Cell Cycle, Mitotic

Pathway network for the Cell Cycle, Mitotic SuperPath

Sources:
  • Reactome

Pathways in the Cell Cycle, Mitotic SuperPath

#NameSourceGenes
1Cell Cycle, MitoticReactome
(see all 554) (see less)
2Cell CycleReactome
(see all 684) (see less)
3M PhaseReactome
(see all 406) (see less)

Gene overlap in member pathways for Cell Cycle, Mitotic SuperPath

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

Disorders associated with Cell Cycle, Mitotic SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Seckel syndromeEnrichmentATR, ATRIP, CENPE, CEP152, CPAP, DNA2, NUP85, PCNT, PLK4, PRIM1, RBBP810.73
2LissencephalyEnrichmentCPAP, DYNC1H1, MZT2B, PAFAH1B1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3, TUBG19.88
3Primary autosomal recessive microcephalyEnrichmentANKLE2, CDK5RAP2, CDK6, CENPE, CEP135, CEP152, CEP63, CPAP, KNL1, MCM7, MCPH1, NCAPD3, NUP379.78
4Dyskeratosis congenitaEnrichmentCTC1, DKC1, NHP2, NOP10, NPM1, POT1, RTEL1, TERT, TINF2, TYMS, WRAP539.55
5Meier-gorlin syndrome 1EnrichmentCDC45, CDC6, CDT1, GMNN, MCM7, ORC1, ORC4, ORC69.47
6Breast cancerEnrichmentABRAXAS1, AKT1, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDKN2B, CHEK2, CKS1B, HMMR, MLH1, MRE11, NBN, RAD50, RAD51, RAD51C, TP538.45
7Endometrial cancerEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, CHEK2, DHFR, MLH1, MLH3, RAD51C7.67
8Inherited cancer-predisposing syndromeEnrichmentABRAXAS1, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDK4, CDKN1B, CDKN2A, CHEK2, DHFR, MAX, MLH1, MRE11, NBN, POLD1, POLE, POT1, RAD50, RAD51C, RB1, TP53, WRAP537.42
9Colorectal cancerEnrichmentAKT1, ATM, AURKA, BLM, BRCA1, BRCA2, BRIP1, BUB1, BUB1B, CCND1, CHEK2, EP300, MLH1, MLH3, POLD1, POLE, RMI1, SRC, TP537.32
10Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, NBN, RAD50, RAD51, RAD51C, TP53, VRK17.27
11Ovarian cancerEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, BUB1B, CDKN1B, CDKN2A, CHEK2, HMMR, MLH3, MRE11, NBN, RAD50, RAD51C, RB1, TP53, WRN6.92
12Hereditary breast carcinomaEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, NBN, RAD50, RAD51, TP536.83
13Pancreatic cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, CDKN2A, CHEK2, NBN, POLD1, RBBP8, TP536.79
14MicrocephalyEnrichmentABL1, ANKLE2, ATRX, CDK5RAP2, CPAP, DYNC1H1, DYRK1A, EP300, HDAC8, KIF23, LEMD2, MAPK1, MCM7, NBN, NIPBL, NUF2, NUP188, PSMC3, SMARCA5, SMC1A, TUBB4A, YWHAG6.72
15Gastric cancerEnrichmentATM, BARD1, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CHEK2, MLH1, NBN, RAD51C, TP536.05
16Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, BRCA2, BRIP1, CHEK2, NBN, RAD51C5.98
17Mosaic variegated aneuploidy syndromeEnrichmentBUB1, BUB1B, BUB3, CEP57, MAD1L15.91
18Li-fraumeni syndromeEnrichmentCDKN2A, CHEK2, MDM2, TP53, WRAP535.73
19Hoyeraal-hreidarsson syndromeEnrichmentACD, DKC1, RTEL1, TERT, TINF25.73
20Cornelia de lange syndrome 1EnrichmentHDAC8, NIPBL, RAD21, SMC1A, SMC35.57
21Cornelia de lange syndromeEnrichmentHDAC8, NIPBL, RAD21, SMC1A, SMC35.57
22Uterine corpus cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, CHEK2, RAD51C5.22
23Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentPLK4, TP53BP1, TUBGCP4, TUBGCP65.19
24Melanoma, cutaneous malignant 1EnrichmentACD, CDK4, CDKN2A, CDKN2B, POT1, TERF2IP, TERT5.00
25Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C94.57
26Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB34.57
27Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP934.26
28Bladder cancerEnrichmentATM, BRCA1, BRCA2, CDKN1A, CDKN2A, RB1, TERT, TP534.17
29Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B, CDKN2B, CDKN2C4.06
30TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B3.98
31Familial colorectal cancer type xEnrichmentATM, BRCA2, CHEK2, POLD1, POLE3.94
32Osteogenic sarcomaEnrichmentCHEK2, RB1, TP533.89
33Bone osteosarcomaEnrichmentCHEK2, RB1, TP533.89
34Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B, CEP57, MAD1L13.59
35EnophthalmosEnrichmentCSNK2B, DYRK1A, MCM73.58
36Prostate cancerEnrichmentATM, BRCA1, BRCA2, CHEK2, MAD1L1, NBN, TP533.32
37PolymicrogyriaEnrichmentAKT3, DYNC1H1, OFD1, PSMC33.32
38Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB33.30
39Colonic benign neoplasmEnrichmentATM, CHEK2, MLH1, MRE113.18
40Primary ovarian insufficiencyEnrichmentCHEK2, JAK2, MLH3, MND1, MSH4, NBN, RAD51C, REC8, SGO2, STAG33.18
41Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C33.05
42Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C113.05
43Keratoconus 9EnrichmentMZT2A, TUBA3D3.05
44Lissencephaly 3EnrichmentCPAP, TUBA1A3.05
45Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.05
46Lip and oral cavity carcinomaEnrichmentABL1, CDKN2A, RB1, TP532.98
47Leukemia, chronic lymphocyticEnrichmentATM, CCND1, POT1, TP532.98
48Isolated congenital microcephalyEnrichmentCPAP, MCPH1, MZT2B, TUBA3E2.97
49Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentCDKN1C, POLE2.78
50Senior-loken syndrome 7EnrichmentAKT3, SDCCAG82.78
51Bardet-biedl syndrome 16EnrichmentAKT3, SDCCAG82.78
52Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, CDKN2A, MYC, NUP214, SET2.69
53B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, CDKN2A, TP532.68
54Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA, SYNE1, SYNE22.64
55Adrenocortical carcinomaEnrichmentCDKN2A, TERT, TP532.64
56MacroglossiaEnrichmentNSD2, TAOK12.60
57Diffuse midline glioma, h3 k27m-mutantEnrichmentBRCA2, BRIP12.60
58Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTP53BP1, TUBGCP42.60
59Li-fraumeni syndrome 1EnrichmentCHEK2, TP532.60
60SarcomaEnrichmentCHEK2, TP532.60
61Microcephaly, growth restriction, and increased sister chromatid exchange 2EnrichmentRMI2, TOP3A2.60
62Inflammatory breast carcinomaEnrichmentBRCA1, BRCA22.60
63Bilateral breast cancerEnrichmentBRCA1, BRCA22.60
64Microcephaly and chorioretinopathy 3EnrichmentTP53BP1, TUBGCP42.60
65Seckel syndrome 5EnrichmentCEP152, CPAP2.58
66Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B1, YWHAE2.58
67Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B1, YWHAE2.58
68Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C52.58
69Premature menopauseEnrichmentMSH4, NBN, REC8, STAG32.50
70Glioma susceptibility 1EnrichmentH3-3A, H3C1, TP532.49
71Squamous cell carcinomaEnrichmentRB1, TP532.31
72Polymerase proofreading-related polyposisEnrichmentPOLD1, POLE2.31
73Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD, LMNA2.29
74Emery-dreifuss muscular dystrophyEnrichmentEMD, LMNA2.29
75Familial infantile bilateral striatal necrosisEnrichmentNUP54, NUP622.29
76Senior-loken syndrome 1EnrichmentCEP164, CEP290, SDCCAG82.22
77Myeloma, multipleEnrichmentATM, AURKA, BARD1, BRCA2, CCND1, CDKN2C, H3C1, TP532.18
78Polycythemia veraEnrichmentATM, JAK22.13
79Dyskeratosis congenita, x-linkedEnrichmentDKC1, RTEL12.13
80Dedifferentiated liposarcomaEnrichmentCDK4, MDM22.13
81Cerebroretinal microangiopathy with calcifications and cysts 1EnrichmentCTC1, STN12.13
82Atypical teratoid rhabdoid tumorEnrichmentATRX, TP532.13
83Anaplastic astrocytomaEnrichmentATRX, TP532.13
84AdenocarcinomaEnrichmentATM, TP532.13
85Well-differentiated liposarcomaEnrichmentCDK4, MDM22.13
86Cataract 6, multiple typesEnrichmentCHMP4B, LEMD22.07
87Microcephaly 1, primary, autosomal recessiveEnrichmentCPAP, MCPH12.07
88Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B1, TUBG12.07
89Spinal muscular atrophyEnrichmentDYNC1H1, VRK12.07
90Small cell cancer of the lungEnrichmentRB1, TP532.02
91Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND22.02
92Lynch syndrome 1EnrichmentATM, CHEK2, MLH11.93
93Wiedemann-steiner syndromeEnrichmentSMC1A, SMC31.91
94Diffuse large b-cell lymphomaEnrichmentBRCA2, CHEK2, NBN, TP531.87
95Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA1, BRCA21.85
96CholangiocarcinomaEnrichmentBRCA1, BRCA21.85
97Mantle cell lymphomaEnrichmentATM, CCND11.85
98Lung sarcomatoid carcinomaEnrichmentTERT, TP531.85
99Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD501.85
100Leukemia, acute myeloidEnrichmentJAK2, NPM1, NUP214, RTEL1, TERT, TP531.85
101Neuromuscular diseaseEnrichmentEMD, GOLGA2, LMNA1.81
102AzoospermiaEnrichmentDMC1, MCM8, MSH5, REC81.79
103Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B1.77
104HepatoblastomaEnrichmentBARD1, BRCA2, TERT, TP531.71
10546 xx gonadal dysgenesisEnrichmentMSH4, NUP107, PSMC3IP1.70
106Spastic paraplegia 4, autosomal dominantEnrichmentOFD1, SPAST1.65
107Fanconi anemia, complementation group cEnrichmentHDAC8, TAOK11.65
108CryptorchidismEnrichmentNIPBL, TUBA1A1.65
109Breast adenocarcinomaEnrichmentAKT1, TP531.65
110Hepatocellular carcinomaEnrichmentNBN, RAD50, TERT, TP531.64
111Breast-ovarian cancer, familial 2EnrichmentBRCA1, BRCA21.64
112Cryptorchidism, unilateral or bilateralEnrichmentNIPBL, TUBA1A1.55
113Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B1.55
114Fanconi anemia, complementation group aEnrichmentBRCA1, BRCA2, BRIP1, RAD51, RAD51C1.53
115Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB11.52
116Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB1.52
117Perry syndromeEnrichmentDCTN11.52
118Buschke-ollendorff syndromeEnrichmentLEMD31.52
119Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A1.52
120Intellectual developmental disorder, x-linked, syndromic, siderius typeEnrichmentPHF81.52
121Retinitis pigmentosa 23EnrichmentOFD11.52
122Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.52
123Simpson-golabi-behmel syndrome, type 2EnrichmentOFD11.52
124Holoprosencephaly 13, x-linkedEnrichmentSTAG21.52
125Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC31.52
126Microcephaly 3, primary, autosomal recessiveEnrichmentCDK5RAP21.52
127Cataract 31, multiple typesEnrichmentCHMP4B1.52
128Microcephaly 9, primary, autosomal recessiveEnrichmentCEP1521.52
129Microcephaly and chorioretinopathy, autosomal recessive, 2EnrichmentPLK41.52
130Microcephaly 8, primary, autosomal recessiveEnrichmentCEP1351.52
131Teeth, supernumeraryEnrichmentLEMD21.52
132Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB1.52
133Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.52
134Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.52
135Arthrogryposis, perthes disease, and upward gaze palsyEnrichmentNEK91.52
136Nevus comedonicusEnrichmentNEK91.52
137Cone-rod dystrophy and hearing loss 1EnrichmentCEP781.52
138Greenberg dysplasiaEnrichmentLBR1.52
139Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A1.52
140Pelger-huet anomalyEnrichmentLBR1.52
141Premature chromatid separation traitEnrichmentBUB1B1.52
142Microcephaly 16, primary, autosomal recessiveEnrichmentANKLE21.52
143Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD211.52
144Microcephalic osteodysplastic primordial dwarfism, type iiEnrichmentPCNT1.52
145Fetal akinesia deformation sequence 4EnrichmentNUP881.52
146Khan-khan-katsanis syndromeEnrichmentNCAPG21.52
147Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC11.52
148Developmental delay with or without intellectual impairment or behavioral abnormalitiesEnrichmentTAOK11.52
149Atrial fibrillation, familial, 15EnrichmentNUP1551.52
150Noonan syndrome 13EnrichmentMAPK11.52
151Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.52
152Cardiomyopathy, familial restrictive, 6EnrichmentKIF20A1.52
153Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.52
154Rhizomelic skeletal dysplasia with or without pelger-huet anomalyEnrichmentLBR1.52
155Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP541.52
156Nephrotic syndrome, type 19EnrichmentNUP1601.52
157Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC201.52
158Cornelia de lange syndrome 5EnrichmentHDAC81.52
159Mullegama-klein-martinez syndromeEnrichmentSTAG21.52
160Houge-janssens syndrome 4EnrichmentPPP2R5C1.52
161Orofacial cleft 10EnrichmentSUMO11.52
162Stankiewicz-isidor syndromeEnrichmentPSMD121.52
163Galloway-mowat syndrome 8EnrichmentNUP1331.52
164Syndromic x-linked intellectual disability siderius typeEnrichmentPHF81.52
165Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.52
166Marbach-rustad progeroid syndromeEnrichmentLEMD21.52
167Adult onset demyelinating leukodystrophyEnrichmentLMNB11.52
168Nephrotic syndrome, type 13EnrichmentNUP2051.52
169Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC71.52
170Houge-janssens syndrome 2EnrichmentPPP2R1A1.52
171Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.52
172Long qt syndrome 11EnrichmentAKAP91.52
173Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG11.52
174Microcephaly 4, primary, autosomal recessiveEnrichmentKNL11.52
175Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.52
176MicrohydranencephalyEnrichmentNDE11.52
177Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN11.52
178Galloway-mowat syndrome 7EnrichmentNUP1071.52
179Rothmund-thomson syndrome, type 1EnrichmentANAPC11.52
180Majeed syndromeEnrichmentLPIN21.52
181Mungan syndromeEnrichmentRAD211.52
182Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.52
183Joubert syndrome 15EnrichmentCEP411.52
184Developmental delay with hypotonia, myopathy, and brain abnormalitiesEnrichmentGOLGA21.52
185Nephronophthisis 15EnrichmentCEP1641.52
186Nestor-guillermo progeria syndromeEnrichmentBANF11.52
187Lissencephaly 4 with microcephalyEnrichmentNDE11.52
188Nephrotic syndrome, type 12EnrichmentNUP931.52
189Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.52
190Microcephaly 26, primary, autosomal dominantEnrichmentLMNB11.52
191Retinitis pigmentosa 67EnrichmentNEK21.52
192Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.52
193Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.52
194Seckel syndrome 6EnrichmentCEP631.52
195Microcephaly and chorioretinopathy 2EnrichmentPLK41.52
196Reynolds syndromeEnrichmentLBR1.52
197Meckel syndrome, type 10EnrichmentB9D21.52
198Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.52
199Nephrotic syndrome, type 11EnrichmentNUP1071.52
200Lethal congenital contracture syndrome 10EnrichmentNEK91.52
201Dync1h1-related disordersEnrichmentDYNC1H11.52
202Cardioacrofacial dysplasia 1EnrichmentPRKACA1.52
203Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE1.52
204Encephalopathy, acute, infection-induced 9EnrichmentNUP2141.52
205Atypical werner syndromeEnrichmentLMNA1.52
206Xq25 microduplication syndromeEnrichmentSTAG21.52
207Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.52
208Sandestig-stefanova syndromeEnrichmentNUP1881.52
209Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.52
210Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.52
211Microcephaly 22, primary, autosomal recessiveEnrichmentNCAPD31.52
212Microcephaly 23, primary, autosomal recessiveEnrichmentNCAPH1.52
213Ovarian dysgenesis 6EnrichmentNUP1071.52
214Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR1.52
215Short stature and microcephaly with genital anomaliesEnrichmentCENPT1.52
216Nephrotic syndrome, type 18EnrichmentNUP1331.52
217Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I21.52
218Neuronopathy, distal hereditary motor, autosomal recessive 10EnrichmentVRK11.52
219HydranencephalyEnrichmentNDE11.52
220Melorheostosis with osteopoikilosisEnrichmentLEMD31.52
221Trilateral retinoblastomaEnrichmentRB11.52
222Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.52
223Microcephaly 30, primary, autosomal recessiveEnrichmentBUB11.52
224Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.52
225Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L11.52
226Nde1-related microhydranencephalyEnrichmentNDE11.52
227Congenital myopathy 26EnrichmentTUBA4A1.52
228Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.52
229Mandibuloacral dysplasiaEnrichmentLMNA1.52
230Atrioventricular blockEnrichmentLMNA1.52
231Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.52
232Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.52
233Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.52
234Infection-induced acute-onset axonal neuropathyEnrichmentRCC11.52
235Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA1.52
236Familial acute necrotizing encephalopathyEnrichmentRANBP21.52
237Isolated osteopoikilosisEnrichmentLEMD31.52
238Lissencephaly due to lis1 mutationEnrichmentPAFAH1B11.52
239Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.52
240Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA1.52
241Microcephaly-complex motor and sensory axonal neuropathy syndromeEnrichmentVRK11.52
242Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.52
243Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA1.52
244LaminopathyEnrichmentLMNA1.52
245Lung oat cell carcinomaEnrichmentRB11.52
246MyelofibrosisEnrichmentJAK2, SRC1.52
247Essential thrombocythemiaEnrichmentJAK2, TP531.52
248Moyamoya angiopathyEnrichmentABL1, CEP781.52
249Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT, TINF21.48
250Pulmonary fibrosisEnrichmentRTEL1, TERT1.48
251Kidney clear cell sarcomaEnrichmentTERT, YWHAE1.48
252Galloway-mowat syndromeEnrichmentNUP107, NUP1331.46
253Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB11.46
254Isolated split hand-split foot malformationEnrichmentBTRC, SEM11.40
255Congenital nervous system abnormalityEnrichmentAAAS, CEP290, DYNC1H1, MCPH1, SMC1A, TUBA1A, TUBB4A1.40
256Nervous system diseaseEnrichmentAAAS, CEP290, DYNC1H1, MCPH1, SMC1A, TUBA1A, TUBB4A1.40
257Proteus syndromeEnrichmentAKT11.39
258Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.39
259Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual developmentEnrichmentPOLE1.39
260Van esch-o'driscoll syndromeEnrichmentPOLA11.39
261Roberts-sc phocomelia syndromeEnrichmentESCO21.39
262Melanoma, cutaneous malignant 3EnrichmentCDK41.39
263Deafness, autosomal recessive 32, with or without immotile spermEnrichmentCDC14A1.39
264Colorectal cancer 10EnrichmentPOLD11.39
265Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.39
266Lactose intolerance, adult typeEnrichmentMCM61.39
267Microcephaly 12, primary, autosomal recessiveEnrichmentCDK61.39
268Meier-gorlin syndrome 3EnrichmentORC61.39
269Seckel syndrome 8EnrichmentDNA21.39
270Meier-gorlin syndrome 2EnrichmentORC41.39
271Intellectual developmental disorder, autosomal dominant 7EnrichmentDYRK1A1.39
272Juberg-hayward syndromeEnrichmentESCO21.39
273Colorectal cancer 12EnrichmentPOLE1.39
274Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA11.39
275Immunodeficiency 80 with or without congenital cardiomyopathyEnrichmentMCM101.39
276Brunet-wagner neurodevelopmental syndromeEnrichmentRBL21.39
277Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA11.39
278Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW111.39
279Bone marrow failure syndrome 5EnrichmentTP531.39
280Immunodeficiency 120EnrichmentPOLD11.39
281Meier-gorlin syndrome 4EnrichmentCDT11.39
282Papilloma of choroid plexusEnrichmentTP531.39
283AnisometropiaEnrichmentMCM71.39
284Basal cell carcinoma 7EnrichmentTP531.39
285Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6EnrichmentDNA21.39
286Anaplastic thyroid carcinomaEnrichmentTP531.39
287Developmental and epileptic encephalopathy 109EnrichmentFZR11.39
288Immunodeficiency 54EnrichmentMCM41.39
289Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.39
290Deafness, autosomal dominant 70EnrichmentMCM21.39
291Meier-gorlin syndrome 8EnrichmentMCM51.39
292Neuroendocrine tumorEnrichmentCDKN1B1.39
293Premature ovarian failure 10EnrichmentMCM81.39
294Polydactyly-macrocephaly syndromeEnrichmentMAX1.39
295Cowden syndrome 6EnrichmentAKT11.39
296Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeEnrichmentPOLD11.39
297Ataxia-telangiectasia-like disorder 2EnrichmentPCNA1.39
298Immunodeficiency 96EnrichmentLIG11.39
299Megaloblastic anemia due to dihydrofolate reductase deficiencyEnrichmentDHFR1.39
300Ductal carcinoma in situEnrichmentTP531.39
301Meier-gorlin syndrome 5EnrichmentCDC61.39
302Thrombocytopenia 6EnrichmentSRC1.39
303Meier-gorlin syndrome 6EnrichmentGMNN1.39
304Meier-gorlin syndrome 7EnrichmentCDC451.39
305Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.39
306Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.39
307Autosomal recessive nonsyndromic deafness 32EnrichmentCDC14A1.39
308Thyroid gland undifferentiated carcinomaEnrichmentTP531.39
309Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.39
310Cdkn2a cancer predispositionEnrichmentCDKN2A1.39
311Rothmund-thomson syndrome, type 4EnrichmentDNA21.39
312Capillary hemangiomaEnrichmentAKT31.39
313Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.39
314Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC41.39
315Immunodeficiency 122EnrichmentPOLD31.39
316Choroid plexus cancerEnrichmentTP531.39
317Pleomorphic xanthoastrocytomaEnrichmentTP531.39
318Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeEnrichmentCDKN1C1.39
319Akt2-related familial partial lipodystrophyEnrichmentAKT21.39
320Specific learning disabilityEnrichmentMAPK1, YWHAG1.39
321RhabdomyosarcomaEnrichmentBRCA1, BRCA2, TP531.36
322Cerebral palsyEnrichmentBRCA2, SPAST, SYNE2, TUBA1A, TUBB4A1.35
323Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT, TINF21.35
324Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.30
325Bloom syndromeEnrichmentBLM1.30
326Spermatogenic failure, x-linked, 9EnrichmentRBBP71.30
327Seckel syndrome 2EnrichmentRBBP81.30
328Fanconi anemia, complementation group jEnrichmentBRIP11.30
329Spermatogenic failure 2EnrichmentMSH41.30
330Glioma susceptibility 3EnrichmentBRCA21.30
331Seckel syndrome 1EnrichmentATR1.30
332Dyskeratosis congenita, autosomal recessive 1EnrichmentNOP101.30
333Mirror movements 2EnrichmentRAD511.30
334Dyskeratosis congenita, autosomal recessive 3EnrichmentWRAP531.30
335Colorectal cancer, hereditary nonpolyposis, type 7EnrichmentMLH31.30
336Accelerated tumor formationEnrichmentMDM21.30
337Tumor predisposition syndrome 3EnrichmentPOT11.30
338Fanconi anemia, complementation group rEnrichmentRAD511.30
339Neurodevelopmental disorder with dystonia and seizuresEnrichmentSHQ11.30
340Intellectual disability-hypotonic facies syndrome, x-linked, 1EnrichmentATRX1.30
341Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8EnrichmentPOT11.30
342Lessel-kubisch syndromeEnrichmentMDM21.30
343Bone marrow failure syndrome 6EnrichmentMDM41.30
344Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2EnrichmentNOP101.30
345Lynch syndrome 2EnrichmentMLH11.30
346Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1EnrichmentDKC11.30
347Infant-type hemispheric gliomaEnrichmentBRCA11.30
348Pancreatic cancer 2EnrichmentBRCA21.30
349Spermatogenic failure 15EnrichmentSYCE11.30
350Jawad syndromeEnrichmentRBBP81.30
351Premature ovarian failure 20EnrichmentMSH41.30
352Tumor predisposition syndrome 4EnrichmentCHEK21.30
353Premature ovarian failure 8EnrichmentSTAG31.30
354Riddle syndromeEnrichmentRNF1681.30
355Ataxia-telangiectasia-like disorder 1EnrichmentMRE111.30
356High-grade astrocytoma with piloid featuresEnrichmentPOT11.30
357Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR1.30
358Emery-dreifuss muscular dystrophy 5, autosomal dominantEnrichmentSYNE21.30
359Intellectual developmental disorder, autosomal recessive 38EnrichmentHERC21.30
360Cerebroretinal microangiopathy with calcifications and cysts 3EnrichmentPOT11.30
361Endometrial serous adenocarcinomaEnrichmentATM1.30
362Premature ovarian failure 12EnrichmentSYCE11.30
363Autosomal recessive myogenic arthrogryposis multiplex congenitaEnrichmentSYNE11.30
364Spermatogenic failure 61EnrichmentSTAG31.30
365Cerebroretinal microangiopathy with calcifications and cysts 2EnrichmentSTN11.30
366Spermatogenic failure 77EnrichmentFKBP61.30
367Rauch-steindl syndromeEnrichmentNSD21.30
368LeiomyosarcomaEnrichmentCHEK21.30
369Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9EnrichmentNOP101.30
370Autosomal recessive dyskeratosis congenita 4EnrichmentTERT1.30
371Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5EnrichmentTOP3A1.30
372Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeEnrichmentBRCC31.30
373Dystonia 35, childhood-onsetEnrichmentSHQ11.30
374Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK11.30
375Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.30
376Gastric neuroendocrine neoplasmEnrichmentATRX1.30
377B-cell non-hodgkin lymphomaEnrichmentATM1.30
378Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.30
379Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR1.30
380Primary peritoneal carcinomaEnrichmentBRCA11.30
381Interstitial lung disease 2EnrichmentRTEL1, STN1, TERT1.29
382Isolated growth hormone deficiency, type iaEnrichmentBRCA2, DNA21.24
383Aortic aneurysm, familial thoracic 4EnrichmentNDE11.23
384Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.23
385Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.23
386Anemia, congenital dyserythropoietic, type iiiaEnrichmentKIF231.23
387Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP11.23
388Stromme syndromeEnrichmentCENPF1.23
389Lowry-wood syndromeEnrichmentCLASP11.23
390Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentTUBGCP61.23
391Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathyEnrichmentLEMD21.23
392Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.23
393Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR1.23
394Spondyloepiphyseal dysplasia tarda, x-linkedEnrichmentOFD11.23
395Striatonigral degeneration, infantileEnrichmentNUP621.23
396Cornelia de lange syndrome 2EnrichmentSMC1A1.23
397Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD1.23
398Orofaciodigital syndrome iEnrichmentOFD11.23
399Nephronophthisis-like nephropathy 1EnrichmentRANGAP11.23
400Microcephaly 6, primary, autosomal recessiveEnrichmentCPAP1.23
401Heart-hand syndrome, slovenian typeEnrichmentLMNA1.23
402Pontocerebellar hypoplasia, type 1aEnrichmentVRK11.23
403Seckel syndrome 4EnrichmentCPAP1.23
404Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.23
405Lissencephaly 1EnrichmentPAFAH1B11.23
406Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.23
407Chromosome 13q14 deletion syndromeEnrichmentRB11.23
408Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.23
409Mosaic variegated aneuploidy syndrome 2EnrichmentCEP571.23
410Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.23
411Syndactyly, type iiiEnrichmentHDAC81.23
412Houge-janssens syndrome 1EnrichmentPPP2R5D1.23
413Roifman syndromeEnrichmentCLASP11.23
414Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.23
415Cone-rod dystrophy and hearing loss 2EnrichmentCEP2501.23
416Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentNDE11.23
417Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG11.23
418Cardiomyopathy, dilated, 1dEnrichmentLMNA1.23
419Restrictive dermopathy 2EnrichmentLMNA1.23
420Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.23
421Joubert syndrome 10EnrichmentOFD11.23
422Birk-aharoni syndromeEnrichmentPSMC11.23
423Microcephaly 21, primary, autosomal recessiveEnrichmentNCAPD21.23
424Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.23
425Nephrotic syndrome, type 17EnrichmentNUP851.23
426Cortical dysplasia, complex, with other brain malformations 15EnrichmentTUBGCP21.23
427Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentTAOK11.23
428Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.23
429Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.23
430Myopia 6EnrichmentNCAPH21.23
431Wilson-turner syndromeEnrichmentHDAC81.23
432Microcephaly and chorioretinopathy 1EnrichmentTUBGCP61.23
433Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.23
434Spondyloepiphyseal dysplasia tardaEnrichmentOFD11.23
435Cataract 46 juvenile-onsetEnrichmentLEMD21.23
436Lipodystrophy, familial partial, type 1EnrichmentLMNA1.23
437Body mass index quantitative trait locus 19EnrichmentCENPO1.23
438OsteopoikilosisEnrichmentLEMD31.23
439Fibrolamellar carcinomaEnrichmentPRKACA1.23
440Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.23
441Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.23
442Chromosome 5p13 duplication syndromeEnrichmentNIPBL1.23
443Cimdag syndromeEnrichmentVPS4A1.23
444Autosomal dominant primary microcephalyEnrichmentLMNB11.23
445Visceral myopathy 2EnrichmentNDE11.23
446Degenerative disc diseaseEnrichmentCENPP1.23
447Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.23
448Rnu4atac-opathyEnrichmentCLASP11.23
449Chronic atrial and intestinal dysrhythmiaEnrichmentSGO11.23
45017q24.2 microdeletion syndromeEnrichmentPSMD121.23
451Diamond-blackfan anemia 17EnrichmentRPS271.23
452Torsion dystonia 4EnrichmentTUBB4A1.23
453Congenital pontocerebellar hypoplasia type 1EnrichmentVRK11.23
454Lymphatic malformation 10EnrichmentMCPH11.23
455Houge-janssens syndrome 3EnrichmentPPP2CA1.23
456Multiple benign circumferential skin creases on limbsEnrichmentTUBB1.23
457Intellectual developmental disorder, autosomal dominant 58EnrichmentSET1.23
458Distal hereditary motor neuropathy type 7EnrichmentDCTN11.23
459Familial partial lipodystrophyEnrichmentLMNA1.23
46012q14 microdeletion syndromeEnrichmentLEMD31.23
461Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2141.23
462Primary mediastinal large b-cell lymphomaEnrichmentXPO11.23
463Familial retinoblastomaEnrichmentRB11.23
464Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.23
465Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.23
466Continuous spikes and waves during sleepEnrichmentTUBA1A1.23
467X-linked emery-dreifuss muscular dystrophyEnrichmentEMD1.23
468Submucosal cleft palateEnrichmentUBB1.23
469Cleft hard palateEnrichmentUBB1.23
470Isolated joubert syndromeEnrichmentB9D2, CEP41, OFD11.23
471Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B, DYNC1H1, SET, TAOK11.21
472Esophageal atresia/tracheoesophageal fistulaEnrichmentBRCA2, BRIP1, POLR2B1.17
473Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRCA2, BRIP11.14
474Primary hyperaldosteronismEnrichmentATRX, TP531.14
475Juvenile amyotrophic lateral sclerosisEnrichmentSYNE1, VRK11.14
476Corpus callosum, agenesis ofEnrichmentCDK5RAP2, TUBA1A1.14
477Isolated corpus callosum agenesisEnrichmentCDK5RAP2, TUBA1A1.14
478Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDK5RAP2, TUBA1A1.14
479Lung cancerEnrichmentBRCA1, CHEK2, MLH1, PPP2R1B1.12
480Williams-beuren syndromeEnrichmentCDKN1C, FKBP6, RFC21.11
481Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.10
482Burkitt lymphomaEnrichmentMYC1.10
483Adrenocortical carcinoma, hereditaryEnrichmentTP531.10
484Cervical cancerEnrichmentTP531.10
485Rothmund-thomson syndrome, type 2EnrichmentDNA21.10
486Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.10
487Lymphoma, hodgkin, classicEnrichmentTP531.10
488Thrombocythemia 3EnrichmentJAK21.10
489Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.10
490Cerebellar ataxia, neuropathy, and vestibular areflexia syndromeEnrichmentRFC11.10
491Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.10
492Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.10
493Immunodeficiency 55EnrichmentGINS11.10
494Menke-hennekam syndrome 2EnrichmentEP3001.10
495Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyEnrichmentPOLE1.10
496Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.10
497Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.10
498Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM11.10
499Congenital fibrosarcomaEnrichmentTP531.10
500Amyotrophic lateral sclerosis 12 with or without frontotemporal dementiaEnrichmentOPTN1.10
501Facial dysmorphism, immunodeficiency, livedo, and short statureEnrichmentPOLE1.10
502Cervix carcinomaEnrichmentTP531.10
503Hodgkin's lymphomaEnrichmentTP531.10
504Amyotrophic lateral sclerosis type 12EnrichmentOPTN1.10
505PolycythemiaEnrichmentJAK21.10
506Dyskeratosis congenita, digenicEnrichmentTYMS1.10
507Hypereosinophilic syndromeEnrichmentJAK21.10
508Pleomorphic rhabdomyosarcomaEnrichmentTP531.10
509Hydrocephalus, congenital, 1EnrichmentOFD1, TUBB1.09
510Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.06
511Prognathism, mandibularEnrichmentCSNK2B1.06
512RetinoblastomaEnrichmentRB11.06
513Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP11.06
514Alstrom syndromeEnrichmentALMS11.06
515Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.06
516Uvula, bifidEnrichmentUBB1.06
517Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT1.06
518Simpson-golabi-behmel syndrome, type 1EnrichmentOFD11.06
519Band heterotopiaEnrichmentPAFAH1B11.06
520Restrictive dermopathy 1EnrichmentLMNA1.06
521Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN11.06
522Mitochondrial complex iv deficiency, nuclear type 2EnrichmentNCAPH21.06
523Spastic paraplegia 2, x-linkedEnrichmentSPAST1.06
524Senior-loken syndrome 6EnrichmentCEP2901.06
525Cleft soft palateEnrichmentUBB1.06
526Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.06
527Joubert syndrome 5EnrichmentCEP2901.06
528Meckel syndrome, type 6EnrichmentCEP2901.06
529Lipodystrophy, familial partial, type 2EnrichmentLMNA1.06
530Woolly hair, autosomal recessive 3EnrichmentRB11.06
531Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.06
532Myopathy, myofibrillar, 7EnrichmentCEP631.06
533Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.06
534Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.06
535Pontocerebellar hypoplasia, type 1bEnrichmentVRK11.06
536Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.06
537Hypotrichosis 8EnrichmentRB11.06
538Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.06
539End stage renal diseaseEnrichmentALMS11.06
540Restrictive dermopathyEnrichmentLMNA1.06
541Cog7-congenital disorder of glycosylationEnrichmentCEP2901.06
542Occipital encephaloceleEnrichmentCEP2901.06
543Advanced sleep phase syndromeEnrichmentCSNK1D1.06
544Tricuspid valve insufficiencyEnrichmentNDE11.06
545Thyroid hemiagenesisEnrichmentPSMD31.06
546Aplastic anemiaEnrichmentNBN, TERT1.06
547MelanomaEnrichmentCDKN2A, CHEK21.06
548Familial colorectal cancerEnrichmentMLH1, TP531.06
549Isolated tracheo-esophageal fistulaEnrichmentBRCA2, BRIP11.06
550Muir-torre syndromeEnrichmentMLH11.01
551Skin/hair/eye pigmentation, variation in, 1EnrichmentHERC21.01
552Revesz syndromeEnrichmentTINF21.01
553Spermatogenic failure 4EnrichmentSYCP31.01
554Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphismEnrichmentBRCC31.01
555Alpha-thalassemia myelodysplasia syndromeEnrichmentATRX1.01
556Waardenburg syndrome, type 4cEnrichmentPOLR2F1.01
557Ovarian dysgenesis 3EnrichmentPSMC3IP1.01
558Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT1.01
559Dyskeratosis congenita, autosomal recessive 5EnrichmentRTEL11.01
560Dyskeratosis congenita, autosomal recessive 2EnrichmentNHP21.01
561Congenital heart defects, multiple types, 3EnrichmentCHEK21.01
562Premature ovarian failure 13EnrichmentMSH51.01
563Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.01
564Alpha-thalassemia/impaired intellectual development syndrome, x-linkedEnrichmentATRX1.01
565Immunodeficiency, common variable, 15EnrichmentRUVBL11.01
566Fanconi anemia, complementation group sEnrichmentBRCA11.01
567Cardiac valvular dysplasia, x-linkedEnrichmentATM1.01
568Werner syndromeEnrichmentWRN1.01
569Dyskeratosis congenita, autosomal dominant 3EnrichmentTINF21.01
570Pancreatic cancer 4EnrichmentBRCA11.01
571Ovarian cancer 1EnrichmentBRIP11.01
572Autosomal dominant dyskeratosis congenita 4EnrichmentRTEL11.01
573Spermatogenic failure 74EnrichmentMSH51.01
574OligodendrogliomaEnrichmentPOT11.01
575High grade gliomaEnrichmentATM1.01
576Fanconi anemia, complementation group d1EnrichmentBRCA21.01
577Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.01
578Melanoma, cutaneous malignant 9EnrichmentTERT1.01
579Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3EnrichmentRTEL11.01
580T-cell prolymphocytic leukemiaEnrichmentATM1.01
581Idiopathic interstitial pneumoniaEnrichmentTERT1.01
582Anaplastic oligodendrogliomaEnrichmentPOT11.01
583Acute myeloid leukemia without maturationEnrichmentNPM11.01
584Alpha thalassemia-x-linked intellectual disability syndromeEnrichmentATRX1.01
585Fissured tongueEnrichmentNSD21.01
586Peritoneum cancerEnrichmentBRCA11.01
587Lymphomatoid papulosisEnrichmentNPM11.01
588Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM11.01
589Neuroendocrine tumor of pancreasEnrichmentBRCA21.01
590Polycystic kidney diseaseEnrichmentCEP290, HDAC81.00
591Semilobar holoprosencephalyEnrichmentSMC1A, STAG21.00
592Leukemia, acute lymphoblasticEnrichmentCDKN2A, NBN0.99
593Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, LMNA0.96
594OsteoporosisEnrichmentOFD1, SRC0.96
595Lung cancer susceptibility 3EnrichmentRB1, TP530.96
596Trichorhinophalangeal syndrome, type iiEnrichmentRAD210.94
597Hutchinson-gilford progeria syndromeEnrichmentLMNA0.94
598Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.94
599CystinuriaEnrichmentCENPF0.94
600Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.94
601Microtia-anotiaEnrichmentLMNA0.94
602Meckel syndrome, type 4EnrichmentCEP2900.94
603Orofaciodigital syndrome iiiEnrichmentOFD10.94
604Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK10.94
605Ciliary dyskinesia, primary, 29EnrichmentCENPF0.94
606Bardet-biedl syndrome 14EnrichmentCEP2900.94
607Lynch syndrome 4EnrichmentRB10.94
608SyndactylyEnrichmentCSNK2B0.94
609Ectodermal dysplasiaEnrichmentRANBP20.94
610Hereditary recurrent myoglobinuriaEnrichmentLPIN10.94
611Charcot-marie-tooth hereditary neuropathyEnrichmentVRK10.94
612Sick sinus syndromeEnrichmentLMNA0.94
613Mitral valve insufficiencyEnrichmentNDE10.94
614Orofaciodigital syndromeEnrichmentOFD10.94
615Partington syndromeEnrichmentPOLA10.93
616Nasopharyngeal carcinomaEnrichmentTP530.93
617Glaucoma, normal tensionEnrichmentOPTN0.93
618Familial adenomatous polyposis 4EnrichmentDHFR0.93
619Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK20.93
620Wieacker-wolff syndromeEnrichmentCCNH0.93
621High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC0.93
622T-cell acute lymphoblastic leukemiaEnrichmentABL10.93
623Childhood apraxia of speechEnrichmentRFC30.93
624Focal segmental glomerulosclerosisEnrichmentNUP93, SDCCAG80.92
625MeningiomaEnrichmentAKT1, TERT0.92
626Charcot-marie-tooth diseaseEnrichmentDCTN1, DYNC1H1, LMNA0.91
627Bardet-biedl syndromeEnrichmentALMS1, CEP290, SDCCAG80.89
628Complex neurodevelopmental disorderEnrichmentCSNK2A1, DYRK1A, FBXW11, H4C3, H4C5, H4C9, PPP2CA, PSMD120.87
629Acute promyelocytic leukemiaEnrichmentNPM1, NUMA10.86
630Nk-cell enteropathyEnrichmentAURKB, CHEK20.86
631Tooth agenesisEnrichmentRANBP2, SUMO10.86
632Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP20.85
633Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentCPAP0.85
634Coach syndrome 1EnrichmentOFD10.85
635Deafness, autosomal recessive 63EnrichmentANAPC150.85
636Leber congenital amaurosis 10EnrichmentCEP2900.85
637Goldberg-shprintzen syndromeEnrichmentNEK90.85
638Lissencephaly 2EnrichmentNDE10.85
639Spastic diplegiaEnrichmentSPAST0.85
640Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA0.85
641Night blindnessEnrichmentCEP2900.85
642Histiocytoid hemangiomaEnrichmentLMNA0.85
643Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.85
644Autosomal thrombocytopenia with normal plateletsEnrichmentMASTL0.85
645Female infertility due to oocyte meiotic arrestEnrichmentTUBB80.85
646Joubert syndrome with ocular defectEnrichmentCEP410.85
647Genetic motor neuron diseaseEnrichmentDCTN10.85
648Endometrial stromal sarcomaEnrichmentYWHAE0.85
649Ataxia-telangiectasiaEnrichmentATM0.84
650Waardenburg syndrome, type 2aEnrichmentPOLR2F0.84
651Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsEnrichmentATRIP0.84
652Nijmegen breakage syndromeEnrichmentNBN0.84
653Chilblain lupus 1EnrichmentATRIP0.84
654Dyskeratosis congenita, autosomal dominant 6EnrichmentACD0.84
655Breast-ovarian cancer, familial 3EnrichmentRAD51C0.84
656Tumor predisposition syndrome 1EnrichmentBRCA20.84
657Fanconi anemia, complementation group oEnrichmentRAD51C0.84
658Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL10.84
659Koolen-de vries syndromeEnrichmentATM0.84
660Alpha thalassemia-intellectual disability syndrome type 1EnrichmentATRX0.84
661Chilblain lupusEnrichmentATRIP0.84
662Torsion dystonia 1EnrichmentSHQ10.84
663Interstitial lung diseaseEnrichmentTERT0.84
664Macrocytic anemiaEnrichmentTERT0.84
665Hereditary site-specific ovarian cancer syndromeEnrichmentRAD51C0.84
666Bap1 tumor predisposition syndromeEnrichmentBRCA20.84
667Dandy-walker syndromeEnrichmentPPP1CB, TUBA1A0.82
668Erythrocytosis, familial, 1EnrichmentJAK20.81
669Thyroid cancer, nonmedullary, 1EnrichmentTP530.81
670AstigmatismEnrichmentMCM70.81
671Budd-chiari syndromeEnrichmentJAK20.81
672Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT30.81
673Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL10.81
674Embryonal rhabdomyosarcomaEnrichmentTP530.81
675Silver-russell syndrome due to a point mutationEnrichmentCDKN1C0.81
676Primary hyperparathyroidismEnrichmentCDKN1B0.81
677MedulloblastomaEnrichmentBRCA2, WRN0.81
678Developmental dysplasia of the hip 1EnrichmentPSMC30.78
679Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.78
680Renal dysplasia, cysticEnrichmentCEP2900.78
681Pontocerebellar hypoplasia, type 1eEnrichmentVRK10.78
682Inflammatory myofibroblastic tumorEnrichmentRANBP20.78
683Intestinal pseudo-obstructionEnrichmentNDE10.78
684Patent ductus arteriosusEnrichmentPSMC30.78
685Early myoclonic encephalopathyEnrichmentTUBA1A0.78
686Wilms tumor 1EnrichmentBRCA2, CHEK20.76
687Lynch syndromeEnrichmentCHEK2, MLH10.76
688Differentiated thyroid carcinomaEnrichmentPCM1, TERT, TPR0.75
689Brugada syndromeEnrichmentAKAP9, LMNA0.74
690Auditory neuropathyEnrichmentCEP135, TUBB4A0.74
691Mirror movements 1EnrichmentRAD510.73
692Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE110.73
693ChordomaEnrichmentBRCA20.73
694Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentRTEL10.73
695Mismatch repair cancer syndrome 1EnrichmentMLH10.73
696Aicardi-goutieres syndrome 1EnrichmentATRIP0.73
697Spermatogenic failure 1EnrichmentSYCP20.73
698Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A0.73
699Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentSYNE10.73
700Combined oxidative phosphorylation deficiency 24EnrichmentRTEL10.73
701Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ0.73
702Hemoglobin c diseaseEnrichmentCHEK20.73
703Thrombotic microangiopathyEnrichmentATRIP0.73
704Oculomotor apraxiaEnrichmentATM0.73
705Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK10.73
706Joubert syndrome 1EnrichmentB9D2, CEP290, OFD10.73
707Capillary malformations, congenitalEnrichmentCCNH0.73
708Von hippel-lindau syndromeEnrichmentCCND10.73
709Rhabdomyosarcoma 2EnrichmentTP530.73
710Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentOPTN0.73
711Rubinstein-taybi syndrome 2EnrichmentEP3000.73
712Ciliary dyskinesia, primary, 40EnrichmentE2F60.73
713LymphomaEnrichmentTP530.73
714Myeloproliferative neoplasmEnrichmentJAK20.73
7152q23.1 microduplication syndromeEnrichmentORC40.73
716Acute megakaryocytic leukemiaEnrichmentTP530.73
717HemimegalencephalyEnrichmentAKT30.73
718FarsightednessEnrichmentMCM70.73
719Bethlem myopathy 1aEnrichmentLMNA0.72
720Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.72
721Arima syndromeEnrichmentCEP2900.72
722Usher syndrome, type iiiaEnrichmentCEP780.72
723BrachydactylyEnrichmentNIPBL0.72
724Semantic dementiaEnrichmentCHMP2B0.72
725Vesicoureteral refluxEnrichmentNIPBL0.72
726Familial isolated restrictive cardiomyopathyEnrichmentKIF20A0.72
727GliosarcomaEnrichmentATM, TP530.72
728Polycystic liver diseaseEnrichmentCDC25A, RUVBL10.68
729Giant cell glioblastomaEnrichmentATM, TP530.68
730Autosomal dominant polycystic liver diseaseEnrichmentCDC25A, RUVBL10.68
731Meckel syndrome, type 1EnrichmentB9D2, CEP2900.67
732Immunodeficiency 47EnrichmentCEP2900.67
733Rett syndrome, congenital variantEnrichmentSMC1A0.67
734Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.67
735Perrault syndromeEnrichmentSGO20.67
736Congenital muscular dystrophyEnrichmentLMNA0.67
737MyocarditisEnrichmentLMNA0.67
738Early-onset posterior polar cataractEnrichmentCHMP4B0.67
739Glaucoma, primary open angleEnrichmentOPTN0.65
740Klippel-trenaunay-weber syndromeEnrichmentCCNH0.65
741Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH0.65
742Rubinstein-taybi syndrome 1EnrichmentEP3000.65
743Hemangioma, capillary infantileEnrichmentCCNH0.65
744Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3000.65
745Basal cell carcinoma 1EnrichmentCCNH0.65
746Lung squamous cell carcinomaEnrichmentCDKN2A0.65
747MicrophthalmiaEnrichmentDYRK1A, MCM70.65
748Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentATRIP0.64
749Fanconi anemia, complementation group d2EnrichmentBRIP10.64
750Glutaric acidemia iEnrichmentSYCE20.64
751Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.64
752Spinocerebellar ataxia, autosomal recessive 8EnrichmentSYNE10.64
753Autosomal recessive cerebellar ataxiaEnrichmentSYNE10.64
754Acute myeloid leukemia with maturationEnrichmentNPM10.64
755GlioblastomaEnrichmentATM0.64
756Emery-dreifuss muscular dystrophy 4, autosomal dominantEnrichmentSYNE10.64
757HypoglycemiaEnrichmentNSD20.64
758Vascular dementiaEnrichmentATRIP0.64
759Idiopathic aplastic anemiaEnrichmentTERT0.64
760Long qt syndromeEnrichmentAKAP9, LMNA0.62
761Ellis-van creveld syndromeEnrichmentPRKACA0.62
762Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA0.62
763Leukoencephalopathy with vanishing white matterEnrichmentANKLE20.62
764Progressive non-fluent aphasiaEnrichmentCHMP2B0.62
765Behavioral variant of frontotemporal dementiaEnrichmentCHMP2B0.62
766Peripheral nervous system diseaseEnrichmentDYNC1H1, LMNA0.60
767NeuropathyEnrichmentDYNC1H1, LMNA0.60
768Esophageal cancerEnrichmentTP530.60
769Squamous cell carcinoma, head and neckEnrichmentTP530.60
770Capillary malformation-arteriovenous malformation 1EnrichmentCCNH0.60
771Leukemia, chronic myeloidEnrichmentABL10.60
772Motor neuron diseaseEnrichmentOPTN0.60
773Gallbladder cancerEnrichmentTP530.60
774Hereditary hemorrhagic telangiectasiaEnrichmentCCNH0.60
775MegacolonEnrichmentAKT30.60
776NephronophthisisEnrichmentCEP290, INCENP0.59
777Amyotrophic lateral sclerosis 1EnrichmentDCTN10.58
778Stickler syndromeEnrichmentALMS10.58
779Kabuki syndrome 1EnrichmentBRCA20.57
780Wolf-hirschhorn syndromeEnrichmentNSD20.57
781Hyperphenylalaninemia, bh4-deficient, aEnrichmentTEX120.57
782Waardenburg syndrome, type 4aEnrichmentPOLR2F0.57
783Wilms tumor 5EnrichmentCHEK20.57
784Clear cell renal cell carcinomaEnrichmentATM0.57
785Waardenburg syndromeEnrichmentPOLR2F0.57
786Spastic ataxiaEnrichmentCEP290, SYNE1, SYNE2, TUBB30.56
787Lymphoma, non-hodgkin, familialEnrichmentTP530.55
788Orofaciodigital syndrome viEnrichmentOFD10.55
789Frontotemporal dementia 1EnrichmentDCTN10.55
790Atrial heart septal defectEnrichmentHDAC80.55
791Interatrial communicationEnrichmentHDAC80.55
792Cardiomyopathy, dilated, 1aEnrichmentLMNA, SYNE10.54
793Prader-willi syndromeEnrichmentHERC20.52
794Waardenburg syndrome, type 1EnrichmentPOLR2F0.52
795Waardenburg syndrome, type 2eEnrichmentPOLR2F0.52
796Renal cell carcinoma, papillary, 1EnrichmentATM0.52
797Third-degree atrioventricular blockEnrichmentSYNE10.52
798Fetal akinesia deformation sequence 1EnrichmentNUP88, TUBA1A0.52
799Cardiac conduction defectEnrichmentLMNA0.51
800Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA0.51
801Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.51
802Congenital hypothyroidismEnrichmentTUBB10.51
803Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA0.51
804Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA0.51
805Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentATRX, MSH5, STAG3, SYCE10.51
806Charge syndromeEnrichmentEP3000.50
807Leukemia, acute lymphoblastic 3EnrichmentJAK20.50
808Arteriovenous malformationEnrichmentCCNH0.50
809Adult hepatocellular carcinomaEnrichmentTP530.50
810Cowden syndromeEnrichmentAKT10.50
811Diaphragmatic hernia, congenitalEnrichmentNIPBL0.49
812Cone-rod dystrophy 2EnrichmentALMS1, CEP290, CEP780.48
813MyopathyEnrichmentDYNC1H1, EMD0.47
814Ewing sarcomaEnrichmentSMARCA50.47
815Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.47
816Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA0.46
817Hereditary spastic paraplegiaEnrichmentCEP63, SPAST0.44
818MyopiaEnrichmentNDE10.44
819Kidney diseaseEnrichmentCEP2900.44
820Myelodysplastic syndromeEnrichmentTP530.43
821Combined immunodeficiencyEnrichmentPOLD10.43
822Combined t cell and b cell immunodeficiencyEnrichmentPOLD10.43
823Combined t and b cell immunodeficiencyEnrichmentPOLD10.43
824PolydactylyEnrichmentBRCA20.43
825Ventricular septal defectEnrichmentNSD20.43
826West syndromeEnrichmentCSNK1E, TUBA1A0.42
827Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA0.41
828Cleft palate, isolatedEnrichmentNIPBL0.39
829Cardiomyopathy, dilated, 1eEnrichmentLMNA0.39
830Cataract 44EnrichmentLEMD20.39
831Alobar holoprosencephalyEnrichmentSTAG20.39
832Aicardi-goutieres syndromeEnrichmentATRIP0.39
833Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, DYNC1H1, SMC30.38
834Heart, malformation ofEnrichmentMAPK10.38
835Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.38
836Pontocerebellar hypoplasiaEnrichmentVRK10.38
837Patent foramen ovaleEnrichmentPSMC30.38
838Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCHMP2B, DCTN1, OPTN0.37
839Dilated cardiomyopathyEnrichmentEMD, LMNA, NCAPH20.37
840Hirschsprung disease 1EnrichmentNUP98, POLR2F0.36
841Immune deficiency diseaseEnrichmentATM0.36
842Diamond-blackfan anemiaEnrichmentRPS27, TP530.36
843ThrombocytopeniaEnrichmentNSD2, SRC, TUBB10.36
844Arteriovenous malformations of the brainEnrichmentLEMD30.36
845PheochromocytomaEnrichmentMAX0.35
846Heart diseaseEnrichmentABL10.35
847Body mass index quantitative trait locus 11EnrichmentCENPO, NUDC0.35
848LeukodystrophyEnrichmentALMS10.34
849Polydactyly, postaxial, type a1EnrichmentEP3000.33
850Rare genetic intellectual disabilityEnrichmentEP3000.33
851Male infertility with spermatogenesis disorderEnrichmentDYRK1A0.33
852Familial isolated dilated cardiomyopathyEnrichmentLMNA, TMPO0.32
853Myocardial infarctionEnrichmentPSMA60.31
854Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentNSD20.31
855Neural tube defectsEnrichmentRAD9B0.31
856ClubfootEnrichmentNSD20.31
857OligospermiaEnrichmentMSH40.31
858Protein-deficiency anemiaEnrichmentNSD20.31
859Hereditary retinal dystrophyEnrichmentALMS1, CEP164, CEP250, CEP290, CEP78, NEK2, OFD1, SDCCAG8, TUBGCP60.30
860Fundus dystrophyEnrichmentALMS1, CEP164, CEP250, CEP290, CEP78, NEK2, OFD1, SDCCAG8, TUBGCP60.30
861Periventricular nodular heterotopiaEnrichmentBRCA10.29
862CataractEnrichmentWRN0.29
863Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA0.29
864Familial atrial fibrillationEnrichmentNUP1550.29
865Autoinflammatory diseaseEnrichmentLPIN20.29
866Muscular dystrophyEnrichmentLMNA0.29
867Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP1, TPR0.28
868Beckwith-wiedemann syndromeEnrichmentCDKN1C0.28
869Developmental and epileptic encephalopathy 1EnrichmentCSNK1E0.27
870Jeune thoracic dystrophyEnrichmentLBR0.27
871Renal cell carcinoma, nonpapillaryEnrichmentATM0.27
872Leber plus diseaseEnrichmentALMS1, CEP290, TUBB4B0.26
873Tetralogy of fallotEnrichmentNIPBL0.26
874Parkinson's diseaseEnrichmentRFC10.26
875Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDKC10.25
876Asphyxiating thoracic dystrophyEnrichmentLBR0.24
877Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.23
878Syndromic intellectual disabilityEnrichmentNSD20.23
879Severe covid-19EnrichmentCENPF0.23
880Sensorineural hearing lossEnrichmentCDC14A, CEP780.23
881Long qt syndrome 1EnrichmentAKAP90.22
882Stargardt disease 1EnrichmentALMS10.22
883Visceral heterotaxy 5EnrichmentNME70.21
884Diamond-blackfan anemia 1EnrichmentTP530.21
885Noonan syndrome 1EnrichmentPPP1CB0.21
886Connective tissue diseaseEnrichmentOFD10.21
887Ear malformationEnrichmentCDC14A0.20
888Parkinson disease, late-onsetEnrichmentRFC10.20
889Type 2 diabetes mellitusEnrichmentAKT2, WRN0.20
890Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCENPP, MCM20.20
891Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentLBR0.20
892Usher syndromeEnrichmentCEP2500.20
893Left ventricular noncompactionEnrichmentLMNA0.18
894Eye diseaseEnrichmentALMS10.18
895RasopathyEnrichmentPPP1CB0.18
896Undetermined early-onset epileptic encephalopathyEnrichmentFZR1, YWHAG0.17
897Kallmann syndromeEnrichmentPOLR2F0.16
898Nephrotic syndromeEnrichmentNUP930.14
899Optic atrophy plus syndromeEnrichmentTUBB60.13
900Male infertilityEnrichmentFKBP60.08
901Systemic lupus erythematosusEnrichmentATRIP0.06
902Retinitis pigmentosaEnrichmentALMS1, CEP290, NEK2, OFD10.05
903Hypertrophic cardiomyopathyEnrichmentNSD20.05
904Primary ciliary dyskinesiaEnrichmentOFD10.05
905Rare genetic deafnessEnrichmentCDC14A, POLR2F0.04
906Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCDC14A0.01
907Mitochondrial diseaseEnrichmentTOP3A0.00

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