Small cell lung cancer

No Pathway Network information available for Small cell lung cancer

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

Disorders associated with Small cell lung cancer SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB27.73
2Junctional epidermolysis bullosaEnrichmentITGA6, LAMA3, LAMB3, LAMC26.54
3Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.46
4Breast cancerEnrichmentAKT1, CASP8, CDKN2B, CKS1B, PIK3CA, PTEN, TP536.02
5Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.86
6Bladder cancerEnrichmentCDKN1A, PIK3CA, PTEN, RB1, TP535.78
7Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB25.52
8Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A55.47
9Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A55.47
10HemimegalencephalyEnrichmentAKT3, PIK3CA, PTEN5.47
11Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A55.47
12Epidermolysis bullosa, junctional 1a, intermediateEnrichmentLAMA3, LAMB3, LAMC25.17
13Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC25.17
14Junctional epidermolysis bullosa non-herlitz typeEnrichmentLAMA3, LAMB3, LAMC25.17
15Breast adenocarcinomaEnrichmentAKT1, PIK3CA, TP535.17
16Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B, CDKN2B4.93
17Adult hepatocellular carcinomaEnrichmentCASP8, PIK3CA, TP534.55
18Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.55
19Colorectal cancerEnrichmentAKT1, BAX, CCND1, PIK3CA, PIK3R1, TP534.47
20Myeloma, multipleEnrichmentCCND1, PIK3R2, RXRA, TP53, TRAF54.34
21Prostate cancerEnrichmentPIK3CA, POLK, PTEN, TP534.31
22Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.30
23X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A64.30
24MeningiomaEnrichmentAKT1, PIK3CA, PTEN4.14
25Lip and oral cavity carcinomaEnrichmentPIK3CA, RB1, TP534.14
26Ovarian cancerEnrichmentAKT1, CDKN1B, PIK3CA, PTEN, RB1, TP534.10
27Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A43.83
28Osteogenic sarcomaEnrichmentRB1, TP533.83
29Nasopharyngeal carcinomaEnrichmentNFKBIA, TP533.83
30Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.83
31Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.83
32High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC3.83
33Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.83
34Squamous cell carcinomaEnrichmentRB1, TP533.83
35Bone osteosarcomaEnrichmentRB1, TP533.83
36Gastric cancerEnrichmentCDK4, PIK3CA, PTEN, TP533.63
37Hereditary breast carcinomaEnrichmentAKT1, PIK3CA, PTEN, TP533.59
38Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A23.53
39Small cell cancer of the lungEnrichmentRB1, TP533.53
40Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A43.53
41Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.53
42Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A43.53
43Inherited cancer-predisposing syndromeEnrichmentCDK4, CDKN1B, MAX, PTEN, RB1, TP533.46
44Hepatocellular carcinomaEnrichmentCASP8, PIK3CA, TP533.32
45Epidermolysis bullosaEnrichmentITGA6, LAMB33.31
46Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.31
47Familial porencephalyEnrichmentCOL4A1, COL4A23.31
48Cowden syndrome 1EnrichmentPIK3CA, PTEN3.14
49Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A23.14
50Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B3.14
51Squamous cell carcinoma, head and neckEnrichmentPTEN, TP532.99
52Gallbladder cancerEnrichmentPIK3CA, TP532.99
53MegacolonEnrichmentAKT3, FHIT2.99
54Leukemia, chronic lymphocyticEnrichmentCCND1, TP532.67
55Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.67
56Chronic kidney diseaseEnrichmentCOL4A4, COL4A52.43
57Multiple sclerosisEnrichmentLAMA5, LAMB12.37
58Lung cancer susceptibility 3EnrichmentRB1, TP532.37
59HypertensionEnrichmentCOL4A4, COL4A52.25
60RhabdomyosarcomaEnrichmentPTEN, TP532.25
61GliosarcomaEnrichmentNFKBIA, TP532.25
62Melanoma, cutaneous malignant 1EnrichmentCDK4, CDKN2B2.20
63Giant cell glioblastomaEnrichmentNFKBIA, TP532.20
64Hereditary breast ovarian cancer syndromeEnrichmentFHIT, PTEN, TP532.16
65MacrodactylyEnrichmentPIK3CA2.15
66Proteus syndromeEnrichmentAKT12.15
67Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.15
68Vacterl association with hydrocephalusEnrichmentPTEN2.15
69Alport syndrome 1, x-linkedEnrichmentCOL4A52.15
70Incontinentia pigmentiEnrichmentIKBKG2.15
71Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.15
72Caspase 8 deficiencyEnrichmentCASP82.15
73Melanoma, cutaneous malignant 3EnrichmentCDK42.15
74Megalencephaly, autosomal dominantEnrichmentPIK3CA2.15
75Cardiomyopathy, dilated, 1jjEnrichmentLAMA42.15
76Cowden syndrome 5EnrichmentPIK3CA2.15
77Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.15
78Lissencephaly 5EnrichmentLAMB12.15
79Fetal encasement syndromeEnrichmentCHUK2.15
80Cerebral cavernous malformations 4EnrichmentPIK3CA2.15
81Immunodeficiency 15bEnrichmentIKBKB2.15
82Nephrotic syndrome, type 26EnrichmentLAMA52.15
83Deafness, x-linked 6EnrichmentCOL4A62.15
84Immunodeficiency 15aEnrichmentIKBKB2.15
85Short syndromeEnrichmentPIK3R12.15
86Bone marrow failure syndrome 5EnrichmentTP532.15
87Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B2.15
88Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.15
89Papilloma of choroid plexusEnrichmentTP532.15
90Basal cell carcinoma 7EnrichmentTP532.15
91PorencephalyEnrichmentCOL4A12.15
92Immunodeficiency 132aEnrichmentTRAF32.15
93Immunodeficiency 132bEnrichmentTRAF32.15
94Anaplastic thyroid carcinomaEnrichmentTP532.15
95Papillary tumor of the pineal regionEnrichmentPTEN2.15
96Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.15
97Thrombocytopenia 4EnrichmentCYCS2.15
98Hemifacial myohyperplasiaEnrichmentPIK3CA2.15
99Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.15
100Neuroendocrine tumorEnrichmentCDKN1B2.15
101Cortical malformations, occipitalEnrichmentLAMC32.15
102Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.15
103Polydactyly-macrocephaly syndromeEnrichmentMAX2.15
104Cowden syndrome 6EnrichmentAKT12.15
105Microphthalmia, syndromic 12EnrichmentRARB2.15
106Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.15
107Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.15
108Glioma susceptibility 2EnrichmentPTEN2.15
109Ductal carcinoma in situEnrichmentTP532.15
110Bartsocas-papas syndrome 2EnrichmentCHUK2.15
111Bent bone dysplasia syndrome 2EnrichmentLAMA52.15
112Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.15
113Thyroid gland undifferentiated carcinomaEnrichmentTP532.15
114Trilateral retinoblastomaEnrichmentRB12.15
115Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.15
116Col4a1-related disordersEnrichmentCOL4A12.15
117Occipital pachygyria and polymicrogyriaEnrichmentLAMC32.15
118HypospadiasEnrichmentPIK3CA2.15
119Capillary hemangiomaEnrichmentAKT32.15
120Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.15
121Choroid plexus cancerEnrichmentTP532.15
122Rare venous malformationEnrichmentPIK3CA2.15
123Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.15
124Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A12.15
125Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.15
126Diaphragmatic eventrationEnrichmentPIK3CA2.15
127X-linked alport syndromeEnrichmentCOL4A52.15
128Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.15
129Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.15
130Pleomorphic xanthoastrocytomaEnrichmentTP532.15
131Rare combined vascular malformationEnrichmentPIK3CA2.15
132Cavernous lymphangiomaEnrichmentPIK3CA2.15
133Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.15
134Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeEnrichmentCDKN1C2.15
135Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.15
136Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.15
137Lama5-related multisystemic syndromeEnrichmentLAMA52.15
138Eccrine angiomatous hamartomaEnrichmentPIK3CA2.15
139Macrodactyly of toeEnrichmentPIK3CA2.15
140Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA22.15
141Akt2-related familial partial lipodystrophyEnrichmentAKT22.15
142Lung oat cell carcinomaEnrichmentRB12.15
143Diffuse large b-cell lymphomaEnrichmentPTEN, TP532.11
144Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A52.06
145Endometrial cancerEnrichmentPIK3CA, PTEN2.02
146Skin diseaseEnrichmentLAMB3, LAMC21.98
147MalariaEnrichmentIKBKG, NOS21.94
148Amelogenesis imperfecta, type iaEnrichmentLAMB31.85
149Burkitt lymphomaEnrichmentMYC1.85
150Adrenocortical carcinoma, hereditaryEnrichmentTP531.85
151Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.85
152Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.85
153Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA31.85
154Myasthenic syndrome, congenital, 5EnrichmentLAMB21.85
155Cervical cancerEnrichmentTP531.85
156Immunodeficiency 33EnrichmentIKBKG1.85
157Xeroderma pigmentosum, complementation group eEnrichmentDDB21.85
158Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.85
159Keratosis, seborrheicEnrichmentPIK3CA1.85
160Lissencephaly 1EnrichmentLAMB11.85
161Roifman-chitayat syndromeEnrichmentPIK3CD1.85
162Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentCDKN1C1.85
163Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic faciesEnrichmentPOLK1.85
164Specific language impairment 5EnrichmentCOL4A41.85
165Chromosome 13q14 deletion syndromeEnrichmentRB11.85
166Noonan syndrome 8EnrichmentPIK3CA1.85
167Pierson syndromeEnrichmentLAMB21.85
168Lymphoma, hodgkin, classicEnrichmentTP531.85
169Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.85
170Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.85
171Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A21.85
172Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC21.85
173Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC21.85
174Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB1.85
175Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA31.85
176Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.85
177Intravascular large b-cell lymphomaEnrichmentBCL21.85
178Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB21.85
179Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.85
180Rela fusion-positive ependymomaEnrichmentRELA1.85
181Senior-loken syndrome 7EnrichmentAKT31.85
182Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.85
183Congenital fibrosarcomaEnrichmentTP531.85
184GlomerulonephritisEnrichmentCOL4A41.85
185Li-fraumeni syndrome 1EnrichmentTP531.85
186SarcomaEnrichmentTP531.85
187Cervix carcinomaEnrichmentTP531.85
188Immune system diseaseEnrichmentPIK3CD1.85
189Hodgkin's lymphomaEnrichmentTP531.85
190Bardet-biedl syndrome 16EnrichmentAKT31.85
191Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA31.85
192Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.85
193Vacterl with hydrocephalusEnrichmentPTEN1.85
194Familial retinoblastomaEnrichmentRB11.85
195Common variable immunodeficiency 12EnrichmentNFKB11.85
196Juvenile polyposis of infancyEnrichmentPTEN1.85
197Xeroderma pigmentosum group eEnrichmentDDB21.85
198Pleomorphic rhabdomyosarcomaEnrichmentTP531.85
199Retinal arteries, tortuosity ofEnrichmentCOL4A11.68
200RetinoblastomaEnrichmentRB11.68
201Bleeding disorder, platelet-type, 16EnrichmentITGA2B1.68
202Pompe disease, infantile-onsetEnrichmentPIK3CA1.68
203Glomerulopathy with fibronectin deposits 2EnrichmentFN11.68
204Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA21.68
205Brain small vessel disease 2EnrichmentCOL4A21.68
206Woolly hair, autosomal recessive 3EnrichmentRB11.68
207Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.68
208Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.68
209Pilarowski-bjornsson syndromeEnrichmentCOL4A31.68
210Hypotrichosis 8EnrichmentRB11.68
211Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.68
212Dedifferentiated liposarcomaEnrichmentCDK41.68
213Poretti-boltshauser syndromeEnrichmentLAMA11.68
214Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.68
215Atypical teratoid rhabdoid tumorEnrichmentTP531.68
216Anaplastic astrocytomaEnrichmentTP531.68
217T-cell acute lymphoblastic leukemiaEnrichmentBAX1.68
218AdenocarcinomaEnrichmentTP531.68
219Hematuria, benign familial, 2EnrichmentCOL4A31.68
220Laryngeal squamous cell carcinomaEnrichmentPTEN1.68
221Well-differentiated liposarcomaEnrichmentCDK41.68
222KeratoacanthomaEnrichmentPIK3CA1.68
223Lama2-related muscular dystrophyEnrichmentLAMA21.68
224Lung cancerEnrichmentCASP8, PIK3CA1.67
225Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A3, LAMA51.62
226SchizencephalyEnrichmentCOL4A11.55
227Thyroid cancer, nonmedullary, 1EnrichmentTP531.55
228Lynch syndrome 4EnrichmentRB11.55
229Mantle cell lymphomaEnrichmentCCND11.55
230Lung sarcomatoid carcinomaEnrichmentTP531.55
231Cerebrovascular diseaseEnrichmentPIK3CA1.55
232Embryonal rhabdomyosarcomaEnrichmentTP531.55
233Familial cerebral cavernous malformationsEnrichmentPIK3CA1.55
234Silver-russell syndrome due to a point mutationEnrichmentCDKN1C1.55
235Primary hyperparathyroidismEnrichmentCDKN1B1.55
236GliomaEnrichmentPTEN1.55
237Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A61.55
238Cerebral palsyEnrichmentCOL4A1, COL4A21.51
239Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.46
240Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC31.46
241Capillary malformations, congenitalEnrichmentPIK3CA1.46
242Von hippel-lindau syndromeEnrichmentCCND11.46
243Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.46
244Rhabdomyosarcoma 2EnrichmentTP531.46
245Macrocephaly/autism syndromeEnrichmentPTEN1.46
246Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA21.46
247Follicular lymphomaEnrichmentBCL21.46
248LymphomaEnrichmentTP531.46
249HemangiomaEnrichmentPTEN1.46
250Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.46
251Herpes simplex virus encephalitisEnrichmentTRAF31.46
252Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.38
253Li-fraumeni syndromeEnrichmentTP531.38
254Hemihyperplasia, isolatedEnrichmentPIK3CA1.38
255Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA61.38
256Anterior segment dysgenesis 5EnrichmentCOL4A11.38
257KeratoconusEnrichmentCOL4A11.38
258Adrenocortical carcinomaEnrichmentTP531.38
259Lung squamous cell carcinomaEnrichmentPIK3CA1.38
260ThrombocytopeniaEnrichmentCYCS, ITGA2B1.34
261Esophageal cancerEnrichmentTP531.31
262Nevus, epidermalEnrichmentPIK3CA1.31
263Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.31
264Glanzmann thrombasthenia 1EnrichmentITGA2B1.31
265Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.31
266Essential thrombocythemiaEnrichmentTP531.31
267Common variable immunodeficiencyEnrichmentNFKB11.31
268Follicular thyroid carcinomaEnrichmentPTEN1.31
269Overgrowth syndromeEnrichmentPIK3R11.31
270Hereditary clear cell renal cell carcinomaEnrichmentFHIT1.31
271B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.31
272Glioma susceptibility 1EnrichmentTP531.26
273Lymphoma, non-hodgkin, familialEnrichmentTP531.26
274Congenital muscular dystrophyEnrichmentLAMA21.26
275Coronary heart disease 5EnrichmentIKBKG1.21
276Arteriovenous malformationEnrichmentPIK3CA1.21
277Primary hyperaldosteronismEnrichmentTP531.21
278Peters-plus syndromeEnrichmentCOL4A11.16
279Amelogenesis imperfecta, type ieEnrichmentLAMB31.16
280Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.16
281Ciliary dyskinesia, primary, 3EnrichmentNFKB11.16
282PolymicrogyriaEnrichmentAKT31.16
283MelanomaEnrichmentPTEN1.16
284Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B1.16
285Familial colorectal cancerEnrichmentTP531.16
286Xeroderma pigmentosum, variant typeEnrichmentDDB21.12
287Meningioma, familialEnrichmentPTEN1.12
288Myelodysplastic syndromeEnrichmentTP531.12
289Lung non-small cell carcinomaEnrichmentPIK3CA1.12
290Uterine corpus cancerEnrichmentPTEN1.12
291Presynaptic congenital myasthenic syndromesEnrichmentLAMA51.12
292Microphthalmia/coloboma 12EnrichmentRARB1.05
293Neural tube defectsEnrichmentITGB11.05
294Amelogenesis imperfectaEnrichmentLAMB31.05
295Nk-cell enteropathyEnrichmentPIK3CB1.05
296PheochromocytomaEnrichmentMAX1.02
297Walker-warburg syndromeEnrichmentCOL4A11.02
298Isolated macular dystrophyEnrichmentCOL4A51.02
299Coloboma of maculaEnrichmentRARB1.00
300Corpus callosum, agenesis ofEnrichmentCOL4A11.00
301MyopiaEnrichmentCOL4A41.00
302Anterior segment dysgenesisEnrichmentCOL4A11.00
303Atypical hemolytic-uremic syndromeEnrichmentCOL4A51.00
304Lynch syndromeEnrichmentPIK3CA1.00
305Isolated corpus callosum agenesisEnrichmentCOL4A11.00
306Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A11.00
307Creatine phosphokinase, elevated serumEnrichmentLAMA20.97
308Isolated elevated serum creatine phosphokinase levelsEnrichmentLAMA20.97
309Beckwith-wiedemann syndromeEnrichmentCDKN1C0.92
310Polycystic kidney diseaseEnrichmentCOL4A40.92
311Williams-beuren syndromeEnrichmentCDKN1C0.88
312HepatoblastomaEnrichmentTP530.86
313Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.86
314MicrophthalmiaEnrichmentRARB0.84
315Multisystem inflammatory syndrome in childrenEnrichmentTRAF30.84
316Diamond-blackfan anemia 1EnrichmentTP530.82
317Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.82
318Pancreatic cancerEnrichmentTP530.79
319Severe covid-19EnrichmentITGAV0.73
320Primary autosomal recessive microcephalyEnrichmentCDK60.69
321Severe combined immunodeficiencyEnrichmentIKBKB0.68
322CakutEnrichmentCOL4A10.67
323Diamond-blackfan anemiaEnrichmentTP530.65
324Leukemia, acute myeloidEnrichmentTP530.61
325Charcot-marie-tooth diseaseEnrichmentLAMA20.60
326Type 2 diabetes mellitusEnrichmentAKT20.59
327HypertelorismEnrichmentPIK3CA0.51
328Familial isolated dilated cardiomyopathyEnrichmentLAMA40.50
329SchizophreniaEnrichmentFHIT0.46
330AutismEnrichmentFHIT0.40
331Rare genetic deafnessEnrichmentCOL4A50.37
332Dilated cardiomyopathyEnrichmentLAMA20.36
333Congenital nervous system abnormalityEnrichmentPTEN0.28
334Nervous system diseaseEnrichmentPTEN0.28
335Autism spectrum disorderEnrichmentPTEN0.27
336MicrocephalyEnrichmentCOL4A10.23
337Hereditary retinal dystrophyEnrichmentLAMA10.06
338Fundus dystrophyEnrichmentLAMA10.06

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