HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)

Pathway network for the HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) SuperPath

Sources:
  • Reactome

Pathways in the HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) SuperPath

#NameSourceGenes
1HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)Reactome
2DNA RepairReactome
(see all 334) (see less)
3Cell Cycle CheckpointsReactome
(see all 285) (see less)
4DNA Double-Strand Break RepairReactome
5G2/M CheckpointsReactome
6Homology Directed RepairReactome
7Processing of DNA double-strand break endsReactome
8G2/M DNA damage checkpointReactome
9Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complexReactome
10HDR through MMEJ (alt-NHEJ)Reactome

Gene overlap in member pathways for HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) SuperPath

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

Disorders associated with HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Breast cancerEnrichmentABRAXAS1, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51, RAD51C, RAD51D, XRCC2, XRCC316.00
2Ovarian cancerEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, ERCC4, MRE11, NBN, PALB2, RAD50, RAD51C, RAD51D, WRN16.00
3Pancreatic cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, ERCC4, NBN, PALB2, POLD1, RBBP816.00
4Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51, RAD51B, RAD51C, RAD51D, XRCC216.00
5Hereditary breast carcinomaEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, NBN, PALB2, RAD50, RAD51, RAD51D16.00
6Inherited cancer-predisposing syndromeEnrichmentABRAXAS1, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, POLD1, POLE, RAD50, RAD51B, RAD51C, RAD51D, XRCC216.00
7Gastric cancerEnrichmentATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, NBN, PALB2, RAD51C, RAD51D, TP5316.00
8Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, BRCA2, BRIP1, NBN, PALB2, RAD51C, RAD51D16.00
9Lynch syndrome 1EnrichmentATM, CHEK2, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51D11.06
10Uterine corpus cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, CHEK2, PALB2, RAD51C10.90
11Endometrial cancerEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS2, RAD51C10.72
12Colorectal cancerEnrichmentATM, BLM, BRCA1, BRCA2, BRIP1, CHEK2, FANCC, FANCE, FANCI, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, RAD51D, REV3L, RMI1, TP5310.68
13Fanconi anemia, complementation group aEnrichmentBRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC210.66
14Xeroderma pigmentosum, variant typeEnrichmentDDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC10.45
15Prostate cancerEnrichmentATM, BRCA1, BRCA2, CHEK2, NBN, PALB2, POLK, RAD51D, TP5310.30
16Meier-gorlin syndrome 1EnrichmentCDC45, CDC6, MCM7, ORC1, ORC4, ORC69.38
17Colonic benign neoplasmEnrichmentATM, CHEK2, MLH1, MRE11, MUTYH, PALB27.77
18Familial colorectal cancer type xEnrichmentATM, BRCA2, CHEK2, MUTYH, POLD1, POLE7.05
19Seckel syndromeEnrichmentATR, ATRIP, CENPE, DNA2, NUP85, RBBP86.67
20Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C96.46
21Mismatch repair cancer syndrome 1EnrichmentMLH1, MSH2, MSH6, PMS26.44
22HepatoblastomaEnrichmentBARD1, BRCA2, ERCC2, ERCC5, FANCA, MSH2, TP536.35
23Lynch syndromeEnrichmentCHEK2, FANCM, MLH1, MSH2, MSH6, PMS26.05
24RhabdomyosarcomaEnrichmentBRCA1, BRCA2, MSH2, MSH6, PMS2, TP535.86
25Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC3, ERCC4, ERCC55.75
26Li-fraumeni syndromeEnrichmentCDKN2A, CHEK2, MDM2, TP535.56
27Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD505.37
28Cerebrooculofacioskeletal syndrome 1EnrichmentERCC1, ERCC2, ERCC5, ERCC65.28
29Mosaic variegated aneuploidy syndromeEnrichmentBUB1, BUB1B, BUB3, MAD1L14.90
30Uv-sensitive syndromeEnrichmentERCC6, ERCC8, UVSSA4.83
31Melanoma, cutaneous malignant 1EnrichmentACD, BAP1, MGMT, POT1, TERF2IP4.37
32Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.30
33Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.30
34Li-fraumeni syndrome 1EnrichmentCHEK2, TP534.30
35SarcomaEnrichmentCHEK2, TP534.30
36Microcephaly, growth restriction, and increased sister chromatid exchange 2EnrichmentRMI2, TOP3A4.30
37Lynch syndrome 4EnrichmentMSH2, MSH6, PMS24.24
38Familial colorectal cancerEnrichmentMLH1, MSH2, MUTYH, TP534.17
39Myeloma, multipleEnrichmentATM, BAP1, BARD1, BRCA2, LIG4, TP534.16
40Diffuse large b-cell lymphomaEnrichmentBRCA2, CHEK2, NBN, PMS2, TP534.11
41Diffuse midline glioma, h3 k27m-mutantEnrichmentBRCA2, BRIP14.01
42Inflammatory breast carcinomaEnrichmentBRCA1, BRCA24.01
43Bilateral breast cancerEnrichmentBRCA1, BRCA24.01
44Neuroendocrine tumor of pancreasEnrichmentBRCA2, PALB24.01
45Isolated growth hormone deficiency, type iaEnrichmentBRCA2, DNA2, XRCC43.99
46Cockayne syndrome aEnrichmentERCC4, ERCC6, ERCC83.85
47Breast-ovarian cancer, familial 2EnrichmentBRCA1, BRCA2, PMS23.85
48GlioblastomaEnrichmentATM, MSH2, SLX43.85
49Osteogenic sarcomaEnrichmentCHEK2, TP533.83
50Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.83
51AdenocarcinomaEnrichmentATM, TP533.83
52Bone osteosarcomaEnrichmentCHEK2, TP533.83
53Lig4 syndromeEnrichmentLIG4, XRCC43.81
54Short stature, microcephaly, and endocrine dysfunctionEnrichmentXRCC2, XRCC43.81
55Hepatocellular carcinomaEnrichmentNBN, RAD503.78
56Cockayne syndrome bEnrichmentERCC1, ERCC6, ERCC83.55
57Clear cell renal cell carcinomaEnrichmentATM, BAP1, OGG13.55
58Hoyeraal-hreidarsson syndromeEnrichmentACD, RTEL1, TINF23.55
59Hereditary site-specific ovarian cancer syndromeEnrichmentRAD51C, RAD51D3.54
60Polymerase proofreading-related polyposisEnrichmentPOLD1, POLE3.54
61Bladder cancerEnrichmentATM, BRCA1, CDKN1A, CDKN2A, TP533.51
62MacroglossiaEnrichmentNSD2, TAOK13.36
63Tumor predisposition syndrome 1EnrichmentBAP1, BRCA23.33
64Bap1 tumor predisposition syndromeEnrichmentBAP1, BRCA23.33
65Cockayne syndromeEnrichmentERCC4, ERCC6, ERCC83.32
66GliosarcomaEnrichmentATM, MGMT, MSH2, TP533.28
67ChordomaEnrichmentBRCA2, PALB23.24
68Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA1, BRCA23.24
69CholangiocarcinomaEnrichmentBRCA1, BRCA23.24
70Muir-torre syndromeEnrichmentMLH1, MSH23.22
71Xeroderma pigmentosum, complementation group aEnrichmentXPA, XPC3.22
72Cockayne syndrome type 3EnrichmentERCC6, ERCC83.22
73Giant cell glioblastomaEnrichmentATM, MGMT, MSH2, TP533.18
74Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP37, NUP853.18
75Primary ovarian insufficiencyEnrichmentCHEK2, ERCC1, NBN, RAD51C, SIRT63.07
76Seckel syndrome 2EnrichmentRBBP83.05
77Glioma susceptibility 3EnrichmentBRCA23.05
78Pancreatic cancer 2EnrichmentBRCA23.05
79Jawad syndromeEnrichmentRBBP83.05
80Ataxia-telangiectasia-like disorder 1EnrichmentMRE113.05
81Spinocerebellar ataxia, autosomal recessive 26EnrichmentXRCC13.05
82Aicardi-goutieres syndrome 1EnrichmentATRIP, DCLRE1C3.04
83Lung cancerEnrichmentBRCA1, CHEK2, ERCC6, MLH1, PALB22.99
84Tumor predisposition syndrome 4EnrichmentCHEK22.96
85Developmental and epileptic encephalopathy 56EnrichmentYWHAG2.96
86LeiomyosarcomaEnrichmentCHEK22.96
87Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK12.96
88Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.96
89TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2H52.95
90Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B1, YWHAE2.89
91Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B1, YWHAE2.89
92Leukemia, chronic lymphocyticEnrichmentATM, POT1, TP532.81
93Fanconi anemia, complementation group d1EnrichmentBRCA22.75
94Mitochondrial dna depletion syndrome 20EnrichmentLIG32.75
95Congenital heart defects, multiple types, 3EnrichmentCHEK22.66
96Nijmegen breakage syndromeEnrichmentNBN2.58
97B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, TP532.50
98Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRCA2, BRIP12.48
99Leukemia, acute lymphoblastic 3EnrichmentERCC4, PALB22.48
100Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE11, PNKP2.45
101Isolated tracheo-esophageal fistulaEnrichmentBRCA2, BRIP12.38
102Glioma susceptibility 1EnrichmentBAP1, TP532.38
103Ewing sarcomaEnrichmentBAP1, SMARCA52.38
104Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B, MAD1L12.37
105Primary autosomal recessive microcephalyEnrichmentCENPE, KNL1, MCM7, NUP372.36
106Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ2.35
107Hemoglobin c diseaseEnrichmentCHEK22.35
108Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK12.35
109Kabuki syndrome 1EnrichmentBRCA22.28
110Renal cell carcinoma, nonpapillaryEnrichmentATM, BAP1, OGG12.27
111Endometrial stromal sarcomaEnrichmentYWHAE2.26
112Fanconi anemia, complementation group d2EnrichmentBRIP1, FANCD22.24
113LymphomaEnrichmentPMS2, TP532.24
114Adrenocortical carcinomaEnrichmentCDKN2A, TP532.20
115Omenn syndromeEnrichmentDCLRE1C, LIG42.18
116Wilms tumor 5EnrichmentCHEK22.18
117Kidney clear cell sarcomaEnrichmentYWHAE2.18
118Premature menopauseEnrichmentERCC1, NBN2.15
119Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.15
120Bloom syndromeEnrichmentBLM2.15
121Fanconi anemia, complementation group jEnrichmentBRIP12.15
122Seckel syndrome 1EnrichmentATR2.15
123Seckel syndrome 8EnrichmentDNA22.15
124Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA12.15
125Bone marrow failure syndrome 5EnrichmentTP532.15
126Papilloma of choroid plexusEnrichmentTP532.15
127Basal cell carcinoma 7EnrichmentTP532.15
128Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6EnrichmentDNA22.15
129Anaplastic thyroid carcinomaEnrichmentTP532.15
130Infant-type hemispheric gliomaEnrichmentBRCA12.15
131Riddle syndromeEnrichmentRNF1682.15
132Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR2.15
133Intellectual developmental disorder, autosomal recessive 38EnrichmentHERC22.15
134Endometrial serous adenocarcinomaEnrichmentATM2.15
135Ductal carcinoma in situEnrichmentTP532.15
136Rauch-steindl syndromeEnrichmentNSD22.15
137Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5EnrichmentTOP3A2.15
138Thyroid gland undifferentiated carcinomaEnrichmentTP532.15
139Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeEnrichmentBRCC32.15
140Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.15
141Rothmund-thomson syndrome, type 4EnrichmentDNA22.15
142Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.15
143Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC42.15
144B-cell non-hodgkin lymphomaEnrichmentATM2.15
145Choroid plexus cancerEnrichmentTP532.15
146Pleomorphic xanthoastrocytomaEnrichmentTP532.15
147Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR2.15
148Primary peritoneal carcinomaEnrichmentBRCA12.15
149Advanced sleep phase syndrome, familial, 4EnrichmentTIMELESS2.15
150Lethal brain and heart developmental defectsEnrichmentSIRT62.15
151PolydactylyEnrichmentBRCA22.10
152Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentLIG32.10
153Severe combined immunodeficiencyEnrichmentDCLRE1C, LIG4, NHEJ12.10
154MedulloblastomaEnrichmentBRCA2, WRN2.09
155Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B2.06
156Aplastic anemiaEnrichmentNBN2.05
157LissencephalyEnrichmentDYNC1H1, NBN, PAFAH1B12.04
158Lip and oral cavity carcinomaEnrichmentABL1, TP532.02
159Leukemia, acute lymphoblasticEnrichmentNBN2.01
160Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual developmentEnrichmentPOLE2.01
161Cerebrooculofacioskeletal syndrome 4EnrichmentERCC12.01
162Colorectal cancer 10EnrichmentPOLD12.01
163Fanconi anemia, complementation group pEnrichmentSLX42.01
164Mirror movements 2EnrichmentRAD512.01
165Colorectal cancer 12EnrichmentPOLE2.01
166Fanconi anemia, complementation group rEnrichmentRAD512.01
167Fanconi anemia, complementation group uEnrichmentXRCC22.01
168Immunodeficiency 120EnrichmentPOLD12.01
169Premature ovarian failure 17EnrichmentXRCC22.01
170Spermatogenic failure 50EnrichmentXRCC22.01
171Xfe progeroid syndromeEnrichmentERCC42.01
172Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeEnrichmentPOLD12.01
173Ataxia-telangiectasia-like disorder 2EnrichmentPCNA2.01
174Ovarian dysgenesis 9EnrichmentSPIDR2.01
175Basal cell carcinomaEnrichmentPALB22.01
176Immunodeficiency 122EnrichmentPOLD32.01
177Esophageal atresia/tracheoesophageal fistulaEnrichmentBRCA2, BRIP1, POLR2B1.97
178Dyskeratosis congenitaEnrichmentPOT1, RTEL1, TINF21.97
179MelanomaEnrichmentCHEK21.96
180Isolated split hand-split foot malformationEnrichmentBTRC, SEM11.95
181Lactose intolerance, adult typeEnrichmentMCM61.94
182Meier-gorlin syndrome 3EnrichmentORC61.94
183Meier-gorlin syndrome 2EnrichmentORC41.94
184Immunodeficiency 80 with or without congenital cardiomyopathyEnrichmentMCM101.94
185Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.94
186Stankiewicz-isidor syndromeEnrichmentPSMD121.94
187AnisometropiaEnrichmentMCM71.94
188Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.94
189Immunodeficiency 54EnrichmentMCM41.94
190Deafness, autosomal dominant 70EnrichmentMCM21.94
191Meier-gorlin syndrome 8EnrichmentMCM51.94
192Premature ovarian failure 10EnrichmentMCM81.94
193Meier-gorlin syndrome 5EnrichmentCDC61.94
194Meier-gorlin syndrome 7EnrichmentCDC451.94
195Specific learning disabilityEnrichmentYWHAG1.92
196Immunodeficiency 124, severe combinedEnrichmentNHEJ11.90
197Melanoma, uveal 2EnrichmentBAP11.90
198Otofaciocervical syndrome 1EnrichmentEYA11.90
199Spinocerebellar ataxia, autosomal recessive 23EnrichmentTDP21.90
200Orofacial cleft 10EnrichmentSUMO11.90
201Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1EnrichmentTDP11.90
202Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC1.90
203Microphthalmia/coloboma 13EnrichmentNHEJ11.90
204Wilms tumor 1EnrichmentBRCA21.88
205Adrenocortical carcinoma, hereditaryEnrichmentTP531.85
206Skin/hair/eye pigmentation, variation in, 1EnrichmentHERC21.85
207Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphismEnrichmentBRCC31.85
208Cervical cancerEnrichmentTP531.85
209Rothmund-thomson syndrome, type 2EnrichmentDNA21.85
210Lymphoma, hodgkin, classicEnrichmentTP531.85
211Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.85
212Fanconi anemia, complementation group sEnrichmentBRCA11.85
213Cardiac valvular dysplasia, x-linkedEnrichmentATM1.85
214Werner syndromeEnrichmentWRN1.85
215Pancreatic cancer 4EnrichmentBRCA11.85
216Ovarian cancer 1EnrichmentBRIP11.85
217Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTP53BP11.85
218Congenital fibrosarcomaEnrichmentTP531.85
219High grade gliomaEnrichmentATM1.85
220Cervix carcinomaEnrichmentTP531.85
221Hodgkin's lymphomaEnrichmentTP531.85
222T-cell prolymphocytic leukemiaEnrichmentATM1.85
223Fissured tongueEnrichmentNSD21.85
224Peritoneum cancerEnrichmentBRCA11.85
225Microcephaly and chorioretinopathy 3EnrichmentTP53BP11.85
226Pleomorphic rhabdomyosarcomaEnrichmentTP531.85
227Submucosal cleft palateEnrichmentUBB1.85
228Cleft hard palateEnrichmentUBB1.85
229Nk-cell enteropathyEnrichmentCHEK21.85
230Fanconi anemia, complementation group cEnrichmentDCLRE1B, FANCC1.81
231Galloway-mowat syndromeEnrichmentNUP107, NUP1331.75
232PolymicrogyriaEnrichmentDYNC1H1, PSMC31.75
233Xeroderma pigmentosum, complementation group fEnrichmentERCC41.71
234Fanconi anemia, complementation group nEnrichmentPALB21.71
235Melanoma, cutaneous malignant 6EnrichmentXRCC31.71
236Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentPOLE1.71
237Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic faciesEnrichmentPOLK1.71
238Dyskeratosis congenita, autosomal recessive 5EnrichmentRTEL11.71
239Pancreatic cancer 3EnrichmentPALB21.71
240Cerebellar ataxia, neuropathy, and vestibular areflexia syndromeEnrichmentRFC11.71
241Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.71
242Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyEnrichmentPOLE1.71
243Autosomal dominant dyskeratosis congenita 4EnrichmentRTEL11.71
244Fanconi anemia, complementation group qEnrichmentERCC41.71
245Xeroderma pigmentosum group fEnrichmentERCC41.71
246Facial dysmorphism, immunodeficiency, livedo, and short statureEnrichmentPOLE1.71
247Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3EnrichmentRTEL11.71
248Complex neurodevelopmental disorderEnrichmentBAP1, H4C3, H4C5, H4C9, KDM4B1.70
249Accelerated tumor formationEnrichmentMDM21.68
250Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A1.68
251Premature chromatid separation traitEnrichmentBUB1B1.68
252Developmental delay with or without intellectual impairment or behavioral abnormalitiesEnrichmentTAOK11.68
253Nephrotic syndrome, type 19EnrichmentNUP1601.68
254Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC201.68
255Lessel-kubisch syndromeEnrichmentMDM21.68
256Bone marrow failure syndrome 6EnrichmentMDM41.68
257Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW111.68
258Houge-janssens syndrome 4EnrichmentPPP2R5C1.68
259Galloway-mowat syndrome 8EnrichmentNUP1331.68
260Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC71.68
261Houge-janssens syndrome 2EnrichmentPPP2R1A1.68
262Microcephaly 4, primary, autosomal recessiveEnrichmentKNL11.68
263Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.68
264MicrohydranencephalyEnrichmentNDE11.68
265Galloway-mowat syndrome 7EnrichmentNUP1071.68
266Rothmund-thomson syndrome, type 1EnrichmentANAPC11.68
267Neuroendocrine tumorEnrichmentCDKN1B1.68
268Lissencephaly 4 with microcephalyEnrichmentNDE11.68
269Meckel syndrome, type 10EnrichmentB9D21.68
270Nephrotic syndrome, type 11EnrichmentNUP1071.68
271Dync1h1-related disordersEnrichmentDYNC1H11.68
272Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE1.68
273Ovarian dysgenesis 6EnrichmentNUP1071.68
274Short stature and microcephaly with genital anomaliesEnrichmentCENPT1.68
275Nephrotic syndrome, type 18EnrichmentNUP1331.68
276Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I21.68
277HydranencephalyEnrichmentNDE11.68
278Microcephaly 30, primary, autosomal recessiveEnrichmentBUB11.68
279Cdkn2a cancer predispositionEnrichmentCDKN2A1.68
280Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L11.68
281Nde1-related microhydranencephalyEnrichmentNDE11.68
282Familial acute necrotizing encephalopathyEnrichmentRANBP21.68
283Lissencephaly due to lis1 mutationEnrichmentPAFAH1B11.68
284Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.68
285Ataxia-telangiectasiaEnrichmentATM1.68
286Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsEnrichmentATRIP1.68
287Polycythemia veraEnrichmentATM1.68
288Chilblain lupus 1EnrichmentATRIP1.68
289Nasopharyngeal carcinomaEnrichmentTP531.68
290Koolen-de vries syndromeEnrichmentATM1.68
291Chilblain lupusEnrichmentATRIP1.68
292Atypical teratoid rhabdoid tumorEnrichmentTP531.68
293Anaplastic astrocytomaEnrichmentTP531.68
294Squamous cell carcinomaEnrichmentTP531.68
295Childhood apraxia of speechEnrichmentRFC31.68
296Uvula, bifidEnrichmentUBB1.67
297Cleft soft palateEnrichmentUBB1.67
298Birk-aharoni syndromeEnrichmentPSMC11.64
299Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.64
30017q24.2 microdeletion syndromeEnrichmentPSMD121.64
301TorticollisEnrichmentACTL6A1.61
302Baraitser-winter syndrome 1EnrichmentACTB1.61
303Melanoma, uveal 1EnrichmentMBD41.61
304Xeroderma pigmentosum, complementation group bEnrichmentERCC31.61
305Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.61
306Ataxia-oculomotor apraxia 4EnrichmentPNKP1.61
307Fanconi anemia, complementation group tEnrichmentUBE2T1.61
308Immunodeficiency 38 with basal ganglia calcificationEnrichmentISG151.61
309Ruijs-aalfs syndromeEnrichmentSPRTN1.61
310Fanconi anemia, complementation group gEnrichmentFANCG1.61
311Tumor predisposition syndrome 3EnrichmentPOT11.61
312Fanconi anemia, complementation group vEnrichmentMAD2L21.61
313White-kernohan syndromeEnrichmentDDB11.61
314Fanconi anemia, complementation group bEnrichmentFANCB1.61
315Spermatogenic failure 28EnrichmentFANCM1.61
316Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8EnrichmentPOT11.61
317Premature ovarian failure 15EnrichmentFANCM1.61
318Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.61
319Lynch syndrome 2EnrichmentMLH11.61
320Xeroderma pigmentosum, complementation group dEnrichmentERCC21.61
321Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.61
322Growth retardation, developmental delay, and facial dysmorphismEnrichmentFTO1.61
323Xeroderma pigmentosum group bEnrichmentERCC31.61
324Becker nevus syndromeEnrichmentACTB1.61
325Dystonia-deafness syndrome 1EnrichmentACTB1.61
326Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.61
327High-grade astrocytoma with piloid featuresEnrichmentPOT11.61
328Dyskeratosis congenita, autosomal recessive 8EnrichmentDCLRE1B1.61
329Cerebroretinal microangiopathy with calcifications and cysts 3EnrichmentPOT11.61
330Uv-sensitive syndrome 3EnrichmentUVSSA1.61
331Spinal muscular atrophy with congenital bone fractures 2EnrichmentASCC11.61
332Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.61
333Familial adenomatous polyposis 3EnrichmentNTHL11.61
334Immunodeficiency 96EnrichmentLIG11.61
335Body mass index quantitative trait locus 14EnrichmentFTO1.61
336Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.61
337Fanconi anemia, complementation group lEnrichmentFANCL1.61
338Mismatch repair cancer syndrome 2EnrichmentMSH21.61
339Leber congenital amaurosis 19EnrichmentUSP451.61
340Mismatch repair cancer syndrome 4EnrichmentPMS21.61
341Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresEnrichmentADPRS1.61
342Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.61
343Multisystem proteinopathyEnrichmentVCP1.61
344Rectal benign neoplasmEnrichmentMSH21.61
345Autosomal recessive spastic paraplegia type 60EnrichmentWDR481.61
346Tumor predisposition syndrome 2EnrichmentMBD41.61
347Baraitser-winter syndromeEnrichmentACTB1.61
348Intellectual developmental disorder, autosomal recessive 81EnrichmentASCC31.61
349Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.61
350Pituitary cancerEnrichmentPMS21.61
351Ascending colon cancerEnrichmentMSH21.61
352Fanconi anemia, complementation group xEnrichmentFAAP1001.61
353Ovarian cystEnrichmentMSH21.61
354Congenital smooth muscle hamartomaEnrichmentACTB1.61
355Xeroderma pigmentosum group dEnrichmentERCC21.61
356Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.61
357Chromosome 2q35 duplication syndromeEnrichmentNHEJ11.60
358Dubowitz syndromeEnrichmentLIG41.60
359Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentDCLRE1C1.60
360Intellectual developmental disorder, autosomal dominant 65EnrichmentKDM4B1.60
361Branchiootic syndromeEnrichmentEYA11.60
362Branchiootic syndrome 1EnrichmentEYA11.60
363Ocular melanomaEnrichmentBAP11.60
364Kury-isidor syndromeEnrichmentBAP11.60
365Otofaciocervical syndromeEnrichmentEYA11.60
366Microcephalic primordial dwarfism-insulin resistance syndromeEnrichmentXRCC41.60
367Williams-beuren syndromeEnrichmentBAZ1B, RFC21.59
368Small cell cancer of the lungEnrichmentTP531.55
369Thyroid cancer, nonmedullary, 1EnrichmentTP531.55
370Mantle cell lymphomaEnrichmentATM1.55
371Lung sarcomatoid carcinomaEnrichmentTP531.55
372Embryonal rhabdomyosarcomaEnrichmentTP531.55
373Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentTP53BP11.55
374Thrombotic microangiopathyEnrichmentATRIP1.55
375Oculomotor apraxiaEnrichmentATM1.55
376Dyskeratosis congenita, x-linkedEnrichmentRTEL11.53
377Breast-ovarian cancer, familial 3EnrichmentRAD51C1.53
378Breast-ovarian cancer, familial 4EnrichmentRAD51D1.53
379Fanconi anemia, complementation group oEnrichmentRAD51C1.53
380Breast-ovarian cancer, familial 5EnrichmentPALB21.53
381Cutis laxa, autosomal recessive, type ibEnrichmentMUS811.53
382T-cell acute lymphoblastic leukemiaEnrichmentABL11.53
383Cerebral palsyEnrichmentBRCA21.47
384Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.47
385Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.47
386Thyroid hemiagenesisEnrichmentPSMD31.47
387Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentATRIP1.46
388Rhabdomyosarcoma 2EnrichmentTP531.46
389HypoglycemiaEnrichmentNSD21.46
390Vascular dementiaEnrichmentATRIP1.46
391Acute megakaryocytic leukemiaEnrichmentTP531.46
392Mesothelioma, malignantEnrichmentBAP11.43
393Niemann-pick disease, type aEnrichmentAPBB11.43
394Deafness, autosomal dominant 10EnrichmentEYA41.43
395Cardiomyopathy, dilated, 1jEnrichmentEYA41.43
396Niemann-pick disease, type bEnrichmentAPBB11.43
397Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentDCLRE1C1.43
398Arthrogryposis multiplex congenita 6EnrichmentRIF11.43
399Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentDCLRE1C1.43
400Isolated anophthalmia-microphthalmia syndromeEnrichmentNHEJ11.43
401Mirror movements 1EnrichmentRAD511.41
402Hutchinson-gilford progeria syndromeEnrichmentERCC41.41
403Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentRTEL11.41
404Combined oxidative phosphorylation deficiency 32EnrichmentEME21.41
405Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.41
406Combined oxidative phosphorylation deficiency 24EnrichmentRTEL11.41
407Aortic aneurysm, familial thoracic 4EnrichmentNDE11.38
408Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.38
409Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.38
410Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP11.38
411Stromme syndromeEnrichmentCENPF1.38
412Lowry-wood syndromeEnrichmentCLASP11.38
413Nephronophthisis-like nephropathy 1EnrichmentRANGAP11.38
414Lissencephaly 1EnrichmentPAFAH1B11.38
415Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.38
416Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.38
417Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.38
418Houge-janssens syndrome 1EnrichmentPPP2R5D1.38
419Roifman syndromeEnrichmentCLASP11.38
420Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.38
421Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentNDE11.38
422Nephrotic syndrome, type 17EnrichmentNUP851.38
423Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentTAOK11.38
424Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.38
425Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.38
426Body mass index quantitative trait locus 19EnrichmentCENPO1.38
427Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.38
428Visceral myopathy 2EnrichmentNDE11.38
429Degenerative disc diseaseEnrichmentCENPP1.38
430Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.38
431Rnu4atac-opathyEnrichmentCLASP11.38
432Chronic atrial and intestinal dysrhythmiaEnrichmentSGO11.38
433Diamond-blackfan anemia 17EnrichmentRPS271.38
434Houge-janssens syndrome 3EnrichmentPPP2CA1.38
435Primary mediastinal large b-cell lymphomaEnrichmentXPO11.38
436Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.38
437Wolf-hirschhorn syndromeEnrichmentNSD21.38
438Breast adenocarcinomaEnrichmentTP531.38
439AstigmatismEnrichmentMCM71.34
440EnophthalmosEnrichmentMCM71.34
441MicrocephalyEnrichmentDYNC1H1, MCM7, NBN, NUF2, PSMC3, YWHAG1.34
442Pituitary stalk interruption syndromeEnrichmentFANCA, FANCG1.34
443Autosomal recessive cerebellar ataxiaEnrichmentERCC41.31
444Esophageal cancerEnrichmentTP531.31
445Prader-willi syndromeEnrichmentHERC21.31
446Squamous cell carcinoma, head and neckEnrichmentTP531.31
447Renal cell carcinoma, papillary, 1EnrichmentATM1.31
448Essential thrombocythemiaEnrichmentTP531.31
449Gallbladder cancerEnrichmentTP531.31
450Burkitt lymphomaEnrichmentPMS21.31
451Revesz syndromeEnrichmentTINF21.31
452Ovarian germ cell cancerEnrichmentFANCM1.31
453Xeroderma pigmentosum, complementation group cEnrichmentXPC1.31
454Vacterl association, x-linked, with or without hydrocephalusEnrichmentFANCL1.31
455Xeroderma pigmentosum, complementation group eEnrichmentDDB21.31
456Intellectual developmental disorder, x-linked, syndromic, cabezas typeEnrichmentCUL4B1.31
457Fanconi anemia, complementation group iEnrichmentFANCI1.31
458Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.31
459Waardenburg syndrome, type 4cEnrichmentPOLR2F1.31
460Familial adenomatous polyposis 2EnrichmentMUTYH1.31
461Charcot-marie-tooth disease, axonal, type 2b2EnrichmentPNKP1.31
462Gabriele-de vries syndromeEnrichmentYY11.31
463Immunodeficiency, common variable, 15EnrichmentRUVBL11.31
464Congenital disorder of deglycosylation 2EnrichmentNEIL11.31
465Pettigrew syndromeEnrichmentCUL4B1.31
466Mitochondrial complex i deficiency, nuclear type 10EnrichmentERCC81.31
467Dyskeratosis congenita, autosomal dominant 3EnrichmentTINF21.31
468Interstitial nephritis, karyomegalicEnrichmentFAN11.31
469Intellectual developmental disorder, x-linked, syndromic, pilorge typeEnrichmentFANCB1.31
470Fanconi anemia, complementation group eEnrichmentFANCE1.31
471Charcot-marie-tooth disease type 2b2EnrichmentPNKP1.31
472Microcephaly, seizures, and developmental delayEnrichmentPNKP1.31
473OligodendrogliomaEnrichmentPOT11.31
474Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.31
475Immunodeficiency with hyper-igm, type 5EnrichmentUNG1.31
476Developmental and epileptic encephalopathy 78EnrichmentYY11.31
477InsulinomaEnrichmentYY11.31
478Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.31
479Hao-fountain syndromeEnrichmentUSP71.31
480Anaplastic oligodendrogliomaEnrichmentPOT11.31
481Mismatch repair cancer syndrome 3EnrichmentMSH61.31
482Xeroderma pigmentosum group cEnrichmentXPC1.31
483Prenatal-onset spinal muscular atrophy with congenital bone fracturesEnrichmentASCC11.31
484Vacterl with hydrocephalusEnrichmentFANCB1.31
485Malignant germ cell tumor of ovaryEnrichmentFANCM1.31
486Xeroderma pigmentosum group eEnrichmentDDB21.31
487Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP1.31
488Branchiooculofacial syndromeEnrichmentEYA11.31
489Nemaline myopathy 2EnrichmentRIF11.31
490Autosomal dominant non-syndromic intellectual disabilityEnrichmentYWHAZ1.27
491Lymphoma, non-hodgkin, familialEnrichmentTP531.26
4922q23.1 microduplication syndromeEnrichmentORC41.25
493FarsightednessEnrichmentMCM71.25
494Isolated congenital microcephalyEnrichmentINO80, PNKP1.24
495Pulmonary fibrosisEnrichmentRTEL11.24
496Undetermined early-onset epileptic encephalopathyEnrichmentYWHAG1.22
497Niemann-pick disease, type c1EnrichmentAPBB11.21
498Niemann-pick diseaseEnrichmentAPBB11.21
499Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP11.21
500Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT1.21
501Band heterotopiaEnrichmentPAFAH1B11.21
502Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.21
503Dedifferentiated liposarcomaEnrichmentMDM21.21
504Tricuspid valve insufficiencyEnrichmentNDE11.21
505Well-differentiated liposarcomaEnrichmentMDM21.21
506Adult hepatocellular carcinomaEnrichmentTP531.21
507Primary hyperaldosteronismEnrichmentTP531.21
508Ventricular septal defectEnrichmentNSD21.21
509Developmental dysplasia of the hip 1EnrichmentPSMC31.17
510Patent ductus arteriosusEnrichmentPSMC31.17
511Leukemia, chronic myeloidEnrichmentABL11.17
512Moyamoya angiopathyEnrichmentABL11.17
513Aicardi-goutieres syndromeEnrichmentATRIP1.16
514RetinoblastomaEnrichmentFANCM1.14
515Waardenburg syndrome, type 2aEnrichmentPOLR2F1.14
516Combined cellular and humoral immune defects with granulomasEnrichmentINO801.14
517Trichothiodystrophy 1, photosensitiveEnrichmentERCC21.14
518De sanctis-cacchione syndromeEnrichmentERCC61.14
519Xeroderma pigmentosum, complementation group gEnrichmentERCC51.14
520Uv-sensitive syndrome 1EnrichmentERCC61.14
521Spastic paraplegia 7, autosomal recessiveEnrichmentMUTYH1.14
522Uv-sensitive syndrome 2EnrichmentERCC81.14
523Dyskeratosis congenita, autosomal dominant 6EnrichmentACD1.14
524Lynch syndrome 5EnrichmentMSH61.14
525Cerebrooculofacioskeletal syndrome 3EnrichmentERCC51.14
526Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.14
527Familial adenomatous polyposis 4EnrichmentMSH31.14
528Fanconi anemia, complementation group fEnrichmentFANCF1.14
529Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP1.14
530Umbilical herniaEnrichmentACTL6A1.14
531Wieacker-wolff syndromeEnrichmentCCNH1.14
532Premature ovarian failure 11EnrichmentERCC61.14
533Cellular ependymomaEnrichmentMSH21.14
534Tanycytic ependymomaEnrichmentMSH21.14
535Papillary ependymomaEnrichmentMSH21.14
536Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentMSH61.14
537Colon adenocarcinomaEnrichmentMSH61.14
538Xeroderma pigmentosum group gEnrichmentERCC51.14
539Clear cell ependymomaEnrichmentMSH21.14
540Melanoma, uvealEnrichmentBAP11.14
541Branchiootorenal syndrome 1EnrichmentEYA11.14
542Leukemia, acute myeloidEnrichmentFANCD2, RTEL1, TP531.13
543Immune deficiency diseaseEnrichmentATM1.12
544Myelodysplastic syndromeEnrichmentTP531.12
545Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.09
546CystinuriaEnrichmentCENPF1.09
547Ciliary dyskinesia, primary, 29EnrichmentCENPF1.09
548Ectodermal dysplasiaEnrichmentRANBP21.09
549Mitral valve insufficiencyEnrichmentNDE11.09
550Primary hyperparathyroidismEnrichmentCDKN1B1.09
551Branchiootorenal syndromeEnrichmentEYA11.07
552Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentNSD21.05
553Neural tube defectsEnrichmentRAD9B1.05
554ClubfootEnrichmentNSD21.05
555Protein-deficiency anemiaEnrichmentNSD21.05
556Lung cancer susceptibility 3EnrichmentTP531.02
557Periventricular nodular heterotopiaEnrichmentBRCA11.02
558CataractEnrichmentWRN1.02
559Gaucher disease, type iEnrichmentMSH61.02
560Deafness, autosomal recessive 1aEnrichmentERCC81.02
561Erythrocytosis, familial, 2EnrichmentFANCD21.02
562PilomatrixomaEnrichmentMUTYH1.02
563Macular degeneration, age-related, 5EnrichmentERCC61.02
564Barrett esophagusEnrichmentASCC11.02
565Aminoacylase 1 deficiencyEnrichmentACTB1.02
566Developmental and epileptic encephalopathy 12EnrichmentPNKP1.02
567Spastic paraplegia 47, autosomal recessiveEnrichmentDCLRE1B1.02
568Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.02
569CraniopharyngiomaEnrichmentERCC21.02
570Gjb2-related autosomal recessive nonsyndromic hearing lossEnrichmentERCC81.02
571Vacterl associationEnrichmentFANCL1.02
572Benign ependymomaEnrichmentMSH21.02
573Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.02
574Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP21.00
575Deafness, autosomal recessive 63EnrichmentANAPC151.00
576Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B11.00
577Lissencephaly 2EnrichmentNDE11.00
578Spinal muscular atrophyEnrichmentDYNC1H11.00
579Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP21.00
580Combined immunodeficiencyEnrichmentPOLD10.99
581Combined t cell and b cell immunodeficiencyEnrichmentPOLD10.99
582Combined t and b cell immunodeficiencyEnrichmentPOLD10.99
583Renal agenesis, bilateralEnrichmentEYA10.97
58446 xx gonadal dysgenesisEnrichmentSPIDR0.95
585Syndromic intellectual disabilityEnrichmentNSD20.94
586Capillary malformations, congenitalEnrichmentCCNH0.93
587Moebius syndromeEnrichmentREV3L0.93
588Dementia, lewy bodyEnrichmentVCP0.93
589Vater/vacterl associationEnrichmentFANCL0.93
590Von hippel-lindau syndromeEnrichmentFANCD20.93
591Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.93
592Familial adenomatous polyposis 1EnrichmentMUTYH0.93
593Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.93
594PolyneuropathyEnrichmentERCC50.93
595Nemaline myopathyEnrichmentRIF10.93
596Inflammatory myofibroblastic tumorEnrichmentRANBP20.92
597Intestinal pseudo-obstructionEnrichmentNDE10.92
598Lung squamous cell carcinomaEnrichmentCDKN2A0.92
599Heart diseaseEnrichmentABL10.89
600Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.86
601Dyskeratosis congenita, autosomal dominant 1EnrichmentTINF20.86
602Klippel-trenaunay-weber syndromeEnrichmentCCNH0.86
603Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH0.86
604Waardenburg syndrome, type 4aEnrichmentPOLR2F0.86
605Hemangioma, capillary infantileEnrichmentCCNH0.86
606Basal cell carcinoma 1EnrichmentCCNH0.86
607Inguinal herniaEnrichmentACTL6A0.86
608Waardenburg syndromeEnrichmentPOLR2F0.86
609MeningiomaEnrichmentBAP10.85
610Diamond-blackfan anemia 1EnrichmentTP530.82
611Interstitial lung disease 2EnrichmentRTEL10.81
612Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.81
613Perrault syndromeEnrichmentSGO20.81
614Waardenburg syndrome, type 1EnrichmentPOLR2F0.80
615Waardenburg syndrome, type 2eEnrichmentPOLR2F0.80
616Capillary malformation-arteriovenous malformation 1EnrichmentCCNH0.80
617Dyskeratosis congenita, autosomal dominant 2EnrichmentTINF20.80
618Hereditary hemorrhagic telangiectasiaEnrichmentCCNH0.80
619Hereditary clear cell renal cell carcinomaEnrichmentOGG10.80
620Parkinson's diseaseEnrichmentRFC10.76
621Diamond-blackfan anemiaEnrichmentRPS27, TP530.76
622Polycystic liver diseaseEnrichmentCDC25A0.75
623Autosomal dominant polycystic liver diseaseEnrichmentCDC25A0.75
624Gastroesophageal refluxEnrichmentACTL6A0.74
625Patent foramen ovaleEnrichmentPSMC30.73
626Inflammatory bowel disease 1EnrichmentERCC20.70
627Arteriovenous malformationEnrichmentCCNH0.70
628Progressive non-fluent aphasiaEnrichmentVCP0.70
629Hypotrichosis simplexEnrichmentERCC20.70
630Behavioral variant of frontotemporal dementiaEnrichmentVCP0.70
631Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL10.69
632AzoospermiaEnrichmentMCM80.68
633Parkinson disease, late-onsetEnrichmentRFC10.67
634Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP0.66
635Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.66
636Focal segmental glomerulosclerosisEnrichmentEYA10.65
637Myocardial infarctionEnrichmentPSMA60.65
638MicrophthalmiaEnrichmentMCM70.65
639Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.65
640Pectus excavatumEnrichmentERCC50.62
641Cardiomyopathy, familial hypertrophic, 9EnrichmentPMS20.62
642Atrial heart septal defectEnrichmentACTL6A0.62
643Interatrial communicationEnrichmentACTL6A0.62
644Systemic lupus erythematosusEnrichmentATRIP0.62
645Tooth agenesisEnrichmentSUMO10.62
646Type 2 diabetes mellitusEnrichmentWRN0.59
647Digeorge syndromeEnrichmentUFD10.59
648Rare genetic deafnessEnrichmentEYA1, EYA40.58
649Muscular dystrophyEnrichmentRIF10.58
650Hypertrophic cardiomyopathyEnrichmentNSD20.58
651MyopiaEnrichmentNDE10.56
652Alzheimer's diseaseEnrichmentVCP0.56
653OligospermiaEnrichmentSPRTN0.56
654Body mass index quantitative trait locus 11EnrichmentCENPO, NUDC0.55
655ThrombocytopeniaEnrichmentNSD20.54
656Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCENPP, MCM20.52
657Corpus callosum, agenesis ofEnrichmentERCC20.51
658Isolated corpus callosum agenesisEnrichmentERCC20.51
659Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentERCC20.51
660Male infertility with spermatogenesis disorderEnrichmentFANCM0.51
661Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.50
662Alzheimer disease, familial, 1EnrichmentVCP0.46
663Early infantile developmental and epileptic encephalopathyEnrichmentPNKP0.44
664Non-syndromic genetic deafnessEnrichmentEYA40.44
665Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentVCP0.42
666Congenital myopathyEnrichmentASCC30.42
667LeukodystrophyEnrichmentERCC20.41
668Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFANCM, XRCC20.39
669Centronuclear myopathyEnrichmentASCC10.39
670Spastic ataxiaEnrichmentERCC40.39
671Nonsyndromic hearing lossEnrichmentEYA40.39
672Cardiomyopathy, dilated, 1gEnrichmentPMS20.37
673Kallmann syndromeEnrichmentPOLR2F0.36
674Hirschsprung disease 1EnrichmentNUP980.34
675Meckel syndrome, type 1EnrichmentB9D20.34
676Severe covid-19EnrichmentCENPF0.34
677Mitochondrial diseaseEnrichmentTOP3A0.34
678Isolated joubert syndromeEnrichmentB9D20.33
679Peripheral nervous system diseaseEnrichmentDYNC1H10.31
680NeuropathyEnrichmentDYNC1H10.31
681Leigh syndrome, nuclearEnrichmentEME20.30
682NephronophthisisEnrichmentINCENP0.30
683Leigh diseaseEnrichmentEME20.28
684MyopathyEnrichmentDYNC1H10.24
685Charcot-marie-tooth diseaseEnrichmentDYNC1H10.24
686Fetal akinesia deformation sequence 1EnrichmentASCC10.22
687Mitochondrial complex i deficiency, nuclear type 1EnrichmentERCC80.21
688Distal arthrogryposisEnrichmentASCC10.19
689Joubert syndrome 1EnrichmentB9D20.18
690Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP10.15
691Congenital nervous system abnormalityEnrichmentERCC8, PNKP0.13
692Nervous system diseaseEnrichmentERCC8, PNKP0.13
693Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentVCP0.12
694Hereditary retinal dystrophyEnrichmentATRIP0.06
695Fundus dystrophyEnrichmentATRIP0.06
696Autism spectrum disorderEnrichmentDYNC1H10.04
697Leber plus diseaseEnrichmentUSP450.04
698Retinitis pigmentosaEnrichmentTFPT0.00

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