Deubiquitination

No Pathway Network information available for Deubiquitination

Pathways in the Deubiquitination SuperPath

#NameSourceGenes
1DeubiquitinationReactome
(see all 279) (see less)
2Ub-specific processing proteasesReactome

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

Disorders associated with Deubiquitination SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR25.07
2Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFBR1, TGFBR24.69
3Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.65
4Singleton-merten syndromeEnrichmentIFIH1, RIGI3.65
5Gastric cancerEnrichmentAPC, BARD1, BRCA1, PTEN, SMAD4, TP533.64
6Primary hyperaldosteronismEnrichmentTP53, USP48, USP83.59
7Hereditary breast carcinomaEnrichmentAPC, BARD1, BRCA1, ESR1, PTEN, TP533.58
8Inherited cancer-predisposing syndromeEnrichmentABRAXAS1, APC, AXIN2, BAP1, BARD1, BRCA1, CYLD, PTEN, SMAD4, TP533.40
9Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.38
10Nasopharyngeal carcinomaEnrichmentNFKBIA, TP533.18
11Breast cancerEnrichmentABRAXAS1, APC, BARD1, BRCA1, ESR1, PTEN, TP533.06
12Myeloma, multipleEnrichmentBAP1, BARD1, CYLD, H2AC16, H2AC17, TP533.01
13Ovarian cancerEnrichmentAPC, AR, AXIN2, BARD1, BRCA1, PRKN, PTEN, TP532.95
14Aortic aneurysmEnrichmentSMAD3, TGFBR12.88
15Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD4, TGFBR1, TGFBR22.70
16Acute megakaryocytic leukemiaEnrichmentPTEN, TP532.66
17Prostate cancerEnrichmentAR, BRCA1, PTEN, TP532.56
18Li-fraumeni syndromeEnrichmentMDM2, TP532.49
19RhabdomyosarcomaEnrichmentBRCA1, PTEN, TP532.40
20Squamous cell carcinoma, head and neckEnrichmentPTEN, TP532.35
21Gallbladder cancerEnrichmentSMAD4, TP532.35
22Hereditary breast ovarian cancer syndromeEnrichmentBARD1, BRCA1, PTEN, RIPK1, TP532.27
23Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK1, TGFB12.22
24Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK1, TGFB12.22
25Adult hepatocellular carcinomaEnrichmentAXIN1, TP532.13
26Esophageal cancerEnrichmentTGFBR2, TP532.08
27Endometrial cancerEnrichmentBARD1, BRCA1, PTEN2.06
28HepatoblastomaEnrichmentAPC, BARD1, TP532.06
29Colorectal cancerEnrichmentAPC, AXIN2, BRCA1, EP300, SMAD4, TP532.04
30Hepatocellular carcinomaEnrichmentAPC, AXIN1, TP532.00
31Glioma susceptibility 1EnrichmentBAP1, TP531.96
32Male infertilityEnrichmentAR, CFTR, USP261.85
33Pancreatic cancerEnrichmentBRCA1, SMAD4, TP531.85
34Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.82
35Spermatogenic failure, x-linked, 6EnrichmentUSP261.82
36Prostate cancer, hereditary, x-linked 3EnrichmentAR1.82
37Vacterl association with hydrocephalusEnrichmentPTEN1.82
38Androgen insensitivity, partialEnrichmentAR1.82
39Intellectual developmental disorder, x-linked 99EnrichmentUSP9X1.82
40Incontinentia pigmentiEnrichmentIKBKG1.82
41Microphthalmia, syndromic 8EnrichmentSNX31.82
42Oligodontia-colorectal cancer syndromeEnrichmentAXIN21.82
43Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.82
44Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.82
45Caudal duplication anomalyEnrichmentAXIN11.82
46Singleton-merten syndrome 1EnrichmentIFIH11.82
47Frontometaphyseal dysplasia 2EnrichmentMAP3K71.82
48Accelerated tumor formationEnrichmentMDM21.82
49Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.82
50Immunodeficiency 95EnrichmentIFIH11.82
51Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC201.82
52Lessel-kubisch syndromeEnrichmentMDM21.82
53Bone marrow failure syndrome 6EnrichmentMDM41.82
54Bone marrow failure syndrome 5EnrichmentTP531.82
55Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.82
56Stankiewicz-isidor syndromeEnrichmentPSMD121.82
57Papilloma of choroid plexusEnrichmentTP531.82
58Basal cell carcinoma 7EnrichmentTP531.82
59Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X1.82
60Type 1 diabetes mellitus 19EnrichmentIFIH11.82
61Anaplastic thyroid carcinomaEnrichmentTP531.82
62Papillary tumor of the pineal regionEnrichmentPTEN1.82
63Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.82
64Loeys-dietz syndrome 6EnrichmentSMAD21.82
65Colorectal cancer 3EnrichmentSMAD71.82
66Glioma susceptibility 2EnrichmentPTEN1.82
67Deafness, autosomal dominant 85EnrichmentUSP481.82
68Ductal carcinoma in situEnrichmentTP531.82
69Deafness, autosomal dominant 75EnrichmentTRRAP1.82
70Singleton-merten syndrome 2EnrichmentRIGI1.82
71Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP1.82
72Pseudo-torch syndrome 2EnrichmentUSP181.82
73Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.82
74Thyroid gland undifferentiated carcinomaEnrichmentTP531.82
75Autosomal recessive spastic paraplegia type 60EnrichmentWDR481.82
76Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.82
77Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.82
78Aicardi-goutieres syndrome 7EnrichmentIFIH11.82
79Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.82
80Heritable thoracic aortic diseaseEnrichmentSMAD41.82
81Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X1.82
82Autosomal recessive spastic paraplegia type 59EnrichmentUSP81.82
83Epilepsy, idiopathic generalized 19EnrichmentUSP251.82
84Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.82
85Aquagenic palmoplantar keratodermaEnrichmentCFTR1.82
86Choroid plexus cancerEnrichmentTP531.82
87Complete androgen insensitivity syndromeEnrichmentAR1.82
88Pleomorphic xanthoastrocytomaEnrichmentTP531.82
89Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.82
90Marfan syndromeEnrichmentTGFBR1, TGFBR21.77
91Myelodysplastic syndromeEnrichmentASXL1, TP531.69
92Uterine corpus cancerEnrichmentBRCA1, PTEN1.69
93Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.69
94TorticollisEnrichmentACTL6A1.69
95Baraitser-winter syndrome 1EnrichmentACTB1.69
96Cinca syndromeEnrichmentNLRP31.69
97Keratoendotheliitis fugax hereditariaEnrichmentNLRP31.69
98Melanoma, uveal 2EnrichmentBAP11.69
99Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.69
100Familial cold autoinflammatory syndrome 1EnrichmentNLRP31.69
101Leprosy 2EnrichmentPRKN1.69
102Blau syndromeEnrichmentNOD21.69
103Muckle-wells syndromeEnrichmentNLRP31.69
104Shashi-pena syndromeEnrichmentASXL21.69
105Deafness, autosomal dominant 34, with or without inflammationEnrichmentNLRP31.69
106Bone marrow failure syndrome 4EnrichmentMYSM11.69
107Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.69
108Immunodeficiency 132aEnrichmentTRAF31.69
109Immunodeficiency 132bEnrichmentTRAF31.69
110Multiple congenital anomalies-neurodevelopmental syndrome, x-linkedEnrichmentOTUD51.69
111Infant-type hemispheric gliomaEnrichmentBRCA11.69
112Becker nevus syndromeEnrichmentACTB1.69
113Dystonia-deafness syndrome 1EnrichmentACTB1.69
114Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.69
115Parkinson disease 5, autosomal dominantEnrichmentUCHL11.69
116Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.69
117Mbd5 haploinsufficiencyEnrichmentMBD51.69
118Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.69
119Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.69
120Neurodevelopmental disorder with hypotonia and seizuresEnrichmentOTUD7A1.69
121Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.69
122Multisystem proteinopathyEnrichmentVCP1.69
123Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeEnrichmentBRCC31.69
124Baraitser-winter syndromeEnrichmentACTB1.69
125Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.69
126Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP31.69
127Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndromeEnrichmentMYSM11.69
128Familial adenomatous polyposisEnrichmentAPC1.69
129Congenital smooth muscle hamartomaEnrichmentACTB1.69
130Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.69
131Cryopyrin associated periodic syndromeEnrichmentNLRP31.69
132Familial amyloid nephropathy with urticaria and deafnessEnrichmentNLRP31.69
133Gardner syndromeEnrichmentAPC1.69
1345q22 microdeletion syndromeEnrichmentAPC1.69
135Attenuated familial adenomatous polyposisEnrichmentAPC1.69
136Primary peritoneal carcinomaEnrichmentBRCA11.69
137Bladder cancerEnrichmentBRCA1, PTEN, TP531.67
138GliosarcomaEnrichmentNFKBIA, TP531.63
139Early-onset parkinson's diseaseEnrichmentPRKN, UCHL11.61
140MeningiomaEnrichmentBAP1, PTEN1.61
141Autism spectrum disorderEnrichmentASXL1, ASXL2, MBD5, PRKN, PTEN, RNF1351.60
142Polycystic liver diseaseEnrichmentCDC25A, RUVBL11.58
143Giant cell glioblastomaEnrichmentNFKBIA, TP531.58
144Autosomal dominant polycystic liver diseaseEnrichmentCDC25A, RUVBL11.58
145Spinocerebellar ataxia 7EnrichmentATXN71.53
146Burkitt lymphomaEnrichmentMYC1.53
147Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.53
148Cylindromatosis, familialEnrichmentCYLD1.53
149Myhre syndromeEnrichmentSMAD41.53
150Adrenocortical carcinoma, hereditaryEnrichmentTP531.53
151Pituitary adenoma 4, acth-secretingEnrichmentUSP81.53
152Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.53
153Spermatogenic failure, y-linked, 2EnrichmentCFTR1.53
154Trichoepithelioma, multiple familial, 1EnrichmentCYLD1.53
155Cervical cancerEnrichmentTP531.53
156Immunodeficiency 33EnrichmentIKBKG1.53
157Xeroderma pigmentosum, complementation group eEnrichmentDDB21.53
158Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.53
159Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.53
160Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentKEAP11.53
161Lymphoma, hodgkin, classicEnrichmentTP531.53
162Loeys-dietz syndrome 3EnrichmentSMAD31.53
163Immunodeficiency, common variable, 15EnrichmentRUVBL11.53
164Birk-aharoni syndromeEnrichmentPSMC11.53
16546,xy sex reversal 1EnrichmentAR1.53
166Androgen insensitivity syndromeEnrichmentAR1.53
167Frontotemporal dementia and/or amyotrophic lateral sclerosis 8EnrichmentCYLD1.53
168Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.53
169Brooke-spiegler syndromeEnrichmentCYLD1.53
170Hypospadias 1, x-linkedEnrichmentAR1.53
171Congenital fibrosarcomaEnrichmentTP531.53
172Li-fraumeni syndrome 1EnrichmentTP531.53
173SarcomaEnrichmentTP531.53
174Cervix carcinomaEnrichmentTP531.53
175Hodgkin's lymphomaEnrichmentTP531.53
176B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.53
177Hao-fountain syndromeEnrichmentUSP71.53
178Chromosome 2p16.1-p15 deletion syndromeEnrichmentUSP341.53
179Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.53
180Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.53
181Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.53
18217q24.2 microdeletion syndromeEnrichmentPSMD121.53
183Basal ganglia diseaseEnrichmentIFIH11.53
184Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.53
185Vacterl with hydrocephalusEnrichmentPTEN1.53
186Posterior hypospadiasEnrichmentAR1.53
187Juvenile polyposis of infancyEnrichmentPTEN1.53
188Xeroderma pigmentosum group eEnrichmentDDB21.53
189Pleomorphic rhabdomyosarcomaEnrichmentTP531.53
190Submucosal cleft palateEnrichmentUBB1.53
191Cleft hard palateEnrichmentUBB1.53
192Diffuse large b-cell lymphomaEnrichmentPTEN, TP531.49
193Lung cancer susceptibility 3EnrichmentPRKN, TP531.49
194Lynch syndromeEnrichmentCFTR, TGFBR21.43
195Camurati-engelmann disease 1EnrichmentTGFB11.39
196Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphismEnrichmentBRCC31.39
197Parkinson disease 12EnrichmentPRKN1.39
198Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.39
199Microvascular complications of diabetes 5EnrichmentTGFBR21.39
200Yao syndromeEnrichmentNOD21.39
201Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP31.39
202Spastic paraplegia 79b, autosomal recessiveEnrichmentUCHL11.39
203Gabriele-de vries syndromeEnrichmentYY11.39
204Fanconi anemia, complementation group sEnrichmentBRCA11.39
205Menke-hennekam syndrome 2EnrichmentEP3001.39
206Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.39
207Bohring-opitz syndromeEnrichmentASXL11.39
208Pancreatic cancer 4EnrichmentBRCA11.39
209Hereditary spastic paraplegia 79aEnrichmentUCHL11.39
210Camurati-engelmann diseaseEnrichmentTGFB11.39
211Ocular melanomaEnrichmentBAP11.39
212Pericardial effusionEnrichmentNLRP31.39
213Spastic paraplegia 79a, autosomal dominant, with ataxiaEnrichmentUCHL11.39
214Microcephaly-capillary malformation syndromeEnrichmentSTAMBP1.39
215Developmental and epileptic encephalopathy 78EnrichmentYY11.39
216Periampullary adenomaEnrichmentAPC1.39
217Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.39
218InsulinomaEnrichmentYY11.39
219Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.39
220Inflammatory breast carcinomaEnrichmentBRCA11.39
221Kury-isidor syndromeEnrichmentBAP11.39
222Peritoneum cancerEnrichmentBRCA11.39
223Bilateral breast cancerEnrichmentBRCA11.39
224Crohn's diseaseEnrichmentNOD21.39
225Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP1.39
226Juvenile polyposis syndromeEnrichmentSMAD41.35
227Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.35
228Uvula, bifidEnrichmentUBB1.35
229Nuchal bleb, familialEnrichmentCFTR1.35
230Osteogenic sarcomaEnrichmentTP531.35
231Cleft soft palateEnrichmentUBB1.35
232Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.35
233Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC121.35
234High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.35
235Dedifferentiated liposarcomaEnrichmentMDM21.35
236Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.35
237Atypical teratoid rhabdoid tumorEnrichmentTP531.35
238Anaplastic astrocytomaEnrichmentTP531.35
239Frontometaphyseal dysplasiaEnrichmentMAP3K71.35
240Squamous cell carcinomaEnrichmentTP531.35
241AdenocarcinomaEnrichmentTP531.35
242End stage renal diseaseEnrichmentGATA31.35
243Laryngeal squamous cell carcinomaEnrichmentPTEN1.35
244Bone osteosarcomaEnrichmentTP531.35
245Well-differentiated liposarcomaEnrichmentMDM21.35
246EnchondromatosisEnrichmentHIF1A1.35
247Thyroid hemiagenesisEnrichmentPSMD31.35
248Hyperpigmentation of the skinEnrichmentUSP9X1.35
249Ehlers-danlos syndromeEnrichmentSMAD3, TGFBR21.24
250Parkinson's diseaseEnrichmentATXN3, PRKN1.24
251Small cell cancer of the lungEnrichmentTP531.23
252Thyroid cancer, nonmedullary, 1EnrichmentTP531.23
253Lung sarcomatoid carcinomaEnrichmentTP531.23
254Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentPTRH21.23
255Embryonal rhabdomyosarcomaEnrichmentTP531.23
256Idiopathic bronchiectasisEnrichmentCFTR1.23
257GliomaEnrichmentPTEN1.23
258Desmoid disease, hereditaryEnrichmentAPC1.22
259Mesothelioma, malignantEnrichmentBAP11.22
260Combined cellular and humoral immune defects with granulomasEnrichmentINO801.22
261Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentHCFC11.22
262Neurodegeneration with brain iron accumulation 5EnrichmentOTUD51.22
263Estrogen resistanceEnrichmentESR11.22
264Cenani-lenz syndactyly syndromeEnrichmentAPC1.22
265Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentRNF1351.22
266Tumor predisposition syndrome 1EnrichmentBAP11.22
267Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP1.22
268Umbilical herniaEnrichmentACTL6A1.22
269Desmoid tumorEnrichmentAPC1.22
270Migraine without auraEnrichmentESR11.22
271Bap1 tumor predisposition syndromeEnrichmentBAP11.22
272Colon adenocarcinomaEnrichmentAPC1.22
273Apc-associated polyposis conditionsEnrichmentAPC1.22
274Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.14
275Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC31.14
276Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.14
277Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.14
278Rhabdomyosarcoma 2EnrichmentTP531.14
279Macrocephaly/autism syndromeEnrichmentPTEN1.14
280Spastic diplegiaEnrichmentIFIH11.14
281LymphomaEnrichmentTP531.14
282HemangiomaEnrichmentPTEN1.14
283HemimegalencephalyEnrichmentPTEN1.14
284Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.14
285Myocardial infarctionEnrichmentESR1, PSMA61.13
286Multisystem inflammatory syndrome in childrenEnrichmentIFIH1, TRAF31.13
287Intellectual developmental disorder, autosomal dominant 1EnrichmentMBD51.10
288Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA11.10
289CholangiocarcinomaEnrichmentBRCA11.10
290Aminoacylase 1 deficiencyEnrichmentACTB1.10
291Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.10
292Chronic myelomonocytic leukemiaEnrichmentASXL11.10
293CraniopharyngiomaEnrichmentAPC1.10
294Systemic mastocytosis with associated hematologic neoplasmEnrichmentASXL11.10
295Complex hereditary spastic paraplegiaEnrichmentPRKN1.10
296Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.10
297Developmental dysplasia of the hip 1EnrichmentPSMC31.06
298Cowden syndrome 1EnrichmentPTEN1.06
299Patent ductus arteriosusEnrichmentPSMC31.06
300Adrenocortical carcinomaEnrichmentTP531.06
301Breast adenocarcinomaEnrichmentTP531.06
302Classic ehlers-danlos syndromeEnrichmentTGFBR11.06
303Parkinson disease, late-onsetEnrichmentATXN3, PRKN1.06
304Autoinflammatory diseaseEnrichmentNLRP3, NOD21.06
305Dementia, lewy bodyEnrichmentVCP1.01
306Parkinson disease 2, autosomal recessive juvenileEnrichmentPRKN1.01
307Breast-ovarian cancer, familial 2EnrichmentBRCA11.01
308Familial adenomatous polyposis 1EnrichmentAPC1.01
309Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP1.01
310Rubinstein-taybi syndrome 2EnrichmentEP3001.01
311Parkin type of early-onset parkinson diseaseEnrichmentPRKN1.01
3122q23.1 microduplication syndromeEnrichmentMBD51.01
313Herpes simplex virus encephalitisEnrichmentTRAF31.01
314Aggressive systemic mastocytosisEnrichmentASXL11.01
315Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.00
316Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.00
317Essential thrombocythemiaEnrichmentTP531.00
318Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.00
319Follicular thyroid carcinomaEnrichmentPTEN1.00
320B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.00
321Lymphoma, non-hodgkin, familialEnrichmentTP530.94
322Isolated split hand-split foot malformationEnrichmentSEM10.94
323Difference of sex developmentEnrichmentAR0.94
324Melanoma, uvealEnrichmentBAP10.93
325Machado-joseph diseaseEnrichmentATXN30.93
326Rubinstein-taybi syndrome 1EnrichmentEP3000.93
327Hemihyperplasia, isolatedEnrichmentRHOA0.93
328Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3000.93
329Inguinal herniaEnrichmentACTL6A0.93
330Clear cell renal cell carcinomaEnrichmentBAP10.93
331HypertrichosisEnrichmentASXL10.93
332Tooth agenesis, selective, 1EnrichmentAXIN20.90
333Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR0.90
334Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR0.90
335Coronary heart disease 5EnrichmentIKBKG0.90
336Cowden syndromeEnrichmentPTEN0.90
337Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.90
338Aicardi-goutiares syndromeEnrichmentIFIH10.90
339Leukemia, chronic lymphocyticEnrichmentTP530.85
340Aicardi-goutieres syndromeEnrichmentIFIH10.85
341PolymicrogyriaEnrichmentPSMC30.85
342MelanomaEnrichmentPTEN0.85
343Familial colorectal cancerEnrichmentTP530.85
344Lung cancerEnrichmentBRCA1, PRKN0.85
345Cystic fibrosisEnrichmentCFTR, TGFB10.85
346Connective tissue diseaseEnrichmentSMAD3, TGFBR20.85
347Pectus excavatumEnrichmentTGFBR10.82
348Immune deficiency diseaseEnrichmentRIPK10.82
349Xeroderma pigmentosum, variant typeEnrichmentDDB20.82
350Meningioma, familialEnrichmentPTEN0.82
35146,xy complete gonadal dysgenesisEnrichmentAR0.82
352Gastroesophageal refluxEnrichmentACTL6A0.81
353Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC10.81
354Ewing sarcomaEnrichmentBAP10.81
355Digeorge syndromeEnrichmentUFD10.78
356Lip and oral cavity carcinomaEnrichmentTP530.78
357Non-syndromic x-linked intellectual disabilityEnrichmentHCFC1, USP9X0.77
358Charge syndromeEnrichmentEP3000.77
359Inflammatory bowel disease 1EnrichmentNOD20.77
360Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentASXL10.77
361Progressive non-fluent aphasiaEnrichmentVCP0.77
362Colonic benign neoplasmEnrichmentAPC0.77
363Behavioral variant of frontotemporal dementiaEnrichmentVCP0.77
364Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentTRRAP, USP480.74
365Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP0.73
366Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.72
367Hereditary chronic pancreatitisEnrichmentCFTR0.72
368Systemic lupus erythematosusEnrichmentTNFAIP3, TNIP10.72
369Leukemia, acute myeloidEnrichmentASXL1, TP530.70
370Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, CFTR0.69
371Migraine with or without aura 1EnrichmentESR10.69
372Atrial heart septal defectEnrichmentACTL6A0.69
373Interatrial communicationEnrichmentACTL6A0.69
374Juvenile myelomonocytic leukemiaEnrichmentASXL10.66
375Pancreatitis, hereditaryEnrichmentCFTR0.65
376Breast-ovarian cancer, familial 1EnrichmentBRCA10.63
377Alzheimer's diseaseEnrichmentVCP0.63
378Patent foramen ovaleEnrichmentPSMC30.62
379MicrocephalyEnrichmentACTB, ASXL1, EP300, PSMC30.61
380Complex neurodevelopmental disorderEnrichmentACTL6A, BAP1, OTUD5, PSMD120.60
381MedulloblastomaEnrichmentAPC0.60
382Periventricular nodular heterotopiaEnrichmentBRCA10.60
383Renal cell carcinoma, nonpapillaryEnrichmentBAP10.57
384Polydactyly, postaxial, type a1EnrichmentEP3000.57
385Rare genetic intellectual disabilityEnrichmentEP3000.57
386Tooth agenesisEnrichmentAXIN20.55
387Isolated congenital microcephalyEnrichmentINO800.55
388Diamond-blackfan anemia 1EnrichmentTP530.53
389MalariaEnrichmentIKBKG0.53
390Non-syndromic male infertility due to sperm motility disorderEnrichmentUSP260.53
391Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.53
392Alzheimer disease, familial, 1EnrichmentVCP0.53
393Melanoma, cutaneous malignant 1EnrichmentBAP10.53
394Arteriovenous malformations of the brainEnrichmentNLRP30.49
395Behcet syndromeEnrichmentNOD20.49
396Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentVCP0.49
397SchizophreniaEnrichmentMBD5, PRKN0.46
398Hirschsprung disease 1EnrichmentAXIN20.45
399CakutEnrichmentGATA30.40
400Diamond-blackfan anemiaEnrichmentTP530.38
401AutismEnrichmentMBD5, PRKN0.36
402ThrombocytopeniaEnrichmentSMAD40.29
403Fanconi anemia, complementation group aEnrichmentBRCA10.29
404Autosomal dominant non-syndromic intellectual disabilityEnrichmentMBD50.19
405Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentVCP0.15
406Congenital nervous system abnormalityEnrichmentPTEN0.10
407Nervous system diseaseEnrichmentPTEN0.10
408Retinitis pigmentosaEnrichmentTFPT0.01

Loading...
Loading...
Loading...