Gene expression (Transcription)

Pathway network for the Gene expression (Transcription) SuperPath

Sources:
  • Reactome

Pathways in the Gene expression (Transcription) SuperPath

#NameSourceGenes
1Gene expression (Transcription)Reactome
(see all 1569) (see less)
2RNA Polymerase II TranscriptionReactome
(see all 1348) (see less)
3Generic Transcription PathwayReactome
(see all 1225) (see less)

Gene overlap in member pathways for Gene expression (Transcription) SuperPath

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

Disorders associated with Gene expression (Transcription) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ovarian cancerEnrichmentAKT1, AR, ATM, BARD1, BLM, BRCA1, BRIP1, CDKN1B, CDKN2A, CHEK2, CTNNB1, EGFR, ERBB2, ERCC2, ERCC3, FANCC, FANCD2, KIT, KRAS, MET, MRE11, MSH2, NBN, PMS2, PPM1D, PTEN, RAD50, RAD51D, RB1, RET, SMARCB1, TP53, TSC2, WRN16.00
2Gastric cancerEnrichmentATM, BARD1, BRCA1, BRIP1, CASP10, CDK4, CDKN2A, CHEK2, ERBB2, FANCI, KRAS, MLH1, MSH2, NBN, PMS2, PTEN, RAD51D, SMAD4, STK11, TP539.85
3Inherited cancer-predisposing syndromeEnrichmentATM, BARD1, BLM, BRCA1, BRIP1, CDK4, CDKN1B, CDKN2A, CHEK2, EGFR, ERCC3, EZH2, FANCC, KIT, MAX, MEN1, MET, MLH1, MRE11, MSH2, NBN, PMS2, PTEN, PTPN11, RAD50, RAD51D, RB1, RET, RUNX1, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, TP53, TSC1, TSC29.63
4Colorectal cancerEnrichmentAKT1, ARID1A, ATM, AURKA, BLM, BRCA1, BRIP1, CCND1, CHEK2, CTNNB1, EP300, ERBB2, FANCC, FANCI, MET, MLH1, MSH2, MT-CO1, PMS2, PPARG, RAD51D, RBFOX1, RET, RMI1, SMAD4, SOX9, SRC, TP538.95
5Hereditary breast carcinomaEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, BRIP1, CDC73, CHEK2, ESR1, KRAS, MLH1, MSH2, NBN, PPM1D, PTEN, RAD50, RAD51, RAD51D, RET, TP538.88
6Breast cancerEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, BRIP1, CDKN2B, CHEK2, ESR1, FANCC, IL2, JUN, KRAS, MLH1, MRE11, MSH2, NBN, PMS2, PPM1D, PTEN, RAD50, RAD51, RAD51D, RET, TP538.42
7Bladder cancerEnrichmentARID1A, ATM, BRCA1, CDKN1A, CDKN2A, CTNNB1, EGFR, ERBB2, ERCC2, KRAS, PTEN, RB1, TP53, TSC17.33
8Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BLM, BRCA1, BRIP1, CHEK2, KRAS, MEN1, MLH1, MRE11, MSH2, NBN, PLK2, PMS2, PTEN, RAD50, RAD51, RAD51D, TP536.83
9Myeloma, multipleEnrichmentATM, AURKA, BARD1, CCND1, CREBBP, DNMT3A, H3C1, HDAC4, KMT2C, KMT2D, KRAS, MGA, NCOR2, RXRA, SGK1, TCF3, TET2, TET3, TP53, YAP15.68
10Autism spectrum disorderEnrichmentACTL6B, ARID1B, AUTS2, CDK13, CSNK2A1, CSNK2B, EED, EHMT1, GRIN2B, KAT6A, KDM5B, KMT2A, KMT2C, MECP2, MEF2C, NR2F1, NR3C2, NR4A2, PTEN, PTPN11, SATB2, SETD1A, SMARCB1, TCF12, TNRC6B, TSC25.50
11Pancreatic cancerEnrichmentATM, BRCA1, BRIP1, CDKN2A, CHEK2, KRAS, NBN, RBBP8, SMAD4, STK11, TP535.37
12Cox deficiency, benign infantile mitochondrial myopathyEnrichmentCOX4I1, COX5A, COX6A2, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO35.10
13Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE15.02
14Lip and oral cavity carcinomaEnrichmentABL1, CDKN2A, EGFR, KIT, RB1, STK11, TP534.60
15Complex neurodevelopmental disorderEnrichmentACTL6A, ACTL6B, AGO1, AGO2, CDK8, CNOT1, CNOT3, CPSF3, CSNK2A1, CTR9, GRIN2B, H4C3, H4C5, H4C9, HTT, KMT2B, MED13, MED27, NR4A2, PPP2CA, PSMD12, RNF2, RORA, SETD1A, TAF4, TCF7L2, TNRC6B, ZNF6994.59
16Endometrial cancerEnrichmentATM, BARD1, BLM, BRCA1, CHEK2, MLH1, MSH2, PMS2, PTEN4.38
17Tetralogy of fallotEnrichmentCITED2, GATA4, HEY2, JAG1, MT-CO1, MT-CO2, MT-CO3, NKX2-5, NOTCH1, RET4.32
18Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, BRIP1, CHEK2, MSH2, NBN, RAD51D4.29
19Hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, MET, NBN, PMS2, RAD50, RET, TP53, VDR4.19
20Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC24.18
21Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC24.18
22Lynch syndrome 1EnrichmentATM, CHEK2, MLH1, MSH2, PMS2, RAD51D4.09
23Leukemia, acute myeloidEnrichmentCEBPA, DNMT3A, FANCD2, GATA2, KIT, KMT2A, KRAS, NPM1, NUP214, RUNX1, SF3B1, SRSF2, TET2, TP534.04
24Diffuse large b-cell lymphomaEnrichmentCHEK2, CREBBP, DNMT3A, FOXO1, NBN, PMS2, PTEN, TBL1XR1, TP533.95
25Uterine corpus cancerEnrichmentATM, BRCA1, BRIP1, CHEK2, MSH2, PTEN3.78
26Multiple endocrine neoplasia, type iEnrichmentCDC73, CDKN1A, CDKN1B, CDKN2B, MEN13.77
27Congenital generalized lipodystrophyEnrichmentAGPAT2, CAVIN1, FOS, PPARG3.75
28LymphomaEnrichmentKMT2D, PMS2, PTPN11, TP533.51
29Acute megakaryocytic leukemiaEnrichmentGATA1, KMT2A, PTEN, TP533.51
30HemimegalencephalyEnrichmentAKT3, MTOR, PTEN, RHEB3.51
31Heart, malformation ofEnrichmentBRF1, CDK13, CDK8, GATA4, JAG1, MAPK1, SMAD6, TBX53.33
32Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, TP53, TSC1, TSC23.26
33Prostate cancerEnrichmentAR, ATM, BRCA1, CHEK2, NBN, PTEN, RAD51D, TP53, ZFHX33.13
34Tuberous sclerosis 1EnrichmentIFNG, TSC1, TSC23.13
35Osteogenic sarcomaEnrichmentCHEK2, RB1, TP533.13
36Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C93.13
37Bone osteosarcomaEnrichmentCHEK2, RB1, TP533.13
38Lung cancer susceptibility 3EnrichmentCDK12, EGFR, ERBB2, KRAS, RB1, TP533.07
39Li-fraumeni syndromeEnrichmentCDKN2A, CHEK2, MDM2, TP533.07
40Acute promyelocytic leukemiaEnrichmentFIP1L1, NABP1, NPM1, PML, RARA, TBL1XR13.05
41Familial colorectal cancerEnrichmentMLH1, MSH2, MT-CO1, MT-CO2, TP532.99
42CraniosynostosisEnrichmentGLI2, GLI3, GRIN2B, KAT6A, SMAD6, TCF12, TFAP2B2.89
43Adenoid cystic carcinomaEnrichmentMYB, MYBL1, NFIB2.81
44Myelodysplastic syndrome with ring sideroblastsEnrichmentMT-CO1, SF3B1, TET22.81
45Lung cancerEnrichmentBRCA1, CHEK2, EGFR, ERBB2, KMT2D, KRAS, MET, MLH1, PPP2R1B2.79
46Atrial heart septal defectEnrichmentACTL6A, HDAC8, NKX2-5, SMARCA4, TBX52.76
4746,xy complete gonadal dysgenesisEnrichmentAR, CBX2, NR0B1, NR5A1, SOX92.76
48Interatrial communicationEnrichmentACTL6A, HDAC8, NKX2-5, SMARCA4, TBX52.76
49Gallbladder cancerEnrichmentCTNNB1, KRAS, SMAD4, TP532.73
50Mismatch repair cancer syndrome 1EnrichmentMLH1, MSH2, PMS22.56
51Lynch syndrome 4EnrichmentMSH2, PMS2, RB12.56
52Seckel syndromeEnrichmentATR, ATRIP, CPAP, DNA2, NUP85, RBBP82.51
53MelanomaEnrichmentCDKN2A, CHEK2, DNMT3A, PTEN, STK112.50
54Glioma susceptibility 1EnrichmentERBB2, H3-3A, H3C1, TP532.46
55Type 2 diabetes mellitusEnrichmentAKT2, GCK, HNF4A, IL6, PPARG, PTPN1, RBPJ, RETN, TCF7L2, WRN2.46
56Patent foramen ovaleEnrichmentCITED2, GATA4, NKX2-5, PSMC3, PTPN11, TBX52.42
57Male infertilityEnrichmentAR, FKBP6, MAEL, MOV10L1, NR5A1, PIWIL1, PLD6, TDRD1, TDRD12, TDRD92.40
58Leukemia, chronic myeloidEnrichmentABL1, KRAS, RUNX1, SF3B12.33
59Rare genetic intellectual disabilityEnrichmentARID1B, CREBBP, DNMT3A, EP300, KMT2A, MTOR2.33
60Myelodysplastic syndromeEnrichmentGATA2, SF3B1, TET2, TP53, U2AF12.28
61Specific learning disabilityEnrichmentDNMT3A, KMT2B, MAPK1, PTPN11, YWHAG2.28
62Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, SF3B12.25
63Hereditary recurrent myoglobinuriaEnrichmentLPIN1, MT-CO1, MT-CO32.25
64Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT, SRSF2, TET22.25
65Pseudomyogenic hemangioendotheliomaEnrichmentACTB, SERPINE1, WWTR12.25
66Colonic benign neoplasmEnrichmentATM, CHEK2, MLH1, MRE112.24
67Heart diseaseEnrichmentABL1, CREBBP, GATA4, NKX2-5, TBX52.22
6846,xy partial gonadal dysgenesisEnrichmentGATA4, NR0B1, NR5A1, SOX9, WWOX2.22
69Chondrosarcoma, extraskeletal myxoidEnrichmentNR4A3, TAF15, TCF122.19
70Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentNR0B1, NR5A1, SOX92.19
71RhabdomyosarcomaEnrichmentBRCA1, DICER1, MSH2, PMS2, PTEN, TP532.17
72GliosarcomaEnrichmentATM, DNMT3A, EGFR, MSH2, PPARG, TP532.17
73MicrocephalyEnrichmentABL1, ACTB, ARID1A, ARID1B, AUTS2, CAMK2B, CPAP, CTNNB1, EP300, GRIN2B, HDAC8, KMT2A, KMT2D, MAPK1, MECP2, MED12, NBN, NUP188, PSMC3, PTPN11, SATB2, SMARCA5, TAF8, YWHAG2.16
74TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2E2, GTF2H52.09
75Burkitt lymphomaEnrichmentMYC, PMS22.09
76Maturity-onset diabetes of the young, type 1EnrichmentGCK, HNF4A2.09
77Muir-torre syndromeEnrichmentMLH1, MSH22.09
78Thumb deformityEnrichmentCREBBP, TBX52.09
79LymphangioleiomyomatosisEnrichmentTSC1, TSC22.09
80Developmental and epileptic encephalopathy 28EnrichmentMAF, WWOX2.09
81Spinocerebellar ataxia, autosomal recessive 12EnrichmentMAF, WWOX2.09
82Hypothyroidism, congenital, nongoitrous, 6EnrichmentNR1D1, THRA2.09
83Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C32.09
84Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C112.09
85Werner syndromeEnrichmentPTPN11, WRN2.09
86Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A22.09
87Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET2.09
88Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB12.09
89Acute basophilic leukemiaEnrichmentGATA1, MYB2.09
90Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP, KAT6A2.09
91Kleefstra syndromeEnrichmentEHMT1, KMT2C2.09
9246,xy sex reversal 3EnrichmentGATA4, NR5A12.09
93Li-fraumeni syndrome 1EnrichmentCHEK2, TP532.09
94SarcomaEnrichmentCHEK2, TP532.09
95Medullary thyroid carcinomaEnrichmentMEN1, RET2.09
96Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B2.09
97Aortic valve disease 2EnrichmentSMAD6, TBX52.09
98InsulinomaEnrichmentMEN1, YY12.09
99B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA3, PIP4K2A2.09
100Microcephaly, growth restriction, and increased sister chromatid exchange 2EnrichmentRMI2, TOP3A2.09
101Craniosynostosis 7EnrichmentBMP2, SMAD62.09
102Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B2.09
103Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A22.09
104Posterior hypospadiasEnrichmentAR, MAMLD12.09
105Kleefstra syndrome due to a point mutationEnrichmentEHMT1, KMT2C2.09
106Primary mediastinal large b-cell lymphomaEnrichmentBCL6, XPO12.09
107B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT, KMT2A2.09
108B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)EnrichmentAUTS2, PAX52.09
109Corpus callosum, agenesis ofEnrichmentARID1B, AUTS2, CREBBP, ERCC2, MED122.08
110Lynch syndromeEnrichmentCHEK2, KRAS, MLH1, MSH2, PMS22.08
111Isolated corpus callosum agenesisEnrichmentARID1B, AUTS2, CREBBP, ERCC2, MED122.08
112Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B, AUTS2, CREBBP, ERCC2, MED122.08
113HepatoblastomaEnrichmentBARD1, CTNNB1, ERCC2, JAG1, MSH2, TP532.05
114Giant cell glioblastomaEnrichmentATM, DNMT3A, EGFR, MSH2, PPARG, TP532.02
115Hyperparathyroidism 1EnrichmentCDC73, MEN12.01
116Acute myeloid leukemia with t(9;11)(p22;q23)EnrichmentKMT2A, MLLT32.01
117Mitochondrial complex iv deficiency, nuclear type 1EnrichmentCOX4I1, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO31.95
118Type 1 diabetes mellitusEnrichmentFOXP3, IL6, INS1.92
119Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, TP531.92
120Breast adenocarcinomaEnrichmentAKT1, KRAS, TP531.92
121Lung squamous cell carcinomaEnrichmentCDKN2A, EGFR, KRAS1.92
122Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, CDKN2A, CNOT3, MYB, MYC, NUP214, TAL11.90
123Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR1C, POLR3A, POLR3B1.89
124GlioblastomaEnrichmentATM, DNMT3A, MSH21.89
125Aggressive systemic mastocytosisEnrichmentRUNX1, SRSF2, TET21.89
126Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA, KIT, RUNX11.89
127Leukodystrophy, hypomyelinating, 4EnrichmentHSPD1, POLR3A1.87
128PineoblastomaEnrichmentDICER1, DROSHA1.87
129Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentDEK, NUP2141.87
130MeningiomaEnrichmentAKT1, PTEN, SMARCB1, SMARCE11.74
131Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP531.71
132Renal cell carcinoma, papillary, 1EnrichmentATM, MET, MTOR1.71
133B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, CDKN2A, TP531.71
134Thyroid carcinoma, familial medullaryEnrichmentESR2, RET1.64
135Nijmegen breakage syndromeEnrichmentGCK, NBN1.64
136Weaver syndromeEnrichmentEZH2, SUZ121.64
13746,xx sex reversal 1EnrichmentNR5A1, SOX91.64
138Tuberous sclerosis 2EnrichmentIFNG, TSC21.64
139Anus, imperforateEnrichmentCTNNB1, MED121.64
140Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C51.64
141Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B, CTSK1.64
142Umbilical herniaEnrichmentACTL6A, GLI31.64
143High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL6, MYC1.64
144Dedifferentiated liposarcomaEnrichmentCDK4, MDM21.64
145HamartomaEnrichmentTSC1, TSC21.64
146Atypical teratoid rhabdoid tumorEnrichmentSMARCB1, TP531.64
147Testicular germ cell cancerEnrichmentKIT, STK111.64
148Squamous cell carcinomaEnrichmentRB1, TP531.64
149Cellular ependymomaEnrichmentMEN1, MSH21.64
150Tanycytic ependymomaEnrichmentMEN1, MSH21.64
151Papillary ependymomaEnrichmentMEN1, MSH21.64
152AdenocarcinomaEnrichmentATM, TP531.64
153Migraine without auraEnrichmentESR1, NOTCH31.64
154High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A21.64
155Well-differentiated liposarcomaEnrichmentCDK4, MDM21.64
156Clear cell ependymomaEnrichmentMEN1, MSH21.64
157KeratoacanthomaEnrichmentNOTCH1, NOTCH21.64
158Kabuki syndrome 1EnrichmentKDM6A, KMT2A, KMT2D1.63
159EpilepsyEnrichmentGRIN2A, GRIN2B, MECP2, MT-CO3, NR4A2, RORB, SETD1B, WWOX1.61
160Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentMED12, UPF3B1.56
161Parathyroid adenomaEnrichmentCDC73, MEN11.56
162Familial isolated hyperparathyroidismEnrichmentCDC73, MEN11.56
163Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM31.54
164Isolated split hand-split foot malformationEnrichmentDLX5, DLX6, SEM11.54
165Aortic aneurysm, familial thoracic 1EnrichmentGATA4, NOTCH1, SMAD3, SMAD61.50
166Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, CSNK2B, DLL1, GRIN2B, KDM5B, PPM1D, SETD1B, YWHAZ1.48
167LaryngomalaciaEnrichmentMECP2, NFIX1.43
168Glass syndromeEnrichmentGTF3C3, SATB21.43
169Viss syndromeEnrichmentIPO8, POLR3B1.43
170Koolen-de vries syndromeEnrichmentATM, KANSL11.43
171Polr3-related leukodystrophyEnrichmentPOLR3A, POLR3B1.43
172Treacher collins syndrome 1EnrichmentPOLR1B, POLR1C, POLR1D1.42
173Renal cell carcinoma, nonpapillaryEnrichmentATM, MET, MTOR, PBRM11.39
174Cornelia de lange syndrome 1EnrichmentHDAC8, KMT2A, TAF61.39
175Mitochondrial myopathy, infantile, transientEnrichmentMT-CO1, MT-CO2, MT-CO31.39
176Cornelia de lange syndromeEnrichmentHDAC8, KMT2A, TAF61.39
177Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, HEY2, MED12, NOTCH1, SKI, SMAD2, SMAD3, SMAD41.39
178Hirschsprung disease 1EnrichmentERBB2, GLI3, IHH, POLR2F, RET, SREBF11.38
179Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A21.36
180Huntington diseaseEnrichmentHTT, SLC2A31.36
181Small cell cancer of the lungEnrichmentRB1, TP531.36
182Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA21.36
183Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND21.36
184Maturity-onset diabetes of the young, type 3EnrichmentGCK, HNF4A1.36
185Intellectual developmental disorder, autosomal dominant 26EnrichmentAUTS2, KMT2D1.36
186Mantle cell lymphomaEnrichmentATM, CCND11.36
187BlepharophimosisEnrichmentARID1B, SMARCA21.36
188Lung sarcomatoid carcinomaEnrichmentKRAS, TP531.36
189Malignant epithelioid hemangioendotheliomaEnrichmentWWTR1, YAP11.36
190Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD501.36
191Tuberous sclerosisEnrichmentTSC1, TSC21.36
192CraniopharyngiomaEnrichmentCTNNB1, ERCC21.36
193Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN11, YWHAZ1.36
194Noonan syndrome with multiple lentiginesEnrichmentPPP1R13L, PTPN111.36
195Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA21.36
196Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentCBFB, KIT1.36
197Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A21.36
198Non-syndromic bicoronal craniosynostosisEnrichmentTCF12, TWIST11.36
199Pediatric systemic lupus erythematosusEnrichmentIRAK1, SPP11.36
200Primary hyperparathyroidismEnrichmentCDKN1B, MEN11.36
201Benign ependymomaEnrichmentMEN1, MSH21.36
202Wilms tumor 1EnrichmentCHEK2, CTR9, REST, TRIM281.26
203Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP531.26
204PolymicrogyriaEnrichmentAKT3, EHMT1, PSMC31.26
205Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentMT-CO1, MT-CO2, MT-CO31.26
206Primary bone dysplasiaEnrichmentCOL1A1, COL1A2, CTSK1.26
207Melanoma, cutaneous malignant 1EnrichmentCDK4, CDKN2A, CDKN2B, STK111.22
208Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentATRIP, NOTCH31.17
209Fanconi anemia, complementation group d2EnrichmentBRIP1, FANCD21.17
210Von hippel-lindau syndromeEnrichmentCCND1, FANCD21.17
211Rhabdomyosarcoma 2EnrichmentFOXO1, TP531.17
212Atrioventricular septal defectEnrichmentNR1D2, TBX51.17
213Breast-ovarian cancer, familial 2EnrichmentBRCA1, PMS21.17
214Ventricular septal defect 1EnrichmentBMP2, GATA41.17
215AmblyopiaEnrichmentKMT2D, TFAP2A1.17
216Acute myeloid leukemia with maturationEnrichmentKIT, NPM11.17
217Vascular dementiaEnrichmentATRIP, NOTCH31.17
218Diffuse cutaneous systemic sclerosisEnrichmentCAV1, CCN21.17
219Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC31.17
220Endometrial stromal sarcomaEnrichmentSUZ12, YWHAE1.17
221Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD4, STK111.17
222Hypomyelinating leukodystrophy 7EnrichmentPOLR3A, POLR3B1.16
223Embryonal rhabdomyosarcomaEnrichmentDICER1, TP531.16
224Blood platelet diseaseEnrichmentCD36, RUNX11.16
225Familial infantile bilateral striatal necrosisEnrichmentNUP54, NUP621.16
226Xeroderma pigmentosum, variant typeEnrichmentDDB2, ERCC2, ERCC31.16
227Meningioma, familialEnrichmentPTEN, SMARCB1, SMARCE11.16
228Leukemia, acute lymphoblasticEnrichmentCDKN2A, NBN, PAX51.16
229OsteochondrodysplasiaEnrichmentCOL1A1, COL1A2, CTSK1.16
230Lung non-small cell carcinomaEnrichmentEGFR, ERBB2, KRAS1.16
231Diabetes mellitusEnrichmentGCK, INS, MEN11.16
232LeukodystrophyEnrichmentERCC2, HSPD1, POLR3A, POLR3B, U2AF21.14
233Charge syndromeEnrichmentEP300, KDM6A, KMT2D1.12
234Loeys-dietz syndromeEnrichmentIPO8, SMAD2, SMAD31.12
235Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX1, SRSF2, TET21.12
236Parkinson's diseaseEnrichmentATXN3, GAMT, NR4A2, TBP1.07
237Septooptic dysplasiaEnrichmentARID1A, ARNT2, SOX21.06
238Bernard-soulier syndrome, type a2, autosomal dominantEnrichmentGP1BA1.04
239Multiple endocrine neoplasia, type iibEnrichmentRET1.04
240Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.04
241Pallister-hall syndromeEnrichmentGLI31.04
242Proteus syndromeEnrichmentAKT11.04
243Paget disease, extramammaryEnrichmentERBB21.04
244Parietal foramina with cleidocranial dysplasiaEnrichmentMSX21.04
245Atrial septal defect 7 with or without atrioventricular conduction defectsEnrichmentNKX2-51.04
246MetachondromatosisEnrichmentPTPN111.04
247Greig cephalopolysyndactyly syndromeEnrichmentGLI31.04
248Barber-say syndromeEnrichmentTWIST21.04
249Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.04
250Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A21.04
251Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessiveEnrichmentDLX51.04
252Bloom syndromeEnrichmentBLM1.04
253Axenfeld-rieger syndrome, type 1EnrichmentPITX21.04
254TorticollisEnrichmentACTL6A1.04
255Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC61.04
256Linear skin defects with multiple congenital anomalies 2EnrichmentCOX7B1.04
257Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A1.04
258Sea-blue histiocyte diseaseEnrichmentAPOE1.04
259Prostate cancer, hereditary, x-linked 3EnrichmentAR1.04
260Hypothyroidism, congenital, nongoitrous, 5EnrichmentNKX2-51.04
261Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK11.04
262Oculoectodermal syndromeEnrichmentKRAS1.04
263Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF11.04
264Vacterl association with hydrocephalusEnrichmentPTEN1.04
265Androgen insensitivity, partialEnrichmentAR1.04
266Spermatogenic failure, x-linked, 9EnrichmentRBBP71.04
267Intellectual developmental disorder, x-linked 99EnrichmentUSP9X1.04
268Type 1 diabetes mellitus 10EnrichmentIL2RA1.04
269Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X1.04
270Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA11.04
271Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA11.04
272Immunodysregulation, polyendocrinopathy, and enteropathy, x-linkedEnrichmentFOXP31.04
273Nonarteritic anterior ischemic optic neuropathyEnrichmentGP1BA1.04
274Dystonia 3, torsion, x-linkedEnrichmentTAF11.04
275Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR21.04
276PycnodysostosisEnrichmentCTSK1.04
277Myoglobinuria, recurrentEnrichmentMT-CO11.04
278Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA11.04
279Seckel syndrome 2EnrichmentRBBP81.04
28046,xy sex reversal 5EnrichmentCBX21.04
281Cataract 21, multiple typesEnrichmentMAF1.04
282Branchial cleft anomaliesEnrichmentKMT2D1.04
283Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.04
284Facial hypertrichosisEnrichmentMECP21.04
285Melanoma, cutaneous malignant 3EnrichmentCDK41.04
286Fanconi anemia, complementation group jEnrichmentBRIP11.04
287Mastocytosis, cutaneousEnrichmentKIT1.04
288Char syndromeEnrichmentTFAP2B1.04
289Polydactyly, preaxial ivEnrichmentGLI31.04
290Von willebrand disease, platelet-typeEnrichmentGP1BA1.04
291Scalp-ear-nipple syndromeEnrichmentKCTD11.04
292Celiac disease 3EnrichmentCTLA41.04
293Xeroderma pigmentosum, complementation group bEnrichmentERCC31.04
294Holt-oram syndromeEnrichmentTBX51.04
295Focal facial dermal dysplasia 2, brauer-setleis typeEnrichmentTWIST21.04
296Hajdu-cheney syndromeEnrichmentNOTCH21.04
297Alagille syndrome 2EnrichmentNOTCH21.04
298Dermatitis, atopic, 4EnrichmentSOCS31.04
299Microvascular complications of diabetes 6EnrichmentSOD21.04
300Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP11.04
301Maturity-onset diabetes of the young, type 2EnrichmentGCK1.04
302Leopard syndrome 1EnrichmentPTPN111.04
303Intellectual developmental disorder, autosomal recessive 18, with or without epilepsyEnrichmentMED231.04
304Parietal foramina 1EnrichmentMSX21.04
305Lipoprotein glomerulopathyEnrichmentAPOE1.04
306Mucoepithelial dysplasia, hereditaryEnrichmentSREBF11.04
307Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.04
308Lateral meningocele syndromeEnrichmentNOTCH31.04
309Holoprosencephaly 4EnrichmentTGIF11.04
310Anterior segment dysgenesis 4EnrichmentPITX21.04
311Seckel syndrome 1EnrichmentATR1.04
312Microcephaly 12, primary, autosomal recessiveEnrichmentCDK61.04
313Focal facial dermal dysplasia 3, setleis typeEnrichmentTWIST21.04
314Mirror movements 2EnrichmentRAD511.04
315Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityEnrichmentTAF21.04
316Coffin-siris syndrome 5EnrichmentSMARCE11.04
317Glucocorticoid resistance, generalizedEnrichmentNR3C11.04
318Ring dermoid of corneaEnrichmentPITX21.04
319Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A1.04
320Gand syndromeEnrichmentGATAD2B1.04
321Caudal duplication anomalyEnrichmentAXIN11.04
322Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI1.04
323Microcephaly 11, primary, autosomal recessiveEnrichmentPHC11.04
32446,xx sex reversal 4EnrichmentNR5A11.04
325Spermatogenic failure 8EnrichmentNR5A11.04
326Seckel syndrome 8EnrichmentDNA21.04
327Culler-jones syndromeEnrichmentGLI21.04
328Greenberg dysplasiaEnrichmentLBR1.04
329Developmental and epileptic encephalopathy 27EnrichmentGRIN2B1.04
330Polydactyly, postaxial, type a6EnrichmentZNF1411.04
331Accelerated tumor formationEnrichmentMDM21.04
332Pulmonary hypertension, primary, 3EnrichmentCAV11.04
333Intellectual developmental disorder with dysmorphic facies and ptosisEnrichmentBRPF11.04
334Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK51.04
335Spinocerebellar ataxia 41EnrichmentTRPC31.04
336Pelger-huet anomalyEnrichmentLBR1.04
337Atrioventricular septal defect 4EnrichmentGATA41.04
338Radioulnar synostosis, nonsyndromicEnrichmentSMAD61.04
339Ablepharon-macrostomia syndromeEnrichmentTWIST21.04
340Wilms tumor 6EnrichmentREST1.04
341Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasiaEnrichmentMED271.04
342Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B1.04
343Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B1.04
344Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.04
345Holoprosencephaly 12 with or without pancreatic agenesisEnrichmentCNOT11.04
346Luo-schoch-yamamoto syndromeEnrichmentRNF21.04
347Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR1.04
348Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.04
349Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG11.04
350Coffin-siris syndrome 11EnrichmentSMARCD11.04
351Immunodeficiency 69EnrichmentIFNG1.04
352Agammaglobulinemia 10, autosomal dominantEnrichmentSPI11.04
353Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA11.04
354Noonan syndrome 13EnrichmentMAPK11.04
355Fanconi anemia, complementation group rEnrichmentRAD511.04
356Neurodevelopmental disorder with speech impairment and dysmorphic faciesEnrichmentSETD1A1.04
357Mitochondrial complex iv deficiency, nuclear type 18EnrichmentCOX6A21.04
358Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP21.04
359Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.04
36046,xy sex reversal 10EnrichmentSOX91.04
361Hydrocephalus, congenital, 5EnrichmentSMARCC11.04
362Degcags syndromeEnrichmentZNF6991.04
363Rhizomelic skeletal dysplasia with or without pelger-huet anomalyEnrichmentLBR1.04
364Brunet-wagner neurodevelopmental syndromeEnrichmentRBL21.04
365Arrhythmogenic cardiomyopathy with variable ectodermal abnormalitiesEnrichmentPPP1R13L1.04
366Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.04
367Casgid syndromeEnrichmentGLS1.04
36846,xy sex reversal 2EnrichmentNR0B11.04
369Adrenal hypoplasia, congenitalEnrichmentNR0B11.04
370Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.04
371Chromosome 2q37 deletion syndromeEnrichmentHDAC41.04
372Auriculocondylar syndrome 4EnrichmentHDAC91.04
373Autism x-linked 3EnrichmentMECP21.04
374Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.04
375Lessel-kubisch syndromeEnrichmentMDM21.04
376Cornelia de lange syndrome 5EnrichmentHDAC81.04
377Bone marrow failure syndrome 6EnrichmentMDM41.04
378Epilepsy, idiopathic generalized 15EnrichmentRORB1.04
379Bone marrow failure syndrome 5EnrichmentTP531.04
380Houge-janssens syndrome 4EnrichmentPPP2R5C1.04
38146,xx sex reversal 2EnrichmentSOX91.04
382Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.04
383Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A21.04
384Orofacial cleft 10EnrichmentSUMO11.04
385Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA11.04
386Developmental and epileptic encephalopathy 89EnrichmentGAD11.04
387Progesterone resistanceEnrichmentPGR1.04
388Stankiewicz-isidor syndromeEnrichmentPSMD121.04
389Lymphedema, primary, with myelodysplasiaEnrichmentGATA21.04
390Intellectual developmental disorder, x-linked 97EnrichmentZNF7111.04
391Osteofibrous dysplasiaEnrichmentMET1.04
392Papilloma of choroid plexusEnrichmentTP531.04
393Adrenal cortical adenomaEnrichmentMEN11.04
394Basal cell carcinoma 7EnrichmentTP531.04
395Lynch syndrome 2EnrichmentMLH11.04
396Xeroderma pigmentosum, complementation group dEnrichmentERCC21.04
397Imagawa-matsumoto syndromeEnrichmentSUZ121.04
398Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X1.04
399Hypospadias 2, x-linkedEnrichmentMAMLD11.04
400Intellectual developmental disorder, x-linked 89EnrichmentZNF411.04
401Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6EnrichmentDNA21.04
402Anaplastic thyroid carcinomaEnrichmentTP531.04
403Cardiomyopathy, familial hypertrophic, 31EnrichmentTRIM631.04
404Ifap syndrome 2EnrichmentSREBF11.04
405Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.04
406Infant-type hemispheric gliomaEnrichmentBRCA11.04
407Type 1 diabetes mellitus 12EnrichmentCTLA41.04
408Ayme-gripp syndromeEnrichmentMAF1.04
409Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE11.04
410Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC71.04
411Familial cold autoinflammatory syndrome 4EnrichmentNLRC41.04
412Mitochondrial dna depletion syndrome 8bEnrichmentRRM2B1.04
413Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.04
414Jawad syndromeEnrichmentRBBP81.04
415Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancyEnrichmentNR3C21.04
416Papillary tumor of the pineal regionEnrichmentPTEN1.04
417Lipodystrophy, familial partial, type 7EnrichmentCAV11.04
418Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP11.04
419Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.04
420Developmental and epileptic encephalopathy 109EnrichmentFZR11.04
421Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.04
422Houge-janssens syndrome 2EnrichmentPPP2R1A1.04
423Tumor predisposition syndrome 4EnrichmentCHEK21.04
424Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.04
425Hyperinsulinemic hypoglycemia, familial, 3EnrichmentGCK1.04
426Immunodeficiency 42EnrichmentRORC1.04
427Deafness, autosomal recessive 97EnrichmentMET1.04
428Microvascular complications of diabetes 1EnrichmentVEGFA1.04
429Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.04
430Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.04
431Retinitis pigmentosa 37EnrichmentNR2E31.04
432Autoinflammation with infantile enterocolitisEnrichmentNLRC41.04
433Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.04
434Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.04
435Acrocapitofemoral dysplasiaEnrichmentIHH1.04
436Atrial fibrillation, familial, 8EnrichmentZFHX31.04
437Ataxia-telangiectasia-like disorder 1EnrichmentMRE111.04
438Xeroderma pigmentosum group bEnrichmentERCC31.04
439Craniosynostosis 2EnrichmentMSX21.04
440Intellectual developmental disorder, autosomal recessive 65EnrichmentKDM5B1.04
441Ovarian dysgenesis 8EnrichmentESR21.04
442Spastic paraplegia 13, autosomal dominantEnrichmentHSPD11.04
443Developmental and epileptic encephalopathy 71EnrichmentGLS1.04
444Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH1.04
445Deafness, autosomal recessive 35EnrichmentESRRB1.04
446Rothmund-thomson syndrome, type 1EnrichmentANAPC11.04
447Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB11.04
448Neuroendocrine tumorEnrichmentCDKN1B1.04
449Autism 9EnrichmentMET1.04
450Atrial septal defect 2EnrichmentGATA41.04
451AcatalasemiaEnrichmentCAT1.04
452Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.04
453Holoprosencephaly 9EnrichmentGLI21.04
454Deafness, autosomal dominant 27EnrichmentREST1.04
455Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR1.04
456Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B1.04
457Ventricular septal defect 3EnrichmentNKX2-51.04
458Intellectual developmental disorder, autosomal recessive 34, with variant lissencephalyEnrichmentCRADD1.04
459Immunodeficiency 21EnrichmentGATA21.04
460Immunodeficiency 31aEnrichmentSTAT11.04
461Craniosynostosis 3EnrichmentTCF121.04
462Polydactyly-macrocephaly syndromeEnrichmentMAX1.04
463Long qt syndrome 16EnrichmentCALM31.04
464Cowden syndrome 6EnrichmentAKT11.04
465Epilepsy, early-onset, 2, with or without developmental delayEnrichmentSETD1A1.04
466Neurodevelopmental disorder with language impairment and behavioral abnormalitiesEnrichmentGRIA21.04
467Microphthalmia, syndromic 12EnrichmentRARB1.04
468Intellectual developmental disorder with seizures and language delayEnrichmentSETD1B1.04
469Myofibromatosis, infantile, 2EnrichmentNOTCH31.04
470Testicular anomalies with or without congenital heart diseaseEnrichmentGATA41.04
471Spermatogenic failure 13EnrichmentTAF4B1.04
472Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.04
473Olmsted syndrome 2EnrichmentPERP1.04
474Premature ovarian failure 7EnrichmentNR5A11.04
475Syndromic x-linked intellectual disability lubs typeEnrichmentMECP21.04
476Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.04
477NeurilemmomaEnrichmentSMARCB11.04
478Ataxia-telangiectasia-like disorder 2EnrichmentPCNA1.04
479Webb-dattani syndromeEnrichmentARNT21.04
480Anemia, congenital, nonspherocytic hemolytic, 4EnrichmentGPI1.04
481Loeys-dietz syndrome 6EnrichmentSMAD21.04
482Arboleda-tham syndromeEnrichmentKAT6A1.04
483Colorectal cancer 3EnrichmentSMAD71.04
484Endometrial serous adenocarcinomaEnrichmentATM1.04
485Immunodeficiency 31bEnrichmentSTAT11.04
486Neurocardiofaciodigital syndromeEnrichmentMAPKAPK51.04
487Reynolds syndromeEnrichmentLBR1.04
488Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisEnrichmentCOX4I21.04
489Cholestasis, progressive familial intrahepatic, 5EnrichmentNR1H41.04
490Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D1.04
491Glioma susceptibility 2EnrichmentPTEN1.04
492Alazami-yuan syndromeEnrichmentTAF61.04
493Basel-vanagaite-smirin-yosef syndromeEnrichmentMED251.04
494Spondylo-megaepiphyseal-metaphyseal dysplasiaEnrichmentNKX3-21.04
495Ductal carcinoma in situEnrichmentTP531.04
496Atrial septal defect 8EnrichmentCITED21.04
497Hypoplastic left heart syndrome 2EnrichmentNKX2-51.04
498Coffin-siris syndrome 3EnrichmentSMARCB11.04
499Fibromatosis, gingival, 5EnrichmentREST1.04
500Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.04
501Kleefstra syndrome 2EnrichmentKMT2C1.04
502Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.04
503Arid1b-related disorderEnrichmentARID1B1.04
504Ovarian small cell carcinomaEnrichmentSMARCA41.04
505Patent ductus arteriosus 2EnrichmentTFAP2B1.04
506Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A1.04
507Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.04
508Mismatch repair cancer syndrome 2EnrichmentMSH21.04
509Cardioacrofacial dysplasia 1EnrichmentPRKACA1.04
510Lopes-maciel-rodan syndromeEnrichmentHTT1.04
51120p12.3 microdeletion syndromeEnrichmentBMP21.04
512Thrombocytopenia 6EnrichmentSRC1.04
513Cohen-gibson syndromeEnrichmentEED1.04
514Intellectual developmental disorder, autosomal recessive 60EnrichmentTAF131.04
5158p23.1 microdeletion syndromeEnrichmentGATA41.04
516Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.04
517Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.04
518Vissers-bodmer syndromeEnrichmentCNOT11.04
519Intellectual developmental disorder, autosomal dominant 68EnrichmentKMT2B1.04
520Mitochondrial complex iv deficiency, nuclear type 7EnrichmentCOX6B11.04
521Mitochondrial complex iv deficiency, nuclear type 20EnrichmentCOX5A1.04
522Mismatch repair cancer syndrome 4EnrichmentPMS21.04
523Jansen-de vries syndromeEnrichmentPPM1D1.04
524Deafness-lymphedema-leukemia syndromeEnrichmentGATA21.04
525Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA21.04
526Neurodevelopmental disorder with poor growth, large ears, and dysmorphic faciesEnrichmentZNF6681.04
527Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG11.04
528Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.04
529Intellectual developmental disorder with hypertelorism and distinctive faciesEnrichmentCCNK1.04
530Menke-hennekam syndrome 1EnrichmentCREBBP1.04
531Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC41.04
532Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.04
533LeiomyosarcomaEnrichmentCHEK21.04
534Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonismEnrichmentNR4A21.04
535Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesEnrichmentCNOT21.04
536Turnpenny-fry syndromeEnrichmentPCGF21.04
537Periventricular nodular heterotopia 7EnrichmentNEDD4L1.04
538Guillouet-gordon syndromeEnrichmentMED161.04
539Generalized isolated dystoniaEnrichmentKMT2B1.04
540Mitochondrial complex iv deficiency, nuclear type 16EnrichmentCOX4I11.04
541Mitochondrial complex iv deficiency, nuclear type 21EnrichmentCOXFA41.04
542Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.04
543Erythrokeratodermia variabilis et progressiva 7EnrichmentPERP1.04
544Chronic mast cell leukemiaEnrichmentKIT1.04
545Mitochondrial complex iv deficiency, nuclear type 15EnrichmentCOX8A1.04
546Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5EnrichmentTOP3A1.04
547Neurodevelopmental disorder with dysmorphic facies and thin corpus callosumEnrichmentSUPT16H1.04
548Rectal benign neoplasmEnrichmentMSH21.04
549Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B1.04
550Thyroid gland undifferentiated carcinomaEnrichmentTP531.04
551Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.04
552Asphyxia neonatorumEnrichmentCOL1A11.04
553Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.04
554Trilateral retinoblastomaEnrichmentRB11.04
555Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.04
556Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA11.04
557Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.04
558Charcot-marie-tooth disease, recessive intermediate dEnrichmentCOX6A11.04
559Adenoid ameloblastomaEnrichmentCTNNB11.04
560Arthrogryposis, distal, type 11EnrichmentMET1.04
561Long qt syndrome 15EnrichmentCALM21.04
562Cdkn2a cancer predispositionEnrichmentCDKN2A1.04
563Csf1r-related disorderEnrichmentCSF1R1.04
564Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG1.04
565Heritable thoracic aortic diseaseEnrichmentSMAD41.04
566Kmt2b-related disordersEnrichmentKMT2B1.04
567Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP21.04
568Bernard-soulier syndrome type a2EnrichmentGP1BA1.04
569Acute myeloid leukemia with mll rearrangementEnrichmentKMT2A1.04
570Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.04
571Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X1.04
572Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH1.04
573RicketsEnrichmentVDR1.04
574Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.04
575Pituitary cancerEnrichmentPMS21.04
576Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA11.04
577Ascending colon cancerEnrichmentMSH21.04
578Rothmund-thomson syndrome, type 4EnrichmentDNA21.04
579Capillary hemangiomaEnrichmentAKT31.04
580Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.04
581Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defectEnrichmentSCO21.04
582Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC41.04
583Premature ovarian failure 26EnrichmentMGA1.04
584Pancreatic insufficiency-anemia-hyperostosis syndromeEnrichmentCOX4I21.04
585Gestational diabetesEnrichmentGCK1.04
586Sinus venosus atrial septal defectEnrichmentCITED21.04
587Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.04
588Oculovertebral syndromeEnrichmentNR6A11.04
589Developmental dysplasia of the hip 4EnrichmentTRIM331.04
590Pseudohyperaldosteronism type 2EnrichmentNR3C21.04
591Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK11.04
592Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaEnrichmentTHRA1.04
593Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B1.04
594X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF11.04
595Spastic ataxia-dysarthria due to glutaminase deficiencyEnrichmentGLS1.04
596Transient cerebral ischemiaEnrichmentNOTCH31.04
597Landau-kleffner syndromeEnrichmentGRIN2A1.04
598Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A1.04
5995q14.3 microdeletion syndromeEnrichmentMEF2C1.04
600AgammaglobulinemiaEnrichmentSPI11.04
601Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.04
602Aortic arch interruptionEnrichmentNKX2-51.04
603Facial cleftEnrichmentSMARCE11.04
604Isolated bone marrow mastocytosisEnrichmentKIT1.04
605Congenital pulmonary airway malformationEnrichmentKRAS1.04
606Thyroid cancerEnrichmentRET1.04
607B-cell non-hodgkin lymphomaEnrichmentATM1.04
608Smoldering systemic mastocytosisEnrichmentKIT1.04
609Choroid plexus cancerEnrichmentTP531.04
610Ovarian cystEnrichmentMSH21.04
611Congenital nonspherocytic hemolytic anemiaEnrichmentG6PD1.04
612Autosomal dominant spastic ataxiaEnrichmentMT-CO31.04
613Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.04
614Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH31.04
615Wilms tumor 7EnrichmentTRIM281.04
616Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.04
617Multiple congenital anomalies/dysmorphic syndromeEnrichmentPPP1R13L1.04
618Foxg1 syndrome due to intragenic alterationEnrichmentFOXG11.04
619Adrenal adenomaEnrichmentMEN11.04
620Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD21.04
621Complete androgen insensitivity syndromeEnrichmentAR1.04
622Split hand-foot malformation 1 with sensorineural hearing lossEnrichmentDLX51.04
623Atrial heart septal defect 7EnrichmentNKX2-51.04
624MastocytosisEnrichmentKIT1.04
625Xeroderma pigmentosum group dEnrichmentERCC21.04
626Esophagus squamous cell carcinomaEnrichmentWWOX1.04
627Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA41.04
628Foxg1 syndrome due to 14q12 microdeletionEnrichmentFOXG11.04
629Menke-hennekam syndromeEnrichmentCREBBP1.04
630Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.04
631Pleomorphic xanthoastrocytomaEnrichmentTP531.04
632Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.04
633Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE11.04
634Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephalyEnrichmentPIDD11.04
635Cutaneous mastocytomaEnrichmentKIT1.04
636Juvenile huntington diseaseEnrichmentHTT1.04
637Pancreatic agenesis-holoprosencephaly syndromeEnrichmentCNOT11.04
638Gria2-related neurodevelopmental disorderEnrichmentGRIA21.04
639Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A1.04
640Grin2a-related disordersEnrichmentGRIN2A1.04
641Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR1.04
642Typical urticaria pigmentosaEnrichmentKIT1.04
643Mef2c-related disorderEnrichmentMEF2C1.04
644Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeEnrichmentGLI21.04
645Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR21.04
646Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.04
647Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.04
648Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaEnrichmentTHRB1.04
649Nodular urticaria pigmentosaEnrichmentKIT1.04
650Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityEnrichmentAUTS21.04
651Intestinal polyposis syndromeEnrichmentSTK111.04
652Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.04
653Telangiectasia macularis eruptiva perstansEnrichmentKIT1.04
654Acute mast cell leukemiaEnrichmentKIT1.04
655Dislocation of the hip-dysmorphism syndromeEnrichmentTRIM331.04
656Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.04
657Rrm2b mitochondrial dna maintenance defectsEnrichmentRRM2B1.04
658Tubular renal disease-cardiomyopathy syndromeEnrichmentRRAGD1.04
659Generalized resistance to thyroid hormoneEnrichmentTHRB1.04
660Plaque-form urticaria pigmentosaEnrichmentKIT1.04
661Serous carcinoma of the corpus uteriEnrichmentERBB21.04
662Periodic fever-infantile enterocolitis-autoinflammatory syndromeEnrichmentNLRC41.04
663Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.04
664Microcystic stromal tumorEnrichmentCTNNB11.04
665Primary peritoneal carcinomaEnrichmentBRCA11.04
666Gastrointestinal system diseaseEnrichmentRET1.04
667Akt2-related familial partial lipodystrophyEnrichmentAKT21.04
668Malignant astrocytomaEnrichmentPTPN111.04
669Multiple endocrine neoplasiaEnrichmentRET1.04
670Lung oat cell carcinomaEnrichmentRB11.04
671Testis seminomaEnrichmentKIT1.04
67246,xy ovotesticular disorder of sex developmentEnrichmentMAMLD11.04
673Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP931.04
674Fanconi anemia, complementation group aEnrichmentBRCA1, BRIP1, FANCC, FANCD2, FANCI, RAD511.04
675Atrial septal defect 1EnrichmentBMP2, TBX51.02
676Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A21.02
677Developmental dysplasia of the hip 1EnrichmentPSMC3, TRIM331.02
678Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A21.02
679Cowden syndrome 1EnrichmentEGFR, PTEN1.02
680Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3001.02
681Split-hand/foot malformation 1EnrichmentDLX5, LEF11.02
682Testicular germ cell tumorEnrichmentKIT, STK111.02
683Wilms tumor 5EnrichmentCHEK2, TRIM281.02
684Wiedemann-steiner syndromeEnrichmentARID1B, KMT2A1.02
685Kleefstra syndrome 1EnrichmentEHMT1, KMT2C1.02
686Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3001.02
687KeratoconusEnrichmentCOL1A1, TSC11.02
688Patent ductus arteriosusEnrichmentPSMC3, PTPN111.02
689Clear cell renal cell carcinomaEnrichmentATM, PBRM11.02
690Limited sclerodermaEnrichmentCAV1, CCN21.02
691Fetomaternal alloimmune thrombocytopenia 1EnrichmentGP1BA, ITGA2B1.02
692HypertrichosisEnrichmentARID1B, CREBBP1.02
693Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A21.02
694Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A31.00
695Intellectual developmental disorder, x-linked, syndromic 14EnrichmentUPF3B1.00
696Intellectual developmental disorder, x-linked 113EnrichmentCSTF21.00
697Parathyroid carcinomaEnrichmentCDC731.00
698Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC731.00
699Chops syndromeEnrichmentAFF41.00
700Developmental delay, dysmorphic facies, and brain anomaliesEnrichmentU2AF21.00
701Arthrogryposis multiplex congenita 7, x-linkedEnrichmentTHOC21.00
702Pontocerebellar hypoplasia, type 15EnrichmentCDC401.00
703Trichothiodystrophy 6, nonphotosensitiveEnrichmentGTF2E21.00
704Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyEnrichmentTAF81.00
705Pontocerebellar hypoplasia, type 10EnrichmentCLP11.00
706Neurodevelopmental disorder with cerebellar hypoplasia and spasticityEnrichmentINTS81.00
707Cdc73-related disordersEnrichmentCDC731.00
708Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizuresEnrichmentCPSF31.00
709Aicardi-goutieres syndrome 8EnrichmentLSM111.00
710Retinitis pigmentosa 84EnrichmentDHX381.00
711Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunctionEnrichmentSNAPC41.00
712Syndromic x-linked intellectual disability 14EnrichmentUPF3B1.00
713Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalitiesEnrichmentINTS111.00
714Deafness, autosomal dominant 86EnrichmentTHOC11.00
715Galloway-mowat syndromeEnrichmentNUP107, NUP133, TP53RK1.00
716Maturity-onset diabetes of the youngEnrichmentBLK, GCK, HNF4A, INS1.00
717Isolated congenital microcephalyEnrichmentBRF1, CPAP, FOXG1, PHC10.98
718Inherited acute myeloid leukemiaEnrichmentCEBPA, ZCCHC80.98
719Aortic valve disease 1EnrichmentNKX2-5, NOTCH1, SMAD60.97
720Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A2, SP70.97
721Nk-cell enteropathyEnrichmentAURKB, CHEK2, SMARCB10.97
722Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, ASZ1, GATA4, GLI2, LEO1, MOV10L1, NR5A1, PTPN11, TAF4B, TDRD90.97
723Differentiated thyroid carcinomaEnrichmentKRAS, NCOA4, PPARG, RET, TPR, TRIM330.96
724Pierre robin syndromeEnrichmentSNRPB, SOX90.95
725Baraitser-winter syndrome 1EnrichmentACTB0.94
726Rhabdomyosarcoma, embryonal, 2EnrichmentDICER10.94
727Kabuki syndrome 2EnrichmentKDM6A0.94
728Coronary heart disease 7EnrichmentCD360.94
729Lipodystrophy, familial partial, type 5EnrichmentCIDEC0.94
730Cerebellofaciodental syndromeEnrichmentBRF10.94
731Fetal akinesia deformation sequence 4EnrichmentNUP880.94
732Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC10.94
733Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominantEnrichmentPLIN40.94
734Li-ghorbani-weisz-hubshman syndromeEnrichmentKAT80.94
735Atrial fibrillation, familial, 15EnrichmentNUP1550.94
736Spermatogenic failure 73EnrichmentMOV10L10.94
737Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP540.94
738Nephrotic syndrome, type 19EnrichmentNUP1600.94
739Leukodystrophy, hypomyelinating, 27EnrichmentPOLR1A0.94
740Treacher collins syndrome 4EnrichmentPOLR1B0.94
741Macrocephaly, acquired, with impaired intellectual developmentEnrichmentNFIB0.94
742Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB0.94
743Galloway-mowat syndrome 8EnrichmentNUP1330.94
744Lipodystrophy, congenital generalized, type 1EnrichmentAGPAT20.94
745Heyn-sproul-jackson syndromeEnrichmentDNMT3A0.94
746Spinocerebellar ataxia 38EnrichmentELOVL50.94
747Nephrotic syndrome, type 13EnrichmentNUP2050.94
748Immunodeficiency 101EnrichmentPOLR3F0.94
749Dicer1 syndromeEnrichmentDICER10.94
750Developmental delay with variable intellectual disability and dysmorphic faciesEnrichmentJARID20.94
751Leukodystrophy, hypomyelinating, 21EnrichmentPOLR3K0.94
752Marshall-smith syndromeEnrichmentNFIX0.94
753Pleuropulmonary blastomaEnrichmentDICER10.94
754Microcephaly 24, primary, autosomal recessiveEnrichmentNUP370.94
755Becker nevus syndromeEnrichmentACTB0.94
756Global developmental delay, lung cysts, overgrowth, and wilms tumorEnrichmentDICER10.94
757Galloway-mowat syndrome 7EnrichmentNUP1070.94
758Platelet glycoprotein iv deficiencyEnrichmentCD360.94
759Dystonia-deafness syndrome 1EnrichmentACTB0.94
760Treacher collins syndrome 2EnrichmentPOLR1D0.94
761Plasma triglyceride level quantitative trait locusEnrichmentANGPTL40.94
762Epilepsy, familial adult myoclonic, 4EnrichmentYEATS20.94
763Nephrotic syndrome, type 12EnrichmentNUP930.94
764Deafness, autosomal dominant 79EnrichmentSCD50.94
765Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathyEnrichmentMORC20.94
766Prostate cancer, hereditary, 2EnrichmentELAC20.94
767Malan syndromeEnrichmentNFIX0.94
768Combined oxidative phosphorylation deficiency 17EnrichmentELAC20.94
769Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizuresEnrichmentGTF3C30.94
770Brain malformations with or without urinary tract defectsEnrichmentNFIA0.94
771Lipodystrophy, congenital generalized, type 4EnrichmentCAVIN10.94
772Tet3-related beck-fahrner syndromeEnrichmentTET30.94
773Nephrotic syndrome, type 11EnrichmentNUP1070.94
77419p13.3 microduplication syndromeEnrichmentNFIX0.94
775Encephalopathy, acute, infection-induced 9EnrichmentNUP2140.94
776Charcot-marie-tooth disease, axonal, type 2zEnrichmentMORC20.94
777Sandestig-stefanova syndromeEnrichmentNUP1880.94
778Spermatogenic failure 77EnrichmentFKBP60.94
779Ovarian dysgenesis 6EnrichmentNUP1070.94
780Deafness, autosomal recessive 112EnrichmentBDP10.94
781Coffin-siris syndrome 7EnrichmentDPF20.94
782Spermatogenic failure 30EnrichmentTDRD90.94
783Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR0.94
784Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB0.94
785Combined oxidative phosphorylation deficiency 55EnrichmentPOLRMT0.94
786Nephrotic syndrome, type 18EnrichmentNUP1330.94
787Beck-fahrner syndromeEnrichmentTET30.94
788Suleiman-el-hattab syndromeEnrichmentTASP10.94
789Malignant sertoli-leydig cell tumor of ovaryEnrichmentDICER10.94
790Sotos syndrome 2EnrichmentNFIX0.94
791Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5EnrichmentZCCHC80.94
792Baraitser-winter syndromeEnrichmentACTB0.94
793Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutationEnrichmentDGAT20.94
794Inner ear diseaseEnrichmentBRF10.94
795Supratentorial primitive neuroectodermal tumorEnrichmentDICER10.94
796GynandroblastomaEnrichmentDICER10.94
797Congenital smooth muscle hamartomaEnrichmentACTB0.94
798Dicer1 tumor predispositionEnrichmentDICER10.94
799Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA0.94
800Developmental malformations-deafness-dystonia syndromeEnrichmentACTB0.94
801Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA20.94
802Familial acute necrotizing encephalopathyEnrichmentRANBP20.94
803OdontoleukodystrophyEnrichmentPOLR3A0.94
804Myelodysplastic neoplasm with increased blasts type 2EnrichmentTET20.94
805Myelodysplastic neoplasm with increased blasts type 1EnrichmentTET20.94
806Myelodysplastic neoplasm with low blastsEnrichmentTET20.94
807Bilateral polymicrogyriaEnrichmentNFIA0.94
808Esophageal cancerEnrichmentTP53, WWOX0.90
809Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A20.90
810Rett syndromeEnrichmentFOXG1, MECP20.90
811Gastrointestinal stromal tumorEnrichmentKIT, MEN10.90
812Capillary malformation-arteriovenous malformation 1EnrichmentCCNH, KRAS0.90
813Noonan syndrome 3EnrichmentKRAS, PTPN110.90
814Adams-oliver syndromeEnrichmentNOTCH1, RBPJ0.90
815Hereditary hemorrhagic telangiectasiaEnrichmentCCNH, SMAD40.90
816OsteoporosisEnrichmentCOL1A1, COL1A2, SRC0.90
817Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, PTPN11, TBX50.89
818Systemic lupus erythematosusEnrichmentATRIP, BLK, CTLA4, IRAK1, MECP2, SPP10.87
819Familial atrial fibrillationEnrichmentGATA4, NKX2-5, NPPA, NUP155, PITX20.87
820ThrombocytopeniaEnrichmentGATA1, GP1BA, ITGA2B, PTPN11, RUNX1, SMAD4, SRC0.86
821Cerebrooculofacioskeletal syndrome 1EnrichmentERCC2, ERCC60.83
822Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B, UHRF10.83
823Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A, RET0.83
824Polydactyly, postaxial, type a1EnrichmentEP300, GLI3, ZNF1410.83
825Septopreoptic holoprosencephalyEnrichmentDLL1, GLI2, TGIF10.83
826Midline interhemispheric variant of holoprosencephalyEnrichmentDLL1, GLI2, TGIF10.83
82746 xx gonadal dysgenesisEnrichmentNR5A1, NUP107, POLR3H0.81
828Fanconi anemia, complementation group cEnrichmentFANCC, HDAC80.80
829Lymphoma, non-hodgkin, familialEnrichmentCASP10, TP530.80
830Rett syndrome, congenital variantEnrichmentFOXG1, MECP20.80
831NeuroblastomaEnrichmentLMO1, SMARCA40.80
832Permanent neonatal diabetes mellitusEnrichmentGCK, INS0.80
833Hypoplastic left heart syndromeEnrichmentNKX2-5, NOTCH10.80
834Difference of sex developmentEnrichmentAR, NR5A10.80
835Parkinson disease, late-onsetEnrichmentATXN3, GAMT, NR4A2, TBP0.78
836ScoliosisEnrichmentCREBBP, CTSK, GRIN2B, PTPN110.78
837Esophageal atresia/tracheoesophageal fistulaEnrichmentBRIP1, GLS, GTF3C1, POLR2B0.77
838Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B, AUTS20.77
839Microform holoprosencephalyEnrichmentDLL1, GLI2, TGIF10.77
840Lobar holoprosencephalyEnrichmentDLL1, GLI2, TGIF10.77
841Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A10.76
842Fanconi renotubular syndrome 1EnrichmentRRM2B0.76
843Thyroid hormone resistance, selective pituitaryEnrichmentTHRB0.76
844Myeloproliferative syndrome, transientEnrichmentGATA10.76
845Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF10.76
846Hashimoto thyroiditisEnrichmentCTLA40.76
847Melanoma-astrocytoma syndromeEnrichmentCDKN2A0.76
848Peutz-jeghers syndromeEnrichmentSTK110.76
849Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA30.76
850Sveinsson chorioretinal atrophyEnrichmentTEAD10.76
851Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX20.76
852Fibromatosis, gingival, 1EnrichmentREST0.76
853Alopecia, androgenetic, 1EnrichmentSMARCD10.76
854Myhre syndromeEnrichmentSMAD40.76
855Campomelic dysplasiaEnrichmentSOX90.76
856Adrenocortical carcinoma, hereditaryEnrichmentTP530.76
857Camurati-engelmann disease 1EnrichmentTGFB10.76
858Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyEnrichmentFOXP30.76
859TrichomegalyEnrichmentARID1B0.76
860Storage pool platelet diseaseEnrichmentRUNX10.76
861Craniodiaphyseal dysplasiaEnrichmentSP70.76
862Bruck syndrome 1EnrichmentCOL1A20.76
863Galactosemia iiEnrichmentNR3C10.76
864ArgininemiaEnrichmentMED230.76
865Metaphyseal dysplasia, spahr typeEnrichmentMMP130.76
866Specific granule deficiency 1EnrichmentSMARCD20.76
867Robinow-sorauf syndromeEnrichmentTWIST10.76
868Thyroid hormone resistance, generalized, autosomal dominantEnrichmentTHRB0.76
869Enhanced s-cone syndrome 1EnrichmentNR2E30.76
870Kyphomelic dysplasiaEnrichmentCCN20.76
871Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR0.76
872Ebstein anomalyEnrichmentCDK80.76
873Porphyria, congenital erythropoieticEnrichmentGATA10.76
874Osteopathia striata with cranial sclerosisEnrichmentCTNNB10.76
875Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP20.76
876Spondyloepimetaphyseal dysplasia, missouri typeEnrichmentMMP130.76
877Carotid intimal medial thickness 1EnrichmentPPARG0.76
878Thyroid hormone resistance, generalized, autosomal recessiveEnrichmentTHRB0.76
879Alzheimer disease 3EnrichmentAPOE0.76
880Hardikar syndromeEnrichmentMED120.76
881Dermatofibrosarcoma protuberansEnrichmentCOL1A10.76
882Cervical cancerEnrichmentTP530.76
883Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunctionEnrichmentRRM2B0.76
884Opitz-kaveggia syndromeEnrichmentMED120.76
885Rothmund-thomson syndrome, type 2EnrichmentDNA20.76
886Xeroderma pigmentosum, complementation group eEnrichmentDDB20.76
887Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA0.76
888Fanconi anemia, complementation group iEnrichmentFANCI0.76
889Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5EnrichmentRRM2B0.76
890Histiocytoma, angiomatoid fibrousEnrichmentCREB10.76
891Spinocerebellar ataxia 17EnrichmentTBP0.76
892Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalitiesEnrichmentPITX20.76
893Waardenburg syndrome, type 4cEnrichmentPOLR2F0.76
894Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA40.76
895Premature ovarian failure 3EnrichmentAGO20.76
896Congenital cataracts, facial dysmorphism, and neuropathyEnrichmentCTDP10.76
897Microcephaly 6, primary, autosomal recessiveEnrichmentCPAP0.76
898Atrial fibrillation, familial, 1EnrichmentPITX20.76
899Schwannomatosis 1EnrichmentSMARCB10.76
900Piebald traitEnrichmentKIT0.76
901Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD40.76
902Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentNR3C20.76
903Cerebral creatine deficiency syndrome 2EnrichmentGAMT0.76
904Seckel syndrome 4EnrichmentCPAP0.76
905Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM10.76
906Mitochondrial dna depletion syndrome 8aEnrichmentRRM2B0.76
907Complement component c1s deficiencyEnrichmentKMT2D0.76
908Osteogenesis imperfecta, type xiiEnrichmentSP70.76
909Diabetes mellitus, permanent neonatal, 1EnrichmentGCK0.76
910Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B0.76
911Encephalocraniocutaneous lipomatosisEnrichmentKRAS0.76
912Neutrophilia, hereditaryEnrichmentPIP4K2B0.76
913Bone marrow failure syndrome 2EnrichmentGCK0.76
914Melanoma, cutaneous malignant 2EnrichmentCDKN2A0.76
915Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS0.76
916Atrial fibrillation, familial, 6EnrichmentNPPA0.76
917Maturity-onset diabetes of the young, type 11EnrichmentBLK0.76
918Anemia, hypochromic microcytic, with iron overload 2EnrichmentSTEAP30.76
919Adams-oliver syndrome 5EnrichmentNOTCH10.76
920Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRRM2B0.76
921White-sutton syndromeEnrichmentGLI20.76
922Charcot-marie-tooth disease, axonal, type 2b2EnrichmentMED250.76
923Sifrim-hitz-weiss syndromeEnrichmentCHD40.76
924Chromosome 13q14 deletion syndromeEnrichmentRB10.76
925Maturity-onset diabetes of the young, type 10EnrichmentINS0.76
926Choanal atresia, posteriorEnrichmentKMT2D0.76
927Lymphoma, hodgkin, classicEnrichmentTP530.76
928Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB10.76
929Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B0.76
930Syndactyly, type iiiEnrichmentHDAC80.76
931Multiple endocrine neoplasia, type ivEnrichmentCDKN1B0.76
932Muscle hypertrophyEnrichmentMSTN0.76
933Long qt syndrome 14EnrichmentCALM10.76
934Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderEnrichmentCDK130.76
935Cerebellar ataxia, neuropathy, and vestibular areflexia syndromeEnrichmentELF20.76
936Loeys-dietz syndrome 3EnrichmentSMAD30.76
937Adams-oliver syndrome 3EnrichmentRBPJ0.76
938Immunodeficiency 31cEnrichmentSTAT10.76
939Congenital heart defects, multiple types, 3EnrichmentCHEK20.76
940Global developmental delay, progressive ataxia, and elevated glutamineEnrichmentGLS0.76
941Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN20.76
942Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG10.76
943Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B0.76
944Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A10.76
945Gabriele-de vries syndromeEnrichmentYY10.76
946Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT50.76
947HyperproinsulinemiaEnrichmentINS0.76
948Coffin-siris syndrome 6EnrichmentARID20.76
949Ataxia, intention tremor, and hypotonia syndrome, childhood-onsetEnrichmentPOU4F10.76
950Sweeney-cox syndromeEnrichmentTWIST10.76
951Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB0.76
952Hypomagnesemia 7, renal, with or without dilated cardiomyopathyEnrichmentRRAGD0.76
953Intellectual developmental disorder, autosomal dominant 73EnrichmentTAF40.76
954Specific granule deficiency 2EnrichmentSMARCD20.76
955Congenital heart defects and skeletal malformations syndromeEnrichmentABL10.76
956Snijders blok-campeau syndromeEnrichmentCHD30.76
957Coffin-siris syndrome 8EnrichmentSMARCC20.76
958Fanconi anemia, complementation group sEnrichmentBRCA10.76
959Birk-aharoni syndromeEnrichmentPSMC10.76
960Cardiac valvular dysplasia, x-linkedEnrichmentATM0.76
96146,xy sex reversal 1EnrichmentAR0.76
962Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO10.76
963Androgen insensitivity syndromeEnrichmentAR0.76
964Spinocerebellar ataxia 48EnrichmentSTUB10.76
965Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B0.76
966Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL10.76
967Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA0.76
968Ohdo syndrome, x-linkedEnrichmentMED120.76
969Cebalid syndromeEnrichmentMTOR0.76
970Menke-hennekam syndrome 2EnrichmentEP3000.76
971Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB10.76
972Hyperlipoproteinemia, type iiiEnrichmentAPOE0.76
973Infantile myofibromatosisEnrichmentNOTCH30.76
974Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP20.76
975Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB40.76
976Intravascular large b-cell lymphomaEnrichmentBCL60.76
977Retinitis pigmentosa 14EnrichmentTEAD30.76
978Myostatin-related muscle hypertrophyEnrichmentMSTN0.76
979Pancreatic cancer 4EnrichmentBRCA10.76
980Thyroid hormone resistance syndromeEnrichmentTHRB0.76
981Cerebral creatine deficiency syndromeEnrichmentGAMT0.76
982Ovarian cancer 1EnrichmentBRIP10.76
983Tibial hemimeliaEnrichmentGLI30.76
984Myopia 6EnrichmentSCO20.76
985Hypospadias 1, x-linkedEnrichmentAR0.76
986Wilson-turner syndromeEnrichmentHDAC80.76
987Alopecia-intellectual disability syndrome 4EnrichmentCNOT10.76
988Rela fusion-positive ependymomaEnrichmentRELA0.76
989Lissencephaly 3EnrichmentCPAP0.76
990Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A0.76
991Charcot-marie-tooth disease type 2b2EnrichmentMED250.76
992Parietal foraminaEnrichmentMSX20.76
993Diffuse midline glioma, h3 k27m-mutantEnrichmentBRIP10.76
994Senior-loken syndrome 7EnrichmentAKT30.76
995Split hand-foot malformationEnrichmentLEF10.76
996Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A0.76
997SynpolydactylyEnrichmentGLI30.76
998Cleidocranial dysplasia 2EnrichmentCBFB0.76
999Seborrhea-like dermatitis with psoriasiform elementsEnrichmentZNF7500.76
1000X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP20.76
1001Lipodystrophy, familial partial, type 1EnrichmentNOTCH30.76
1002Bosch-boonstra-schaaf optic atrophy syndromeEnrichmentNR2F10.76
1003Neuroblastoma 7EnrichmentLMO10.76
1004Depressive disorderEnrichmentNOTCH30.76
1005Papillary renal cell carcinomaEnrichmentMET0.76
1006Camurati-engelmann diseaseEnrichmentTGFB10.76
1007Congenital fibrosarcomaEnrichmentTP530.76
1008High grade gliomaEnrichmentATM0.76
1009Stickler syndrome, type iiEnrichmentCOL1A10.76
1010Severe congenital neutropenia 7EnrichmentPIP4K2B0.76
1011Fibrolamellar carcinomaEnrichmentPRKACA0.76
1012Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F0.76
1013Diabetes mellitus, permanent neonatal, 4EnrichmentINS0.76
1014Congenital hemolytic anemiaEnrichmentG6PD0.76
1015Angiocentric gliomaEnrichmentMYB0.76
1016Enhanced s-cone syndromeEnrichmentNR2E30.76
1017Ventricular septal defect 2EnrichmentCITED20.76
1018Developmental and epileptic encephalopathy 78EnrichmentYY10.76
1019Otosclerosis 12EnrichmentSMARCA40.76
1020Coffin-siris syndrome 4EnrichmentSMARCA40.76
1021Cervix carcinomaEnrichmentTP530.76
1022Hodgkin's lymphomaEnrichmentTP530.76
1023Bardet-biedl syndrome 16EnrichmentAKT30.76
1024T-cell prolymphocytic leukemiaEnrichmentATM0.76
1025Hao-fountain syndromeEnrichmentUSP70.76
1026Smith-kingsmore syndromeEnrichmentMTOR0.76
102714q11.2 microduplication syndromeEnrichmentSUPT16H0.76
1028Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA30.76
1029Glucosephosphate dehydrogenase deficiencyEnrichmentG6PD0.76
1030Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA0.76
1031Inflammatory breast carcinomaEnrichmentBRCA10.76
1032EsotropiaEnrichmentTFAP2A0.76
103317q24.2 microdeletion syndromeEnrichmentPSMD120.76
10343p25.3 microdeletion syndromeEnrichmentBRPF10.76
1035Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA20.76
1036Acute myeloid leukemia without maturationEnrichmentNPM10.76
1037Cholestasis-pigmentary retinopathy-cleft palate syndromeEnrichmentMED120.76
1038Dystonia 28, childhood-onsetEnrichmentKMT2B0.76
1039Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL90.76
1040Familial isolated congenital aspleniaEnrichmentNKX2-50.76
1041Houge-janssens syndrome 3EnrichmentPPP2CA0.76
1042Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB10.76
1043Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK80.76
1044Metaphyseal anadysplasiaEnrichmentMMP130.76
1045Axenfeld-rieger syndromeEnrichmentPITX20.76
1046Peritoneum cancerEnrichmentBRCA10.76
1047Charcot-marie-tooth disease type 4dEnrichmentNDRG10.76
1048Lymphomatoid papulosisEnrichmentNPM10.76
1049Developmental and epileptic encephalopathy 76EnrichmentACTL6B0.76
1050Bilateral breast cancerEnrichmentBRCA10.76
1051Radioulnar synostosisEnrichmentSMAD60.76
1052Long-olsen-distelmaier syndromeEnrichmentRRAGC0.76
1053B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF30.76
1054Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC20.76
1055Med12-related disordersEnrichmentMED120.76
1056Postaxial polydactyly type bEnrichmentGLI30.76
1057Familial partial lipodystrophyEnrichmentPPARG0.76
1058Autosomal dominant nonsyndromic deafnessEnrichmentGATA30.76
1059Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A0.76
1060Blepharophimosis - intellectual disability syndrome, mkb typeEnrichmentMED120.76
1061Vacterl with hydrocephalusEnrichmentPTEN0.76
1062Deletion 5q35EnrichmentNKX2-50.76
1063Creatine deficiency disordersEnrichmentGAMT0.76
1064HyperinsulinismEnrichmentHNF4A0.76
1065Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF4A0.76
1066X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMAMLD10.76
1067Isolated atrial standstillEnrichmentNPPA0.76
1068Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionEnrichmentNR4A20.76
1069Malignant granular cell myoblastomaEnrichmentBRD70.76
1070Dentinogenesis imperfectaEnrichmentCOL1A20.76
1071TeratomaEnrichmentCTNNB10.76
1072Familial retinoblastomaEnrichmentRB10.76
1073Granular cell carcinomaEnrichmentBRD70.76
1074Non-syndromic sagittal craniosynostosisEnrichmentTWIST10.76
1075Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentKMT2A0.76
1076B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF30.76
1077Common variable immunodeficiency 12EnrichmentNFKB10.76
1078Juvenile polyposis of infancyEnrichmentPTEN0.76
1079Xeroderma pigmentosum group eEnrichmentDDB20.76
1080Lens subluxationEnrichmentTFAP2A0.76
1081Null pituitary adenomaEnrichmentMEN10.76
1082Familial patent arterial ductEnrichmentTFAP2B0.76
1083Silent pituitary adenomaEnrichmentMEN10.76
1084PseudohypoaldosteronismEnrichmentNR3C20.76
1085Pleomorphic rhabdomyosarcomaEnrichmentTP530.76
1086Tafro syndromeEnrichmentRUNX10.76
1087Progressive bulbar palsyEnrichmentMECP20.76
1088Paternal uniparental disomy of chromosome 6EnrichmentPLAGL10.76
1089Epilepsy-aphasia spectrumEnrichmentGRIN2A0.76
1090Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM10.76
1091Submucosal cleft palateEnrichmentUBB0.76
1092Campomelic dysplasia and related disordersEnrichmentSOX90.76
1093Cleft hard palateEnrichmentUBB0.76
1094Specific granule deficiencyEnrichmentSMARCD20.76
1095GigantismEnrichmentMEN10.76
1096BruxismEnrichmentMECP20.76
1097Stereotypic movement disorderEnrichmentFOXG1, JARID2, MECP20.74
1098Cerebrocostomandibular syndromeEnrichmentSNRPB0.72
1099Intellectual developmental disorder, x-linked, syndromic, kumar typeEnrichmentTHOC20.72
1100Beaulieu-boycott-innes syndromeEnrichmentTHOC60.72
1101Hypotrichosis 11EnrichmentSNRPE0.72
1102Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic faciesEnrichmentINTS10.72
1103Neurodevelopmental disorder with hypotonia, microcephaly, and seizuresEnrichmentCPSF30.72
1104Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentSRSF10.72
1105Myopia 27, autosomal dominantEnrichmentCPSF10.72
1106Immunodeficiency 127EnrichmentTHOC20.72
1107Chronic eosinophilic leukemiaEnrichmentFIP1L10.72
1108Mitochondrial dna depletion syndrome 4aEnrichmentFANCI, RANBP20.72
1109MyelofibrosisEnrichmentSRC, TET20.72
1110Essential thrombocythemiaEnrichmentTET2, TP530.72
1111Inflammatory bowel disease 1EnrichmentERCC2, IL60.72
1112Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentSETD1A, TNRC6B0.72
1113Congenital central hypoventilation syndromeEnrichmentBDNF, RET0.72
1114Primary hyperaldosteronismEnrichmentNR3C1, TP530.72
1115Ventricular septal defectEnrichmentSMARCA4, TBX50.72
1116Cowden syndromeEnrichmentAKT1, PTEN0.72
1117Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentRRM2B, SCO20.72
1118Syndromic intellectual disabilityEnrichmentKAT6A, MED16, TAF60.71
1119Alobar holoprosencephalyEnrichmentDLL1, GLI2, TGIF10.71
1120AzoospermiaEnrichmentHENMT1, MOV10L1, TDRD9, TDRKH0.71
1121Hyperlipoproteinemia, type iEnrichmentLPL0.66
1122Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B0.66
1123Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR0.66
1124Treacher collins syndrome 3EnrichmentPOLR1C0.66
1125Striatonigral degeneration, infantileEnrichmentNUP620.66
1126Neutral lipid storage disease with myopathyEnrichmentPNPLA20.66
1127Duane-radial ray syndromeEnrichmentIPO80.66
1128Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentDICER10.66
1129Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR3B0.66
1130Lipase deficiency, combinedEnrichmentLPL0.66
1131Dystonia 16EnrichmentPRKRA0.66
1132Leukoencephalopathy, progressive, with ovarian failureEnrichmentPOLR1C0.66
1133Immunodeficiency 75 with lymphoproliferationEnrichmentTET20.66
1134Charcot-marie-tooth disease, demyelinating, type 1iEnrichmentPOLR3B0.66
1135Short stature, oligodontia, dysmorphic facies, and motor delayEnrichmentPOLR3GL0.66
1136Nephrotic syndrome, type 17EnrichmentNUP850.66
1137Mitochondrial complex iv deficiency, nuclear type 19EnrichmentKAT140.66
1138Vertebral anomalies and variable endocrine and t-cell dysfunctionEnrichmentDICER10.66
1139Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B0.66
1140Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT10.66
1141Leukodystrophy, hypomyelinating, 11EnrichmentPOLR1C0.66
1142Familial lipoprotein lipase deficiencyEnrichmentLPL0.66
1143Tatton-brown-rahman syndromeEnrichmentDNMT3A0.66
1144Acrofacial dysostosis, cincinnati typeEnrichmentPOLR1A0.66
1145Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB0.66
1146Mitochondrial dna depletion syndrome 15EnrichmentTFAM0.66
1147HyperostosisEnrichmentPOLR3GL0.66
1148Cockayne syndrome type 3EnrichmentERCC60.66
1149Malignant granulosa cell tumor of the ovaryEnrichmentDICER10.66
1150Acute necrotizing encephalopathy of childhoodEnrichmentRANBP20.66
1151Semilobar holoprosencephalyEnrichmentDLL1, GLI2, TGIF10.66
1152Hypotrichosis simplexEnrichmentERCC2, SNRPE0.65
1153Aplastic anemiaEnrichmentIFNG, NBN0.64
1154Autosomal dominant macrothrombocytopeniaEnrichmentGP1BA, ITGA2B0.64
1155Autosomal non-syndromic agammaglobulinemiaEnrichmentSPI1, TCF30.64
1156Non-syndromic x-linked intellectual disabilityEnrichmentHCFC1, MECP2, MED12, UPF3B, USP9X, ZNF7110.63
1157Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC1, PRDX10.63
1158Mitochondrial dna depletion syndrome 4bEnrichmentRANBP2, SCO20.63
1159Arteriovenous malformations of the brainEnrichmentEGFR, IL6, KRAS0.61
1160Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, SMAD30.61
1161Tooth agenesisEnrichmentPOLR3GL, RANBP2, SUMO1, TGFA0.61
1162Brachydactyly, type a1EnrichmentIHH0.61
1163Cleidocranial dysplasia 1EnrichmentRUNX20.61
1164Desmoid disease, hereditaryEnrichmentCTNNB10.61
1165Craniosynostosis 1EnrichmentTWIST10.61
1166Dystonia 12EnrichmentKMT2B0.61
1167Type 1 diabetes mellitus 2EnrichmentINS0.61
1168Prognathism, mandibularEnrichmentCSNK2B0.61
1169RetinoblastomaEnrichmentRB10.61
1170Alagille syndrome 1EnrichmentJAG10.61
1171Keratoderma, palmoplantar, with deafnessEnrichmentMT-CO10.61
1172Ataxia-telangiectasiaEnrichmentATM0.61
1173Waardenburg syndrome, type 2aEnrichmentPOLR2F0.61
1174Juvenile polyposis syndromeEnrichmentSMAD40.61
1175Bleeding disorder, platelet-type, 16EnrichmentITGA2B0.61
1176Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsEnrichmentATRIP0.61
1177Acrocallosal syndromeEnrichmentGLI30.61
1178Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB40.61
1179Polycythemia veraEnrichmentATM0.61
1180Mycosis fungoidesEnrichmentCTLA40.61
1181Uvula, bifidEnrichmentUBB0.61
1182Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R0.61
1183Night blindness, congenital stationary, type 1bEnrichmentZNF4540.61
1184Aarskog-scott syndromeEnrichmentGLI30.61
1185Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF10.61
1186Trichothiodystrophy 1, photosensitiveEnrichmentERCC20.61
1187Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC20.61
1188Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX10.61
1189Pierpont syndromeEnrichmentTBL1XR10.61
1190Linear skin defects with multiple congenital anomalies 1EnrichmentCOX7B0.61
1191Spinocerebellar ataxia 4EnrichmentZFHX30.61
1192Stuve-wiedemann syndrome 1EnrichmentLIFR0.61
1193Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC0.61
1194Chilblain lupus 1EnrichmentATRIP0.61
1195Mitochondrial complex iv deficiency, nuclear type 2EnrichmentSCO20.61
1196Transposition of the great arteries, dextro-loopedEnrichmentBMP20.61
1197Alzheimer disease 4EnrichmentAPOE0.61
1198Cleft soft palateEnrichmentUBB0.61
1199Hepatitis c virusEnrichmentIFNG0.61
1200Nasopharyngeal carcinomaEnrichmentTP530.61
1201Chromosome 5q14.3 deletion syndrome, distalEnrichmentNEDD4L0.61
1202Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB10.61
1203Estrogen resistanceEnrichmentESR10.61
1204Caffey diseaseEnrichmentCOL1A10.61
1205Pituitary adenoma 1, multiple typesEnrichmentMEN10.61
1206Woolly hair, autosomal recessive 3EnrichmentRB10.61
1207Atrial standstill 2EnrichmentNPPA0.61
1208Microcephaly, postnatal progressive, with seizures and brain atrophyEnrichmentMED170.61
1209Seckel syndrome 5EnrichmentCPAP0.61
1210Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR0.61
1211Miller-dieker lissencephaly syndromeEnrichmentYWHAE0.61
1212Breast-ovarian cancer, familial 4EnrichmentRAD51D0.61
1213Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentCTLA40.61
1214Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE0.61
1215Cerebellar dysfunction with variable cognitive and behavioral abnormalitiesEnrichmentPOU4F10.61
1216Exudative vitreoretinopathy 7EnrichmentCTNNB10.61
1217Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphismEnrichmentTTC50.61
1218Intellectual developmental disorder, autosomal dominant 61EnrichmentMED130.61
1219Intellectual developmental disorder, autosomal dominant 57EnrichmentAUTS20.61
1220Hypotrichosis 8EnrichmentRB10.61
1221Galloway-mowat syndrome 4EnrichmentTP53RK0.61
1222Tethered spinal cord syndromeEnrichmentCREBBP0.61
1223Coffin-siris syndrome 2EnrichmentARID1A0.61
1224Desmoid tumorEnrichmentCTNNB10.61
1225Wieacker-wolff syndromeEnrichmentCCNH0.61
1226Chilblain lupusEnrichmentATRIP0.61
1227Proteosome-associated autoinflammatory syndromeEnrichmentPSMB40.61
1228Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentPERP0.61
1229Loeys-dietz syndrome 1EnrichmentSMAD20.61
1230Asparagine synthetase deficiencyEnrichmentCTLA40.61
1231Anaplastic astrocytomaEnrichmentTP530.61
1232Xanthinuria, type iiEnrichmentTSC20.61
1233Gingival overgrowthEnrichmentRET0.61
1234Myxoid liposarcomaEnrichmentDDIT30.61
1235Cleidocranial dysplasiaEnrichmentRUNX20.61
1236T-cell acute lymphoblastic leukemiaEnrichmentABL10.61
1237Intraocular pressure quantitative trait locusEnrichmentCREBBP0.61
1238Periventricular leukomalaciaEnrichmentARID1A0.61
1239Hereditary site-specific ovarian cancer syndromeEnrichmentRAD51D0.61
1240Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR10.61
1241End stage renal diseaseEnrichmentGATA30.61
1242Laryngeal squamous cell carcinomaEnrichmentPTEN0.61
1243Desmoplastic/nodular medulloblastomaEnrichmentARID20.61
1244Growth hormone secreting pituitary adenomaEnrichmentMEN10.61
1245SchwannomatosisEnrichmentSMARCB10.61
1246Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentNR4A20.61
1247Lessel-kreienkamp syndromeEnrichmentAGO20.61
1248Aip familial isolated pituitary adenomasEnrichmentMEN10.61
1249Childhood apraxia of speechEnrichmentRFC30.61
1250Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentCTLA40.61
1251Idiopathic camptocormiaEnrichmentRRM2B0.61
1252Adult-onset myasthenia gravisEnrichmentCTLA40.61
1253Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR0.61
1254Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK10.61
1255Melanoma of soft tissueEnrichmentCREB10.61
1256Tricuspid valve insufficiencyEnrichmentPTPN110.61
1257Spindle cell sarcomaEnrichmentMGA0.61
1258Mixed phenotype acute leukemia with tEnrichmentKMT2A0.61
1259Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX10.61
1260Renal cell carcinomaEnrichmentMET0.61
1261Thyroid hemiagenesisEnrichmentPSMD30.61
1262Stüve-wiedemann syndromeEnrichmentLIFR0.61
1263Testicular cancerEnrichmentSTK110.61
1264Hyperpigmentation of the skinEnrichmentUSP9X0.61
1265Apc-associated polyposis conditionsEnrichmentSTK110.61
1266Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC0.61
1267Saczary syndromeEnrichmentCTLA40.61
1268HypertelorismEnrichmentCOL1A1, MLLT1, MT-CO1, MT-CO2, MT-CO3, RET, TFAP2A0.59
1269Migraine with or without aura 1EnrichmentESR1, NOTCH30.58
1270Familial colorectal cancer type xEnrichmentATM, CHEK20.58
1271Oculopharyngeal muscular dystrophy 1EnrichmentPABPN10.57
1272Thrombocytopenia-absent radius syndromeEnrichmentRBM8A0.57
1273LissencephalyEnrichmentCPAP, FOXG1, NBN0.53
1274EpicanthusEnrichmentPTPN11, TFAP2A0.53
1275Juvenile myelomonocytic leukemiaEnrichmentKRAS, PTPN110.53
1276MegalocorneaEnrichmentNFIX0.51
1277Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentHCFC10.51
1278Wiedemann-rautenstrauch syndromeEnrichmentPOLR3A0.51
1279De sanctis-cacchione syndromeEnrichmentERCC60.51
1280Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN10.51
1281Sarcoma, synovialEnrichmentSS180.51
1282Burn-mckeown syndromeEnrichmentPOLR1A0.51
1283Uv-sensitive syndrome 1EnrichmentERCC60.51
1284Amyotrophic lateral sclerosis 9EnrichmentANG0.51
1285Adiponectin deficiencyEnrichmentADIPOQ0.51
1286Lipodystrophy, familial partial, type 6EnrichmentLIPE0.51
1287Infantile cerebellar-retinal degenerationEnrichmentPOLR3H0.51
1288Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.51
1289Lipodystrophy, familial partial, type 4EnrichmentPLIN10.51
1290Optic atrophy 9EnrichmentPOLR3H0.51
1291Neuropathy, hereditary sensory, type ieEnrichmentDNMT10.51
1292Uv-sensitive syndromeEnrichmentERCC60.51
1293Premature ovarian failure 11EnrichmentERCC60.51
1294Neurodegeneration, childhood-onset, with brain atrophyEnrichmentUBTF0.51
1295Neonatal pseudo-hydrocephalic progeroid syndromeEnrichmentPOLR3A0.51
1296Primary autosomal recessive microcephalyEnrichmentCDK6, CPAP, NUP37, PHC1, TAF130.51
1297Benign epilepsy with centrotemporal spikesEnrichmentGRIN2A, MAF, RBFOX1, RBFOX3, WWOX0.51
1298Cleft palate, isolatedEnrichmentNFIA, SATB2, SMARCA40.50
1299Kaposi sarcomaEnrichmentIL60.50
1300Mirror movements 1EnrichmentRAD510.50
1301Isolated growth hormone deficiency, type iiEnrichmentMED130.50
1302Branchiooculofacial syndromeEnrichmentTFAP2A0.50
1303Brachydactyly, type a2EnrichmentBMP20.50
1304Schimmelpenning-feuerstein-mims syndromeEnrichmentKRAS0.50
1305Cardiofaciocutaneous syndrome 1EnrichmentKRAS0.50
1306Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS0.50
1307Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE110.50
1308Glycogen storage disease iaEnrichmentG6PC10.50
1309PhenylketonuriaEnrichmentCOL1A10.50
1310Down syndromeEnrichmentGATA10.50
1311Microphthalmia, syndromic 3EnrichmentSOX20.50
1312Erythrocytosis, familial, 2EnrichmentFANCD20.50
1313Thyroid cancer, nonmedullary, 1EnrichmentTP530.50
1314AstigmatismEnrichmentGRIN2B0.50
1315Macular degeneration, age-related, 1EnrichmentAPOE0.50
1316Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA10.50
1317Autoimmune lymphoproliferative syndromeEnrichmentCASP100.50
1318Microtia-anotiaEnrichmentKMT2D0.50
1319Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B0.50
1320Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT30.50
1321Lipodystrophy, familial partial, type 3EnrichmentPPARG0.50
1322ChoroideremiaEnrichmentCHM0.50
1323Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK10.50
1324Saethre-chotzen syndromeEnrichmentTWIST10.50
1325Immunodeficiency, common variable, 1EnrichmentCTLA40.50
1326PilomatrixomaEnrichmentCTNNB10.50
1327Retinitis pigmentosa 26EnrichmentITGA40.50
1328CholangiocarcinomaEnrichmentBRCA10.50
1329Barrett esophagusEnrichmentERBB20.50
1330Aicardi-goutieres syndrome 1EnrichmentATRIP0.50
1331Spermatogenic failure 1EnrichmentNR5A10.50
1332Leptin deficiency or dysfunctionEnrichmentPPARG0.50
1333Alazami syndromeEnrichmentCTNNB10.50
1334Central hypoventilation syndrome, congenital, 1EnrichmentRET0.50
1335Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A0.50
1336Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesEnrichmentGAD10.50
1337Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR10.50
1338Intellectual developmental disorder with speech delay, autism, and dysmorphic faciesEnrichmentCNOT30.50
1339EnophthalmosEnrichmentCSNK2B0.50
1340SyndactylyEnrichmentCSNK2B0.50
1341Cardiofaciocutaneous syndromeEnrichmentKRAS0.50
1342Neonatal diabetes mellitusEnrichmentINS0.50
1343Intrahepatic cholestasis of pregnancyEnrichmentNR1H40.50
1344Orofacial cleftEnrichmentPPP1R13L0.50
1345Color blindnessEnrichmentNR2E30.50
1346Cerebrovascular diseaseEnrichmentNOTCH30.50
1347Aortic aneurysmEnrichmentSMAD30.50
1348Pilocytic astrocytomaEnrichmentKRAS0.50
1349ProlactinomaEnrichmentMEN10.50
1350Spastic quadriplegic cerebral palsyEnrichmentGAD10.50
1351Hemoglobin c diseaseEnrichmentCHEK20.50
1352Congenital blue dot cataractEnrichmentMAF0.50
1353Hereditary progressive cardiac conduction defectEnrichmentNKX2-50.50
1354Sick sinus syndromeEnrichmentMECP20.50
1355Mitral valve insufficiencyEnrichmentTBX50.50
1356Full schwannomatosisEnrichmentSMARCB10.50
1357Transposition of the great arteriesEnrichmentGATA40.50
1358Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.50
1359GliomaEnrichmentPTEN0.50
1360Haddad syndromeEnrichmentRET0.50
1361Orofacial clefting syndromeEnrichmentPPP1R13L0.50
1362Middle aortic syndromeEnrichmentJAG10.50
1363Clear cell papillary renal cell carcinomaEnrichmentPBRM10.50
1364Gingival fibromatosisEnrichmentREST0.50
1365Thrombotic microangiopathyEnrichmentATRIP0.50
1366Oculomotor apraxiaEnrichmentATM0.50
1367Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK10.50
1368MicrophthalmiaEnrichmentRARB, SOX2, TFAP2A0.50
1369AutismEnrichmentACTL6B, CAMK2G, CREBBP, KMT2B, KMT2D, MECP2, RBFOX1, TCF7L20.49
1370Connective tissue diseaseEnrichmentNKX3-2, NOTCH1, SMAD3, SOX90.49
1371Microphthalmia/coloboma 12EnrichmentRARB, YAP10.48
1372Diaphragmatic hernia, congenitalEnrichmentCDK8, GLI30.48
1373Alzheimer's diseaseEnrichmentAPOE, CSF1R0.48
1374Chronic myelomonocytic leukemiaEnrichmentSRSF20.47
1375Centralopathic epilepsyEnrichmentGRIN2A, MAF, RBFOX1, RBFOX3, WWOX0.46
1376MedulloblastomaEnrichmentCTNNB1, WRN0.44
1377PheochromocytomaEnrichmentMAX, RET0.44
1378Periventricular nodular heterotopiaEnrichmentBRCA1, NEDD4L0.44
1379Frontotemporal dementia 1EnrichmentANG, CSF1R0.43
1380Capillary malformations, congenitalEnrichmentCCNH0.42
1381Alzheimer disease 2EnrichmentAPOE0.42
1382Exudative vitreoretinopathy 1EnrichmentCTNNB10.42
1383Multiple endocrine neoplasia, type iiaEnrichmentRET0.42
1384Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentCPAP0.42
1385Bernard-soulier syndromeEnrichmentGP1BA0.42
1386Mannosidosis, alpha b, lysosomalEnrichmentZNF5640.42
1387Microcephaly 1, primary, autosomal recessiveEnrichmentCPAP0.42
1388Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentG6PD0.42
1389Kearns-sayre syndromeEnrichmentRRM2B0.42
1390Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.42
1391Vitamin d-dependent rickets, type 2aEnrichmentVDR0.42
1392Macrocephaly/autism syndromeEnrichmentPTEN0.42
1393Rheumatoid arthritis, systemic juvenileEnrichmentIL60.42
1394Major depressive disorderEnrichmentFKBP50.42
1395Deafness, autosomal recessive 63EnrichmentANAPC150.42
1396Night blindness, congenital stationary, type 1cEnrichmentZNF4540.42
1397Goldberg-shprintzen syndromeEnrichmentSKI0.42
1398Familial adenomatous polyposis 1EnrichmentSTK110.42
1399Rubinstein-taybi syndrome 2EnrichmentEP3000.42
1400Congenital heart defects, multiple types, 4EnrichmentGATA40.42
1401Cox deficiency, infantile mitochondrial myopathyEnrichmentSCO20.42
1402Ciliary dyskinesia, primary, 40EnrichmentE2F60.42
1403Follicular lymphomaEnrichmentBCL60.42
1404Transient neonatal diabetes mellitusEnrichmentPLAGL10.42
1405Night blindnessEnrichmentCHM0.42
1406HemangiomaEnrichmentPTEN0.42
1407Histiocytoid hemangiomaEnrichmentFOS0.42
1408HypoglycemiaEnrichmentG6PC10.42
1409Rare isolated myopiaEnrichmentSCO20.42
1410Persistent truncus arteriosusEnrichmentNKX2-50.42
1411Sleep disorderEnrichmentGRIN2B0.42
1412Idiopathic aplastic anemiaEnrichmentIFNG0.42
1413StrabismusEnrichmentFOXG1, KMT2D, NFIX, PTPN110.42
1414Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.41
1415Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.41
1416Macular degeneration, age-related, 5EnrichmentERCC60.41
1417Aminoacylase 1 deficiencyEnrichmentACTB0.41
1418Ectodermal dysplasiaEnrichmentRANBP20.41
1419Charcot-marie-tooth hereditary neuropathyEnrichmentTDRKH0.41
1420Coronary artery anomalyEnrichmentLPL0.41
1421Cerebral malariaEnrichmentCD360.41
1422DystoniaEnrichmentCAMK2B, KMT2B, MECP2, SATB20.41
1423Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B, FOXG1, FZR1, RBFOX1, WWOX, YWHAG0.40
1424Coloboma of maculaEnrichmentRARB, YAP10.40
1425Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A20.40
1426Familial hypercholesterolemiaEnrichmentAPOE, SMARCA40.40
1427Noonan syndrome and noonan-related syndromeEnrichmentKRAS, PTPN110.40
1428Primary hypereosinophilic syndromeEnrichmentFIP1L10.39
1429Williams-beuren syndromeEnrichmentBAZ1B, FKBP6, RFC20.38
1430Mitochondrial complex v deficiency, mitochondrial type 1EnrichmentMT-CO1, MT-CO2, MT-CO30.38
1431Neuropathy, ataxia, and retinitis pigmentosaEnrichmentMT-CO1, MT-CO2, MT-CO30.38
1432Striatonigral degeneration, infantile, mitochondrialEnrichmentMT-CO1, MT-CO2, MT-CO30.38
1433Camptodactyly of fingersEnrichmentMT-CO1, MT-CO2, MT-CO30.38
1434Hydrocephalus, congenital, 1EnrichmentCDK8, MED120.37
1435Angelman syndromeEnrichmentMECP20.36
1436Klippel-trenaunay-weber syndromeEnrichmentCCNH0.36
1437Branchiootorenal syndrome 1EnrichmentTFAP2A0.36
1438Machado-joseph diseaseEnrichmentATXN30.36
1439Weyers acrofacial dysostosisEnrichmentCTNNB10.36
1440Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentRRM2B0.36
1441Wolf-hirschhorn syndromeEnrichmentNELFA0.36
1442Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH0.36
1443Conotruncal heart malformationsEnrichmentNKX2-50.36
1444Cholestasis, progressive familial intrahepatic, 1EnrichmentNR1H40.36
1445Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGCK0.36
1446Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.36
1447Epilepsy, childhood absence 1EnrichmentRORB0.36
1448Waardenburg syndrome, type 4aEnrichmentPOLR2F0.36
1449Albinism, ocular, type iEnrichmentNR2E30.36
1450Hemangioma, capillary infantileEnrichmentCCNH0.36
1451Deafness, nonsyndromic sensorineural, mitochondrialEnrichmentMT-CO10.36
1452Parkinson disease 6, autosomal recessive early-onsetEnrichmentPINK10.36
1453Mitochondrial dna depletion syndrome 1EnrichmentSCO20.36
1454Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB10.36
1455Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.36
1456Basal cell carcinoma 1EnrichmentCCNH0.36
1457Granulomatosis with polyangiitisEnrichmentCTLA40.36
1458Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB10.36
1459Inguinal herniaEnrichmentACTL6A0.36
1460Intestinal pseudo-obstructionEnrichmentTFAP2B0.36
1461PancytopeniaEnrichmentRUNX10.36
1462Lipid metabolism disorderEnrichmentAPOE0.36
1463Chronic mucocutaneous candidiasisEnrichmentSTAT10.36
1464Double outlet right ventricleEnrichmentNKX2-50.36
1465Hereditary spherocytosisEnrichmentGPI0.36
1466Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB10.36
1467Waardenburg syndromeEnrichmentPOLR2F0.36
146846,xy disorder of sex developmentEnrichmentNR5A10.36
1469Kidney clear cell sarcomaEnrichmentYWHAE0.36
1470Nonsyndromic genetic hyperinsulinismEnrichmentGCK0.36
1471Primary ovarian insufficiencyEnrichmentCHEK2, NBN, NOTCH2, NR5A2, RICTOR, THBS10.35
1472Cardiomyopathy, dilated, 1aEnrichmentHAND2, LPL, NFATC20.35
1473West syndromeEnrichmentGRIN2B, MAF, MLLT1, TSC2, WWOX0.35
1474Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP20.34
1475Hyperlipidemia, familial combined, 3EnrichmentLPL0.34
1476Cockayne syndrome aEnrichmentERCC60.34
1477Myeloproliferative neoplasmEnrichmentDNMT3A0.34
1478Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.34
1479Rare syndromic intellectual disabilityEnrichmentUBTF0.34
1480Alzheimer disease, familial, 1EnrichmentAPOE, CSF1R0.34
1481Polycystic liver diseaseEnrichmentCTNNB1, HNF4A0.34
1482Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, HNF4A0.34
1483Body mass index quantitative trait locus 11EnrichmentAGRP, BDNF, NR0B2, POMC, PPARG0.32
1484Nevus, epidermalEnrichmentKRAS0.31
1485Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.31
1486Thyroid cancer, nonmedullary, 2EnrichmentPTEN0.31
1487Waardenburg syndrome, type 1EnrichmentPOLR2F0.31
1488Hypothyroidism, congenital, nongoitrous, 2EnrichmentNKX2-50.31
1489Glanzmann thrombasthenia 1EnrichmentITGA2B0.31
1490Waardenburg syndrome, type 2eEnrichmentPOLR2F0.31
1491Polycystic kidney disease 1EnrichmentTSC20.31
1492Branchiootorenal syndromeEnrichmentTFAP2A0.31
1493Pilomyxoid astrocytomaEnrichmentKRAS0.31
1494MegacolonEnrichmentAKT30.31
1495Common variable immunodeficiencyEnrichmentNFKB10.31
1496Focal epilepsyEnrichmentMECP20.31
1497Follicular thyroid carcinomaEnrichmentPTEN0.31
1498Hemolytic anemiaEnrichmentGPI0.31
1499Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCRH0.31
1500Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA0.31
1501Congenital hydrocephalusEnrichmentSMARCC10.31
1502Overgrowth syndromeEnrichmentMTOR0.31
1503Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA0.31
1504Moyamoya angiopathyEnrichmentABL10.31
1505Congenital nervous system abnormalityEnrichmentCAMK2B, CREBBP, CTNNB1, FOXG1, GAMT, KMT2D, MECP2, PTEN, TSC2, WWOX0.31
1506Nervous system diseaseEnrichmentCAMK2B, CREBBP, CTNNB1, FOXG1, GAMT, KMT2D, MECP2, PTEN, TSC2, WWOX0.31
1507Pituitary stalk interruption syndromeEnrichmentDNMT1, SMARCA20.31
1508MalariaEnrichmentCD36, CR1, G6PD0.30
1509Cockayne syndrome bEnrichmentERCC60.28
1510Melanoma, uvealEnrichmentSF3B10.28
1511Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B0.28
1512Inflammatory myofibroblastic tumorEnrichmentRANBP20.28
1513Familial adult myoclonic epilepsyEnrichmentYEATS20.28
1514Arthrogryposis, distal, type 1aEnrichmentMET0.27
1515Gastroesophageal refluxEnrichmentACTL6A0.27
1516Hemochromatosis, type 1EnrichmentBMP20.27
1517Renal hypodysplasia/aplasia 1EnrichmentRET0.27
1518Isolated growth hormone deficiency, type iaEnrichmentDNA20.27
1519Exudative vitreoretinopathyEnrichmentCTNNB10.27
1520Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.27
1521HypothyroidismEnrichmentRET0.27
1522Essential tremorEnrichmentZNF5280.27
1523Cataract - microcornea syndromeEnrichmentMAF0.27
1524Combined pituitary hormone deficiencyEnrichmentGLI20.27
1525Non-immune hydrops fetalisEnrichmentARID1A, KRAS, PTPN110.27
1526Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRIP10.24
1527Ellis-van creveld syndromeEnrichmentPRKACA0.24
1528PolydactylyEnrichmentSMAD60.24
1529Coronary heart disease 5EnrichmentG6PD0.24
1530Leukemia, acute lymphoblastic 3EnrichmentPAX50.24
1531Arteriovenous malformationEnrichmentCCNH0.24
1532Mhc class ii deficiencyEnrichmentNR2C2AP0.24
1533Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentCRADD0.24
1534Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.24
1535Hydrops fetalisEnrichmentFOXP30.24
1536Renal agenesis, bilateralEnrichmentRET0.24
1537Third-degree atrioventricular blockEnrichmentTET20.24
1538Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT10.24
1539Cockayne syndromeEnrichmentERCC60.24
1540Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX, RET0.24
1541Myocardial infarctionEnrichmentESR1, PSMA60.22
1542Aicardi-goutiares syndromeEnrichmentLSM110.21
1543Autosomal recessive non-syndromic intellectual disabilityEnrichmentCRADD, KDM5B, MED23, MED25, TTC50.21
1544Cat eye syndromeEnrichmentTFAP2A0.21
1545Cataract 30, multiple typesEnrichmentMAF0.21
1546Peters-plus syndromeEnrichmentPITX20.21
1547Stroke, ischemicEnrichmentNOTCH30.21
1548Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.21
1549Ciliary dyskinesia, primary, 3EnrichmentNFKB10.21
1550Aicardi-goutieres syndromeEnrichmentATRIP0.21
1551Optic nerve diseaseEnrichmentFOXG10.21
1552Isolated tracheo-esophageal fistulaEnrichmentBRIP10.21
1553Rare mitochondrial non-syndromic sensorineural deafnessEnrichmentMT-CO10.21
1554Ewing sarcomaEnrichmentSMARCA50.20
1555Diamond-blackfan anemia 1EnrichmentGATA1, TP530.20
1556Noonan syndrome 1EnrichmentKRAS, PTPN110.20
1557Brittle bone disorderEnrichmentCOL1A1, COL1A20.20
1558Pectus excavatumEnrichmentPTPN110.19
1559Mhc class ii deficiency 1EnrichmentNR2C2AP0.19
1560Immune deficiency diseaseEnrichmentATM0.19
1561AsthmaEnrichmentFKBP50.19
1562Epilepsy, idiopathic generalizedEnrichmentRORB0.19
1563Cardiomyopathy, familial hypertrophic, 9EnrichmentPMS20.19
1564NanophthalmosEnrichmentSOX20.19
1565Glycogen storage diseaseEnrichmentG6PC10.19
1566Heritable pulmonary arterial hypertensionEnrichmentCAV10.19
1567Leber hereditary optic neuropathy, modifier ofEnrichmentMT-CO1, MT-CO2, MT-CO30.18
1568Dyskeratosis congenitaEnrichmentNPM1, ZCCHC80.18
1569Developmental and epileptic encephalopathy 1EnrichmentMAF, WWOX0.17
1570Renal hypodysplasia/aplasia 3EnrichmentRET0.17
1571Early-onset parkinson's diseaseEnrichmentPINK10.17
1572Congenital long qt syndromeEnrichmentPTPN110.17
1573Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesEnrichmentMT-CO1, MT-CO2, MT-CO30.17
1574Hydrops fetalis, nonimmuneEnrichmentARID1A, PTPN110.16
1575RasopathyEnrichmentKRAS, PTPN110.16
1576Hypercholesterolemia, familial, 1EnrichmentSMARCA40.15
1577Neural tube defectsEnrichmentRAD9B0.15
1578Pulmonary disease, chronic obstructiveEnrichmentVDR0.15
1579Premature menopauseEnrichmentNBN0.15
1580Chromosome 1p36 deletion syndromeEnrichmentSKI0.15
1581Protein-deficiency anemiaEnrichmentGATA10.15
1582Multiple sclerosisEnrichmentNR1H30.13
1583CataractEnrichmentWRN0.13
1584Isolated macular dystrophyEnrichmentITGA40.13
1585Movement diseaseEnrichmentPOLR3A0.13
1586Anterior segment dysgenesisEnrichmentPITX20.12
1587Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.12
1588Kidney diseaseEnrichmentTSC10.12
1589Male infertility with spermatogenesis disorderEnrichmentKMT2D0.12
1590Hypertrophic cardiomyopathyEnrichmentPRKAG2, PTPN11, TRIM630.12
1591Wolff-parkinson-white syndromeEnrichmentPRKAG20.11
1592HypertensionEnrichmentMEN10.11
1593Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, MEF2C, PPARGC1A, TAF150.11
1594Long qt syndromeEnrichmentCALM1, CALM20.11
1595Dandy-walker syndromeEnrichmentKMT2D0.10
1596Sudden infant death syndromeEnrichmentCALM20.10
1597Cardiomyopathy, dilated, 1eEnrichmentMED120.10
1598Human immunodeficiency virus type 1EnrichmentIFNG0.09
1599Charcot-marie-tooth disease type 4EnrichmentNDRG10.09
1600Polycystic kidney diseaseEnrichmentHDAC80.09
1601Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentPOLR3B0.09
1602CakutEnrichmentGATA3, LIFR0.08
1603Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentMED250.08
1604Eye diseaseEnrichmentCHM, NR2E30.08
1605Pontocerebellar hypoplasiaEnrichmentCDC400.07
1606Diamond-blackfan anemiaEnrichmentGATA1, TP530.07
1607Macs syndromeEnrichmentSOX20.07
1608Centronuclear myopathyEnrichmentFOXP30.06
1609Leber plus diseaseEnrichmentMT-CO1, MT-CO2, MT-CO3, NR2E3, TEAD3, ZNF4540.06
1610Attention deficit-hyperactivity disorderEnrichmentMECP20.06
1611Cardiomyopathy, dilated, 1gEnrichmentPMS20.06
1612Cerebral palsyEnrichmentGRIN2B, SMARCA40.06
1613Congenital stationary night blindnessEnrichmentZNF4540.05
1614Kallmann syndromeEnrichmentPOLR2F0.05
1615Charcot-marie-tooth diseaseEnrichmentCTDP1, NDRG10.05
1616Autoinflammatory diseaseEnrichmentNLRC40.05
1617Mitochondrial diseaseEnrichmentMT-CO1, MT-CO2, MT-CO3, RRM2B, TOP3A0.04
1618Jeune thoracic dystrophyEnrichmentLBR0.04
1619SchizophreniaEnrichmentEHMT1, RBFOX1, SETD1A0.04
1620Focal segmental glomerulosclerosisEnrichmentNUP930.04
1621Auditory neuropathyEnrichmentNOTCH30.04
1622Sensorineural hearing lossEnrichmentBRF1, RET, RRM2B0.03
1623Asphyxiating thoracic dystrophyEnrichmentLBR0.03
1624Severe covid-19EnrichmentCASP100.03
1625Dilated cardiomyopathyEnrichmentNKX2-5, PPP1R13L, SCO2, TBX50.03
1626Visceral heterotaxy 5EnrichmentCITED20.02
1627Cystic fibrosisEnrichmentTGFB10.02
1628Peripheral nervous system diseaseEnrichmentCOX6A10.02
1629NeuropathyEnrichmentCOX6A10.02
1630Leigh syndrome, nuclearEnrichmentMT-CO1, MT-CO2, MT-CO30.02
1631Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentLBR0.02
1632Familial hypertrophic cardiomyopathyEnrichmentPRKAG20.02
1633Left ventricular noncompactionEnrichmentNKX2-50.02
1634Nephrotic syndromeEnrichmentNUP93, RUNX20.01
1635Optic atrophy plus syndromeEnrichmentNR2F1, POLR3H0.01
1636Leigh diseaseEnrichmentMT-CO1, MT-CO2, MT-CO30.01
1637Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMYO1C, REST0.01
1638Cone-rod dystrophy 2EnrichmentITGA4, NR2E30.01
1639Spastic ataxiaEnrichmentDNMT1, POLR3A0.01
1640Familial isolated dilated cardiomyopathyEnrichmentHAND2, TAF1A0.01
1641Fetal akinesia deformation sequence 1EnrichmentNUP880.00
1642Rare genetic deafnessEnrichmentESRRB, POLR2F0.00
1643Deafness, autosomal recessiveEnrichmentESRRB0.00
1644Autosomal recessive nonsyndromic deafnessEnrichmentESRRB0.00
1645Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentESRRB, MET0.00
1646Retinitis pigmentosaEnrichmentCHM, MT-CO1, MT-CO2, MT-CO3, NR2E3, RRM2B0.00
1647Hereditary retinal dystrophyEnrichmentATRIP, CHM, ITGA4, JAG1, NR2E3, TEAD3, ZNF4540.00
1648Fundus dystrophyEnrichmentATRIP, CHM, ITGA4, JAG1, NR2E3, TEAD3, ZNF4540.00

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