DNA Damage

No Pathway Network information available for DNA Damage

Pathways in the DNA Damage SuperPath

#NameSourceGenes
1DNA DamageCell Signaling Technology
(see all 296) (see less)

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

Disorders associated with DNA Damage SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ovarian cancerEnrichmentATM, BLM, BRCA1, BRCA2, BRIP1, BUB1B, CDKN1B, CDKN2A, CHEK2, ERCC2, ERCC3, ERCC4, FANCA, FANCD2, MRE11, MSH2, MSH6, MUTYH, NBN, PPM1D, RAD50, RB1, RECQL4, TP53, WRN, XPA, XPC11.26
2Hereditary breast carcinomaEnrichmentATM, BLM, BRCA1, BRCA2, BRIP1, CDC73, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, PPM1D, RAD50, RAD51, RAD54L, TP5311.11
3Breast cancerEnrichmentATM, BLM, BRCA1, BRCA2, BRIP1, CDC73, CHEK2, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PHB1, PPM1D, RAD50, RAD51, RAD54L, TP5311.09
4Gastric cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, TP5310.80
5Hereditary breast ovarian cancer syndromeEnrichmentATM, BLM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PLK2, RAD50, RAD51, RECQL, TP53, VRK110.79
6Inherited cancer-predisposing syndromeEnrichmentATM, BLM, BRCA1, BRCA2, BRIP1, CDC73, CDK4, CDKN1B, CDKN2A, CHEK2, ERCC3, FANCA, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, RAD50, RB1, RECQL, RECQL4, SMARCA4, TP5310.71
7Pancreatic cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, CDKN2A, CHEK2, ERCC4, NBN, RBBP8, TP5310.29
8Endometrial cancerEnrichmentATM, BLM, BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH6, MUTYH9.62
9Meier-gorlin syndrome 1EnrichmentCDC45, CDC6, CDT1, GMNN, MCM7, ORC1, ORC69.59
10Colorectal cancerEnrichmentATM, AURKA, BLM, BRCA1, BRCA2, BRIP1, BUB1B, CCND1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PTPN12, TP539.25
11Xeroderma pigmentosum, variant typeEnrichmentDDB2, ERCC2, ERCC3, ERCC4, POLH, XPA, XPC9.17
12Uterine corpus cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, MSH69.17
13Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, NBN8.47
14Fanconi anemia, complementation group aEnrichmentBRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCD2, RAD51, UBE2T7.37
15Bladder cancerEnrichmentATM, BRCA1, BRCA2, CDKN1A, CDKN2A, ERCC2, RB1, TP536.87
16Myeloma, multipleEnrichmentATM, AURKA, BRCA2, CCND1, CDKN2C, H3C1, LATS1, LIG4, RECQL4, TP536.51
17Colonic benign neoplasmEnrichmentATM, CHEK2, MLH1, MRE11, MUTYH6.25
18Histiocytoid hemangiomaEnrichmentFOS, FOSB, LMNA, VIM5.96
19Lynch syndrome 1EnrichmentATM, CHEK2, MLH1, MSH2, MSH65.96
20Prostate cancerEnrichmentATM, BRCA1, BRCA2, CHEK2, MSH6, NBN, TP535.64
21Li-fraumeni syndromeEnrichmentCDKN2A, CHEK2, MDM2, TP535.49
22HepatoblastomaEnrichmentBRCA2, ERCC2, FANCA, MSH2, RECQL4, TP535.37
23Multiple endocrine neoplasia, type iEnrichmentCDC73, CDKN1A, CDKN1B, CDKN2C5.13
24Seckel syndromeEnrichmentATR, ATRIP, CENPE, PRIM1, RBBP85.09
25Osteogenic sarcomaEnrichmentCHEK2, RB1, TP534.99
26Bone osteosarcomaEnrichmentCHEK2, RB1, TP534.99
27RhabdomyosarcomaEnrichmentBRCA1, BRCA2, MSH2, MSH6, TP534.77
28GliosarcomaEnrichmentATM, MGMT, MSH2, TACC3, TP534.77
29Melanoma, cutaneous malignant 1EnrichmentACD, CDK4, CDKN2A, MGMT, TERF2IP4.62
30Giant cell glioblastomaEnrichmentATM, MGMT, MSH2, TACC3, TP534.62
31Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentAPTX, MRE11, PNKP4.39
32Small cell cancer of the lungEnrichmentRB1, TP53, TP734.39
33Mismatch repair cancer syndrome 1EnrichmentMLH1, MSH2, MSH64.39
34Lynch syndrome 4EnrichmentMSH2, MSH6, RB14.39
35Familial colorectal cancerEnrichmentMLH1, MSH2, MUTYH, TP534.38
36Familial colorectal cancer type xEnrichmentATM, BRCA2, CHEK2, MUTYH4.19
37Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC3, ERCC44.00
38Lynch syndromeEnrichmentCHEK2, MLH1, MSH2, MSH63.60
39Primary ovarian insufficiencyEnrichmentCHEK2, ERCC1, FANCA, NBN, POLG, RAD54L, TP633.55
40Muir-torre syndromeEnrichmentMLH1, MSH23.32
41Xeroderma pigmentosum, complementation group aEnrichmentXPA, XPC3.32
42Diffuse midline glioma, h3 k27m-mutantEnrichmentBRCA2, BRIP13.32
43Li-fraumeni syndrome 1EnrichmentCHEK2, TP533.32
44SarcomaEnrichmentCHEK2, TP533.32
45Inflammatory breast carcinomaEnrichmentBRCA1, BRCA23.32
46Bilateral breast cancerEnrichmentBRCA1, BRCA23.32
47Malignant peritoneal mesotheliomaEnrichmentLATS1, LATS23.32
48Primary autosomal recessive microcephalyEnrichmentCDK6, CENPE, MCM7, MCPH1, NCAPD33.23
49Diffuse large b-cell lymphomaEnrichmentBRCA2, CHEK2, NBN, TP533.18
50Cornelia de lange syndrome 1EnrichmentRAD21, SMC1A, SMC33.11
51Tracheoesophageal fistula with or without esophageal atresiaEnrichmentADD1, BRCA2, BRIP13.11
52Cornelia de lange syndromeEnrichmentRAD21, SMC1A, SMC33.11
53Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP532.96
54Isolated tracheo-esophageal fistulaEnrichmentADD1, BRCA2, BRIP12.96
55Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT, HCFC12.85
56Dedifferentiated liposarcomaEnrichmentCDK4, MDM22.85
57Squamous cell carcinomaEnrichmentRB1, TP532.85
58AdenocarcinomaEnrichmentATM, TP532.85
59Colon adenocarcinomaEnrichmentMSH6, RAD54L2.85
60Well-differentiated liposarcomaEnrichmentCDK4, MDM22.85
61MicrocephalyEnrichmentDDX3X, KIF11, MCM7, NBN, SMARCA5, SMARCAL1, SMC1A, SPART, YWHAG2.83
62Lip and oral cavity carcinomaEnrichmentCDKN2A, RB1, TP532.71
63Premature menopauseEnrichmentERCC1, NBN, TP632.60
64Hutchinson-gilford progeria syndromeEnrichmentERCC4, LMNA2.56
65Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA1, BRCA22.56
66CholangiocarcinomaEnrichmentBRCA1, BRCA22.56
67Aicardi-goutieres syndrome 1EnrichmentATRIP, DCLRE1C2.56
68Mantle cell lymphomaEnrichmentATM, CCND12.56
69Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD502.56
70Lung cancer susceptibility 3EnrichmentCDK12, RB1, TP532.50
71Wilms tumor 1EnrichmentBRCA2, CHEK2, TRIM282.41
72Fanconi anemia, complementation group d2EnrichmentBRIP1, FANCD22.34
73Von hippel-lindau syndromeEnrichmentCCND1, FANCD22.34
74Breast-ovarian cancer, familial 2EnrichmentBRCA1, BRCA22.34
75GlioblastomaEnrichmentATM, MSH22.34
76Isolated congenital microcephalyEnrichmentMCPH1, PNKP, SMARCAL12.33
77Cerebrooculofacioskeletal syndrome 1EnrichmentERCC1, ERCC22.17
78Wilms tumor 5EnrichmentCHEK2, TRIM282.17
79Wiedemann-steiner syndromeEnrichmentSMC1A, SMC32.17
80Adrenocortical carcinomaEnrichmentCDKN2A, TP532.17
81Esophageal atresia/tracheoesophageal fistulaEnrichmentADD1, BRCA2, BRIP12.11
82Esophageal cancerEnrichmentTP53, WWOX2.03
83B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP532.03
84Hepatocellular carcinomaEnrichmentNBN, RAD50, TP531.93
85Glioma susceptibility 1EnrichmentH3C1, TP531.91
86Lymphoma, non-hodgkin, familialEnrichmentRAD54L, TP531.91
87Mosaic variegated aneuploidy syndromeEnrichmentBUB1B, BUB31.91
88TrichothiodystrophyEnrichmentERCC2, ERCC31.81
89Omenn syndromeEnrichmentDCLRE1C, LIG41.72
90MelanomaEnrichmentCDKN2A, CHEK21.72
91Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.66
92Rapp-hodgkin syndromeEnrichmentTP631.66
93Ankyloblepharon-ectodermal defects-cleft lip/palateEnrichmentTP631.66
94Perry syndromeEnrichmentDCTN11.66
95Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual developmentEnrichmentKIF111.66
96Bloom syndromeEnrichmentBLM1.66
97Intellectual developmental disorder, x-linked, syndromic, gustavson typeEnrichmentRBMX1.66
98Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A1.66
99Rapadilino syndromeEnrichmentRECQL41.66
100Holoprosencephaly 13, x-linkedEnrichmentSTAG21.66
101Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC31.66
102Split-hand/foot malformation 4EnrichmentTP631.66
103Seckel syndrome 2EnrichmentRBBP81.66
104Ankyloblepharon filiforme adnatum and cleft palateEnrichmentTP631.66
105Cerebrooculofacioskeletal syndrome 4EnrichmentERCC11.66
106Immunodeficiency 124, severe combinedEnrichmentNHEJ11.66
107Melanoma, cutaneous malignant 3EnrichmentCDK41.66
108Fanconi anemia, complementation group jEnrichmentBRIP11.66
109Parathyroid carcinomaEnrichmentCDC731.66
110Xeroderma pigmentosum, complementation group bEnrichmentERCC31.66
111Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.66
112Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC731.66
113Glioma susceptibility 3EnrichmentBRCA21.66
114Adult syndromeEnrichmentTP631.66
115Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.66
116Ataxia-oculomotor apraxia 4EnrichmentPNKP1.66
117Seckel syndrome 1EnrichmentATR1.66
118Microcephaly 12, primary, autosomal recessiveEnrichmentCDK61.66
119Mirror movements 2EnrichmentRAD511.66
120Schimke immunoosseous dysplasiaEnrichmentSMARCAL11.66
121Fanconi anemia, complementation group tEnrichmentUBE2T1.66
122Meier-gorlin syndrome 3EnrichmentORC61.66
123Accelerated tumor formationEnrichmentMDM21.66
124Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK51.66
125Premature chromatid separation traitEnrichmentBUB1B1.66
126Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD211.66
127Corpus callosum, agenesis of, with facial anomalies and robin sequenceEnrichmentDDX3X1.66
128Luo-schoch-yamamoto syndromeEnrichmentRNF21.66
129Ciliary dyskinesia, primary, 47, and lissencephalyEnrichmentTP731.66
130Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA11.66
131Fanconi anemia, complementation group rEnrichmentRAD511.66
132White-kernohan syndromeEnrichmentDDB11.66
133Fanconi anemia, complementation group bEnrichmentFANCB1.66
134Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.66
135Brunet-wagner neurodevelopmental syndromeEnrichmentRBL21.66
136Recon progeroid syndromeEnrichmentRECQL1.66
137Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC201.66
138Lessel-kubisch syndromeEnrichmentMDM21.66
139Mullegama-klein-martinez syndromeEnrichmentSTAG21.66
140Bone marrow failure syndrome 5EnrichmentTP531.66
141Spastic paraplegia 20, autosomal recessiveEnrichmentSPART1.66
142Frontotemporal dementia and/or amyotrophic lateral sclerosis 5EnrichmentCCNF1.66
143Meier-gorlin syndrome 4EnrichmentCDT11.66
144Intellectual developmental disorder, x-linked, syndromic, nascimento typeEnrichmentUBE2A1.66
145Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6EnrichmentRRM11.66
146Intellectual developmental disorder, x-linked, syndromic, snijders blok typeEnrichmentDDX3X1.66
147Papilloma of choroid plexusEnrichmentTP531.66
148AnisometropiaEnrichmentMCM71.66
149Basal cell carcinoma 7EnrichmentTP531.66
150Lynch syndrome 2EnrichmentMLH11.66
151Xeroderma pigmentosum, complementation group dEnrichmentERCC21.66
152Anaplastic thyroid carcinomaEnrichmentTP531.66
153Infant-type hemispheric gliomaEnrichmentBRCA11.66
154Pancreatic cancer 2EnrichmentBRCA21.66
155Syndromic x-linked intellectual disability nascimento typeEnrichmentUBE2A1.66
156Jawad syndromeEnrichmentRBBP81.66
157Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3EnrichmentTP631.66
158Houge-janssens syndrome 2EnrichmentPPP2R1A1.66
159Tumor predisposition syndrome 4EnrichmentCHEK21.66
160Limb-mammary syndromeEnrichmentTP631.66
161Immunodeficiency 54EnrichmentMCM41.66
162Deafness, autosomal dominant 70EnrichmentMCM21.66
163Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1EnrichmentTDP11.66
164Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.66
165Ataxia-telangiectasia-like disorder 1EnrichmentMRE111.66
166Xeroderma pigmentosum group bEnrichmentERCC31.66
167Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN11.66
168Xfe progeroid syndromeEnrichmentERCC41.66
169Rothmund-thomson syndrome, type 1EnrichmentANAPC11.66
170Neuroendocrine tumorEnrichmentCDKN1B1.66
171Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.66
172Mungan syndromeEnrichmentRAD211.66
173Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR1.66
174Premature ovarian failure 21EnrichmentTP631.66
175Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC1.66
176Ataxia-telangiectasia-like disorder 2EnrichmentPCNA1.66
177Endometrial serous adenocarcinomaEnrichmentATM1.66
178Cdc73-related disordersEnrichmentCDC731.66
179Ductal carcinoma in situEnrichmentTP531.66
180Meier-gorlin syndrome 5EnrichmentCDC61.66
181Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.66
182Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.66
183Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.66
184Ovarian small cell carcinomaEnrichmentSMARCA41.66
185Deafness, autosomal dominant 75EnrichmentTRRAP1.66
186Orofacial cleft 8EnrichmentTP631.66
187Mismatch repair cancer syndrome 2EnrichmentMSH21.66
188Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE1.66
189Ddx3x-related neurodevelopmental disorderEnrichmentDDX3X1.66
190Atypical werner syndromeEnrichmentLMNA1.66
191Xq25 microduplication syndromeEnrichmentSTAG21.66
192Meier-gorlin syndrome 6EnrichmentGMNN1.66
193Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.66
194Meier-gorlin syndrome 7EnrichmentCDC451.66
195Microcephaly 22, primary, autosomal recessiveEnrichmentNCAPD31.66
196Jansen-de vries syndromeEnrichmentPPM1D1.66
197Short stature and microcephaly with genital anomaliesEnrichmentCENPT1.66
198LeiomyosarcomaEnrichmentCHEK21.66
199Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP1.66
200Spinocerebellar ataxia, autosomal recessive 26EnrichmentXRCC11.66
201Multisystem proteinopathyEnrichmentVCP1.66
202Rectal benign neoplasmEnrichmentMSH21.66
203Thyroid gland undifferentiated carcinomaEnrichmentTP531.66
204Neuronopathy, distal hereditary motor, autosomal recessive 10EnrichmentVRK11.66
205Trilateral retinoblastomaEnrichmentRB11.66
206Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeEnrichmentBRCC31.66
207Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.66
208Cdkn2a cancer predispositionEnrichmentCDKN2A1.66
209B-lymphoblastic leukemia/lymphoma with etv6-runx1EnrichmentRECQL41.66
210Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.66
211Mandibuloacral dysplasiaEnrichmentLMNA1.66
212Atrioventricular blockEnrichmentLMNA1.66
213Ascending colon cancerEnrichmentMSH21.66
214Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.66
215Breast ductal carcinomaEnrichmentRAD54L1.66
216Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK11.66
217Tp63-related disordersEnrichmentTP631.66
218Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.66
219B-cell non-hodgkin lymphomaEnrichmentATM1.66
220Choroid plexus cancerEnrichmentTP531.66
221Ovarian cystEnrichmentMSH21.66
222Undifferentiated pleomorphic sarcomaEnrichmentRECQL41.66
223Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.66
224Wilms tumor 7EnrichmentTRIM281.66
225Childhood myocerebrohepatopathy spectrumEnrichmentPOLG1.66
226Xeroderma pigmentosum group dEnrichmentERCC21.66
227Esophagus squamous cell carcinomaEnrichmentWWOX1.66
228Microphthalmia/coloboma 13EnrichmentNHEJ11.66
229Malignant fibrous histiocytomaEnrichmentRECQL41.66
230Infection-induced acute-onset axonal neuropathyEnrichmentRCC11.66
231Pleomorphic xanthoastrocytomaEnrichmentTP531.66
232Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA1.66
233Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR1.66
234Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeEnrichmentCDKN1C1.66
235Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.66
236Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA1.66
237Premature agingEnrichmentVIM1.66
238Microcephaly-complex motor and sensory axonal neuropathy syndromeEnrichmentVRK11.66
239Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.66
240Spinocerebellar ataxia with epilepsyEnrichmentPOLG1.66
241Recessive mitochondrial ataxia syndromeEnrichmentPOLG1.66
242X-linked intellectual disability-hypotonia-movement disorder syndromeEnrichmentDDX3X1.66
243Primary peritoneal carcinomaEnrichmentBRCA11.66
244Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA1.66
2451p21.3 microdeletion syndromeEnrichmentDPYD1.66
246LaminopathyEnrichmentLMNA1.66
247Lung oat cell carcinomaEnrichmentRB11.66
248Leukemia, acute lymphoblasticEnrichmentCDKN2A, NBN1.64
249Acute promyelocytic leukemiaEnrichmentNPM1, NUMA11.50
250Nk-cell enteropathyEnrichmentAURKB, CHEK21.50
251Lung cancerEnrichmentBRCA1, CHEK2, MLH11.49
252Severe combined immunodeficiencyEnrichmentDCLRE1C, LIG4, NHEJ11.46
253MedulloblastomaEnrichmentBRCA2, WRN1.44
254Male infertility with spermatogenesis disorderEnrichmentAURKC, TP631.38
255Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.36
256Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1EnrichmentTP631.36
257Adrenocortical carcinoma, hereditaryEnrichmentTP531.36
258Baller-gerold syndromeEnrichmentRECQL41.36
259Stromme syndromeEnrichmentCENPF1.36
260Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyEnrichmentCEP551.36
261Chromosome 2q35 duplication syndromeEnrichmentNHEJ11.36
262Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentKIF111.36
263Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.36
264Ogden syndromeEnrichmentNAA101.36
265Microphthalmia, syndromic 1EnrichmentNAA101.36
266Ebstein anomalyEnrichmentCDK81.36
267Xeroderma pigmentosum, complementation group fEnrichmentERCC41.36
268Xeroderma pigmentosum, complementation group cEnrichmentXPC1.36
269Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphismEnrichmentBRCC31.36
270Cervical cancerEnrichmentTP531.36
271Cornelia de lange syndrome 2EnrichmentSMC1A1.36
272Rothmund-thomson syndrome, type 2EnrichmentRECQL41.36
273Xeroderma pigmentosum, complementation group eEnrichmentDDB21.36
274Intellectual developmental disorder, x-linked, syndromic, shashi typeEnrichmentRBMX1.36
275Fanconi anemia, complementation group iEnrichmentPOLG1.36
276Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.36
277Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.36
278Hyperparathyroidism 1EnrichmentCDC731.36
279Heart-hand syndrome, slovenian typeEnrichmentLMNA1.36
280Pontocerebellar hypoplasia, type 1aEnrichmentVRK11.36
281Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.36
282Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.36
283Familial adenomatous polyposis 2EnrichmentMUTYH1.36
284Developmental and epileptic encephalopathy 28EnrichmentWWOX1.36
285Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentCDKN1C1.36
286Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.36
287Dubowitz syndromeEnrichmentLIG41.36
288Charcot-marie-tooth disease, axonal, type 2b2EnrichmentPNKP1.36
289Developmental and epileptic encephalopathy 50EnrichmentCAD1.36
290Lig4 syndromeEnrichmentLIG41.36
291Chromosome 13q14 deletion syndromeEnrichmentRB11.36
292Lymphoma, hodgkin, classicEnrichmentTP531.36
293Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.36
294Spinocerebellar ataxia, autosomal recessive 12EnrichmentWWOX1.36
295Congenital heart defects, multiple types, 3EnrichmentCHEK21.36
296Encephalopathy, acute, infection-induced 10EnrichmentTPT11.36
297Cardiomyopathy, dilated, 1dEnrichmentLMNA1.36
298Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentDCLRE1C1.36
299Restrictive dermopathy 2EnrichmentLMNA1.36
300Gabriele-de vries syndromeEnrichmentYY11.36
301Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.36
302Dystonia 30EnrichmentPTPRA1.36
303Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.36
304Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1EnrichmentPOLG1.36
305Fanconi anemia, complementation group sEnrichmentBRCA11.36
306Cardiac valvular dysplasia, x-linkedEnrichmentATM1.36
307Werner syndromeEnrichmentWRN1.36
308Pancreatic cancer 4EnrichmentBRCA11.36
309Ovarian cancer 1EnrichmentBRIP11.36
310Intellectual developmental disorder, x-linked, syndromic, pilorge typeEnrichmentFANCB1.36
311Bladder exstrophyEnrichmentTP631.36
312Fanconi anemia, complementation group qEnrichmentERCC41.36
313Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.36
314Microcephaly and chorioretinopathy 1EnrichmentKIF111.36
315Kala-azar 2EnrichmentGSTP11.36
316Charcot-marie-tooth disease type 2b2EnrichmentPNKP1.36
317Microcephaly, seizures, and developmental delayEnrichmentPNKP1.36
318Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTP53BP11.36
319Xeroderma pigmentosum group fEnrichmentERCC41.36
320Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.36
321Cataract 30EnrichmentVIM1.36
322Syndromic x-linked intellectual disability shashi typeEnrichmentRBMX1.36
323Lipodystrophy, familial partial, type 1EnrichmentLMNA1.36
324Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM11.36
325Al kaissi syndromeEnrichmentCDK101.36
326Congenital fibrosarcomaEnrichmentTP531.36
327High grade gliomaEnrichmentATM1.36
328Fanconi anemia, complementation group d1EnrichmentBRCA21.36
329Developmental and epileptic encephalopathy 78EnrichmentYY11.36
330Otosclerosis 12EnrichmentSMARCA41.36
331Coffin-siris syndrome 4EnrichmentSMARCA41.36
332Cervix carcinomaEnrichmentTP531.36
333Hodgkin's lymphomaEnrichmentTP531.36
334InsulinomaEnrichmentYY11.36
335T-cell prolymphocytic leukemiaEnrichmentATM1.36
336Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.36
337Polg-related disordersEnrichmentPOLG1.36
338Autosomal recessive progressive external ophthalmoplegiaEnrichmentPOLG1.36
339Acute myeloid leukemia without maturationEnrichmentNPM11.36
340Dyskeratosis congenita, digenicEnrichmentTYMS1.36
341Mismatch repair cancer syndrome 3EnrichmentMSH61.36
342Congenital pontocerebellar hypoplasia type 1EnrichmentVRK11.36
343Xeroderma pigmentosum group cEnrichmentXPC1.36
344Lymphatic malformation 10EnrichmentMCPH11.36
345Fissured tongueEnrichmentTP631.36
346Houge-janssens syndrome 3EnrichmentPPP2CA1.36
347Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK81.36
348Peritoneum cancerEnrichmentBRCA11.36
349Lymphomatoid papulosisEnrichmentNPM11.36
350Distal hereditary motor neuropathy type 7EnrichmentDCTN11.36
351Microcephaly and chorioretinopathy 3EnrichmentTP53BP11.36
352Familial partial lipodystrophyEnrichmentLMNA1.36
353Vacterl with hydrocephalusEnrichmentFANCB1.36
354Familial retinoblastomaEnrichmentRB11.36
355Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.36
356Xeroderma pigmentosum group eEnrichmentDDB21.36
357Pleomorphic rhabdomyosarcomaEnrichmentTP531.36
358Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM11.36
359Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP1.36
360Neuroendocrine tumor of pancreasEnrichmentBRCA21.36
361Leukemia, acute myeloidEnrichmentFANCD2, NPM1, TP531.25
362Semilobar holoprosencephalyEnrichmentSMC1A, STAG21.24
363Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentLMNA, VCP1.20
364Dyskeratosis congenitaEnrichmentNPM1, TYMS1.20
365RetinoblastomaEnrichmentRB11.19
366Ataxia-telangiectasiaEnrichmentATM1.19
367Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsEnrichmentATRIP1.19
368Nijmegen breakage syndromeEnrichmentNBN1.19
369Polycythemia veraEnrichmentATM1.19
370Trichothiodystrophy 1, photosensitiveEnrichmentERCC21.19
371Restrictive dermopathy 1EnrichmentLMNA1.19
372Dihydropyrimidine dehydrogenase deficiencyEnrichmentDPYD1.19
373Chilblain lupus 1EnrichmentATRIP1.19
374Spastic paraplegia 7, autosomal recessiveEnrichmentMUTYH1.19
375Nasopharyngeal carcinomaEnrichmentTP531.19
376Lipodystrophy, familial partial, type 2EnrichmentLMNA1.19
377Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentDCLRE1C1.19
378Woolly hair, autosomal recessive 3EnrichmentRB11.19
379Dyskeratosis congenita, autosomal dominant 6EnrichmentACD1.19
380Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.19
381Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.19
382Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.19
383Tumor predisposition syndrome 1EnrichmentBRCA21.19
384Lynch syndrome 5EnrichmentMSH61.19
385Pontocerebellar hypoplasia, type 1bEnrichmentVRK11.19
386Arthrogryposis multiplex congenita 6EnrichmentRIF11.19
387Hypotrichosis 8EnrichmentRB11.19
388Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP1.19
389Koolen-de vries syndromeEnrichmentATM1.19
390Wieacker-wolff syndromeEnrichmentCCNH1.19
391Chilblain lupusEnrichmentATRIP1.19
392Atypical teratoid rhabdoid tumorEnrichmentTP531.19
393Anaplastic astrocytomaEnrichmentTP531.19
394Cellular ependymomaEnrichmentMSH21.19
395Tanycytic ependymomaEnrichmentMSH21.19
396Papillary ependymomaEnrichmentMSH21.19
397Parathyroid adenomaEnrichmentCDC731.19
398Bap1 tumor predisposition syndromeEnrichmentBRCA21.19
399Restrictive dermopathyEnrichmentLMNA1.19
400Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentDCLRE1C1.19
401Familial isolated hyperparathyroidismEnrichmentCDC731.19
402Respiratory failureEnrichmentTP731.19
403Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentMSH61.19
404Idiopathic camptocormiaEnrichmentPOLG1.19
405Isolated anophthalmia-microphthalmia syndromeEnrichmentNHEJ11.19
406Clear cell ependymomaEnrichmentMSH21.19
407Congenital nervous system abnormalityEnrichmentMCPH1, PNKP, POLG, SMC1A, WWOX1.08
408Nervous system diseaseEnrichmentMCPH1, PNKP, POLG, SMC1A, WWOX1.08
409Mirror movements 1EnrichmentRAD511.07
410Trichorhinophalangeal syndrome, type iiEnrichmentRAD211.07
411Gaucher disease, type iEnrichmentMSH61.07
412CystinuriaEnrichmentCENPF1.07
413Nemaline myopathy 2EnrichmentRIF11.07
414ChordomaEnrichmentBRCA21.07
415Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentLMNA1.07
416Erythrocytosis, familial, 2EnrichmentFANCD21.07
417Thyroid cancer, nonmedullary, 1EnrichmentTP531.07
418AstigmatismEnrichmentMCM71.07
419Microtia-anotiaEnrichmentLMNA1.07
420Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentCCND21.07
421PilomatrixomaEnrichmentMUTYH1.07
422Ciliary dyskinesia, primary, 29EnrichmentCENPF1.07
423Developmental and epileptic encephalopathy 12EnrichmentPNKP1.07
424Congenital generalized lipodystrophyEnrichmentFOS1.07
425Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.07
426EnophthalmosEnrichmentMCM71.07
427Emery-dreifuss muscular dystrophyEnrichmentLMNA1.07
428Lung sarcomatoid carcinomaEnrichmentTP531.07
429Generalized epilepsyEnrichmentPOLG1.07
430Embryonal rhabdomyosarcomaEnrichmentTP531.07
431CraniopharyngiomaEnrichmentERCC21.07
432Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.07
433Hemoglobin c diseaseEnrichmentCHEK21.07
434Charcot-marie-tooth hereditary neuropathyEnrichmentVRK11.07
435Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentTP53BP11.07
436Sick sinus syndromeEnrichmentLMNA1.07
437Silver-russell syndrome due to a point mutationEnrichmentCDKN1C1.07
438Primary hyperparathyroidismEnrichmentCDKN1B1.07
439Benign ependymomaEnrichmentMSH21.07
440Cleft lip and alveolusEnrichmentTP631.07
441Thrombotic microangiopathyEnrichmentATRIP1.07
442Oculomotor apraxiaEnrichmentATM1.07
443Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK11.07
444Pseudomyogenic hemangioendotheliomaEnrichmentFOSB1.07
445Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, DDX3X1.05
446Autosomal dominant non-syndromic intellectual disabilityEnrichmentBRSK2, PPM1D, YWHAZ1.02
447Muscular dystrophyEnrichmentLMNA, RIF11.02
448Developmental and epileptic encephalopathy 1EnrichmentCAD, WWOX0.99
449Capillary malformations, congenitalEnrichmentCCNH0.98
450Dementia, lewy bodyEnrichmentVCP0.98
451Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentATRIP0.98
452Cockayne syndrome aEnrichmentERCC40.98
453Microcephaly 1, primary, autosomal recessiveEnrichmentMCPH10.98
454Rhabdomyosarcoma 2EnrichmentTP530.98
455Atrioventricular septal defectEnrichmentSMARCAL10.98
456Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B0.98
457Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisEnrichmentPOLG0.98
458Familial adenomatous polyposis 1EnrichmentMUTYH0.98
459Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.98
460Autosomal recessive cerebellar ataxiaEnrichmentERCC40.98
461LymphomaEnrichmentTP530.98
462Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA0.98
463Acute myeloid leukemia with maturationEnrichmentNPM10.98
464Spinal muscular atrophyEnrichmentVRK10.98
465Vascular dementiaEnrichmentATRIP0.98
466Acute megakaryocytic leukemiaEnrichmentTP530.98
467Cleft upper lipEnrichmentTP630.98
468Autosomal thrombocytopenia with normal plateletsEnrichmentMASTL0.98
469Genetic motor neuron diseaseEnrichmentDCTN10.98
470FarsightednessEnrichmentMCM70.98
471Endometrial stromal sarcomaEnrichmentYWHAE0.98
472Cockayne syndrome bEnrichmentERCC10.91
473Klippel-trenaunay-weber syndromeEnrichmentCCNH0.91
474Kabuki syndrome 1EnrichmentBRCA20.91
475Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA0.91
476Machado-joseph diseaseEnrichmentPOLG0.91
477Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentPOLG0.91
478Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH0.91
479Hemangioma, capillary infantileEnrichmentCCNH0.91
480Mitochondrial dna depletion syndrome 1EnrichmentPOLG0.91
481Basal cell carcinoma 1EnrichmentCCNH0.91
482Pontocerebellar hypoplasia, type 1eEnrichmentVRK10.91
483Mitochondrial dna depletion syndromeEnrichmentPOLG0.91
484Clear cell renal cell carcinomaEnrichmentATM0.91
485Hoyeraal-hreidarsson syndromeEnrichmentACD0.91
486Breast adenocarcinomaEnrichmentTP530.91
487Lung squamous cell carcinomaEnrichmentCDKN2A0.91
488Kidney clear cell sarcomaEnrichmentYWHAE0.91
489Syndromic rod-cone dystrophyEnrichmentKIF110.91
490Severe covid-19EnrichmentCENPF, RECQL40.88
491Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCCNF, DCTN1, VCP0.88
492Bethlem myopathy 1aEnrichmentLMNA0.84
493Mitochondrial dna depletion syndrome 4aEnrichmentPOLG0.84
494Squamous cell carcinoma, head and neckEnrichmentTP530.84
495Capillary malformation-arteriovenous malformation 1EnrichmentCCNH0.84
496Renal cell carcinoma, papillary, 1EnrichmentATM0.84
497Essential thrombocythemiaEnrichmentTP530.84
498Cockayne syndromeEnrichmentERCC40.84
499Gallbladder cancerEnrichmentTP530.84
500Hereditary hemorrhagic telangiectasiaEnrichmentCCNH0.84
501Spermatogenic failure 5EnrichmentAURKC0.79
502Isolated growth hormone deficiency, type iaEnrichmentBRCA20.79
503Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC10.79
504Ewing sarcomaEnrichmentSMARCA50.79
505Rett syndrome, congenital variantEnrichmentSMC1A0.79
506Mitochondrial dna depletion syndrome 4bEnrichmentPOLG0.79
507Congenital muscular dystrophyEnrichmentLMNA0.79
508NeuroblastomaEnrichmentSMARCA40.79
509MyocarditisEnrichmentLMNA0.79
510Isolated split hand-split foot malformationEnrichmentTP630.79
511Inflammatory bowel disease 1EnrichmentERCC20.74
512PolydactylyEnrichmentBRCA20.74
513Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA0.74
514Leukemia, acute lymphoblastic 3EnrichmentERCC40.74
515Arteriovenous malformationEnrichmentCCNH0.74
516Adult hepatocellular carcinomaEnrichmentTP530.74
517Progressive non-fluent aphasiaEnrichmentVCP0.74
518Primary hyperaldosteronismEnrichmentTP530.74
519Ventricular septal defectEnrichmentSMARCA40.74
520Autosomal dominant cerebellar ataxiaEnrichmentPOLG0.74
521Hypotrichosis simplexEnrichmentERCC20.74
522Behavioral variant of frontotemporal dementiaEnrichmentVCP0.74
523Juvenile amyotrophic lateral sclerosisEnrichmentVRK10.74
524Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentPOLG0.74
525Amyotrophic lateral sclerosis 1EnrichmentDCTN10.70
526Cataract 30, multiple typesEnrichmentVIM0.70
527Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP0.70
528Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.70
529Aplastic anemiaEnrichmentNBN0.70
530Aicardi-goutieres syndromeEnrichmentATRIP0.70
531Nemaline myopathyEnrichmentRIF10.70
532Cerebral palsyEnrichmentBRCA2, SMARCA40.68
533Immune deficiency diseaseEnrichmentATM0.67
534Frontotemporal dementia 1EnrichmentDCTN10.67
535Myelodysplastic syndromeEnrichmentTP530.67
536Atrial heart septal defectEnrichmentSMARCA40.67
537Interatrial communicationEnrichmentSMARCA40.67
538Specific learning disabilityEnrichmentYWHAG0.67
539EpilepsyEnrichmentAPTX, WWOX0.66
540Charcot-marie-tooth diseaseEnrichmentDCTN1, LMNA0.65
541Cardiac conduction defectEnrichmentLMNA0.63
542Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA0.63
543Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA0.63
544Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA0.63
545Diaphragmatic hernia, congenitalEnrichmentCDK80.60
546Hypercholesterolemia, familial, 1EnrichmentSMARCA40.60
547Alzheimer's diseaseEnrichmentVCP0.60
548OligospermiaEnrichmentCDK160.60
549Periventricular nodular heterotopiaEnrichmentBRCA10.58
550Heart diseaseEnrichmentRECQL40.58
551CataractEnrichmentWRN0.58
552Cleft lip/palateEnrichmentTP630.58
553Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA0.58
554Pituitary stalk interruption syndromeEnrichmentFANCA0.58
55546,xy partial gonadal dysgenesisEnrichmentWWOX0.58
556Coffin-siris syndrome 1EnrichmentSMARCA40.55
557Renal cell carcinoma, nonpapillaryEnrichmentATM0.55
558Corpus callosum, agenesis ofEnrichmentERCC20.55
559Atypical hemolytic-uremic syndromeEnrichmentSMARCAL10.55
560Familial hypercholesterolemiaEnrichmentSMARCA40.55
561Isolated corpus callosum agenesisEnrichmentERCC20.55
562Rare genetic intellectual disabilityEnrichmentDDX3X0.55
563Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentERCC20.55
564Complex neurodevelopmental disorderEnrichmentCDK8, CSNK2A1, PPP2CA, RNF20.54
565Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDDX3X0.53
566Hydrocephalus, congenital, 1EnrichmentCDK80.53
567Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA0.53
568Alzheimer disease, familial, 1EnrichmentVCP0.50
569Hypertension, essentialEnrichmentADD10.50
570Cleft palate, isolatedEnrichmentSMARCA40.50
571Cardiomyopathy, dilated, 1eEnrichmentLMNA0.50
572Polycystic liver diseaseEnrichmentCDC25A0.50
573Autosomal dominant polycystic liver diseaseEnrichmentCDC25A0.50
574Alobar holoprosencephalyEnrichmentSTAG20.50
575Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMCM2, TRRAP0.50
576Familial isolated dilated cardiomyopathyEnrichmentLMNA, TMPO0.49
577Beckwith-wiedemann syndromeEnrichmentCDKN1C0.48
578Heart, malformation ofEnrichmentCDK80.48
579Pontocerebellar hypoplasiaEnrichmentVRK10.48
580Neuromuscular diseaseEnrichmentLMNA0.48
581Early infantile developmental and epileptic encephalopathyEnrichmentPNKP0.48
582Undetermined early-onset epileptic encephalopathyEnrichmentWWOX, YWHAG0.46
583Williams-beuren syndromeEnrichmentCDKN1C0.45
584LeukodystrophyEnrichmentERCC20.45
585Focal segmental glomerulosclerosisEnrichmentSMARCAL10.45
586Cardiomyopathy, dilated, 1aEnrichmentLMNA0.43
587LissencephalyEnrichmentNBN0.43
588MicrophthalmiaEnrichmentMCM70.41
589Diamond-blackfan anemia 1EnrichmentTP530.40
590Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA0.39
591Brugada syndromeEnrichmentLMNA0.36
592StrabismusEnrichmentSPART0.35
593Differentiated thyroid carcinomaEnrichmentPCM10.33
594Long qt syndromeEnrichmentLMNA0.30
595Peripheral nervous system diseaseEnrichmentLMNA0.30
596NeuropathyEnrichmentLMNA0.30
597NephronophthisisEnrichmentINCENP0.29
598Left ventricular noncompactionEnrichmentLMNA0.27
599Non-syndromic x-linked intellectual disabilityEnrichmentHCFC10.26
600Diamond-blackfan anemiaEnrichmentTP530.26
601Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesEnrichmentPOLG0.25
602Systemic lupus erythematosusEnrichmentATRIP0.24
603Benign epilepsy with centrotemporal spikesEnrichmentWWOX0.22
604Type 2 diabetes mellitusEnrichmentWRN0.22
605Hereditary spastic paraplegiaEnrichmentPOLG0.22
606Centralopathic epilepsyEnrichmentWWOX0.21
607Nephrotic syndromeEnrichmentSMARCAL10.21
608Hypertrophic cardiomyopathyEnrichmentPOLG0.21
609West syndromeEnrichmentWWOX0.21
610Body mass index quantitative trait locus 11EnrichmentPOLG0.17
611Spastic ataxiaEnrichmentERCC40.16
612Autism spectrum disorderEnrichmentCSNK2A1, SMC30.16
613Leigh syndrome, nuclearEnrichmentPOLG0.11
614Dilated cardiomyopathyEnrichmentLMNA0.08
615Mitochondrial diseaseEnrichmentPOLG0.07
616Hereditary retinal dystrophyEnrichmentATRIP, KIF110.01
617Fundus dystrophyEnrichmentATRIP, KIF110.01
618Retinitis pigmentosaEnrichmentKIF110.00

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