syndromeEnrichmentNOTCH11.43
354Polycystic kidney disease 1EnrichmentTSC21.43
355Essential thrombocythemiaEnrichmentTP531.43
356Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.43
357MegacolonEnrichmentAKT31.43
358Lymphoma, non-hodgkin, familialEnrichmentTP531.37
359Exudative vitreoretinopathyEnrichmentCTNNB11.37
360Hypoplastic left heart syndromeEnrichmentNOTCH11.37
361Isolated split hand-split foot malformationEnrichmentTP631.37
362Nephrotic syndrome, type 1EnrichmentFAT11.32
363Loeys-dietz syndromeEnrichmentTGFBR21.32
364Hypogonadotropic hypogonadismEnrichmentFGFR11.32
365Primary hyperaldosteronismEnrichmentTP531.32
366Marfan syndromeEnrichmentTGFBR21.28
367Meier-gorlin syndrome 1EnrichmentFGFR21.28
368Ciliary dyskinesia, primary, 3EnrichmentNFKB11.28
369Aplastic anemiaEnrichmentTERT1.28
370PolymicrogyriaEnrichmentAKT31.28
371Familial colorectal cancerEnrichmentTP531.28
372Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.28
373Primary bone dysplasiaEnrichmentFGFR31.28
374Meningioma, familialEnrichmentPTEN1.24
375Leukemia, acute lymphoblasticEnrichmentCDKN2A1.24
376Myelodysplastic syndromeEnrichmentTP531.24
377OsteochondrodysplasiaEnrichmentFGFR31.24
378Uterine corpus cancerEnrichmentPTEN1.24
379Septooptic dysplasiaEnrichmentFGFR11.20
380Renal hypodysplasia/aplasia 3EnrichmentFGFR31.20
381Aortic valve disease 1EnrichmentNOTCH11.17
382Premature menopauseEnrichmentTP631.17
383Protein-deficiency anemiaEnrichmentNRAS1.17
384Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.14
385MedulloblastomaEnrichmentCTNNB11.14
386Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.14
387Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.11
388HydrocephalusEnrichmentFGFR21.11
389Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.11
390Kidney diseaseEnrichmentTSC11.11
391Rare genetic intellectual disabilityEnrichmentMTOR1.11
392Male infertility with spermatogenesis disorderEnrichmentTP631.11
393Microform holoprosencephalyEnrichmentFGFR11.08
394Lobar holoprosencephalyEnrichmentFGFR11.08
395Cleft palate, isolatedEnrichmentIRF61.06
396Interstitial lung disease 2EnrichmentTERT1.06
397Polycystic liver diseaseEnrichmentCTNNB11.06
398Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.06
399Semilobar holoprosencephalyEnrichmentFGFR11.03
400Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR11.03
401Ehlers-danlos syndromeEnrichmentTGFBR21.01
402Dyskeratosis congenitaEnrichmentTERT1.01
403Multisystem inflammatory syndrome in childrenEnrichmentTRAF30.95
404Diamond-blackfan anemia 1EnrichmentTP530.93
405Kallmann syndromeEnrichmentFGFR10.93
406Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A0.93
407Tetralogy of fallotEnrichmentNOTCH10.88
408Hydrops fetalis, nonimmuneEnrichmentHRAS0.88
409MicrocephalyEnrichmentCTNNB1, IGF1R0.85
410Hirschsprung disease 1EnrichmentERBB20.84
411Primary autosomal recessive microcephalyEnrichmentCDK60.80
412Diamond-blackfan anemiaEnrichmentTP530.75
413Type 2 diabetes mellitusEnrichmentAKT20.69
414Nephrotic syndromeEnrichmentFAT10.68
415West syndromeEnrichmentTSC20.67
416ThrombocytopeniaEnrichmentSMAD40.64
417Complex neurodevelopmental disorderEnrichmentCUL30.31

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