Signaling by Rho GTPases

Pathway network for the Signaling by Rho GTPases SuperPath

Sources:
  • Reactome

Pathways in the Signaling by Rho GTPases SuperPath

#NameSourceGenes
1Signaling by Rho GTPasesReactome
(see all 702) (see less)
2Signaling by Rho GTPases, Miro GTPases and RHOBTB3Reactome
(see all 718) (see less)
3RHO GTPase cycleReactome
(see all 445) (see less)
4RHO GTPase EffectorsReactome
(see all 326) (see less)

Gene overlap in member pathways for Signaling by Rho GTPases SuperPath

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

Disorders associated with Signaling by Rho GTPases SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1LissencephalyEnrichmentACTG1, DYNC1H1, PAFAH1B1, TUBA1A, TUBA3E, TUBB2B, TUBB36.42
2Mosaic variegated aneuploidy syndromeEnrichmentBUB1, BUB1B, BUB1B-PAK6, BUB3, MAD1L1, PAK66.32
3Chronic granulomatous diseaseEnrichmentCYBA, CYBB, NCF1, NCF2, NCF46.04
4Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C94.86
5Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB34.86
6Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B, BUB1B-PAK6, MAD1L1, PAK64.47
7Neural tube defectsEnrichmentDLC1, ITGB1, SCRIB, VANGL1, VANGL24.42
8Genetic steroid-resistant nephrotic syndromeEnrichmentANKFY1, ANLN, ARHGAP24, ARHGDIA, NUP107, NUP133, NUP160, NUP37, NUP854.38
9TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B4.27
10Inflammatory myofibroblastic tumorEnrichmentCLTC, RANBP2, TPM3, TPM44.01
11MicrocephalyEnrichmentABL1, ACTB, ACTG1, CTNNB1, DIAPH1, DYNC1H1, MAPK1, NUF2, PAK3, TUBB4A, YWHAG3.74
12Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB33.58
13Aortic aneurysm, familial thoracic 4EnrichmentMYH11, NDE13.24
14Wiskott-aldrich syndromeEnrichmentWAS, WIPF13.24
15Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH11, NDE13.24
16Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP1, NCKAP1L3.24
17Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C33.24
18Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C113.24
19Visceral myopathy 2EnrichmentMYH11, NDE13.24
20Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.24
21Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.24
22Immunodeficiency 72EnrichmentNCKAP1, NCKAP1L3.24
23Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.15
24Primary autosomal recessive microcephalyEnrichmentCENPE, CIT, KIF14, KNL1, NUP373.04
25Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, TPM4, TUBA8, TUBB12.93
26Robinow syndrome, autosomal dominant 2EnrichmentCHN1, DVL1, DVL32.89
27Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH9, TUBB12.77
28Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF1, NCF22.77
29Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B1, YWHAE2.77
30Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B1, YWHAE2.77
31Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C52.77
32Cellular ependymomaEnrichmentMEN1, NF22.77
33Tanycytic ependymomaEnrichmentMEN1, NF22.77
34Papillary ependymomaEnrichmentMEN1, NF22.77
35Tricuspid valve insufficiencyEnrichmentMYH11, NDE12.77
36Clear cell ependymomaEnrichmentMEN1, NF22.77
37Complex neurodevelopmental disorderEnrichmentCUL3, DLG4, DOCK3, H4C3, H4C5, H4C9, HNRNPC, MYH10, PAK3, PLXNA1, PPP2CA, RAC3, SPTBN1, TIAM1, WASF12.73
38Alagille syndrome 1EnrichmentFAM13A, JAG12.50
39Nuchal bleb, familialEnrichmentCFTR, SOS12.50
40Hypercholanemia, familial 1EnrichmentDOCK6, TJP22.50
41Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R12.50
42Adams-oliver syndrome 1EnrichmentARHGAP31, DOCK62.50
43Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDLG4, DVL22.48
44Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL32.48
45Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYH11, MYLK2.48
46Granulomatous disease, chronic, x-linkedEnrichmentCYBB, NCF12.48
47Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC42, YWHAZ2.48
48Autosomal dominant robinow syndromeEnrichmentDVL1, DVL32.48
49Mitral valve insufficiencyEnrichmentMYH11, NDE12.48
50Primary hyperparathyroidismEnrichmentCDKN1B, MEN12.48
51Benign ependymomaEnrichmentMEN1, NF22.48
52Cerebral palsyEnrichmentADD3, ALDH3A2, ARHGAP31, KIDINS220, MFN2, TUBA1A, TUBB4A2.40
53Visceral myopathy 1EnrichmentMYH11, MYLK2.26
54Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL32.26
55Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R22.21
56Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, CENPP, DIAPH3, MYH14, MYH92.10
57Hyperpigmentation of the skinEnrichmentMFN2, USP9X2.09
58Autosomal recessive robinow syndromeEnrichmentDVL1, DVL32.09
59Intestinal pseudo-obstructionEnrichmentMYH11, NDE12.09
60Moebius syndromeEnrichmentCHN1, PLXND12.00
61Martsolf syndrome 1EnrichmentARHGAP35, ARHGAP52.00
62Auditory neuropathyEnrichmentDIAPH1, KIF5A, MFN2, RAB9B, TUBB4A1.97
63Multiple endocrine neoplasia, type iEnrichmentCDKN1B, MEN11.95
64Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B1.95
65Glioma susceptibility 1EnrichmentH3-3A, H3C11.83
66Fanconi anemia, complementation group cEnrichmentFLNA, TAOK11.83
67Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA1.83
68Chromosome 22q11.2 deletion syndrome, distalEnrichmentBCR, MAPK11.82
69Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, KIF5A, MFN2, VCP1.80
70Combined immunodeficiencyEnrichmentARPC1B, TFRC, ZAP701.78
71Combined t cell and b cell immunodeficiencyEnrichmentARPC1B, TFRC, ZAP701.78
72Combined t and b cell immunodeficiencyEnrichmentARPC1B, TFRC, ZAP701.78
73Cataract 44EnrichmentDNMBP, EPHA2, NHS1.77
74Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B1.73
75Familial thoracic aortic aneurysm and dissectionEnrichmentMYH11, MYLK1.73
76Noonan syndrome 3EnrichmentCLTC, SOS11.69
77Adams-oliver syndromeEnrichmentARHGAP31, DOCK61.69
78Galloway-mowat syndromeEnrichmentNUP107, NUP1331.64
79Granulomatous disease, chronic, autosomal recessive, 4EnrichmentCYBA1.62
80Baraitser-winter syndrome 1EnrichmentACTB1.62
81Prostate cancer, hereditary, x-linked 3EnrichmentAR1.62
82Thrombocytopenia 1EnrichmentWAS1.62
83Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.62
84Intellectual developmental disorder, x-linked 30EnrichmentPAK31.62
85Androgen insensitivity, partialEnrichmentAR1.62
86Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A1.62
87Immunodeficiency 34EnrichmentCYBB1.62
88Otopalatodigital syndrome, type iEnrichmentFLNA1.62
89Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA1.62
90Deafness, autosomal dominant 17EnrichmentMYH91.62
91Macular dystrophy, patterned, 2EnrichmentCTNNA11.62
92Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.62
93Schwannomatosis, vestibularEnrichmentNF21.62
94Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH11.62
95Amyotrophic lateral sclerosis 18EnrichmentPFN11.62
96Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.62
97Wiskott-aldrich syndrome 2EnrichmentWIPF11.62
98Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A1.62
99Premature chromatid separation traitEnrichmentBUB1B1.62
100Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.62
101Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.62
102Developmental delay with or without intellectual impairment or behavioral abnormalitiesEnrichmentTAOK11.62
103Noonan syndrome 13EnrichmentMAPK11.62
104Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.62
105Nephrotic syndrome, type 19EnrichmentNUP1601.62
106Knobloch syndrome 2EnrichmentPAK21.62
107Deafness, autosomal dominant 4aEnrichmentMYH141.62
108Terminal osseous dysplasiaEnrichmentFLNA1.62
109Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC201.62
110Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.62
111Houge-janssens syndrome 4EnrichmentPPP2R5C1.62
112Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.62
113Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B1.62
114Fg syndrome 2EnrichmentFLNA1.62
115Premature ovarian failure 2aEnrichmentDIAPH21.62
116Adrenal cortical adenomaEnrichmentMEN11.62
117Galloway-mowat syndrome 8EnrichmentNUP1331.62
118Isolated growth hormone deficiency type iiiEnrichmentBTK1.62
119Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.62
120Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.62
121Myoclonus, intractable, neonatalEnrichmentKIF5A1.62
122Auditory neuropathy, autosomal dominant 1EnrichmentDIAPH31.62
123Houge-janssens syndrome 2EnrichmentPPP2R1A1.62
124Amyotrophic lateral sclerosis 25EnrichmentKIF5A1.62
125Otopalatodigital syndrome spectrum disorderEnrichmentFLNA1.62
126Microcephaly 4, primary, autosomal recessiveEnrichmentKNL11.62
127Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.62
128Becker nevus syndromeEnrichmentACTB1.62
129MicrohydranencephalyEnrichmentNDE11.62
130Galloway-mowat syndrome 7EnrichmentNUP1071.62
131Dystonia-deafness syndrome 1EnrichmentACTB1.62
132Neuroendocrine tumorEnrichmentCDKN1B1.62
133Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.62
134Long qt syndrome 16EnrichmentCALM31.62
135Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.62
136Lissencephaly 4 with microcephalyEnrichmentNDE11.62
137Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH141.62
138Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.62
139Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.62
140Meckel syndrome, type 10EnrichmentB9D21.62
141Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.62
142Nephrotic syndrome, type 11EnrichmentNUP1071.62
143Dync1h1-related disordersEnrichmentDYNC1H11.62
144Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE1.62
145Thrombocytopenia 6EnrichmentSRC1.62
146Was-related disordersEnrichmentWAS1.62
147X-linked ehlers-danlos syndromeEnrichmentFLNA1.62
148Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH11.62
149Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.62
150Takenouchi-kosaki syndromeEnrichmentCDC421.62
151Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.62
152Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.62
153Microcephaly 20, primary, autosomal recessiveEnrichmentKIF141.62
154Ovarian dysgenesis 6EnrichmentNUP1071.62
155Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.62
156Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH11.62
157Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.62
158Short stature and microcephaly with genital anomaliesEnrichmentCENPT1.62
159Nephrotic syndrome, type 18EnrichmentNUP1331.62
160Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I21.62
161Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.62
162Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.62
163HydranencephalyEnrichmentNDE11.62
164Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.62
165Microcephaly 30, primary, autosomal recessiveEnrichmentBUB11.62
166Adenoid ameloblastomaEnrichmentCTNNB11.62
167Long qt syndrome 15EnrichmentCALM21.62
168Meckel syndrome 12EnrichmentKIF141.62
169Baraitser-winter syndromeEnrichmentACTB1.62
170Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.62
171Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L11.62
172Nde1-related microhydranencephalyEnrichmentNDE11.62
173Congenital myopathy 26EnrichmentTUBA4A1.62
174Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.62
175Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.62
176Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.62
177Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyEnrichmentKLC41.62
178Aquagenic palmoplantar keratodermaEnrichmentCFTR1.62
179Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.62
180Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.62
181Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.62
182Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.62
183Adrenal adenomaEnrichmentMEN11.62
184Acoustic neuromaEnrichmentNF21.62
185Complete androgen insensitivity syndromeEnrichmentAR1.62
186Congenital smooth muscle hamartomaEnrichmentACTB1.62
187Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.62
188Nocarh syndromeEnrichmentCDC421.62
189Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.62
190Familial acute necrotizing encephalopathyEnrichmentRANBP21.62
191X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA1.62
192Lissencephaly due to lis1 mutationEnrichmentPAFAH1B11.62
193Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.62
194Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.62
195Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A1.62
196Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.62
197Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.62
198Microcystic stromal tumorEnrichmentCTNNB11.62
199Immunodeficiency 47EnrichmentATP6AP1, VMA221.58
200Specific learning disabilityEnrichmentMAPK1, YWHAG1.56
201ThrombocytopeniaEnrichmentMYH9, SRC, TUBB1, WAS1.56
202Noonan syndrome 1EnrichmentPPP1CB, RRAS2, SOS1, SOS21.54
203Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA11.48
204Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB11.48
205MacrodactylyEnrichmentPIK3CA1.48
206Buschke-ollendorff syndromeEnrichmentLEMD31.48
207Hypoplastic left heart syndrome 1EnrichmentGJA11.48
208Ramon syndromeEnrichmentELMO21.48
209Intellectual developmental disorder, x-linked, syndromic, gustavson typeEnrichmentRBMX1.48
210Amyotrophic lateral sclerosis 2, juvenileEnrichmentALS21.48
211Intellectual developmental disorder, x-linked 99EnrichmentUSP9X1.48
212Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.48
213Nance-horan syndromeEnrichmentNHS1.48
214Autoinflammatory disease, multisystem, with immune dysregulation, x-linkedEnrichmentDOCK111.48
215Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP1.48
216Noonan syndrome 4EnrichmentSOS11.48
217Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.48
218Deafness, autosomal dominant 51EnrichmentTJP21.48
219Type 1 diabetes mellitus 21EnrichmentTAGAP1.48
220Spastic paralysis, infantile-onset ascendingEnrichmentALS21.48
221Megalencephaly, autosomal dominantEnrichmentPIK3CA1.48
222Oculodentodigital dysplasiaEnrichmentGJA11.48
223Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.48
224Deafness, autosomal dominant 22EnrichmentMYO61.48
225Congenital myopathy 4b, autosomal recessiveEnrichmentTPM31.48
226Developmental and epileptic encephalopathy 5EnrichmentSPTAN11.48
227Cowden syndrome 5EnrichmentPIK3CA1.48
228Cardiac valvular dysplasia 1EnrichmentPLD11.48
229Pseudohypoaldosteronism, type iieEnrichmentCUL31.48
230Noonan syndrome 9EnrichmentSOS21.48
231Hypogonadotropic hypogonadism 14 with or without anosmiaEnrichmentWDR111.48
232Focal segmental glomerulosclerosis 8EnrichmentANLN1.48
233Nephrotic syndrome, type 8EnrichmentARHGDIA1.48
234Charcot-marie-tooth disease, demyelinating, type 4hEnrichmentFGD41.48
235Greenberg dysplasiaEnrichmentLBR1.48
236Pulmonary hypertension, primary, 3EnrichmentCAV11.48
237Joubert syndrome 8EnrichmentARL13B1.48
238Pelger-huet anomalyEnrichmentLBR1.48
239Thrombocytopenia 2EnrichmentANKRD261.48
240Microcephaly 16, primary, autosomal recessiveEnrichmentANKLE21.48
241Spinal muscular atrophy, facioscapulohumeral typeEnrichmentPLEKHG51.48
242Spinal muscular atrophy, late-onset, finkel typeEnrichmentVAPB1.48
243Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA11.48
244Immunodeficiency 62EnrichmentARHGEF11.48
245Naxos diseaseEnrichmentJUP1.48
246Cerebral cavernous malformations 4EnrichmentPIK3CA1.48
247Immunodeficiency 87 and autoimmunityEnrichmentDEF61.48
248Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG11.48
249Ventriculomegaly and arthrogryposisEnrichmentKIDINS2201.48
250Retinal dystrophy with leukodystrophyEnrichmentACBD51.48
251Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.48
252Retinitis pigmentosa 78EnrichmentARHGEF181.48
253Intellectual developmental disorder, x-linked, syndromic, billuart typeEnrichmentOPHN11.48
254Intellectual developmental disorder, autosomal recessive 78EnrichmentWDR111.48
255Rhizomelic skeletal dysplasia with or without pelger-huet anomalyEnrichmentLBR1.48
256Bleeding disorder, platelet-type, 25EnrichmentTPM41.48
257Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP1.48
258Maple syrup urine disease, type iiEnrichmentDBT1.48
259Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunctionEnrichmentLETM11.48
260Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A1.48
261Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.48
262Immunodeficiency 48EnrichmentZAP701.48
263Short syndromeEnrichmentPIK3R11.48
264Mitochondrial complex i deficiency, nuclear type 8EnrichmentNDUFS31.48
265Charcot-marie-tooth disease type 2bEnrichmentRAB7A1.48
266Vascular malformation, primary intraosseousEnrichmentELMO21.48
267Deafness, autosomal recessive 37EnrichmentMYO61.48
268Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X1.48
269Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.48
270Deafness, dystonia, and cerebral hypomyelinationEnrichmentBCAP311.48
271Lowe oculocerebrorenal syndromeEnrichmentOCRL1.48
272Adult onset demyelinating leukodystrophyEnrichmentLMNB11.48
273Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN11.48
274Cerebral palsy, spastic quadriplegic, 3EnrichmentADD31.48
275Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA11.48
276Lipodystrophy, familial partial, type 7EnrichmentCAV11.48
277Charcot-marie-tooth disease type 4hEnrichmentFGD41.48
278Amyotrophic lateral sclerosis 8EnrichmentVAPB1.48
279Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.48
280Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2EnrichmentWDR811.48
281Hemifacial myohyperplasiaEnrichmentPIK3CA1.48
282Spondyloepimetaphyseal dysplasia, shohat typeEnrichmentDDRGK11.48
283Immunodeficiency 40EnrichmentDOCK21.48
284Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.48
285MicrolissencephalyEnrichmentWDR811.48
286Celiac disease 4EnrichmentMYO9B1.48
287Congenital disorder of glycosylation, type iiaaEnrichmentSTX51.48
288Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.48
289Immunodeficiency 46EnrichmentTFRC1.48
290Bleeding disorder, platelet-type, 15EnrichmentACTN11.48
291Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT21.48
292Microcephaly 26, primary, autosomal dominantEnrichmentLMNB11.48
293Radio-tartaglia syndromeEnrichmentSPEN1.48
294Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.48
295Reynolds syndromeEnrichmentLBR1.48
296Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.48
297Lipodystrophy, congenital generalized, type 4EnrichmentCAVIN11.48
298Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.48
299Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.48
300Immunodeficiency 22EnrichmentLCK1.48
301Neurodevelopmental disorder with or without autism or seizuresEnrichmentCUL31.48
302Als2-related disorderEnrichmentALS21.48
303Bile acid synthesis defect, congenital, 5EnrichmentABCD31.48
304Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA11.48
305Chilton-okur-chung neurodevelopmental syndromeEnrichmentCDC42BPB1.48
306Hydrocephalus, congenital, 3, with brain anomaliesEnrichmentWDR811.48
307Developmental and epileptic encephalopathy 64EnrichmentRHOBTB21.48
308Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG11.48
309Myasthenic syndrome, congenital, 24, presynapticEnrichmentMYO9A1.48
310Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM11.48
311Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulationEnrichmentRALGAPA11.48
312Intellectual developmental disorder, autosomal dominant 63, with macrocephalyEnrichmentTRIO1.48
313Peho-like syndromeEnrichmentCCDC88A1.48
314Multisystem proteinopathyEnrichmentVCP1.48
315Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaEnrichmentDOCK31.48
316Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.48
317Immunodeficiency 129EnrichmentRHOH1.48
318Melorheostosis with osteopoikilosisEnrichmentLEMD31.48
319Intellectual developmental disorder, autosomal dominant 74EnrichmentHNRNPC1.48
320Primary intraosseous venous malformationEnrichmentELMO21.48
321Dworschak-punetha neurodevelopmental syndromeEnrichmentPLXNA11.48
322Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN11.48
323Developmental delay with or without epilepsyEnrichmentSPTAN11.48
324Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.48
325Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN11.48
326Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X1.48
327HypospadiasEnrichmentPIK3CA1.48
328T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.48
329Autosomal dominant adult-onset proximal spinal muscular atrophyEnrichmentVAPB1.48
330Yuksel-vogel-bauer syndromeEnrichmentDLG51.48
331Congenital dyserythropoietic anemia type iiibEnrichmentRACGAP11.48
332Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.48
333Rare venous malformationEnrichmentPIK3CA1.48
334Diaphragmatic eventrationEnrichmentPIK3CA1.48
335Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.48
336Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.48
337Rare combined vascular malformationEnrichmentPIK3CA1.48
338Anemia, congenital dyserythropoietic, type iiib, autosomal recessiveEnrichmentRACGAP11.48
339Cavernous lymphangiomaEnrichmentPIK3CA1.48
340Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.48
341Isolated osteopoikilosisEnrichmentLEMD31.48
342Premature agingEnrichmentVIM1.48
343Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.48
344Eccrine angiomatous hamartomaEnrichmentPIK3CA1.48
345Autosomal dominant combined immunodeficiency due to erbin deficiencyEnrichmentERBIN1.48
346Congenital generalized hypercontractile muscle stiffness syndromeEnrichmentTPM31.48
347Macrodactyly of toeEnrichmentPIK3CA1.48
348Infantile-onset ascending hereditary spastic paralysisEnrichmentALS21.48
349Zap70-related severe combined immunodeficiencyEnrichmentZAP701.48
350Temporomandibular joint anomalyEnrichmentDOCK11.48
351Juvenile amyotrophic lateral sclerosisEnrichmentALS2, PLEKHG51.48
352Long qt syndrome 1EnrichmentCALM1, CALM2, CALM31.46
353Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B, WDR811.46
354RasopathyEnrichmentPPP1CB, RRAS2, SOS1, SOS21.37
355Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC, DOCK8, DYNC1H1, ITSN1, TAOK1, YWHAZ1.36
356Aortic aneurysm, familial thoracic 1EnrichmentMYH11, MYLK1.36
357Seckel syndromeEnrichmentCENPE, NUP851.36
358Leukemia, chronic myeloidEnrichmentABL1, BCR1.33
359Gallbladder cancerEnrichmentCTNNB1, PIK3CA1.33
360Moyamoya angiopathyEnrichmentABL1, ARHGEF251.33
361B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, BCR1.33
362Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.32
363Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.32
364Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP11.32
365Stromme syndromeEnrichmentCENPF1.32
366Lowry-wood syndromeEnrichmentCLASP11.32
367Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.32
368Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA1.32
369Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.32
370Neutropenia, severe congenital, x-linkedEnrichmentWAS1.32
371Spermatogenic failure, y-linked, 2EnrichmentCFTR1.32
372Otopalatodigital syndrome, type iiEnrichmentFLNA1.32
373Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.32
374Melnick-needles syndromeEnrichmentFLNA1.32
375Cataract 35EnrichmentMYH91.32
376Frontometaphyseal dysplasia 1EnrichmentFLNA1.32
377Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.32
378Nephronophthisis-like nephropathy 1EnrichmentRANGAP11.32
379Hyperparathyroidism 1EnrichmentMEN11.32
380MacroglossiaEnrichmentTAOK11.32
381Schwannomatosis 1EnrichmentNF21.32
382Spastic paraplegia, optic atrophy, and neuropathyEnrichmentKLC21.32
383Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.32
384Deafness, autosomal dominant 20EnrichmentACTG11.32
385Granulomatous disease, chronic, autosomal recessive, 3EnrichmentNCF41.32
386Melanoma, cutaneous malignant 6EnrichmentKLC11.32
387Lissencephaly 1EnrichmentPAFAH1B11.32
388Baraitser-winter syndrome 2EnrichmentACTG11.32
389Robinow syndrome, autosomal dominant 3EnrichmentDVL31.32
390Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.32
391Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.32
392Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.32
393Long qt syndrome 14EnrichmentCALM11.32
394Houge-janssens syndrome 1EnrichmentPPP2R5D1.32
395Roifman syndromeEnrichmentCLASP11.32
396Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.32
397Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.32
398Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.32
399Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC41.32
400Agammaglobulinemia, x-linkedEnrichmentBTK1.32
401Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.32
402Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.32
40346,xy sex reversal 1EnrichmentAR1.32
404Androgen insensitivity syndromeEnrichmentAR1.32
405Nephrotic syndrome, type 17EnrichmentNUP851.32
406Immunodeficiency 66EnrichmentMRTFA1.32
407Keratoconus 9EnrichmentTUBA3D1.32
408Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentTAOK11.32
409Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.32
410Hypospadias 1, x-linkedEnrichmentAR1.32
411Childhood hepatocellular carcinomaEnrichmentCTNNB11.32
412Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.32
413Lissencephaly 3EnrichmentTUBA1A1.32
414Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.32
415Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A1.32
416Vulto-van silfhout-de vries syndromeEnrichmentDLG41.32
417Body mass index quantitative trait locus 19EnrichmentCENPO1.32
418Medullary thyroid carcinomaEnrichmentMEN11.32
419Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.32
420Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.32
421Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.32
422Pseudosarcomatous fibromatosisEnrichmentMYH91.32
423Immune system diseaseEnrichmentCDC421.32
424InsulinomaEnrichmentMEN11.32
425Degenerative disc diseaseEnrichmentCENPP1.32
426Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.32
427Rnu4atac-opathyEnrichmentCLASP11.32
428Chronic atrial and intestinal dysrhythmiaEnrichmentSGO11.32
429Diamond-blackfan anemia 17EnrichmentRPS271.32
430Torsion dystonia 4EnrichmentTUBB4A1.32
431Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.32
432Houge-janssens syndrome 3EnrichmentPPP2CA1.32
433Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.32
434Demyelinating polyneuropathyEnrichmentKIF5A1.32
435Crohn's diseaseEnrichmentFMNL21.32
436Posterior hypospadiasEnrichmentAR1.32
437Immunodeficiency 133EnrichmentARPC51.32
438TeratomaEnrichmentCTNNB11.32
439Primary mediastinal large b-cell lymphomaEnrichmentXPO11.32
440Skeletal muscle diseaseEnrichmentKIF5B1.32
441Null pituitary adenomaEnrichmentMEN11.32
442Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.32
443Silent pituitary adenomaEnrichmentMEN11.32
444Continuous spikes and waves during sleepEnrichmentTUBA1A1.32
445Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)EnrichmentMRTFA1.32
446GigantismEnrichmentMEN11.32
447MyopiaEnrichmentMYH11, NDE11.31
448Multiple symmetric lipomatosisEnrichmentMFN21.28
449Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2aEnrichmentMFN21.28
450Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2bEnrichmentMFN21.28
451Alfadhel syndromeEnrichmentRAP1GDS11.28
452Developmental and epileptic encephalopathy 68EnrichmentTRAK11.28
453Charcot-marie-tooth disease type 5EnrichmentMFN21.28
454Charcot-marie-tooth disease type 2a2bEnrichmentMFN21.28
455Retinal hemangioblastomaEnrichmentVHL1.28
456HypertensionEnrichmentMEN1, MYH91.26
457Colorectal cancerEnrichmentBUB1, BUB1B, CTNNA1, CTNNB1, SRC1.23
458Dandy-walker syndromeEnrichmentPPP1CB, TUBA1A1.21
459Anemia, congenital dyserythropoietic, type iiiaEnrichmentRACGAP11.19
460Fibromatosis, gingival, 1EnrichmentSOS11.19
461Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.19
462Cataract 40EnrichmentNHS1.19
463Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD1.19
464Pulmonic stenosisEnrichmentSOS11.19
465Intellectual developmental disorder, x-linked, syndromic, shashi typeEnrichmentRBMX1.19
466Dent disease 2EnrichmentOCRL1.19
467Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.19
468Cardiomyopathy, dilated, 1rEnrichmentACTC11.19
469Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentCUL31.19
470Deafness, autosomal recessive 28EnrichmentTRIO1.19
471Keratosis, seborrheicEnrichmentPIK3CA1.19
472Cardiomyopathy, familial hypertrophic, 11EnrichmentACTC11.19
473Primary lateral sclerosis, juvenileEnrichmentALS21.19
474Anemia, hypochromic microcytic, with iron overload 2EnrichmentSTEAP31.19
475Duane retraction syndrome 2EnrichmentCHN11.19
476Hallermann-streiff syndromeEnrichmentGJA11.19
477Cholestasis, progressive familial intrahepatic, 4EnrichmentTJP21.19
478Noonan syndrome 8EnrichmentPIK3CA1.19
479Syndactyly, type iiiEnrichmentGJA11.19
480Syndactyly, type vEnrichmentGJA11.19
481Neuronopathy, distal hereditary motor, autosomal recessive 4EnrichmentPLEKHG51.19
482Adams-oliver syndrome 2EnrichmentDOCK61.19
483Spastic paraplegia, intellectual disability, nystagmus, and obesityEnrichmentKIDINS2201.19
484Charcot-marie-tooth disease, recessive intermediate cEnrichmentPLEKHG51.19
485Atrial septal defect 5EnrichmentACTC11.19
486Sjogren-larsson syndromeEnrichmentALDH3A21.19
487Spondyloepiphyseal dysplasia, nishimura typeEnrichmentWWP21.19
488Noonan syndrome 12EnrichmentRRAS21.19
489Spastic paraplegia 70, autosomal recessiveEnrichmentARHGAP91.19
490Congenital heart defects, multiple types, 9EnrichmentPLXND11.19
491Craniometaphyseal dysplasiaEnrichmentGJA11.19
492Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.19
493Syndromic x-linked intellectual disabilityEnrichmentNHS1.19
494Cataract 30EnrichmentVIM1.19
495Syndromic x-linked intellectual disability shashi typeEnrichmentRBMX1.19
496Congenital disorder of glycosylation, type iioEnrichmentVMA221.19
497Hypobetalipoproteinemia, familial, 2EnrichmentDOCK71.19
498OsteopoikilosisEnrichmentLEMD31.19
499Neuromuscular disorder, congenital, with dysmorphic faciesEnrichmentFILIP11.19
500Developmental and epileptic encephalopathy 23EnrichmentDOCK71.19
501Autosomal dominant primary microcephalyEnrichmentLMNB11.19
502Paget's disease of boneEnrichmentDOCK61.19
503Disorders of intracellular cobalamin metabolismEnrichmentMTR1.19
504Aarskog syndromeEnrichmentFGD11.19
505Cataract 48EnrichmentDNMBP1.19
506Isolated anencephalyEnrichmentVANGL21.19
507Combined deficiency of factor v and factor viiiEnrichmentLMAN11.19
50812q14 microdeletion syndromeEnrichmentLEMD31.19
509CaddsEnrichmentBCAP311.19
510Isolated exencephalyEnrichmentVANGL21.19
511Malignant peripheral nerve sheath tumor with perineurial differentiationEnrichmentSH3PXD2A1.19
512X-linked emery-dreifuss muscular dystrophyEnrichmentEMD1.19
513Malignant triton tumorEnrichmentSH3PXD2A1.19
514Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP1.19
515Desmoid disease, hereditaryEnrichmentCTNNB11.15
516Prune belly syndromeEnrichmentFLNA1.15
517Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP11.15
518Arterial tortuosity syndromeEnrichmentFLNA1.15
519Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasiaEnrichmentCYBA1.15
520Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT1.15
521Periventricular nodular heterotopia 1EnrichmentFLNA1.15
522Band heterotopiaEnrichmentPAFAH1B11.15
523Heart defects, congenital, and other congenital anomaliesEnrichmentDLG41.15
524Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.15
525Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.15
526Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.15
527Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.15
528Congenital short bowel syndromeEnrichmentFLNA1.15
529Pituitary adenoma 1, multiple typesEnrichmentMEN11.15
530Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.15
531Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.15
532Anus, imperforateEnrichmentCTNNB11.15
533Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.15
534Exudative vitreoretinopathy 7EnrichmentCTNNB11.15
535Developmental and epileptic encephalopathy 65EnrichmentCYFIP21.15
536Agammaglobulinemia 1EnrichmentBTK1.15
537Intellectual developmental disorder, autosomal dominant 62EnrichmentDLG41.15
538Desmoid tumorEnrichmentCTNNB11.15
539Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizuresEnrichmentDLG41.15
540Frontometaphyseal dysplasiaEnrichmentFLNA1.15
541T-cell acute lymphoblastic leukemiaEnrichmentABL11.15
542Microcephaly 17, primary, autosomal recessiveEnrichmentCIT1.15
543Parathyroid adenomaEnrichmentMEN11.15
544Growth hormone secreting pituitary adenomaEnrichmentMEN11.15
545Dlg4-related synaptopathyEnrichmentDLG41.15
546Aip familial isolated pituitary adenomasEnrichmentMEN11.15
547Butterfly-shaped pigment dystrophyEnrichmentCTNNA11.15
548Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.15
549Familial isolated hyperparathyroidismEnrichmentMEN11.15
550Autoimmune polyendocrine syndrome type 1EnrichmentCYBA1.15
551Spindle cell sarcomaEnrichmentNF21.15
552Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA1.12
553Williams-beuren syndromeEnrichmentLIMK1, NCF11.08
554Lynch syndromeEnrichmentCFTR, PIK3CA1.07
555Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFLNA, MYH11, MYLK1.05
556Diffuse gastric and lobular breast cancer syndromeEnrichmentCTNNA11.03
557Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.03
558CystinuriaEnrichmentCENPF1.03
559Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA11.03
560PilomatrixomaEnrichmentCTNNB11.03
561Ciliary dyskinesia, primary, 29EnrichmentCENPF1.03
562Aminoacylase 1 deficiencyEnrichmentACTB1.03
563Alazami syndromeEnrichmentCTNNB11.03
564Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.03
565Ectodermal dysplasiaEnrichmentRANBP21.03
566CraniopharyngiomaEnrichmentCTNNB11.03
567ProlactinomaEnrichmentMEN11.03
568Idiopathic bronchiectasisEnrichmentCFTR1.03
569Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentMYH111.03
570Knobloch syndromeEnrichmentPAK21.03
571Full schwannomatosisEnrichmentNF21.03
572Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.03
573Severe combined immunodeficiencyEnrichmentDOCK8, LCK, ZAP701.03
574Pseudohypoaldosteronism, type iiaEnrichmentCUL31.02
575Maple syrup urine disease, type iaEnrichmentDBT1.02
576Homocystinuria-megaloblastic anemia, cblg typeEnrichmentMTR1.02
577Hyper-ige syndrome 2, autosomal recessive, with recurrent infectionsEnrichmentDOCK81.02
578Pompe disease, infantile-onsetEnrichmentPIK3CA1.02
579Aarskog-scott syndromeEnrichmentFGD11.02
580Factor v and factor viii, combined deficiency of, 1EnrichmentLMAN11.02
581Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentFGD11.02
582Spinocerebellar ataxia 4EnrichmentPLEKHG41.02
583Epidermolysis bullosa, lethal acantholyticEnrichmentJUP1.02
584Estrogen resistanceEnrichmentTMEM591.02
585Chromosome 8p11 myeloproliferative syndromeEnrichmentBCR1.02
586Polycystic kidney disease 2 with or without polycystic liver diseaseEnrichmentFAM13A1.02
587Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.02
588Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.02
589Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiencyEnrichmentDST1.02
590Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.02
591Myopathy, autosomal recessive, with rigid spine and distal joint contracturesEnrichmentTOR1AIP11.02
592Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.02
593Hyper-ige syndrome 3, autosomal recessive, with recurrent infectionsEnrichmentDOCK81.02
594Dent diseaseEnrichmentOCRL1.02
595Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP1.02
596Polycystic kidney disease 2EnrichmentFAM13A1.02
597Intellectual developmental disorder, autosomal dominant 44, with microcephalyEnrichmentTRIO1.02
598Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentPLEKHG21.02
599Immunodeficiency 14EnrichmentPIK3R11.02
600Squamous cell carcinomaEnrichmentFAM13A1.02
601Duane retraction syndromeEnrichmentCHN11.02
602Chung-jansen syndromeEnrichmentPHIP1.02
603Syndromic x-linked intellectual disability claes-jensen typeEnrichmentFGD11.02
604Cap myopathyEnrichmentTPM31.02
605HomocystinuriaEnrichmentMTR1.02
606KeratoacanthomaEnrichmentPIK3CA1.02
607TyrosinemiaEnrichmentALS21.02
608Intermittent maple syrup urine diseaseEnrichmentDBT1.02
609Classic maple syrup urine diseaseEnrichmentDBT1.02
610Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathyEnrichmentMFN20.99
611Glycosylphosphatidylinositol biosynthesis defect 11EnrichmentMYO190.99
612Axonal neuropathyEnrichmentMFN20.99
613Acute leukemia of ambiguous lineageEnrichmentVHL0.99
614Multiple system atrophy, cerebellar typeEnrichmentMFN20.99
615Syndromic intellectual disabilityEnrichmentPHIP, TRIO0.98
616Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF6, ATP6AP1, USP9X0.95
617Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, BCR, PICALM0.95
618Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP20.94
619Exudative vitreoretinopathy 1EnrichmentCTNNB10.94
620Kearns-sayre syndromeEnrichmentKIF5B0.94
621Deafness, autosomal recessive 63EnrichmentMYH90.94
622Knobloch syndrome 1EnrichmentPAK20.94
623Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B10.94
624Lissencephaly 2EnrichmentNDE10.94
625Congenital ptosisEnrichmentMYH100.94
626Spinal muscular atrophyEnrichmentDYNC1H10.94
627Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.94
628Female infertility due to oocyte meiotic arrestEnrichmentTUBB80.94
629Coloboma of choroid and retinaEnrichmentACTG10.94
630Endometrial stromal sarcomaEnrichmentYWHAE0.94
631Neuromuscular diseaseEnrichmentEMD, SPTAN10.93
632Early-onset nuclear cataractEnrichmentEPHA2, NHS0.93
633Body mass index quantitative trait locus 11EnrichmentCENPO, MYH9, NUDC0.93
634Trichorhinophalangeal syndrome, type iiEnrichmentSTMN20.90
635Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN10.90
636Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD0.90
637Sacral defect with anterior meningoceleEnrichmentVANGL10.90
638Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.90
639Neural tube defects, folate-sensitiveEnrichmentMTR0.90
640Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R20.90
641Neuropathy, hereditary sensory and autonomic, type viEnrichmentDST0.90
642Congenital generalized lipodystrophyEnrichmentCAVIN10.90
643Imerslund-grasbeck syndrome 2EnrichmentCDC42BPB0.90
644Fetal akinesia deformation sequence 3EnrichmentDOCK70.90
645Emery-dreifuss muscular dystrophyEnrichmentEMD0.90
646Cerebrovascular diseaseEnrichmentPIK3CA0.90
647Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC0.90
648Blood platelet diseaseEnrichmentANKRD260.90
649Spastic quadriplegic cerebral palsyEnrichmentADD30.90
650OligohydramniosEnrichmentOPHN10.90
651Familial cerebral cavernous malformationsEnrichmentPIK3CA0.90
652Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN10.90
653Intermediate maple syrup urine diseaseEnrichmentDBT0.90
654Intermediate nemaline myopathyEnrichmentTPM30.90
655Middle aortic syndromeEnrichmentJAG10.90
656Gingival fibromatosisEnrichmentSOS10.90
657Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS20.90
658MeningiomaEnrichmentNF2, PIK3CA0.90
659Lip and oral cavity carcinomaEnrichmentABL1, PIK3CA0.90
660Arteriovenous malformations of the brainEnrichmentLEMD3, PREX20.89
661Weyers acrofacial dysostosisEnrichmentCTNNB10.87
662Moyamoya disease 1EnrichmentDIAPH10.87
663Hemangioma, capillary infantileEnrichmentMYH90.87
664Pendred syndromeEnrichmentDIAPH10.87
665Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.87
666Patent ductus arteriosusEnrichmentFLNA0.87
667Adrenocortical carcinomaEnrichmentCTNNB10.87
668Early myoclonic encephalopathyEnrichmentTUBA1A0.87
669Kidney clear cell sarcomaEnrichmentYWHAE0.87
670Chromosome 1p36 deletion syndromeEnrichmentPRKCZ, SPEN0.84
671Nk-cell enteropathyEnrichmentAURKB, CUL30.84
672Centronuclear myopathyEnrichmentTOR1AIP1, TPM30.82
673Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL0.82
674Pelizaeus-merzbacher diseaseEnrichmentRAB9B0.82
675Spastic paraplegia 2, x-linkedEnrichmentRAB9B0.82
676Neuropathy, hereditary motor and sensory, type via, with optic atrophyEnrichmentMFN20.82
677Primary polycythemiaEnrichmentVHL0.82
678Pelizeaus-merzbacher spectrum disorderEnrichmentRAB9B0.82
679Undetermined early-onset epileptic encephalopathyEnrichmentCYFIP2, LIMK1, YWHAG0.82
680Prostate cancerEnrichmentAR, MAD1L10.81
681Cataract 6, multiple typesEnrichmentEPHA20.81
682Capillary malformations, congenitalEnrichmentPIK3CA0.81
683Dementia, lewy bodyEnrichmentVCP0.81
684Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.81
685Pervasive developmental disorderEnrichmentSPTBN10.81
686Histiocytoid hemangiomaEnrichmentVIM0.81
687Cleft upper lipEnrichmentGJA10.81
688Autosomal thrombocytopenia with normal plateletsEnrichmentANKRD260.81
689HemimegalencephalyEnrichmentPIK3CA0.81
690AniridiaEnrichmentEPHA20.81
691Diffuse cutaneous systemic sclerosisEnrichmentCAV10.81
692Persistent truncus arteriosusEnrichmentPLXND10.81
693Rare pervasive developmental disorderEnrichmentSPTBN10.81
694Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.81
695MyelofibrosisEnrichmentSRC0.81
696Gastrointestinal stromal tumorEnrichmentMEN10.81
697Charcot-marie-tooth diseaseEnrichmentARHGEF10, DST, DYNC1H1, MFN20.77
698Long qt syndromeEnrichmentCALM1, CALM20.77
699Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.75
700Perrault syndromeEnrichmentSGO20.75
701Exudative vitreoretinopathyEnrichmentCTNNB10.75
702CryptorchidismEnrichmentTUBA1A0.75
703Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.75
704Male infertility due to globozoospermiaEnrichmentGOPC0.75
705Difference of sex developmentEnrichmentAR0.75
706Peripheral nervous system diseaseEnrichmentDYNC1H1, KIF5A0.75
707NeuropathyEnrichmentDYNC1H1, KIF5A0.75
708Hereditary spastic paraplegiaEnrichmentKIF5A, PLEKHG5, RAB9B, SPTAN10.74
709Klippel-trenaunay-weber syndromeEnrichmentPIK3CA0.74
710Branchiootorenal syndrome 1EnrichmentTJP20.74
711Kabuki syndrome 1EnrichmentKIDINS2200.74
712Cowden syndrome 1EnrichmentPIK3CA0.74
713Wolf-hirschhorn syndromeEnrichmentLETM10.74
714Muscular dystrophy, limb-girdle, autosomal recessive 1EnrichmentTOR1AIP10.74
715Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO60.74
716Testicular germ cell tumorEnrichmentSTK100.74
717Anterior segment dysgenesis 5EnrichmentARHGAP350.74
718Megaloblastic anemiaEnrichmentCDC42BPB0.74
719Limited sclerodermaEnrichmentCAV10.74
720Breast adenocarcinomaEnrichmentPIK3CA0.74
721Lung squamous cell carcinomaEnrichmentPIK3CA0.74
722Familial hypercholanemiaEnrichmentTJP20.74
723Erythrocytosis, familial, 2EnrichmentVHL0.71
724Au-kline syndromeEnrichmentVHL0.71
725Male infertilityEnrichmentAR, CFTR0.71
726Cardiomyopathy, familial hypertrophic, 4EnrichmentNCF10.71
727Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR0.71
728Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR0.71
729Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.71
730Inflammatory bowel disease 1EnrichmentFMNL20.71
731Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.71
732Jeune thoracic dystrophyEnrichmentLBR, SPTAN10.70
733Oculopharyngodistal myopathy 1EnrichmentABCD30.68
734Nevus, epidermalEnrichmentPIK3CA0.68
735Thyroid cancer, nonmedullary, 2EnrichmentSRGAP10.68
736Imerslund-grasbeck syndrome 1EnrichmentCDC42BPB0.68
737Rett syndromeEnrichmentRHOBTB20.68
738Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA0.68
739Renal cell carcinoma with mit translocationsEnrichmentCLTC0.68
740Branchiootorenal syndromeEnrichmentTJP20.68
741Pilomyxoid astrocytomaEnrichmentSRGAP30.68
742Focal epilepsyEnrichmentSPTAN10.68
743Follicular thyroid carcinomaEnrichmentSRGAP10.68
744Childhood-onset nemaline myopathyEnrichmentTPM30.68
745Overgrowth syndromeEnrichmentPIK3R10.68
746Non-syndromic genetic deafnessEnrichmentACTG1, MYH140.67
747Cat eye syndromeEnrichmentACTG10.67
748PolymicrogyriaEnrichmentDYNC1H10.67
749Ovarian cancerEnrichmentAR, BUB1B, CDKN1B, CTNNB10.65
750Cleft palate, isolatedEnrichmentFLNA, MYO190.65
751Asphyxiating thoracic dystrophyEnrichmentLBR, SPTAN10.63
752Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA10.63
753Spondylocostal dysostosis 1, autosomal recessiveEnrichmentPLEKHG20.63
754Alternating hemiplegia of childhoodEnrichmentRHOBTB20.63
755Choreatic diseaseEnrichmentRHOBTB20.63
756Hypoplastic left heart syndromeEnrichmentGJA10.63
757Early-onset posterior polar cataractEnrichmentEPHA20.63
758Meningioma, familialEnrichmentNF20.63
75946,xy complete gonadal dysgenesisEnrichmentAR0.63
760Diabetes mellitusEnrichmentMEN10.63
761Fanconi anemia, complementation group d2EnrichmentVHL0.62
762Von hippel-lindau syndromeEnrichmentVHL0.62
763Genetic motor neuron diseaseEnrichmentMFN20.62
764Heart, malformation ofEnrichmentJAG1, MAPK10.62
765Charcot-marie-tooth disease type 4EnrichmentDYNC1H1, FGD40.62
766Patent foramen ovaleEnrichmentACTC1, FLNA0.62
767Congenital nervous system abnormalityEnrichmentCTNNB1, DYNC1H1, TUBA1A, TUBB4A0.60
768Nervous system diseaseEnrichmentCTNNB1, DYNC1H1, TUBA1A, TUBB4A0.60
769Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.60
770Congenital hypothyroidismEnrichmentTUBB10.60
77146 xx gonadal dysgenesisEnrichmentNUP1070.60
772Coronary heart disease 5EnrichmentKALRN0.59
773Arteriovenous malformationEnrichmentPIK3CA0.59
774Leukoencephalopathy with vanishing white matterEnrichmentANKLE20.59
775Progressive non-fluent aphasiaEnrichmentVCP0.59
776Primary biliary cholangitisEnrichmentTJP20.59
777Cowden syndromeEnrichmentPIK3CA0.59
778Behavioral variant of frontotemporal dementiaEnrichmentVCP0.59
779Nonsyndromic hearing lossEnrichmentACTG1, MYH140.57
780Microphthalmia/coloboma 12EnrichmentMYH100.57
781Sporadic pheochromocytoma/secreting paragangliomaEnrichmentVHL0.56
782Cataract 30, multiple typesEnrichmentVIM0.55
783Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP0.55
784Peters-plus syndromeEnrichmentARHGAP350.55
785Amelogenesis imperfecta, type ieEnrichmentARHGAP60.55
786Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA0.55
787Nemaline myopathyEnrichmentTPM30.55
788Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.55
789OsteoporosisEnrichmentSRC0.54
790MedulloblastomaEnrichmentCTNNB10.54
791Periventricular nodular heterotopiaEnrichmentFLNA0.54
792Heart diseaseEnrichmentABL10.54
793Hereditary chronic pancreatitisEnrichmentCFTR0.54
794Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentLBR, SPTAN10.53
795Rare genetic deafnessEnrichmentACTG1, DIAPH1, MYH90.53
796Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentALS2, VAPB, VCP0.53
797HepatoblastomaEnrichmentCTNNB1, JAG10.53
798Coloboma of maculaEnrichmentMYH100.51
799Corpus callosum, agenesis ofEnrichmentTUBA1A0.51
800Isolated corpus callosum agenesisEnrichmentTUBA1A0.51
801Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A0.51
802Lung non-small cell carcinomaEnrichmentPIK3CA0.51
803Heritable pulmonary arterial hypertensionEnrichmentCAV10.51
804Presynaptic congenital myasthenic syndromesEnrichmentMYO9A0.51
805CakutEnrichmentACTG1, SRGAP10.51
806Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA0.50
807Renal cell carcinoma, papillary, 1EnrichmentVHL0.50
808Multiple enchondromatosis, maffucci typeEnrichmentVHL0.50
809Isolated congenital microcephalyEnrichmentTUBA3E0.49
810Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentTOR1AIP10.48
811Juvenile myelomonocytic leukemiaEnrichmentARHGAP260.48
812Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentJUP0.48
813Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentJUP0.48
814Developmental and epileptic encephalopathyEnrichmentARHGEF15, SPTAN10.48
815Pancreatitis, hereditaryEnrichmentCFTR0.47
816Sudden infant death syndromeEnrichmentCALM20.47
817Polycystic liver diseaseEnrichmentCTNNB10.47
818Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.47
819Joubert syndrome 1EnrichmentB9D2, KIF140.47
820MyopathyEnrichmentDYNC1H1, EMD, TPM30.47
821Aortic valve disease 1EnrichmentSOS10.45
822Hypercholesterolemia, familial, 1EnrichmentDOCK60.45
823Alzheimer's diseaseEnrichmentVCP0.45
824Amelogenesis imperfectaEnrichmentARHGAP60.45
825Diffuse large b-cell lymphomaEnrichmentBTK0.43
826Multiple sclerosisEnrichmentDST0.43
827CataractEnrichmentEPHA20.43
828Cleft lip/palateEnrichmentARHGAP290.43
829Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentJUP0.43
830Pituitary stalk interruption syndromeEnrichmentWDR110.43
83146,xy partial gonadal dysgenesisEnrichmentSOS10.43
832EpilepsyEnrichmentDIAPH1, MTR0.42
833Hereditary breast ovarian cancer syndromeEnrichmentCTNNA1, MEN10.42
834CraniosynostosisEnrichmentCTNNA10.41
835Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, CFTR0.41
836Inherited cancer-predisposing syndromeEnrichmentCDKN1B, CTNNA1, MEN1, NF20.41
837Congenital myopathy 4a, autosomal dominantEnrichmentTPM30.40
838Familial hypercholesterolemiaEnrichmentDOCK60.40
839Noonan syndrome and noonan-related syndromeEnrichmentSOS10.40
840West syndromeEnrichmentRALGAPA1, SPTAN1, TUBA1A0.40
841Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentKCTD30.38
842Wolff-parkinson-white syndromeEnrichmentJUP0.38
843Arrhythmogenic right ventricular cardiomyopathyEnrichmentJUP0.38
844Attention deficit-hyperactivity disorderEnrichmentKIF5B0.38
845Tooth agenesisEnrichmentRANBP20.38
846Alzheimer disease, familial, 1EnrichmentVCP0.36
847Interstitial lung disease 2EnrichmentFAM13A0.36
848Bladder cancerEnrichmentCTNNB1, PIK3CA0.35
849Severe covid-19EnrichmentCENPF, DOCK80.35
850Normosmic congenital hypogonadotropic hypogonadismEnrichmentWDR110.35
851Isolated joubert syndromeEnrichmentARL13B, B9D20.33
852Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN10.33
853Dilated cardiomyopathyEnrichmentACTC1, EMD, JUP0.31
854Lung cancerEnrichmentPIK3CA, PPP2R1B0.30
855Endometrial cancerEnrichmentPIK3CA0.30
856Hirschsprung disease 1EnrichmentNUP980.30
857Meckel syndrome, type 1EnrichmentB9D20.30
858Myocardial infarctionEnrichmentCCT70.28
859Familial isolated dilated cardiomyopathyEnrichmentACTC1, TMPO0.28
860PheochromocytomaEnrichmentVHL0.27
861Kallmann syndromeEnrichmentWDR110.27
862Cystic fibrosisEnrichmentCFTR0.27
863Ear malformationEnrichmentMYO60.26
864NephronophthisisEnrichmentINCENP0.26
865Renal cell carcinoma, nonpapillaryEnrichmentVHL0.25
866Tetralogy of fallotEnrichmentJAG10.24
867Diamond-blackfan anemiaEnrichmentRPS270.23
868Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.23
869Beckwith-wiedemann syndromeEnrichmentMFN20.20
870Hypertrophic cardiomyopathyEnrichmentKIF5B0.19
871Optic atrophy plus syndromeEnrichmentTUBB60.18
872Familial hypertrophic cardiomyopathyEnrichmentACTC10.18
873Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentVHL0.17
874Left ventricular noncompactionEnrichmentACTC10.16
875DystoniaEnrichmentRHOBTB20.16
876Autism spectrum disorderEnrichmentCDC42BPB, CUL3, SPEN0.16
877HypertelorismEnrichmentMYH100.14
878Mitochondrial complex i deficiency, nuclear type 1EnrichmentNDUFS30.14
879Spastic ataxiaEnrichmentTUBB30.14
880Leukemia, acute myeloidEnrichmentPICALM0.13
881Myeloma, multipleEnrichmentH3C10.13
882Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.13
883Distal arthrogryposisEnrichmentACTC10.12
884Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP10.12
885Centralopathic epilepsyEnrichmentSPTAN10.12
886Gastric cancerEnrichmentPIK3CA0.12
887Primary ovarian insufficiencyEnrichmentSGO20.12
888Hereditary breast carcinomaEnrichmentPIK3CA0.11
889Deafness, autosomal recessiveEnrichmentMYH90.11
890Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.10
891Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA1, MYO60.10
892Breast cancerEnrichmentKLC10.08
893Fanconi anemia, complementation group aEnrichmentVHL0.07
894SchizophreniaEnrichmentPHIP0.07
895Leber plus diseaseEnrichmentTUBB4B0.04
896AutismEnrichmentDOCK40.04
897Mitochondrial diseaseEnrichmentC1QBP0.02
898Retinitis pigmentosaEnrichmentARHGEF180.00
899Hereditary retinal dystrophyEnrichmentCTNNA10.00
900Fundus dystrophyEnrichmentCTNNA10.00

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