Vesicle-mediated transport

No Pathway Network information available for Vesicle-mediated transport

Pathways in the Vesicle-mediated transport SuperPath

#NameSourceGenes
1Vesicle-mediated transportReactome
(see all 674) (see less)
2Membrane TraffickingReactome
(see all 635) (see less)

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

Disorders associated with Vesicle-mediated transport SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Warburg micro syndrome 1EnrichmentRAB18, RAB3GAP1, RAB3GAP2, TBC1D205.32
2TubulinopathyEnrichmentRALGAPB, TUBA1A, TUBB2A, TUBB2B5.32
3Severe intellectual disability and progressive spastic paraplegiaEnrichmentAP4B1, AP4E1, AP4M1, AP4S15.32
4LissencephalyEnrichmentACTG1, DYNC1H1, PAFAH1B1, TUBA1A, TUBA3E, TUBB2B, TUBB34.51
5Hermansky-pudlak syndromeEnrichmentAP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS44.45
6Hermansky-pudlak syndrome 1EnrichmentAP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS44.26
7Congenital fibrosis of the extraocular musclesEnrichmentKIF21A, TUBA1A, TUBB2B, TUBB34.18
8Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB33.99
9Protein-deficiency anemiaEnrichmentHBA1, HBA2, HBB, SPTA1, SPTB3.56
10Deafness, autosomal recessive 1aEnrichmentGJB2, GJB3, GJB63.40
11Gjb2-related autosomal recessive nonsyndromic hearing lossEnrichmentGJB2, GJB3, GJB63.40
12Hermansky-pudlak syndrome due to bloc-1 deficiencyEnrichmentBLOC1S3, BLOC1S6, DTNBP13.40
13Autosomal dominant non-syndromic intellectual disabilityEnrichmentARF3, CLTC, CUX1, DYNC1H1, GRIA1, ITSN1, KIF1A, RAB11A, YWHAZ3.34
14Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentALB, COL1A1, COL1A23.33
15Hereditary spherocytosisEnrichmentANK1, SPTA1, SPTB2.74
16Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A2, SEC24D2.66
17Methemoglobinemia, beta typeEnrichmentHBA1, HBA2, HBB2.66
18KeratoconusEnrichmentCOL1A1, COL4A1, TSC12.66
19Autosomal dominant secondary polycythemiaEnrichmentHBA1, HBA2, HBB2.66
20Anemia, congenital dyserythropoietic, type iiiaEnrichmentKIF23, RACGAP12.66
21Pyropoikilocytosis, hereditaryEnrichmentSPTA1, SPTB2.66
22LymphangioleiomyomatosisEnrichmentTSC1, TSC22.66
23Spinal muscular atrophy with lower extremity predominantEnrichmentBICD2, DYNC1H12.66
24Deafness, autosomal recessive 1bEnrichmentGJB2, GJB62.66
25Infantile liver failure syndromeEnrichmentNBAS, RINT12.66
26Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG12.66
27Combined deficiency of factor v and factor viiiEnrichmentLMAN1, MCFD22.66
28Keratitis ichthyosis and deafness syndromeEnrichmentGJB2, GJB62.66
29Hermansky-pudlak syndrome due to bloc-3 deficiencyEnrichmentHPS1, HPS42.66
30Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A22.61
31Hyperlipoproteinemia, type iiiEnrichmentAPOE, LDLR2.61
32Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A22.61
33Charcot-marie-tooth diseaseEnrichmentDCTN1, DNM2, DYNC1H1, GJB1, SBF1, SBF2, TFG2.57
34Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, GJB2, GJB3, GJB6, MYH9, MYO1C, MYO6, TBC1D242.57
35Hereditary spastic paraplegiaEnrichmentAP4B1, AP4M1, KIF1A, KIF1C, KIF5A, RAB9B, SPTAN12.51
36Hemolytic anemiaEnrichmentHBB, SPTA1, SPTB2.43
37Congenital nervous system abnormalityEnrichmentANK3, AP4B1, AP4E1, AP4M1, DYNC1H1, GJC2, PLA2G6, TBC1D24, TRAPPC9, TSC2, TUBA1A, TUBB4A2.41
38Nervous system diseaseEnrichmentANK3, AP4B1, AP4E1, AP4M1, DYNC1H1, GJC2, PLA2G6, TBC1D24, TRAPPC9, TSC2, TUBA1A, TUBB4A2.41
39Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA1, GJB3, GJB42.32
40Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM32.32
41Homozygous familial hypercholesterolemiaEnrichmentAPOB, LDLR, LDLRAP12.32
42Familial hypercholesterolemiaEnrichmentAPOB, APOE, LDLR, LDLRAP12.27
43Heinz body anemiasEnrichmentHBA1, HBA2, HBB2.25
44Heinz body anemiaEnrichmentHBA1, HBA2, HBB2.25
45Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH9, TUBB12.20
46Hypercholesterolemia, familial, 2EnrichmentAPOB, LDLR2.20
47Tuberous sclerosis 1EnrichmentTSC1, TSC22.20
48Uvula, bifidEnrichmentARF3, UBB2.20
49Pelizaeus-merzbacher diseaseEnrichmentGJC2, RAB9B2.20
50Factor v and factor viii, combined deficiency of, 1EnrichmentLMAN1, MCFD22.20
51Mednik syndromeEnrichmentAP1B1, AP1S12.20
52Hypercholesterolemia, familial, 4EnrichmentLDLR, LDLRAP12.20
53Leukodystrophy, hypomyelinating, 2EnrichmentGJC2, SNAP292.20
54Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B1, YWHAE2.20
55Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B1, YWHAE2.20
56Deafness, x-linked 2EnrichmentGJB2, GJB62.20
57HamartomaEnrichmentTSC1, TSC22.20
58X-linked mixed hearing loss with perilymphatic gusherEnrichmentGJB2, GJB62.20
59Atypical juvenile parkinsonismEnrichmentDNAJC6, SYNJ12.20
60Pelizeaus-merzbacher spectrum disorderEnrichmentGJC2, RAB9B2.20
61Auditory neuropathyEnrichmentKIF5A, RAB33A, RAB9B, TBC1D24, TUBB4A2.19
62Adult hepatocellular carcinomaEnrichmentEGF, TSC1, TSC22.16
63Alpha thalassemia-intellectual disability syndrome type 1EnrichmentHBA1, HBA22.15
64Spastic paraplegia 50, autosomal recessiveEnrichmentAP4M1, APOA12.15
65High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A22.15
66MicrocephalyEnrichmentACTB, ACTG1, AP4M1, ARF3, COL4A1, COL7A1, COPB1, DYNC1H1, KIF11, KIF23, PLA2G6, TUBB4A, YWHAG2.09
67Alpha-thalassemiaEnrichmentHBA1, HBA2, HBB2.09
68Primary bone dysplasiaEnrichmentCOL1A1, COL1A2, COPB11.95
69Spastic ataxiaEnrichmentGJC2, KIF1A, KIF1C, PLA2G6, PUM1, SPTAN1, TUBB31.95
70Focal cortical dysplasia, type iiEnrichmentTSC1, TSC21.91
71Tuberous sclerosisEnrichmentTSC1, TSC21.91
72Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, YWHAZ1.91
73Hereditary elliptocytosisEnrichmentSPTA1, SPTB1.91
74Isolated focal cortical dysplasia type iiEnrichmentTSC1, TSC21.91
75Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A21.86
76Budd-chiari syndromeEnrichmentCALR, F51.86
77Erythrocytosis, familial, 7EnrichmentHBA1, HBA21.86
78Hemoglobin h diseaseEnrichmentHBA1, HBA21.86
79Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A21.86
80OsteochondrodysplasiaEnrichmentCOL1A1, COL1A2, COPB11.83
81West syndromeEnrichmentDNM1, SPTAN1, SYNJ1, TBC1D24, TSC2, TUBA1A1.80
82Hyperlipidemia, familial combined, 3EnrichmentAPOB, LDLR1.70
83Martsolf syndrome 1EnrichmentRAB3GAP1, RAB3GAP21.70
84ThalassemiaEnrichmentHBA2, HBB1.65
85Familial porencephalyEnrichmentCOL4A1, COL4A21.65
86Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A2, SPARC1.62
87Myoclonic epilepsy of unverricht and lundborgEnrichmentGOSR2, SCARB2, TBC1D241.60
88Myopathy, centronuclear, 1EnrichmentBIN1, DNM21.54
89Cowden syndrome 1EnrichmentEGFR, LDLR1.54
90Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentANK2, CALM11.54
91OsteoporosisEnrichmentCOL1A1, COL1A2, SRC1.53
92Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A21.49
93Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A21.49
943mc syndromeEnrichmentCOLEC11, MASP11.49
95Lipid metabolism disorderEnrichmentAPOE, LDLR1.49
96Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A21.49
97Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B1.41
98Renal cell carcinoma with mit translocationsEnrichmentASPSCR1, CLTC1.41
99Cerebral palsyEnrichmentCOL4A1, COL4A2, F8, TUBA1A, TUBB4A1.37
100Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A21.36
101MyelofibrosisEnrichmentCALR, SRC1.36
102Beta-thalassemiaEnrichmentHBA2, HBB1.36
103Beta-thalassemia majorEnrichmentHBA2, HBB1.36
104Nonsyndromic hearing lossEnrichmentACTG1, GJB2, GJB3, GJB6, MYO61.35
105Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA11.33
106Elliptocytosis 2EnrichmentSPTA11.33
107Fibrosis of extraocular muscles, congenital, 1EnrichmentKIF21A1.33
108Bart-pumphrey syndromeEnrichmentGJB21.33
109Proteus syndromeEnrichmentAKT11.33
110Diabetes insipidus, neurohypophysealEnrichmentAVP1.33
111Clouston syndromeEnrichmentGJB61.33
112Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A11.33
113Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A11.33
114Charcot-marie-tooth disease, axonal, type 2a1EnrichmentKIF1B1.33
115Perry syndromeEnrichmentDCTN11.33
116Vohwinkel syndromeEnrichmentGJB21.33
117Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual developmentEnrichmentKIF111.33
118Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.33
119Achondrogenesis, type iaEnrichmentTRIP111.33
120Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A11.33
121Hypoplastic left heart syndrome 1EnrichmentGJA11.33
122Keratitis-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentAP1B11.33
123Amyotrophic lateral sclerosis 2, juvenileEnrichmentALS21.33
124Baraitser-winter syndrome 1EnrichmentACTB1.33
125Thrombophilia, x-linked, due to factor viii defectEnrichmentF81.33
126Waisman syndromeEnrichmentRAB39B1.33
127Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.33
128Intellectual developmental disorder, x-linked 100EnrichmentKIF4A1.33
129Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S11.33
130Cardiac arrhythmia, ankyrin-b-relatedEnrichmentANK21.33
131Griscelli syndrome, type 2EnrichmentRAB27A1.33
132Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A1.33
133Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR21.33
134Taurodontism, microdontia, and dens invaginatusEnrichmentKIF4A1.33
135Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR21.33
136Spinocerebellar ataxia 5EnrichmentSPTBN21.33
137Cataract 14, multiple typesEnrichmentGJA31.33
138Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.33
139Immunodeficiency 61EnrichmentSH3KBP11.33
140Hypomagnesemia 4, renalEnrichmentEGF1.33
141Deafness, autosomal dominant 3aEnrichmentGJB21.33
142Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A11.33
143Dystonia 1, torsion, autosomal dominantEnrichmentTOR1A1.33
144Deafness, autosomal dominant 17EnrichmentMYH91.33
145Lymphatic malformation 3EnrichmentGJC21.33
146Cataract 31, multiple typesEnrichmentCHMP4B1.33
147Neurodegeneration with brain iron accumulation 3EnrichmentFTL1.33
148Spastic paralysis, infantile-onset ascendingEnrichmentALS21.33
149Craniolenticulosutural dysplasiaEnrichmentSEC23A1.33
150Keratitis-ichthyosis-deafness syndrome, autosomal dominantEnrichmentGJB21.33
151Oculodentodigital dysplasiaEnrichmentGJA11.33
152Deafness, autosomal dominant 22EnrichmentMYO61.33
153Deafness, autosomal dominant 3bEnrichmentGJB61.33
154Transient bullous dermolysis of the newbornEnrichmentCOL7A11.33
155Parkinson disease 19a, juvenile-onsetEnrichmentDNAJC61.33
156Warburg micro syndrome 2EnrichmentRAB3GAP21.33
157Cataract 1, multiple typesEnrichmentGJA81.33
158Congenital disorder of glycosylation, type iilEnrichmentCOG61.33
159Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A11.33
160Developmental and epileptic encephalopathy 5EnrichmentSPTAN11.33
161Type 2 diabetes 5EnrichmentTBC1D41.33
162Factor v and factor viii, combined deficiency of, 2EnrichmentMCFD21.33
163Donnai-barrow syndromeEnrichmentLRP21.33
164Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD551.33
165Factor v deficiencyEnrichmentF51.33
166Intellectual developmental disorder, autosomal recessive 37EnrichmentANK31.33
167Spastic paraplegia 57, autosomal recessiveEnrichmentTFG1.33
168Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM21.33
169Blood group, cromer systemEnrichmentCD551.33
170Mucopolysaccharidosis, type iiidEnrichmentGNS1.33
171Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.33
172Intellectual developmental disorder, autosomal recessive 13EnrichmentTRAPPC91.33
173Odontochondrodysplasia 1EnrichmentTRIP111.33
174Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.33
175Congenital disorder of glycosylation, type iijEnrichmentCOG41.33
176Griscelli syndrome, type 1EnrichmentMYO5A1.33
177Low density lipoprotein cholesterol level quantitative trait locus 6EnrichmentSORT11.33
178Muscular dystrophy, congenital, with rapid progressionEnrichmentBET11.33
179Neuroblastoma 1EnrichmentKIF1B1.33
180Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.33
181Deafness, autosomal recessive 86EnrichmentTBC1D241.33
182Intellectual developmental disorder, autosomal recessive 52EnrichmentLMAN2L1.33
183Deafness, autosomal dominant 2bEnrichmentGJB31.33
184Hermansky-pudlak syndrome 9EnrichmentBLOC1S61.33
185Hermansky-pudlak syndrome 8EnrichmentBLOC1S31.33
186Cole-carpenter syndrome 2EnrichmentSEC24D1.33
187Developmental and epileptic encephalopathy 53EnrichmentSYNJ11.33
188Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A1.33
189Thrombophilia due to activated protein c resistanceEnrichmentF51.33
190AtransferrinemiaEnrichmentTF1.33
191Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA11.33
192Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.33
193Halperin-birk syndromeEnrichmentSEC31A1.33
194Congenital disorder of glycosylation, type iiqEnrichmentCOG21.33
195Osteoporosis, childhood- or juvenile-onset, with developmental delayEnrichmentCOPB21.33
196Odontochondrodysplasia 2 with hearing loss and diabetesEnrichmentMIA31.33
197Cardiomyopathy, familial restrictive, 6EnrichmentKIF20A1.33
198Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.33
199Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.33
200Parkinson disease 26, autosomal dominantEnrichmentRAB321.33
201Developmental and epileptic encephalopathy 107EnrichmentNAPB1.33
202Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A1.33
203Intellectual developmental disorder, autosomal dominant 69EnrichmentLMAN2L1.33
204Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphismEnrichmentPUM11.33
205Spherocytosis, type 3EnrichmentSPTA11.33
206Baker-gordon syndromeEnrichmentSYT11.33
207Congenital myopathy 27EnrichmentPACSIN31.33
208Intellectual developmental disorder, x-linked 41EnrichmentGDI11.33
209Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.33
210Okt4 epitope deficiencyEnrichmentCD41.33
211Charcot-marie-tooth disease type 2bEnrichmentRAB7A1.33
212Microcephaly 19, primary, autosomal recessiveEnrichmentCOPB21.33
213Charcot-marie-tooth disease, axonal, type 2ggEnrichmentGBF11.33
214Neurodegeneration with brain iron accumulation 7EnrichmentREPS11.33
215Amyotrophic lateral sclerosis 15 with or without frontotemporal dementiaEnrichmentUBQLN21.33
216Nephrotic syndrome, type 20EnrichmentTBC1D8B1.33
217Saul-wilson syndromeEnrichmentCOG41.33
218Long qt syndrome 4EnrichmentANK21.33
219Deafness, autosomal recessive 37EnrichmentMYO61.33
220Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominantEnrichmentBICD21.33
221StutteringEnrichmentAP4E11.33
222Oculoskeletodental syndromeEnrichmentPIK3C2A1.33
223Intellectual developmental disorder, x-linked 72EnrichmentRAB39B1.33
224Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.33
225Deeah syndromeEnrichmentMADD1.33
226Spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominantEnrichmentBICD21.33
227Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN21.33
228Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.33
229Lowe oculocerebrorenal syndromeEnrichmentOCRL1.33
230Martsolf syndrome 2EnrichmentRAB3GAP11.33
231Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN11.33
232Hereditary spastic paraplegia 51EnrichmentAP4E11.33
233Central diabetes insipidusEnrichmentAVP1.33
234Ichthyosis, hystrix-like, with deafnessEnrichmentGJB21.33
235X-linked nephrogenic diabetes insipidusEnrichmentAVPR21.33
236Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA11.33
237Myoclonus, intractable, neonatalEnrichmentKIF5A1.33
238Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.33
239Cortical dysplasia, complex, with other brain malformations 11EnrichmentKIF26A1.33
240Immunodeficiency 76EnrichmentFCHO11.33
241Usmani-riazuddin syndrome, autosomal recessiveEnrichmentAP1G11.33
242Cholestasis, progressive familial intrahepatic, 8EnrichmentKIF121.33
243Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.33
244Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominantEnrichmentSYT21.33
245Developmental and epileptic encephalopathy 49EnrichmentDENND5A1.33
246Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.33
247Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matterEnrichmentRAB11B1.33
248Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyEnrichmentTRAPPC6B1.33
249Spondyloepimetaphyseal dysplasia with joint laxity, type 2EnrichmentKIF221.33
250Amyotrophic lateral sclerosis 25EnrichmentKIF5A1.33
251Epidermolysis bullosa pruriginosaEnrichmentCOL7A11.33
252Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.33
253Becker nevus syndromeEnrichmentACTB1.33
254Neurodegeneration due to cerebral folate transport deficiencyEnrichmentFOLR11.33
255Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's crampEnrichmentTBC1D241.33
256Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN11.33
257Spastic paraplegia 44, autosomal recessiveEnrichmentGJC21.33
258Ocular motility diseaseEnrichmentKIF21A1.33
259Dystonia-deafness syndrome 1EnrichmentACTB1.33
260Infantile liver failure syndrome 3EnrichmentRINT11.33
261Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.33
262Hyperpigmentation, familial progressive, 1EnrichmentSPTA11.33
263Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.33
264Charcot-marie-tooth disease type 2a1EnrichmentKIF1B1.33
265Hermansky-pudlak syndrome 7EnrichmentDTNBP11.33
266Lethal congenital contracture syndrome 5EnrichmentDNM21.33
267Developmental delay with hypotonia, myopathy, and brain abnormalitiesEnrichmentGOLGA21.33
268Congenital disorder of glycosylation, type iiaaEnrichmentSTX51.33
269Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.33
270Psoriasis 15, pustularEnrichmentAP1S31.33
271Spastic paraplegia 51, autosomal recessiveEnrichmentAP4E11.33
272Spastic paraplegia 53, autosomal recessiveEnrichmentVPS37A1.33
273Shaheen syndromeEnrichmentCOG61.33
274Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP21.33
275Deafness, autosomal recessive 123EnrichmentSTX41.33
276Long qt syndrome 16EnrichmentCALM31.33
277Cowden syndrome 6EnrichmentAKT11.33
278Developmental and epileptic encephalopathy 115EnrichmentSNF81.33
279Immunodeficiency 46EnrichmentTFRC1.33
280Congenital disorder of glycosylation, type iitEnrichmentGALNT21.33
281L-ferritin deficiencyEnrichmentFTL1.33
282Retinitis pigmentosa 89EnrichmentKIF3B1.33
283Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.33
284Short stature-micrognathia syndromeEnrichmentARCN11.33
285Deafness, autosomal dominant 65EnrichmentTBC1D241.33
286Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.33
287Alpha-1-antitrypsin deficiencyEnrichmentSERPINA11.33
288Thyroid gland diseaseEnrichmentCOL7A11.33
289Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathyEnrichmentCD591.33
290Warburg micro syndrome 3EnrichmentRAB181.33
291Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.33
292Spastic paraplegia 52, autosomal recessiveEnrichmentAP4S11.33
293Hemangioma of liverEnrichmentGJA41.33
294Neutropenia, severe congenital, 5, autosomal recessiveEnrichmentVPS451.33
295Hermansky-pudlak syndrome 4EnrichmentHPS41.33
296Dync1h1-related disordersEnrichmentDYNC1H11.33
297Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.33
298Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE1.33
299Cog4-congenital disorder of glycosylationEnrichmentCOG41.33
300Spastic paraplegia 80, autosomal dominantEnrichmentUBAP11.33
301Als2-related disorderEnrichmentALS21.33
302Thrombocytopenia 6EnrichmentSRC1.33
303Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.33
3048p11.2 deletion syndromeEnrichmentANK11.33
305Autoinflammation and autoimmunity, systemic, with immune dysregulationEnrichmentCOPA1.33
306Usmani-riazuddin syndrome, autosomal dominantEnrichmentAP1G11.33
307Spherocytosis, type 2EnrichmentSPTB1.33
308Erythrokeratodermia variabilis et progressiva 2EnrichmentGJB41.33
309Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA11.33
310Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.33
311Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA11.33
312Gjc2-related late-onset primary lymphedemaEnrichmentGJC21.33
313Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.33
314Pontocerebellar hypoplasia, type 13EnrichmentVPS511.33
315Spastic paraplegia 30b, autosomal recessiveEnrichmentKIF1A1.33
316Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyEnrichmentTRAPPC41.33
317Intellectual disability-hyperkinetic movement-truncal ataxia syndromeEnrichmentTRAPPC111.33
318Neurodevelopmental disorder with seizures and brain atrophyEnrichmentEXOC71.33
319Immunodeficiency 79EnrichmentCD41.33
320Baralle-macken syndromeEnrichmentCOPB11.33
321Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I21.33
322Arthrogryposis multiplex congenita 5EnrichmentTOR1A1.33
323Neurodevelopmental disorder with microcephaly, seizures, and brain atrophyEnrichmentEXOC81.33
324Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotoniaEnrichmentMADD1.33
325Neuropathy with hearing impairmentEnrichmentGJB31.33
326Elliptocytosis 3EnrichmentSPTB1.33
327Griscelli syndromeEnrichmentRAB27A1.33
328Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA11.33
329Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A11.33
330Cerebellar ataxia type 47EnrichmentPUM11.33
331Factor v atlanta bleeding disorderEnrichmentF51.33
332Myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessiveEnrichmentSYT21.33
333Immunodeficiency 19, severe combinedEnrichmentCD3D1.33
334Warburg micro syndrome 4EnrichmentTBC1D201.33
335Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.33
336Autoinflammatory-pancytopenia syndromeEnrichmentDNASE21.33
337Braddock-carey syndrome 2EnrichmentKIF151.33
338Prolactin-producing pituitary gland adenomaEnrichmentLRP21.33
339Neurodevelopmental disorder with microcephaly, short stature, and speech delayEnrichmentTRAPPC101.33
340Hermansky-pudlak syndrome due to ap3b1 deficiencyEnrichmentAP3B11.33
341Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN11.33
342Developmental delay with or without epilepsyEnrichmentSPTAN11.33
343Long qt syndrome 15EnrichmentCALM21.33
344Baraitser-winter syndromeEnrichmentACTB1.33
345Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.33
346Congenital myopathy 26EnrichmentTUBA4A1.33
347Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.33
348Autosomal dominant distal hereditary motor neuronopathyEnrichmentBICD21.33
349Neurodevelopmental disorder plus optic atrophyEnrichmentSNF81.33
350Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.33
351Congenital myasthenic syndrome 7EnrichmentSYT21.33
352Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN11.33
353Congenital disorder of glycosylation, type iibbEnrichmentCOG31.33
354Congenital insensitivity to pain with severe intellectual disabilityEnrichmentCLTCL11.33
355Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM21.33
356Capillary hemangiomaEnrichmentAKT31.33
357Neurodegenerative syndrome due to cerebral folate transport deficiencyEnrichmentFOLR11.33
358Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutationEnrichmentSERPINA11.33
359Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyEnrichmentKLC41.33
360Factor v leiden thrombophiliaEnrichmentF51.33
361Tbc1d24-related disordersEnrichmentTBC1D241.33
36221q22.11q22.12 microdeletion syndromeEnrichmentKIF151.33
363Congenital dyserythropoietic anemia type iiibEnrichmentRACGAP11.33
364Aquagenic palmoplantar keratodermaEnrichmentCFTR1.33
365Genetic hyperferritinemia without iron overloadEnrichmentFTL1.33
366Porokeratotic eccrine ostial and dermal duct nevusEnrichmentGJB21.33
367Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.33
368Autosomal dominant nonsyndromic hearing loss 3aEnrichmentGJB21.33
369Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.33
370Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.33
371Skin hemangiomaEnrichmentGJA41.33
372Severe congenital neutropenia 5EnrichmentVPS451.33
373Protein-losing enteropathyEnrichmentCD551.33
374Congenital smooth muscle hamartomaEnrichmentACTB1.33
375Dyt1 early-onset isolated dystoniaEnrichmentTOR1A1.33
376Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A11.33
377Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.33
378Immunodeficiency 19EnrichmentCD3D1.33
379Immunodeficiency 128EnrichmentCOPG11.33
380Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.33
381Autosomal recessive spastic paraplegia type 69EnrichmentRAB3GAP21.33
382Spondyloepiphyseal dysplasia, holling typeEnrichmentBNIP11.33
383Focal epilepsy-intellectual disability-cerebro-cerebellar malformationEnrichmentTBC1D241.33
384Anemia, congenital dyserythropoietic, type iiib, autosomal recessiveEnrichmentRACGAP11.33
385Cog6-congenital disorder of glycosylationEnrichmentCOG61.33
386Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.33
387Factor v amsterdam bleeding disorderEnrichmentF51.33
388Progressive myoclonic epilepsy with dystoniaEnrichmentTBC1D241.33
389Oculocerebrodental syndromeEnrichmentPIK3C2A1.33
390Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A11.33
391Isolated megalencephalyEnrichmentTBC1D71.33
392Lissencephaly due to lis1 mutationEnrichmentPAFAH1B11.33
393T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R1.33
394Periodic paralysisEnrichmentTBC1D241.33
395Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.33
396Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A1.33
397Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutationEnrichmentTFG1.33
398Pum1-related cerebellar ataxiaEnrichmentPUM11.33
399Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.33
400Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.33
401Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A11.33
402Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeEnrichmentCOG61.33
403Infantile-onset ascending hereditary spastic paralysisEnrichmentALS21.33
404Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeEnrichmentTRAPPC91.33
405Akt2-related familial partial lipodystrophyEnrichmentAKT21.33
406Hereditary arginine vasopressin deficiencyEnrichmentAVP1.33
407Charcot-marie-tooth disease type 4EnrichmentDYNC1H1, SBF1, SBF21.31
408Long qt syndrome 1EnrichmentANK2, CALM1, CALM2, CALM31.30
4093mc syndrome 1EnrichmentMASP11.30
410Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A21.30
411Atrophoderma vermiculataEnrichmentLRP11.30
412Sea-blue histiocyte diseaseEnrichmentAPOE1.30
413Coronary heart disease 7EnrichmentCD361.30
414High density lipoprotein cholesterol level quantitative trait locus 6EnrichmentSCARB11.30
415Focal segmental glomerulosclerosis 4EnrichmentAPOL11.30
416Lipoprotein glomerulopathyEnrichmentAPOE1.30
417Keratosis pilaris atrophicansEnrichmentLRP11.30
418Hyperthyroxinemia, familial dysalbuminemicEnrichmentALB1.30
419Acrogeria, gottron typeEnrichmentCOL3A11.30
420Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A21.30
421AnhaptoglobinemiaEnrichmentHP1.30
422PorencephalyEnrichmentCOL4A11.30
423Platelet glycoprotein iv deficiencyEnrichmentCD361.30
424Congenital analbuminemiaEnrichmentALB1.30
425Serum amyloid a amyloidosisEnrichmentSAA11.30
426Sickle cell-beta-thalassemia disease syndromeEnrichmentHBB1.30
427Asphyxia neonatorumEnrichmentCOL1A11.30
428AnalbuminemiaEnrichmentALB1.30
429Col4a1-related disordersEnrichmentCOL4A11.30
430HyperferritinemiaEnrichmentSTAB11.30
431Hemoglobin c-beta-thalassemia syndromeEnrichmentHBB1.30
432Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A11.30
433Sickle cell s-o arab diseaseEnrichmentHBB1.30
434Sickle cell-beta zero-thalassemiaEnrichmentHBB1.30
435Abdominal aortic aneurysmEnrichmentCOL3A11.30
436Sickle cell s-d punjab diseaseEnrichmentHBB1.30
437Sickle cell s-c diseaseEnrichmentHBB1.30
438Sickle cell s-e diseaseEnrichmentHBB1.30
439Homozygous hemoglobin o arab diseaseEnrichmentHBB1.30
440Sickle cell s-other specified hemoglobin variantEnrichmentHBB1.30
441Severe congenital neutropeniaEnrichmentFCHO1, VPS451.29
442CryptorchidismEnrichmentRAB3GAP1, TUBA1A1.29
443Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentANK2, CALM11.29
444Early-onset posterior polar cataractEnrichmentCHMP4B, GJA31.29
445Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA1, GJB2, GJB3, GJB6, GOSR2, MYH9, MYO6, TBC1D241.25
446Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A1, TRAPPC21.25
447Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentKIF1A, KIF5A, TFG1.25
448Esophageal atresia/tracheoesophageal fistulaEnrichmentAP1G2, ITSN1, RAB3GAP21.25
449Cryptorchidism, unilateral or bilateralEnrichmentRAB3GAP1, TUBA1A1.20
450Coronary heart disease 5EnrichmentAPOB, LDLR1.20
451Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B1.20
452Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A11.18
453Severe combined immunodeficiencyEnrichmentCD3D, CD3G, IL7R, MCFD21.18
454ThrombocytopeniaEnrichmentF8, MCFD2, MYH9, SRC, TUBB11.14
455Cataract 30, multiple typesEnrichmentGJA3, GJA81.11
456Neurodegeneration with brain iron accumulationEnrichmentPLA2G6, REPS11.11
457PolymicrogyriaEnrichmentAKT3, DYNC1H11.11
458Progressive myoclonus epilepsyEnrichmentGOSR2, SCARB21.11
459Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB11.11
460DystoniaEnrichmentARF3, GJC2, MYO5A, TOR1A1.10
461Movement diseaseEnrichmentRAB3GAP1, TBC1D241.04
462Specific learning disabilityEnrichmentTBC1D24, YWHAG1.04
463Presynaptic congenital myasthenic syndromesEnrichmentSLC18A3, SYT21.04
464Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.04
465Periodontitis, aggressive, 1EnrichmentCTSC1.04
466Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.04
467Atrial standstill 1EnrichmentGJA51.04
468Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.04
469Amyotrophy, hereditary neuralgicEnrichmentNAPB1.04
470Precocious puberty, male-limitedEnrichmentSTON1-GTF2A1L1.04
471Haim-munk syndromeEnrichmentCTSC1.04
472VitreoretinochoroidopathyEnrichmentFTH11.04
473Papillon-lefevre syndromeEnrichmentCTSC1.04
474Chylomicron retention diseaseEnrichmentSAR1B1.04
475Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentKIF111.04
476Leydig cell hypoplasia, type iEnrichmentSTON1-GTF2A1L1.04
477Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.04
478Spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophyEnrichmentRAB33A1.04
479Spondyloepiphyseal dysplasia tarda, x-linkedEnrichmentTRAPPC21.04
480Spermatogenic failure, y-linked, 2EnrichmentCFTR1.04
481Spinocerebellar ataxia, x-linked 1EnrichmentGJB11.04
482Charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxiaEnrichmentRAB33A1.04
483Ovarian germ cell cancerEnrichmentCBL1.04
484Combined oxidative phosphorylation deficiency 6EnrichmentRAB33A1.04
485Cataract 35EnrichmentMYH91.04
486Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.04
487Alveolar soft part sarcomaEnrichmentASPSCR11.04
488Dent disease 2EnrichmentOCRL1.04
489Cataract 11, multiple typesEnrichmentGBF11.04
490Anterior segment dysgenesis 1EnrichmentGBF11.04
491Fanconi anemia, complementation group nEnrichmentDCTN51.04
492Congenital cataracts, facial dysmorphism, and neuropathyEnrichmentGJA31.04
493Spastic paraplegia 12, autosomal dominantEnrichmentUBAP11.04
494Griscelli syndrome, type 3EnrichmentMYO5A1.04
495Spastic paraplegia, optic atrophy, and neuropathyEnrichmentKLC21.04
496Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.04
497Deafness, autosomal dominant 20EnrichmentACTG11.04
498Melanoma, cutaneous malignant 6EnrichmentKLC11.04
499Primary lateral sclerosis, juvenileEnrichmentALS21.04
500Lissencephaly 1EnrichmentPAFAH1B11.04
501Retinitis pigmentosa 50EnrichmentFTH11.04
502Baraitser-winter syndrome 2EnrichmentACTG11.04
503Chudley-mccullough syndromeEnrichmentSPTB1.04
504Hallermann-streiff syndromeEnrichmentGJA11.04
505Myoclonic epilepsy, familial infantileEnrichmentTBC1D241.04
506Short stature, optic nerve atrophy, and pelger-huet anomalyEnrichmentNBAS1.04
507Maturity-onset diabetes of the young, type 10EnrichmentINS1.04
508Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC61.04
509Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.04
510Pancreatic cancer 3EnrichmentDCTN51.04
511Parkinson disease 20, early-onsetEnrichmentSYNJ11.04
512Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeEnrichmentSNAP291.04
513Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.04
514Neurodevelopmental disorder with hypotonia, neuropathy, and deafnessEnrichmentSPTBN41.04
515Atrial fibrillation, familial, 11EnrichmentGJA51.04
516Developmental and epileptic encephalopathy 21EnrichmentNECAP11.04
517Syndactyly, type iiiEnrichmentGJA11.04
518Syndactyly, type vEnrichmentGJA11.04
519Congenital disorder of glycosylation, type iihEnrichmentCOG81.04
520Long qt syndrome 14EnrichmentCALM11.04
521Nescav syndromeEnrichmentKIF1A1.04
522Deafness, autosomal recessive 104EnrichmentGJB21.04
523Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.04
524Psoriasis 14, pustularEnrichmentAP1S31.04
525Hyperferritinemia with or without cataractEnrichmentFTL1.04
526Hypobetalipoproteinemia, familial, 1EnrichmentAPOB1.04
527Catifa syndromeEnrichmentRIC11.04
528Osteogenesis imperfecta, type xxiEnrichmentKDELR21.04
529HyperproinsulinemiaEnrichmentINS1.04
530Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.04
531Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC41.04
532Periventricular nodular heterotopia 8EnrichmentARF11.04
533Hemophilia bEnrichmentF81.04
534Encephalopathy, progressive, early-onset, with episodic rhabdomyolysisEnrichmentTRAPPC2L1.04
535Nephrotic syndrome, type 17EnrichmentGGA31.04
536Peho syndromeEnrichmentKIF1A1.04
537Keratoconus 9EnrichmentTUBA3D1.04
538Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentCUX11.04
539Pettigrew syndromeEnrichmentAP1S21.04
540Bleeding disorder, east texas typeEnrichmentF51.04
541Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.04
542Congenital disorder of glycosylation, type igEnrichmentAP4E11.04
543Hermansky-pudlak syndrome 2EnrichmentAP3B11.04
544Smith-mccort dysplasiaEnrichmentRAB33B1.04
545Spastic paraplegia 30a, autosomal dominantEnrichmentKIF1A1.04
546Developmental and epileptic encephalopathy 16EnrichmentTBC1D241.04
547Craniometaphyseal dysplasiaEnrichmentGJA11.04
548Microcephaly and chorioretinopathy 1EnrichmentKIF111.04
549Lissencephaly 3EnrichmentTUBA1A1.04
550Hemochromatosis, type 5EnrichmentFTH11.04
551Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A11.04
552Senior-loken syndrome 7EnrichmentAKT31.04
553Spondyloepiphyseal dysplasia tardaEnrichmentTRAPPC21.04
554Surfactant metabolism dysfunction, pulmonary, 3EnrichmentF81.04
555Developmental and epileptic encephalopathy 96EnrichmentNSF1.04
556Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A1.04
557Immunodeficiency 104, severe combinedEnrichmentIL7R1.04
558Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.04
559Congenital hemolytic anemiaEnrichmentSPTA11.04
560Multiple sclerosis 3EnrichmentIL7R1.04
561Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.04
562Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.04
563Amyotrophic lateral sclerosis 12 with or without frontotemporal dementiaEnrichmentOPTN1.04
564Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M11.04
565Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.04
566Muscular dystrophy, limb-girdle, autosomal recessive 18EnrichmentTRAPPC111.04
567Infantile liver failure syndrome 2EnrichmentNBAS1.04
568Smith-mccort dysplasia 2EnrichmentRAB33B1.04
569Neuropathy, hereditary sensory, type iicEnrichmentKIF1A1.04
570HypobetalipoproteinemiaEnrichmentAPOB1.04
571Immunodeficiency 17EnrichmentCD3G1.04
572Pseudosarcomatous fibromatosisEnrichmentMYH91.04
573Cimdag syndromeEnrichmentVPS4A1.04
574Bardet-biedl syndrome 16EnrichmentAKT31.04
575Amyotrophic lateral sclerosis type 12EnrichmentOPTN1.04
576Intellectual developmental disorder, autosomal dominant 45EnrichmentPAFAH1B31.04
577Encephalopathy, progressive, early-onset, with brain atrophy and spasticityEnrichmentTRAPPC121.04
578Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesEnrichmentTRAPPC41.04
579Torsion dystonia 4EnrichmentTUBB4A1.04
580Myasthenic syndrome, congenital, 21, presynapticEnrichmentSLC18A31.04
581Charcot-marie-tooth disease x-linked recessive 4EnrichmentRAB33A1.04
582Hereditary spastic paraplegia 30EnrichmentKIF1A1.04
583Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaEnrichmentEXOC21.04
584Leydig cell hypoplasia type iiEnrichmentSTON1-GTF2A1L1.04
585Demyelinating polyneuropathyEnrichmentKIF5A1.04
586Distal hereditary motor neuropathy type 7EnrichmentDCTN11.04
587Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeEnrichmentTRAPPC121.04
588Immunodeficiency 133EnrichmentARPC51.04
589Neurodegeneration with brain iron accumulation 9EnrichmentFTH11.04
590Malignant germ cell tumor of ovaryEnrichmentCBL1.04
591Epidermolysis bullosa dystrophicaEnrichmentCOL7A11.04
592Hereditary palmoplantar keratodermaEnrichmentGJB21.04
593Skeletal muscle diseaseEnrichmentKIF5B1.04
594Non-syndromic syndactylyEnrichmentLRP21.04
595Cog8-congenital disorder of glycosylationEnrichmentCOG81.04
596Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.04
597Continuous spikes and waves during sleepEnrichmentTUBA1A1.04
598Submucosal cleft palateEnrichmentUBB1.04
599Cleft hard palateEnrichmentUBB1.04
600Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A11.01
601Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A11.01
602Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A11.01
603Bruck syndrome 1EnrichmentCOL1A21.01
604Immunodeficiency 59 and hypoglycemiaEnrichmentHYOU11.01
605Alzheimer disease 3EnrichmentAPOE1.01
606Dermatofibrosarcoma protuberansEnrichmentCOL1A11.01
6073mc syndrome 2EnrichmentCOLEC111.01
608Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A21.01
609Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A11.01
610Methemoglobinemia, alpha typeEnrichmentHBA11.01
611Developmental dysplasia of the hip 3EnrichmentLRP11.01
612Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A11.01
613Aortic dissectionEnrichmentCOL3A11.01
614Osteogenesis imperfecta, type xviiEnrichmentSPARC1.01
615GlomerulonephritisEnrichmentAPOL11.01
616Stickler syndrome, type iiEnrichmentCOL1A11.01
617Hemoglobin lepore-beta-thalassemia syndromeEnrichmentHBB1.01
618Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA11.01
619Amyloidosis, hereditary systemic 3EnrichmentAPOA11.01
620Dentinogenesis imperfectaEnrichmentCOL1A21.01
621Sickle cell s-lepore diseaseEnrichmentHBB1.01
622Early-onset parkinson's diseaseEnrichmentDNAJC6, SYNJ10.98
623Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM1, NECAP1, SYNJ1, YWHAG0.92
624Hypercholesterolemia, familial, 1EnrichmentAPOB, LDLR0.92
625Alzheimer's diseaseEnrichmentAPOE, APP0.87
626Type 1 diabetes mellitus 2EnrichmentINS0.87
627Keratoderma, palmoplantar, with deafnessEnrichmentGJB20.87
628Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A10.87
629Gastrointestinal defects and immunodeficiency syndrome 1EnrichmentMCFD20.87
630Ifap syndrome 1, with or without bresheck syndromeEnrichmentGJB20.87
631Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR0.87
632Dyslexia 2EnrichmentKIAA03190.87
633Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC20.87
634Band heterotopiaEnrichmentPAFAH1B10.87
635Intellectual developmental disorder, x-linked 109EnrichmentSERPINA10.87
636Nuchal bleb, familialEnrichmentCFTR0.87
637Myopathy, centronuclear, x-linkedEnrichmentDNM20.87
638Charcot-marie-tooth disease, x-linked dominant, 1EnrichmentGJB10.87
639Spastic paraplegia 2, x-linkedEnrichmentRAB9B0.87
640Cleft soft palateEnrichmentUBB0.87
641Congenital disorder of glycosylation, type iigEnrichmentCOG10.87
642Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A0.87
643Glaucoma, normal tensionEnrichmentOPTN0.87
644Spastic ataxia 2, autosomal recessiveEnrichmentKIF1C0.87
645Tuberous sclerosis 2EnrichmentTSC20.87
646Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentTBC1D240.87
647Macrocephaly/megalencephaly syndrome, autosomal recessiveEnrichmentTBC1D70.87
648Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR0.87
649Charcot-marie-tooth disease, demyelinating, type 4b3EnrichmentSBF10.87
650Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN10.87
651Epilepsy, progressive myoclonic, 1bEnrichmentTBC1D240.87
652Epilepsy, progressive myoclonic, 6EnrichmentGOSR20.87
653Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB80.87
654Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN10.87
655Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A0.87
656Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC0.87
657Deafness, x-linked 5, with peripheral neuropathyEnrichmentRAB33A0.87
658Developmental and epileptic encephalopathy 31bEnrichmentDNM10.87
659Breast-ovarian cancer, familial 5EnrichmentDCTN50.87
660Muscular dystrophy, congenital, with or without seizuresEnrichmentGOSR20.87
661Dent diseaseEnrichmentOCRL0.87
662Charcot-marie-tooth disease type 4b3EnrichmentSBF10.87
663Spastic ataxia 2EnrichmentKIF1C0.87
664Distal myopathyEnrichmentBICD20.87
665X-linked deafness 5EnrichmentRAB33A0.87
666Torsion dystonia 1EnrichmentTOR1A0.87
667Syndromic x-linked intellectual disability najm typeEnrichmentLDLR0.87
668Xanthinuria, type iiEnrichmentTSC20.87
669KyphosisEnrichmentARF30.87
670Nephrogenic diabetes insipidusEnrichmentAVPR20.87
671Combined oxidative phosphorylation deficiencyEnrichmentRAB33A0.87
672Muscular atrophyEnrichmentBICD20.87
673Cog7-congenital disorder of glycosylationEnrichmentCOG70.87
674Advanced sleep phase syndromeEnrichmentCSNK1D0.87
675SclerocorneaEnrichmentGJA80.87
676Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR0.87
677Cole-carpenter syndromeEnrichmentSEC24D0.87
678Congenital diarrheaEnrichmentMON1A0.87
679Aggressive periodontitisEnrichmentCTSC0.87
680T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD3D0.87
681Cerebral sinovenous thrombosisEnrichmentF50.87
682Acute liver failureEnrichmentRINT10.87
683TyrosinemiaEnrichmentALS20.87
684Hyperpigmentation of the skinEnrichmentCOL7A10.87
685Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentALS2, CHMP2B, DCTN1, OPTN, UBQLN20.87
686Hydrops fetalis, nonimmuneEnrichmentHBA1, HBA2, KIF190.86
687Hyperalphalipoproteinemia 1EnrichmentSCARB10.85
688Retinal arteries, tortuosity ofEnrichmentCOL4A10.85
689Thrombocythemia 1EnrichmentCALR0.85
690Alzheimer disease 4EnrichmentAPOE0.85
691Caffey diseaseEnrichmentCOL1A10.85
692Brain small vessel disease 2EnrichmentCOL4A20.85
693Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A10.85
694Hypoalphalipoproteinemia, primary, 2EnrichmentAPOA10.85
695Keratosis follicularis spinulosa decalvansEnrichmentLRP10.85
696Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A10.85
697Hemoglobin e diseaseEnrichmentHBB0.85
698Sickle cell-hemoglobin c diseaseEnrichmentHBB0.85
699Hemoglobin d diseaseEnrichmentHBB0.85
700Delta beta-thalassemiaEnrichmentHBB0.85
701Unstable hemoglobin diseaseEnrichmentHBB0.85
702Hemoglobin e/beta thalassemia diseaseEnrichmentHBB0.85
703Corpus callosum, agenesis ofEnrichmentCOL4A1, TUBA1A0.77
704Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A20.77
705Anterior segment dysgenesisEnrichmentCOL4A1, GJA80.77
706Isolated corpus callosum agenesisEnrichmentCOL4A1, TUBA1A0.77
707Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A1, TUBA1A0.77
708Isolated congenital microcephalyEnrichmentRAB11A, TUBA3E0.77
709Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN10.76
710Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL20.76
711Gaucher disease, type iEnrichmentSCARB20.76
712Robinow syndrome, autosomal dominant 1EnrichmentWNT5A0.76
713Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentKIF1A0.76
714Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentSCARB20.76
715Myopathy, centronuclear, 2EnrichmentBIN10.76
716Hemophilia aEnrichmentF80.76
717Achalasia-addisonianism-alacrima syndromeEnrichmentTRAPPC110.76
718Pseudohypoparathyroidism, type ibEnrichmentSTX160.76
719Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT30.76
720ChoroideremiaEnrichmentCHM0.76
721Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT30.76
722Bestrophinopathy, autosomal recessiveEnrichmentFTH10.76
723Charcot-marie-tooth disease, demyelinating, type 4b2EnrichmentSBF20.76
724Factor viii deficiencyEnrichmentF80.76
725Dentin dysplasia, type iEnrichmentVPS4B0.76
726Congenital disorder of glycosylation, type iiiEnrichmentCOG50.76
727Aminoacylase 1 deficiencyEnrichmentACTB0.76
728Spastic paraplegia 47, autosomal recessiveEnrichmentAP4B10.76
729Hereditary sensory and autonomic neuropathy type 2EnrichmentKIF1A0.76
730Neonatal diabetes mellitusEnrichmentINS0.76
731Charcot-marie-tooth disease type 4b2EnrichmentSBF20.76
732Retinopathy of prematurityEnrichmentFZD40.76
733Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC0.76
734ProlactinomaEnrichmentLRP20.76
735Pregnancy loss, recurrent 1EnrichmentF50.76
736Mucopolysaccharidosis ivEnrichmentTRAPPC2L0.76
737Idiopathic bronchiectasisEnrichmentCFTR0.76
738Epidermolytic hyperkeratosisEnrichmentCOL7A10.76
739Diabetes insipidusEnrichmentAVP0.76
740Autosomal dominant robinow syndromeEnrichmentWNT5A0.76
741Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN10.76
742Cog5-congenital disorder of glycosylationEnrichmentCOG50.76
743Pseudomyogenic hemangioendotheliomaEnrichmentACTB0.76
744Long qt syndromeEnrichmentANK2, CALM1, CALM20.76
745PhenylketonuriaEnrichmentCOL1A10.73
746SchizencephalyEnrichmentCOL4A10.73
747Macular degeneration, age-related, 1EnrichmentAPOE0.73
748Hypoalphalipoproteinemia, primary, 1EnrichmentAPOA10.73
749Sickle cell diseaseEnrichmentHBB0.73
750Beta-thalassemia, dominant inclusion body typeEnrichmentHBB0.73
751Barrett esophagusEnrichmentMSR10.73
752Erythrocytosis, familial, 6EnrichmentHBB0.73
753Beta-thalassemia intermediaEnrichmentHBB0.73
754HemoglobinopathyEnrichmentHBB0.73
755Blood platelet diseaseEnrichmentCD360.73
756Hemoglobin c diseaseEnrichmentHBB0.73
757Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeEnrichmentHBB0.73
758Cerebral malariaEnrichmentCD360.73
759Methemoglobinemia, beta-globin typeEnrichmentHBB0.73
760Cystic fibrosisEnrichmentCFTR, DCTN4, SERPINA10.73
761Primary autosomal recessive microcephalyEnrichmentCENPE, COPB2, TRAPPC100.73
762Peripheral nervous system diseaseEnrichmentDYNC1H1, GJB1, KIF5A0.73
763NeuropathyEnrichmentDYNC1H1, GJB1, KIF5A0.73
764Syndromic intellectual disabilityEnrichmentKIF1A, SYT10.73
765Neuromuscular diseaseEnrichmentGOLGA2, SPTAN10.69
766Early-onset nuclear cataractEnrichmentGJA3, GJA80.69
767Alzheimer disease, familial, 1EnrichmentAPOE, APP0.69
768Cataract 6, multiple typesEnrichmentCHMP4B0.67
769Hypertrophic neuropathy of dejerine-sottasEnrichmentGJB10.67
770Epidermolytic hyperkeratosis 1EnrichmentCOL7A10.67
771Kbg syndromeEnrichmentTRAPPC2L0.67
772Macular dystrophy, vitelliform, 2EnrichmentFTH10.67
773Exudative vitreoretinopathy 1EnrichmentFZD40.67
774Multiple endocrine neoplasia, type iiaEnrichmentKIF1B0.67
775Spherocytosis, type 1EnrichmentANK10.67
776Mucopolysaccharidosis, type ivaEnrichmentTRAPPC2L0.67
777Kearns-sayre syndromeEnrichmentKIF5B0.67
778Robinow syndrome, autosomal recessive 1EnrichmentWNT5A0.67
779Norrie diseaseEnrichmentFZD40.67
780Deafness, autosomal recessive 63EnrichmentMYH90.67
781Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentOPTN0.67
782Chondrosarcoma, extraskeletal myxoidEnrichmentTFG0.67
783Liver failure, infantile, transientEnrichmentNBAS0.67
784Pontocerebellar hypoplasia, type 2dEnrichmentVPS530.67
785Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B10.67
786Developmental and epileptic encephalopathy 31aEnrichmentDNM10.67
787Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentTRAPPC110.67
788Pervasive developmental disorderEnrichmentSPTBN10.67
789Congenital ptosisEnrichmentRAB3GAP10.67
790Myeloproliferative neoplasmEnrichmentCBL0.67
791PseudohermaphroditismEnrichmentSTON1-GTF2A1L0.67
792Epidermolysis bullosaEnrichmentCOL7A10.67
793Night blindnessEnrichmentCHM0.67
794Spinal muscular atrophyEnrichmentDYNC1H10.67
795Persistent hyperplastic primary vitreousEnrichmentFZD40.67
796Cleft upper lipEnrichmentGJA10.67
797Female infertility due to oocyte meiotic arrestEnrichmentTUBB80.67
798HemimegalencephalyEnrichmentAKT30.67
799Multiple acyl-coa dehydrogenase deficiency, severe neonatal typeEnrichmentMADD0.67
800Coloboma of choroid and retinaEnrichmentACTG10.67
801Aggressive systemic mastocytosisEnrichmentCBL0.67
802Genetic motor neuron diseaseEnrichmentDCTN10.67
803Endometrial stromal sarcomaEnrichmentYWHAE0.67
804Sensory peripheral neuropathyEnrichmentGJB10.67
805Rare pervasive developmental disorderEnrichmentSPTBN10.67
806Alzheimer disease 2EnrichmentAPOE0.65
807Amyloidosis, hereditary systemic 2EnrichmentAPOA10.65
808Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentHBB0.65
809Familial cerebral saccular aneurysmEnrichmentCOL3A10.65
810Non-syndromic genetic deafnessEnrichmentACTG1, GJB2, MYO60.63
811Genetic steroid-resistant nephrotic syndromeEnrichmentAPOL1, GAPVD1, TBC1D8B0.62
812Autism spectrum disorderEnrichmentANK2, DYNC1H1, GJB2, GRIA1, SBF1, TRAPPC9, TSC20.60
813Fetal akinesia deformation sequence 1EnrichmentKIF21A, SLC18A3, TUBA1A0.60
814Glaucoma, primary open angleEnrichmentOPTN0.60
815Dystonia 11, myoclonicEnrichmentTOR1A0.60
816Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.60
817Type 1 diabetes mellitusEnrichmentINS0.60
818Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO60.60
819Renal tubular dysgenesisEnrichmentAGTR10.60
820Hemangioma, capillary infantileEnrichmentMYH90.60
821Deafness, autosomal recessive 12EnrichmentGJB20.60
822Inflammatory myofibroblastic tumorEnrichmentCLTC0.60
823Autosomal recessive intellectual developmental disorderEnrichmentTRAPPC90.60
824Autosomal recessive robinow syndromeEnrichmentWNT5A0.60
825Pain disorderEnrichmentGJB10.60
826Mucopolysaccharidosis iiiEnrichmentGNS0.60
827Early myoclonic encephalopathyEnrichmentTUBA1A0.60
828Breast adenocarcinomaEnrichmentAKT10.60
829Lung squamous cell carcinomaEnrichmentEGFR0.60
830HypertrichosisEnrichmentRAB3GAP10.60
831Kidney clear cell sarcomaEnrichmentYWHAE0.60
832Multicystic kidney dysplasiaEnrichmentKIF4A0.60
833Early-onset sutural cataractEnrichmentGJA80.60
834Syndromic rod-cone dystrophyEnrichmentKIF110.60
835Multicystic dysplastic kidneyEnrichmentKIF4A0.60
836Anterior segment dysgenesis 5EnrichmentCOL4A10.58
837Nevus, epidermalEnrichmentCOL7A10.54
838Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.54
839Squamous cell carcinoma, head and neckEnrichmentEGFR0.54
840Coats diseaseEnrichmentFZD40.54
841Noonan syndrome 3EnrichmentCLTC0.54
842Pontocerebellar hypoplasia, type 2eEnrichmentVPS530.54
843Semantic dementiaEnrichmentCHMP2B0.54
844Alzheimer's disease 1EnrichmentAPP0.54
845Polycystic kidney disease 1EnrichmentTSC20.54
846ParkinsonismEnrichmentTBC1D240.54
847Motor neuron diseaseEnrichmentOPTN0.54
848MegacolonEnrichmentAKT30.54
849Focal epilepsyEnrichmentSPTAN10.54
850Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP0.54
851Familial isolated restrictive cardiomyopathyEnrichmentKIF20A0.54
852MyopathyEnrichmentBICD2, DNM2, DYNC1H10.54
853Noonan syndrome 1EnrichmentCBL, GJB20.53
854Multisystem inflammatory syndrome in childrenEnrichmentCD163, RAB27A0.52
855Essential thrombocythemiaEnrichmentCALR0.52
856Benign epilepsy with centrotemporal spikesEnrichmentSCARB2, SPTAN1, TBC1D240.52
857Ear malformationEnrichmentGJB2, MYO60.51
858Autoinflammatory diseaseEnrichmentAP3B1, RAB27A0.51
859Type 2 diabetes mellitusEnrichmentAKT2, SLC2A4, TBC1D40.50
860Brittle bone disorderEnrichmentCOL1A1, COL1A20.50
861MalariaEnrichmentCD36, HBB0.50
862Immunodeficiency 47EnrichmentCOG70.50
863Lennox-gastaut syndromeEnrichmentDNM10.50
864Exudative vitreoretinopathyEnrichmentFZD40.50
865NeuroblastomaEnrichmentKIF1B0.50
866Permanent neonatal diabetes mellitusEnrichmentINS0.50
867Hypoplastic left heart syndromeEnrichmentGJA10.50
868Cataract - microcornea syndromeEnrichmentGJA80.50
869Isolated split hand-split foot malformationEnrichmentEPS15L10.50
870Centralopathic epilepsyEnrichmentSCARB2, SPTAN1, TBC1D240.49
871Developmental and epileptic encephalopathy 1EnrichmentSYNJ1, TBC1D240.48
872Jeune thoracic dystrophyEnrichmentGRK2, SPTAN10.48
873Fetal hemoglobin quantitative trait locus 1EnrichmentHBB0.48
874Tracheoesophageal fistula with or without esophageal atresiaEnrichmentAP1G20.46
875Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR0.46
876Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR0.46
877Myoclonic-atonic epilepsyEnrichmentAP2M10.46
878Developmental and epileptic encephalopathy 14EnrichmentTBC1D240.46
879Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.46
880Progressive non-fluent aphasiaEnrichmentCHMP2B0.46
881Limb-girdle muscular dystrophyEnrichmentTRAPPC110.46
882Cowden syndromeEnrichmentAKT10.46
883Autosomal dominant cerebellar ataxiaEnrichmentKIF26B0.46
884Behavioral variant of frontotemporal dementiaEnrichmentCHMP2B0.46
885Juvenile amyotrophic lateral sclerosisEnrichmentALS20.46
886Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A10.43
887Asphyxiating thoracic dystrophyEnrichmentGRK2, SPTAN10.42
888Amyotrophic lateral sclerosis 1EnrichmentDCTN10.42
889Cat eye syndromeEnrichmentACTG10.42
890Omenn syndromeEnrichmentIL7R0.42
891Stroke, ischemicEnrichmentF50.42
892Isolated tracheo-esophageal fistulaEnrichmentAP1G20.42
893Sensorineural hearing lossEnrichmentGJB2, RAB33A, STX40.41
894Bladder cancerEnrichmentEGFR, TSC10.40
895Differentiated thyroid carcinomaEnrichmentGOLGA5, TFG0.40
896Peters-plus syndromeEnrichmentCOL4A10.40
897Pectus excavatumEnrichmentARF30.39
898Immune deficiency diseaseEnrichmentCOPB10.39
899Frontotemporal dementia 1EnrichmentDCTN10.39
900Combined immunodeficiencyEnrichmentTFRC0.39
901Lung non-small cell carcinomaEnrichmentEGFR0.39
902IchthyosisEnrichmentCOL7A10.39
903Combined t cell and b cell immunodeficiencyEnrichmentTFRC0.39
904Diabetes mellitusEnrichmentINS0.39
905Combined t and b cell immunodeficiencyEnrichmentTFRC0.39
906AsthmaEnrichmentSCGB3A20.37
907Septooptic dysplasiaEnrichmentRALGAPB0.36
908Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentTRAPPC110.36
909Digeorge syndromeEnrichmentSEC24C0.36
910Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.36
911Juvenile myelomonocytic leukemiaEnrichmentCBL0.36
912Congenital hypothyroidismEnrichmentTUBB10.36
913MeningiomaEnrichmentAKT10.36
914Lip and oral cavity carcinomaEnrichmentEGFR0.36
915Connective tissue diseaseEnrichmentTRAPPC2, TRIP110.35
916Non-immune hydrops fetalisEnrichmentHBA2, KIF190.34
917Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK2, SPTAN10.34
918Pulmonary disease, chronic obstructiveEnrichmentSERPINA10.33
919OligospermiaEnrichmentTBC1D250.33
920Stereotypic movement disorderEnrichmentDNM10.33
921Breast cancerEnrichmentAKT1, DCTN5, IL7R, KLC10.33
922MedulloblastomaEnrichmentANK30.31
923Lung cancer susceptibility 3EnrichmentEGFR0.31
924Periventricular nodular heterotopiaEnrichmentARF10.31
925Seckel syndromeEnrichmentCENPE0.31
926CataractEnrichmentCOPB10.31
927Congenital myasthenic syndromeEnrichmentSYT20.31
928Cleft lip/palateEnrichmentRIC10.31
929Hereditary chronic pancreatitisEnrichmentCFTR0.31
93046,xy partial gonadal dysgenesisEnrichmentVAMP70.31
931Non-syndromic x-linked intellectual disabilityEnrichmentGDI1, RAB39B0.29
932Developmental and epileptic encephalopathyEnrichmentSEC24C, SPTAN10.29
933CakutEnrichmentACTG1, COL4A10.29
934Rare genetic deafnessEnrichmentACTG1, GJB2, MYH9, MYO60.29
935Aortic aneurysm, familial thoracic 1EnrichmentCOL3A10.29
936Walker-warburg syndromeEnrichmentCOL4A10.29
937HydrocephalusEnrichmentKIF4A0.29
938Lynch syndromeEnrichmentCFTR0.29
939Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.29
940Kidney diseaseEnrichmentTSC10.29
941Noonan syndrome and noonan-related syndromeEnrichmentCBL0.29
942Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, LMAN2L, TRAPPC90.29
943Complex neurodevelopmental disorderEnrichmentANK2, AP1G1, MADD, RALA, SPTBN1, TRAPPC40.28
944Atypical hemolytic-uremic syndromeEnrichmentHBB0.27
945Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.27
946Wolff-parkinson-white syndromeEnrichmentPRKAG20.27
947Hydrocephalus, congenital, 1EnrichmentKIF4A0.27
948HypertensionEnrichmentMYH90.27
949RhabdomyosarcomaEnrichmentCBL0.27
950GliosarcomaEnrichmentEGFR0.27
951Hypertension, essentialEnrichmentAGTR10.25
952Pancreatitis, hereditaryEnrichmentCFTR0.25
953Cleft palate, isolatedEnrichmentRAB3GAP10.25
954Dandy-walker syndromeEnrichmentTUBA1A0.25
955Sudden infant death syndromeEnrichmentCALM20.25
956Cataract 44EnrichmentGJA80.25
957Giant cell glioblastomaEnrichmentEGFR0.25
958Leukemia, acute myeloidEnrichmentPICALM, SH3GL10.25
959Ovarian cancerEnrichmentAKT1, EGFR, KIF1B, MSR1, TSC20.25
960Deafness, autosomal recessiveEnrichmentGJB2, GOSR2, MYH90.24
961Beckwith-wiedemann syndromeEnrichmentCOL7A10.24
962Heart, malformation ofEnrichmentARF30.24
963Pontocerebellar hypoplasiaEnrichmentVPS530.24
964Autosomal recessive nonsyndromic deafnessEnrichmentGJB2, GOSR2, MYH90.24
965Arteriovenous malformations of the brainEnrichmentEGFR0.22
966Autosomal recessive limb-girdle muscular dystrophyEnrichmentTRAPPC110.22
967Hypertrophic cardiomyopathyEnrichmentKIF5B, PRKAG20.22
968Williams-beuren syndromeEnrichmentVPS37D0.21
969Macs syndromeEnrichmentRIN20.21
970Maturity-onset diabetes of the youngEnrichmentINS0.21
971LeukodystrophyEnrichmentRAB33A0.21
972Hereditary breast carcinomaEnrichmentAKT1, DCTN50.21
973Centronuclear myopathyEnrichmentDNM20.20
974HepatoblastomaEnrichmentCOL7A10.20
975Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentKIF1B0.20
976Focal segmental glomerulosclerosisEnrichmentAPOL10.19
977Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A10.19
978Hepatocellular carcinomaEnrichmentIGF2R0.19
979Attention deficit-hyperactivity disorderEnrichmentKIF5B0.19
980MicrophthalmiaEnrichmentGJA80.19
981Tooth agenesisEnrichmentTGFA0.19
982Skin diseaseEnrichmentCOL7A10.19
983Precursor t-cell acute lymphoblastic leukemiaEnrichmentPICALM0.18
984Familial atrial fibrillationEnrichmentGJA50.17
985ScoliosisEnrichmentARF30.17
986Muscular dystrophyEnrichmentTRAPPC110.17
987Tetralogy of fallotEnrichmentGJA50.15
988RasopathyEnrichmentCBL0.15
989Hereditary breast ovarian cancer syndromeEnrichmentDCTN5, RINT10.13
990Hirschsprung disease 1EnrichmentDENND30.12
991Meckel syndrome, type 1EnrichmentEXOC40.12
992Prostate cancerEnrichmentMSR10.11
993Colorectal cancerEnrichmentAKT1, DCTN5, SRC0.11
994Lung cancerEnrichmentEGFR0.11
995Familial hypertrophic cardiomyopathyEnrichmentPRKAG20.10
996Male infertilityEnrichmentCFTR0.09
997Eye diseaseEnrichmentCHM0.09
998Distal arthrogryposisEnrichmentBICD20.06
999Bardet-biedl syndromeEnrichmentTRAPPC30.06
1000Inherited cancer-predisposing syndromeEnrichmentDCTN5, EGFR, TSC1, TSC20.06
1001Nephrotic syndromeEnrichmentTBC1D8B0.06
1002Optic atrophy plus syndromeEnrichmentTUBB60.06
1003Body mass index quantitative trait locus 11EnrichmentMYH90.04
1004HypertelorismEnrichmentCOL1A10.03
1005Myeloma, multipleEnrichmentIL7R0.03
1006Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.03
1007Leber plus diseaseEnrichmentNBAS, TUBB4B0.03
1008SchizophreniaEnrichmentTRAPPC90.03
1009Primary ovarian insufficiencyEnrichmentIGF2R0.03
1010AutismEnrichmentARF30.01
1011Dilated cardiomyopathyEnrichmentKIF5B0.01
1012Hereditary retinal dystrophyEnrichmentCHM, FTH1, FZD4, KIF11, LRP2, NBAS0.00
1013Fundus dystrophyEnrichmentCHM, FTH1, FZD4, KIF11, LRP2, NBAS0.00
1014Retinitis pigmentosaEnrichmentCHM, KIF110.00