Innate Immune System

Pathway network for the Innate Immune System SuperPath

Sources:
  • Reactome

Pathways in the Innate Immune System SuperPath

#NameSourceGenes
1Innate Immune SystemReactome
(see all 1038) (see less)
2Immune SystemReactome
(see all 2033) (see less)
3Neutrophil degranulationReactome
(see all 470) (see less)

Gene overlap in member pathways for Innate Immune System SuperPath

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

Disorders associated with Innate Immune System SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Immunodeficiency due to a classical component pathway complement deficiencyEnrichmentC1QA, C1QB, C1QC, C1R, C1S, C2, C4A, C4B8.93
2Multisystem inflammatory syndrome in childrenEnrichmentIFI44, IFI44L, IFIH1, IFNA21, IFNA4, IFNA6, IFNAR2, IFNB1, IL22RA2, IRAK3, IRF3, RAB27A, TLR3, TLR6, TRAF3, TRIM698.73
3Systemic lupus erythematosusEnrichmentBLK, C4A, C4B, CR2, CTLA4, FCGR2A, FCGR2B, FCGR3B, HLA-DRB1, IL10, IRAK1, IRF5, ITGAM, PDCD1, PTPN22, SOCS1, STAT4, TLR7, TNFAIP3, TNFSF4, TREX1, UBE2L38.60
4Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CD209, CXCR1, HLA-C, IFNG, IL10, IL19, TLR38.33
5Immunodeficiency due to a late component of complement deficiencyEnrichmentC5, C6, C7, C8A, C8B, C8G, C97.82
6Behcet syndromeEnrichmentADA2, C4A, CCR1, ERAP1, HLA-B, IFNGR1, IL10, IL12A, IL23R, MEFV, NOD2, PSTPIP1, STAT4, TLR47.82
7C3 glomerulopathyEnrichmentCFH, CFHR1, CFHR2, CFHR3, CFHR55.58
8Herpes simplex virus encephalitisEnrichmentTBK1, TICAM1, TLR3, TRAF3, UNC93B15.58
9Autoinflammatory diseaseEnrichmentADA2, ELANE, IL1RN, IL36RN, MEFV, NLRC4, NLRP3, NOD2, PSMB8, RAB27A, SH2D1A, STXBP2, UNC13D5.04
10Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentC3, CD46, CFB, CFH, CFI4.84
11Alzheimer disease, familial, 1EnrichmentAPP, GRN, LPO, MPO, NOS3, PLAU, PSEN1, VCP4.83
12Afibrinogenemia, congenitalEnrichmentCFI, FGA, FGB, FGG4.47
13Neutropenia, severe congenital, 1, autosomal dominantEnrichmentCFD, ELANE, TCIRG14.38
14Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, RAF1, SOS14.32
15Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SOS14.25
16Oligoarticular juvenile idiopathic arthritisEnrichmentCD247, IL2RA, IL2RB, PTPN2, PTPN22, STAT44.16
17Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD247, IL2RA, IL2RB, PTPN2, PTPN22, STAT44.16
18Hemolytic uremic syndrome, atypical 1EnrichmentC3AR1, CFH, CFHR1, CFHR33.80
19MalariaEnrichmentCD36, CISH, CR1, FCGR2A, FCGR2B, HBB, ICAM1, IKBKG, MAPKAPK3, NOS2, TIRAP3.71
20Progressive non-fluent aphasiaEnrichmentGRN, PSEN1, TBK1, TREM2, VCP3.60
21Chronic granulomatous diseaseEnrichmentCYBA, CYBB, NCF1, NCF2, NCF43.60
22Granulomatosis with polyangiitisEnrichmentCTLA4, HLA-DPA1, HLA-DPB1, PRTN3, PTPN223.40
23Chronic mucocutaneous candidiasisEnrichmentCLEC7A, IL17F, IL17RA, IL17RC, STAT13.40
24Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, RIPK1, TGFB13.40
25C1q deficiency 1EnrichmentC1QA, C1QB, C1QC3.35
26Dysfibrinogenemia, congenitalEnrichmentFGA, FGB, FGG3.35
27Autosomal recessive cutis laxa type ii classic typeEnrichmentATP6V0A2, ATP6V1A, ATP6V1E13.35
28Familial dysfibrinogenemiaEnrichmentFGA, FGB, FGG3.35
29Familial hypofibrinogenemiaEnrichmentFGA, FGB, FGG3.35
30Genetic atypical hemolytic-uremic syndromeEnrichmentC3, CD46, CFH3.35
31Immunodeficiency, common variable, 1EnrichmentCTLA4, ICOS, NFKB2, TNFRSF13B3.30
32Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC42, PTPN11, YWHAZ3.30
33Idiopathic achalasiaEnrichmentCRLF1, HLA-DQA1, HLA-DQB1, NOS13.30
34Immunodeficiency by defective expression of mhc class iEnrichmentB2M, TAP1, TAP2, TAPBP3.30
35RasopathyEnrichmentATP6V1E1, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SOS13.29
36Atypical hemolytic-uremic syndromeEnrichmentC3, CD46, CFH, CFHR5, CFI, HBB3.27
37Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, IKBKB, IL7R, JAK3, LCK, PNP, PTPRC, RAG1, RAG2, ZAP703.25
38Cystic fibrosisEnrichmentCEACAM3, CEACAM6, FCGR2A, MIF, SERPINA1, SLC11A13.15
39Metachromatic leukodystrophyEnrichmentARSA, ARSB, PSAP3.12
40Alzheimer's diseaseEnrichmentGRN, MPO, PSEN1, VCP3.10
41Lung non-small cell carcinomaEnrichmentHRAS, KRAS, MAP2K1, NRAS, PIK3CA3.09
42Diffuse large b-cell lymphomaEnrichmentBTK, CD79B, CREBBP, FOXO1, MYD88, PTEN, SOCS1, STAT3, TP533.08
43Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA3.00
44Gallbladder cancerEnrichmentCTNNB1, KRAS, PIK3CA, TP533.00
45Cyclic neutropeniaEnrichmentCFD, ELANE2.92
46Common variable immunodeficiencyEnrichmentCD40LG, NFKB1, NFKB2, RAG2, TNFRSF13B2.92
47Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SOS12.91
48Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS2.77
49Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS2.77
50Hellp syndromeEnrichmentCD46, CFH, CFI2.77
51Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentEDAR, EDARADD, RANBP2, TRAF62.65
52Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentGRN, MASP2, OPTN, SOD12.65
53Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentCSTB, EDAR, EDARADD, RANBP22.65
54HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN2.65
55Immune deficiency diseaseEnrichmentCD27, COPB1, RAG2, RIPK1, SYK, UNC93B12.58
56AsthmaEnrichmentALOX5, CCL11, FKBP5, HLA-G, IL13, MUC72.58
57Frontotemporal dementia 1EnrichmentCHRNB4, CSF1R, DCTN1, GRN, PSEN1, TREM22.58
58Behavioral variant of frontotemporal dementiaEnrichmentGRN, PSEN1, VCP2.53
59LeukodystrophyEnrichmentARSA, DEGS1, POLR3A, POLR3B, RNF216, TMEM63A2.52
60Adult hepatocellular carcinomaEnrichmentCASP8, CTNNB1, PIK3CA, TP532.50
61Mycosis fungoidesEnrichmentCD28, CTLA4, TNFRSF1B2.47
62Hepatitis c virusEnrichmentCCR5, IFNG, IFNL32.47
63Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentEDAR, EDARADD, RANBP22.47
64Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT32.47
65High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, BCL6, MYC2.47
66Familial chilblain lupusEnrichmentSAMHD1, STING1, TREX12.47
67Adult-onset myasthenia gravisEnrichmentCTLA4, HLA-DQA1, TNFRSF11A2.47
68Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB32.47
69T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E2.47
70Saczary syndromeEnrichmentCD28, CTLA4, TNFRSF1B2.47
71Mucopolysaccharidosis, type viEnrichmentARSB, GUSB2.45
72Aggressive periodontitisEnrichmentCTSC, FPR12.45
73Amyloidosis, hereditary systemic 2EnrichmentB2M, FGA, LYZ2.40
74Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR1C, POLR3A, POLR3B2.40
75Systemic lupus erythematosus 16EnrichmentC1QA, C1R, C4A2.40
76Glycogen storage diseaseEnrichmentAGL, GAA, GYG12.26
77MicrocephalyEnrichmentABL1, ACTB, ACTG1, ATP6V0A1, COPB1, CSTB, CTNNB1, DDX3X, DIAPH1, DYNC1H1, EP300, MAPK1, NPC2, PAK3, PLA2G6, PSMC3, PTPN11, SNAP252.24
78Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP, CST32.23
79Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1EnrichmentTREM2, TYROBP2.23
80Neutropenia, severe congenital, x-linkedEnrichmentELANE, WAS2.23
81Wiskott-aldrich syndromeEnrichmentWAS, WIPF12.23
82Immunodeficiency 33EnrichmentIKBKG, IRAK42.23
83Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS2.23
84Complement component 6 deficiencyEnrichmentC6, C8B2.23
85Macular degeneration, age-related, 14EnrichmentC2, CFB2.23
86Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP1, NCKAP1L2.23
87Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA2.23
88Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG12.23
89Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD19, CD812.23
90Singleton-merten syndromeEnrichmentIFIH1, RIGI2.23
91Immunodeficiency 72EnrichmentNCKAP1, NCKAP1L2.23
92De novo thrombotic microangiopathy after kidney transplantationEnrichmentCFH, CFI2.23
93Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD882.23
94Periodontal ehlers-danlos syndromeEnrichmentC1R, C1S2.23
95Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A2, P4HB, SEC24D2.23
96Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, TP532.23
97Renal tubular acidosis, distal, 1EnrichmentATP6V0A4, ATP6V1B1, ATP6V1C22.13
983mc syndromeEnrichmentCOLEC10, COLEC11, MASP12.13
99Distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B1, ATP6V1C22.13
100Pulmonary disease, chronic obstructiveEnrichmentCHRNB4, MGST1, SERPINA12.04
101Omenn syndromeEnrichmentIL2RG, IL7R, PSMB10, RAG1, RAG22.01
102Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, CD79A, CD79B, PIK3CD, PIK3R12.01
103Primary bone dysplasiaEnrichmentCOL1A1, COL1A2, COPB1, CTSK, GALNS2.01
104Lip and oral cavity carcinomaEnrichmentABL1, HRAS, PIK3CA, TP531.99
105Autosomal dominant severe congenital neutropeniaEnrichmentELANE, TCIRG11.95
106Tooth agenesisEnrichmentEDA, EDA2R, EDAR, EDARADD, IRF6, POLR3GL, RANBP2, SUMO11.95
107Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentEDA, EDAR, RANBP21.92
108Temporal arteritisEnrichmentHLA-B, HLA-DRB1, PTPN221.92
109Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R21.92
110TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B1.92
111Ectodermal dysplasiaEnrichmentEDA, EDAR, RANBP21.92
112Hepatitis bEnrichmentIFNAR2, IFNGR1, IL10RB1.92
113TuberculosisEnrichmentCISH, MAPKAPK3, SLC11A11.92
114Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB1, IL6, MIF1.92
115Familial infantile bilateral striatal necrosisEnrichmentADAR, NUP54, NUP621.92
116MyelofibrosisEnrichmentCALR, JAK2, SH2B3, SRC1.92
117Multiple enchondromatosis, maffucci typeEnrichmentCOL2A1, HIF1A, IDH1, VHL1.92
118Essential thrombocythemiaEnrichmentCALR, JAK2, SH2B3, TP531.92
119B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, FLT3, HLA-C, TP531.92
120Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA1.91
121Leukemia, chronic myeloidEnrichmentABL1, KRAS, NRAS1.91
122Semantic dementiaEnrichmentGRN, PSEN1, TREM21.91
123Alzheimer's disease 1EnrichmentAPP, LPO, MPO1.91
124Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP, PSEN1, TREM21.91
125Combined immunodeficiencyEnrichmentARPC1B, CD27, ICOSLG, IL2RG, ZAP701.80
126OsteochondrodysplasiaEnrichmentCOL1A1, COL1A2, COPB1, CTSK, GALNS1.80
127Combined t cell and b cell immunodeficiencyEnrichmentARPC1B, CD27, ICOSLG, IL2RG, ZAP701.80
128Combined t and b cell immunodeficiencyEnrichmentARPC1B, CD27, ICOSLG, IL2RG, ZAP701.80
129Mucopolysaccharidosis iiiEnrichmentGNS, HGSNAT1.79
130Ehlers-danlos syndrome, periodontal type, 1EnrichmentC1R, C1S1.78
131Pompe disease, infantile-onsetEnrichmentGAA, PIK3CA1.78
132Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF1, NCF21.78
133Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS1.78
134Renal tubular acidosis, distal, 3, with or without sensorineural hearing lossEnrichmentATP6V0A4, ATP6V1B11.78
135Nasopharyngeal carcinomaEnrichmentNFKBIA, TP531.78
136Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R11.78
137Neutrophilic dermatosis, acute febrileEnrichmentMEFV, PTPN61.78
138Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentATP6V1B2, ATP6V1C11.78
139Large congenital melanocytic nevusEnrichmentHRAS, NRAS1.78
140Ehlers-danlos syndrome, periodontal type, 2EnrichmentC1R, C1S1.78
141Polr3-related leukodystrophyEnrichmentPOLR3A, POLR3B1.78
142Melanoma of soft tissueEnrichmentATF1, CREB11.78
143Familial drusenEnrichmentCFH, CFI1.78
144Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF11.73
145Lymphoma, non-hodgkin, familialEnrichmentB2M, CASP10, TP531.73
146Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM31.73
147Narcolepsy 1EnrichmentCTSH, HLA-DQB1, HLA-DRB1, TNFSF41.67
148Severe covid-19EnrichmentCASP10, FCN2, HLA-A, HLA-DQB1, IL10RB, ITGAV, JAK3, MUC5B, RBCK11.66
149Focal epilepsyEnrichmentSNAP25, SPTAN11.65
150Hemolytic anemiaEnrichmentGPI, HBB1.65
151Anemia, congenital dyserythropoietic, type iiiaEnrichmentKIF23, RACGAP11.65
152Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN11.65
153Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB11.65
154Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN11.65
155Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A, TNFRSF11B1.65
156Immunodeficiency, common variable, 2EnrichmentCR2, TNFRSF13B1.65
157Stormorken syndromeEnrichmentORAI1, STIM11.65
158Ovarian germ cell cancerEnrichmentCBL, FANCM1.65
159Severe cutaneous adverse reactionEnrichmentHLA-A, HLA-B1.65
160Sarcoidosis 1EnrichmentBTNL2, HLA-DRB11.65
161Immunodeficiency 31cEnrichmentIL21R, STAT11.65
162Psoriasis 14, pustularEnrichmentAP1S3, IL36RN1.65
163Ectodermal dysplasia 1, hypohidrotic, x-linkedEnrichmentEDA, EDA2R1.65
164Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A21.65
165Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA, SIPA11.65
166Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB91.65
167Intravascular large b-cell lymphomaEnrichmentBCL2, BCL61.65
168Primary cutaneous amyloidosisEnrichmentIL31RA, OSMR1.65
169Parkinson disease 15, autosomal recessive early-onsetEnrichmentFBXO7, SNCA1.65
170Lymphoproliferative syndromeEnrichmentITK, SH2D1A1.65
171Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A, TBK11.65
172Immunodeficiency 104, severe combinedEnrichmentIL7R, PTPRC1.65
173Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB11.65
174Immune system diseaseEnrichmentCDC42, PIK3CD1.65
175Acute myeloid leukemia without maturationEnrichmentFLT3, NPM11.65
176Lymphomatoid papulosisEnrichmentNPM1, TYK21.65
177Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A21.65
178Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB11.65
179Vacterl with hydrocephalusEnrichmentFANCB, PTEN1.65
180Malignant germ cell tumor of ovaryEnrichmentCBL, FANCM1.65
181Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM1, TYK21.65
182Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM1, VCP1.65
183Hepatocellular carcinomaEnrichmentCASP8, CTNNB1, IGF2R, PIK3CA, TP531.64
184MeningiomaEnrichmentAKT1, NF2, PIK3CA, PTEN, TRAF71.62
185Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA1.58
186Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK3, RAG1, RAG21.58
187Follicular lymphomaEnrichmentBCL2, BCL6, HLA-DRB11.58
188Diffuse cutaneous systemic sclerosisEnrichmentCCR6, HLA-DRB1, IRF51.58
189Non-immune hydrops fetalisEnrichmentCTSA, GUSB, HRAS, KRAS, NEU1, PTPN111.55
190LissencephalyEnrichmentACTG1, DYNC1H1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB31.54
191Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K11.50
192Myeloperoxidase deficiencyEnrichmentLPO, MPO1.50
193Anemia, autoimmune hemolyticEnrichmentSOCS1, TLR81.50
194Granulomatous disease, chronic, x-linkedEnrichmentCYBB, NCF11.50
195Macular degeneration, age-related, 1EnrichmentCFHR1, CFHR31.50
196Congenital generalized lipodystrophyEnrichmentAGPAT2, FOS1.50
197Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K11.50
198Hypomyelinating leukodystrophy 7EnrichmentPOLR3A, POLR3B1.50
199Lung sarcomatoid carcinomaEnrichmentKRAS, TP531.50
200Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF11.50
201Thrombotic microangiopathyEnrichmentCD46, TREX11.50
202Rheumatoid arthritisEnrichmentCIITA, IL10, IRF5, TLR11.47
203Primary biliary cholangitisEnrichmentIL12A, IL12RB1, IRF5, TNFSF151.47
204Aicardi-goutiares syndromeEnrichmentADAR, IFIH1, SAMHD1, TREX11.47
205Acute promyelocytic leukemiaEnrichmentNPM1, PML, STAT3, STAT5B, ZBTB161.47
206Carpal tunnel syndrome 1EnrichmentTTR1.46
207Ichthyosis hystrix, curth-macklin typeEnrichmentKRT11.46
208Keratolytic winter erythemaEnrichmentCTSB1.46
209Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR1.46
210Spondyloarthropathy 1EnrichmentHLA-B1.46
211Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB1.46
212Ceroid lipofuscinosis, neuronal, 4EnrichmentDNAJC51.46
213Sneddon syndromeEnrichmentADA21.46
214Gray platelet syndromeEnrichmentNBEAL21.46
215Leprosy 3EnrichmentTLR21.46
216Glycogen storage disease viEnrichmentPYGL1.46
217Glycoprotein storage diseaseEnrichmentGAA1.46
218Granulomatous disease, chronic, autosomal recessive, 4EnrichmentCYBA1.46
219Transcobalamin i deficiencyEnrichmentTCN11.46
220Metachromatic leukodystrophy due to saposin b deficiencyEnrichmentPSAP1.46
221Neuraminidase deficiencyEnrichmentNEU11.46
222Palmoplantar keratoderma, nonepidermolyticEnrichmentKRT11.46
223Griscelli syndrome, type 2EnrichmentRAB27A1.46
224Systemic lupus erythematosus 6EnrichmentITGAM1.46
225Buruli ulcerEnrichmentSLC11A11.46
226Immunodeficiency 34EnrichmentCYBB1.46
227Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR21.46
228Congenital disorder of glycosylation, type iirEnrichmentATP6AP21.46
229Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP1.46
230Eosinophil peroxidase deficiencyEnrichmentEPX1.46
231Scott syndromeEnrichmentANO61.46
232Congenital disorder of glycosylation, type iidEnrichmentB4GALT11.46
233Coronary heart disease 7EnrichmentCD361.46
234Macular degeneration, age-related, 11EnrichmentCST31.46
235Psoriasis 1EnrichmentHLA-C1.46
236Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB11.46
237Neurodegeneration with brain iron accumulation 3EnrichmentFTL1.46
238Erythrocyte amp deaminase deficiencyEnrichmentAMPD31.46
239Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.46
240Complement factor d deficiencyEnrichmentCFD1.46
241Hemolytic uremic syndrome, atypical 5EnrichmentC31.46
242Acne inversa, familial, 1EnrichmentNCSTN1.46
243Keloid formationEnrichmentASAH11.46
244Amyloidosis, hereditary systemic 1EnrichmentTTR1.46
245Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH11.46
246Sting-associated vasculopathy, infantile-onsetEnrichmentSTING11.46
247Developmental and epileptic encephalopathy 5EnrichmentSPTAN11.46
248Cardiac valvular dysplasia 1EnrichmentPLD11.46
249Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD551.46
250Melanosis, neurocutaneousEnrichmentNRAS1.46
251Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB1.46
252Spinocerebellar ataxia 43EnrichmentMME1.46
253Blood group, cromer systemEnrichmentCD551.46
254Mucopolysaccharidosis, type iiidEnrichmentGNS1.46
255Noonan syndrome 6EnrichmentNRAS1.46
256Immunodeficiency 43EnrichmentB2M1.46
257Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD1.46
258Asthma-related traits 7EnrichmentCHI3L11.46
259Retinitis pigmentosa 10EnrichmentIMPDH11.46
260Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.46
261AspartylglucosaminuriaEnrichmentAGA1.46
262Alopecia-intellectual disability syndrome 1EnrichmentAHSG1.46
263Corpus callosum, agenesis of, with facial anomalies and robin sequenceEnrichmentDDX3X1.46
264Naxos diseaseEnrichmentJUP1.46
265Noonan syndrome 13EnrichmentMAPK11.46
266Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.46
267Developmental and epileptic encephalopathy 117EnrichmentSNAP251.46
268Ichthyosis, annular epidermolytic, 2EnrichmentKRT11.46
269Impdh2 enzyme activity, variation inEnrichmentIMPDH21.46
270Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.46
271Immunodeficiency 85 and autoimmunityEnrichmentTOM11.46
272Parkinsonism with spasticity, x-linkedEnrichmentATP6AP21.46
273Trigonocephaly with short stature and developmental delayEnrichmentHUWE11.46
274Leukodystrophy, hypomyelinating, 18EnrichmentDEGS11.46
275Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A1.46
276Stankiewicz-isidor syndromeEnrichmentPSMD121.46
277AnhaptoglobinemiaEnrichmentHP1.46
278Properdin deficiency, x-linkedEnrichmentCFP1.46
279Charcot-marie-tooth disease type 2bEnrichmentRAB7A1.46
280Deafness, autosomal dominant 33EnrichmentATP11A1.46
281Intellectual developmental disorder, x-linked, syndromic, snijders blok typeEnrichmentDDX3X1.46
282Congenital disorder of glycosylation, type iccEnrichmentMAGT11.46
283Lipodystrophy, congenital generalized, type 1EnrichmentAGPAT21.46
284Sandhoff diseaseEnrichmentHEXB1.46
285Danon diseaseEnrichmentLAMP21.46
286Intellectual developmental disorder, x-linked, syndromic, hedera typeEnrichmentATP6AP21.46
287Intellectual developmental disorder, x-linked, syndromic, turner typeEnrichmentHUWE11.46
288Parkinson disease 24, autosomal dominantEnrichmentPSAP1.46
289Dialysis-related amyloidosisEnrichmentB2M1.46
290Sting-associated vasculopathy with onset in infancyEnrichmentSTING11.46
291Ankylosing spondylitis 1EnrichmentHLA-B1.46
292Keratosis palmoplantaris striata iiiEnrichmentKRT11.46
293Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.46
294Spinocerebellar ataxia 26EnrichmentEEF21.46
295Alzheimer disease 18EnrichmentADAM101.46
296Cardiomyopathy, dilated, 1wEnrichmentVCL1.46
297Leukodystrophy, hypomyelinating, 24EnrichmentATP11A1.46
298Immunodeficiency 40EnrichmentDOCK21.46
299Platelet glycoprotein iv deficiencyEnrichmentCD361.46
300Gaucher disease, atypical, due to saposin c deficiencyEnrichmentPSAP1.46
301Leukodystrophy, hypomyelinating, 19, transient infantileEnrichmentTMEM63A1.46
302Leber congenital amaurosis 11EnrichmentIMPDH11.46
303AcatalasemiaEnrichmentCAT1.46
304Cardiomyopathy, dilated, 1uEnrichmentPSEN11.46
305Porphyria, acute hepaticEnrichmentALAD1.46
306Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.46
307Deafness, autosomal recessive 91EnrichmentSERPINB61.46
308Congenital disorder of glycosylation, type irEnrichmentDDOST1.46
309Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.46
310Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduriaEnrichmentIDH11.46
311Chitotriosidase deficiencyEnrichmentCHIT11.46
312L-ferritin deficiencyEnrichmentFTL1.46
313Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndromeEnrichmentADA21.46
314Reticulate acropigmentation of kitamuraEnrichmentADAM101.46
315Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP251.46
316Syndromic x-linked intellectual disability turner typeEnrichmentHUWE11.46
317Purine nucleoside phosphorylase deficiencyEnrichmentPNP1.46
318Anemia, congenital, nonspherocytic hemolytic, 4EnrichmentGPI1.46
319Alpha-1-antitrypsin deficiencyEnrichmentSERPINA11.46
320Immunoglobulin light chain amyloidosisEnrichmentLYZ1.46
321Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathyEnrichmentCD591.46
322Macular degeneration, age-related, 9EnrichmentC31.46
323Krabbe disease, atypical, due to saposin a deficiencyEnrichmentPSAP1.46
324Immunodeficiency 105, severe combinedEnrichmentPTPRC1.46
325Acne inversa, familial, 3EnrichmentPSEN11.46
326Warburg micro syndrome 3EnrichmentRAB181.46
327Complement component 3 deficiency, autosomal recessiveEnrichmentC31.46
328Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.46
329Reactive arthritisEnrichmentHLA-B1.46
330Dync1h1-related disordersEnrichmentDYNC1H11.46
331Ddx3x-related neurodevelopmental disorderEnrichmentDDX3X1.46
332Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH11.46
333Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.46
334Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH11.46
335Combined low ldl and fibrinogenEnrichmentB4GALT11.46
336Neuropathy, hereditary motor and sensory, type vic, with optic atrophyEnrichmentPDXK1.46
337Amyloidosis, hereditary systemic 5EnrichmentLYZ1.46
338Baralle-macken syndromeEnrichmentCOPB11.46
339Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.46
340Cd45 deficiencyEnrichmentPTPRC1.46
341Epiphyseal dysplasia, multiple, 7EnrichmentCANT11.46
342Multisystem proteinopathyEnrichmentVCP1.46
343Griscelli syndromeEnrichmentRAB27A1.46
344Sickle cell-beta-thalassemia disease syndromeEnrichmentHBB1.46
345Neurodevelopmental disorder with central and peripheral motor dysfunctionEnrichmentNFASC1.46
346Amyloidosis, hereditary systemic 6EnrichmentB2M1.46
347Whim syndrome 2EnrichmentCXCR21.46
348Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunizationEnrichmentMME1.46
349Developmental and epileptic encephalopathy 104EnrichmentATP6V0A11.46
350Complement component 3 deficiencyEnrichmentC31.46
351Neurodevelopmental disorder with epilepsy and brain atrophyEnrichmentATP6V0A11.46
352Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN11.46
353Developmental delay with or without epilepsyEnrichmentSPTAN11.46
354Asah1-related disordersEnrichmentASAH11.46
355AmyloidosisEnrichmentTTR1.46
356Auditory neuropathy, autosomal dominant 2EnrichmentATP11A1.46
357Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.46
358Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN11.46
359Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.46
360Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathyEnrichmentCST31.46
361Charcot-marie-tooth disease type 2tEnrichmentMME1.46
362Palmoplantar keratoderma, epidermolytic, 2EnrichmentKRT11.46
363Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutationEnrichmentSERPINA11.46
364Mme-related autosomal dominant charcot marie tooth disease type 2EnrichmentMME1.46
365Epilepsy, early-onset, 3, with or without developmental delayEnrichmentATP6V0C1.46
366Thrombocytopenia 10EnrichmentPTPRJ1.46
367Hemoglobin c-beta-thalassemia syndromeEnrichmentHBB1.46
368Genetic hyperferritinemia without iron overloadEnrichmentFTL1.46
369Membranoproliferative glomerulonephritisEnrichmentC31.46
370Primary membranoproliferative glomerulonephritisEnrichmentC31.46
371Pompe disease, late-onsetEnrichmentGAA1.46
372Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.46
373Vegetative pyoderma gangrenosumEnrichmentPTPN61.46
374Neonatal alloimmune neutropeniaEnrichmentFCGR3B1.46
375Bullous pyoderma gangrenosumEnrichmentPTPN61.46
376Protein-losing enteropathyEnrichmentCD551.46
377Sickle cell s-o arab diseaseEnrichmentHBB1.46
378Syndromic x-linked intellectual disability hedera typeEnrichmentATP6AP21.46
379Sickle cell-beta zero-thalassemiaEnrichmentHBB1.46
380Pustular pyoderma gangrenosumEnrichmentPTPN61.46
381AtherosclerosisEnrichmentALOX51.46
382Glb1-related disordersEnrichmentGLB11.46
383Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR21.46
384Pulmonary arterial hypertension associated with connective tissue diseaseEnrichmentHLA-B1.46
385Hereditary amyloidosisEnrichmentTTR1.46
386Recurrent neisseria infections due to factor d deficiencyEnrichmentCFD1.46
387Polyarteritis nodosaEnrichmentADA21.46
388Sickle cell s-d punjab diseaseEnrichmentHBB1.46
389Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR21.46
390Pash syndromeEnrichmentNCSTN1.46
391Attrv30m amyloidosisEnrichmentTTR1.46
392Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.46
393Classic pyoderma gangrenosumEnrichmentPTPN61.46
394Sickle cell s-c diseaseEnrichmentHBB1.46
395Cathepsin a-related arteriopathy-strokes-leukoencephalopathyEnrichmentCTSA1.46
396Neurocutaneous melanocytosisEnrichmentNRAS1.46
397X-linked intellectual disability-hypotonia-movement disorder syndromeEnrichmentDDX3X1.46
398Sickle cell s-e diseaseEnrichmentHBB1.46
399Homozygous hemoglobin o arab diseaseEnrichmentHBB1.46
400Sickle cell s-other specified hemoglobin variantEnrichmentHBB1.46
401Attrv122i amyloidosisEnrichmentTTR1.46
402Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA1.45
403Interstitial lung disease 2EnrichmentATP11A, MUC5B, SFTPA1, SFTPA21.44
404Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCCNF, CHRNB4, CSF1R, DCTN1, GRN, HNRNPA2B1, MEF2C, OPTN, PSEN1, SOD1, SQSTM1, TBK1, TREM2, VCP1.35
405Hydrops fetalis, nonimmuneEnrichmentCTSA, GUSB, HRAS, NEU1, PTPN111.35
406PolymicrogyriaEnrichmentDYNC1H1, PSMC31.35
407Specific learning disabilityEnrichmentMAPK1, PTPN11, RPS6KA31.33
408Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB1, ITPR1, LAMA5, RNF2171.33
409Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB, RIPK1, TGFB11.33
410Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB31.33
411Patent ductus arteriosusEnrichmentFLNA, PSMC3, PTPN111.33
412Limited sclerodermaEnrichmentCCR6, HLA-DRB1, IRF51.33
413Aicardi-goutieres syndromeEnrichmentADAR, IFIH1, SAMHD1, TREX11.30
414Alzheimer disease 2EnrichmentNOS3, PLAU1.30
415LymphomaEnrichmentPTPN11, TP531.30
416Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, PTPN111.23
417Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH9, TUBB11.22
418Prognathism, mandibularEnrichmentCSNK2B, GPR75-ASB31.22
419Pseudohypoaldosteronism, type iiaEnrichmentCUL3, KLHL31.22
420Thrombocythemia 1EnrichmentCALR, SH2B31.22
421Glycogen storage disease ivEnrichmentGAA, RBCK11.22
422Combined cellular and humoral immune defects with granulomasEnrichmentRAG1, RAG21.22
423DysosteosclerosisEnrichmentTCIRG1, TNFRSF11A1.22
424Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB81.22
425Takayasu arteritisEnrichmentHLA-B, IL12B1.22
426Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG, TLR81.22
427Menkes diseaseEnrichmentATP7A, EIF2AK31.22
428Stuve-wiedemann syndrome 1EnrichmentIL6ST, LIFR1.22
429Mednik syndromeEnrichmentAP1B1, AP1S11.22
430Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R11.22
431Bacteremia 2EnrichmentCISH, MAPKAPK31.22
432Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA2B1, VCP1.22
433Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB81.22
434Cold-induced sweating syndromeEnrichmentCLCF1, CRLF11.22
435Frontometaphyseal dysplasiaEnrichmentFLNA, MAP3K71.22
436Immunodeficiency 14EnrichmentPIK3CD, PIK3R11.22
437Intraocular pressure quantitative trait locusEnrichmentCREBBP, ZEB11.22
438Immunodeficiency 44EnrichmentIFNAR2, STAT21.22
439High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A21.22
440Cole-carpenter syndromeEnrichmentP4HB, SEC24D1.22
441EnchondromatosisEnrichmentHIF1A, IDH11.22
442Multiple epiphyseal dysplasiaEnrichmentCANT1, COL2A11.22
443Stüve-wiedemann syndromeEnrichmentIL6ST, LIFR1.22
444Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB1, PTPN221.22
445Neuronal ceroid lipofuscinosisEnrichmentCTSD, CTSF, DNAJC5, KCTD7, MEFV1.21
446Bladder cancerEnrichmentCTNNB1, HRAS, KRAS, PIK3CA, TP531.18
447Leukocyte adhesion deficiency, type iEnrichmentITGB21.17
448Periodontitis, aggressive, 1EnrichmentCTSC1.17
449Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.17
450Spinal muscular atrophy with progressive myoclonic epilepsyEnrichmentASAH11.17
451Haim-munk syndromeEnrichmentCTSC1.17
452Farber lipogranulomatosisEnrichmentASAH11.17
453Mucopolysaccharidosis, type iiicEnrichmentHGSNAT1.17
454VitreoretinochoroidopathyEnrichmentFTH11.17
455Papillon-lefevre syndromeEnrichmentCTSC1.17
456ArgininemiaEnrichmentARG11.17
457Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.17
458Autism x-linked 2EnrichmentHUWE11.17
459Niemann-pick disease, type c2EnrichmentNPC21.17
460Alzheimer disease 3EnrichmentPSEN11.17
461Quebec platelet disorderEnrichmentPLAU1.17
462Immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasiaEnrichmentMAGT11.17
463Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.17
464Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathyEnrichmentKRT11.17
465Pick disease of brainEnrichmentPSEN11.17
466Hemophagocytic lymphohistiocytosis, familial, 3EnrichmentUNC13D1.17
467Leukoencephalopathy, cystic, without megalencephalyEnrichmentRNASET21.17
468Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.17
469Retinitis pigmentosa 50EnrichmentFTH11.17
470Mononeuropathy of the median nerve, mildEnrichmentTTR1.17
471Glycogen storage disease xvEnrichmentGYG11.17
472Adenine phosphoribosyltransferase deficiencyEnrichmentAPRT1.17
473Retinitis pigmentosa 73EnrichmentHGSNAT1.17
474Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentCYB5R31.17
475Congenital disorder of glycosylation, type itEnrichmentPGM11.17
476GalactosialidosisEnrichmentCTSA1.17
477Mucopolysaccharidosis, type viiEnrichmentGUSB1.17
478Fatty liver disease 1EnrichmentATG71.17
479Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC31.17
480Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.17
481Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeEnrichmentSNAP291.17
482Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN11.17
483Glycogen storage disease iiiEnrichmentAGL1.17
484Polyglucosan body myopathy 2EnrichmentGYG11.17
485Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderEnrichmentCDK131.17
486Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.17
487Hyperferritinemia with or without cataractEnrichmentFTL1.17
488Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.17
489Gm2-gangliosidosis, ab variantEnrichmentGM2A1.17
490Spastic paraplegia 70, autosomal recessiveEnrichmentARHGAP91.17
491Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.17
492Osteopetrosis, autosomal recessive 1EnrichmentTCIRG11.17
493Stevens-johnson syndromeEnrichmentHLA-B1.17
494Kala-azar 2EnrichmentGSTP11.17
495Mitochondrial complex i deficiency, nuclear type 36EnrichmentNDUFC21.17
496Combined saposin deficiencyEnrichmentPSAP1.17
497Hemochromatosis, type 5EnrichmentFTH11.17
498Glycogen storage disease xiiEnrichmentALDOA1.17
499Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.17
500Spinocerebellar ataxia, autosomal recessive 31EnrichmentATG71.17
501Preterm premature rupture of the membranesEnrichmentMMP81.17
502Metaphyseal anadysplasia 2EnrichmentMMP91.17
503Peeling skin syndrome 6EnrichmentFLG21.17
504Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.17
505Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.17
506Hemoglobin lepore-beta-thalassemia syndromeEnrichmentHBB1.17
507Deafness, autosomal dominant 84EnrichmentATP11A1.17
508Schizophrenia 19EnrichmentCPNE11.17
50917q24.2 microdeletion syndromeEnrichmentPSMD121.17
510Combined psap deficiencyEnrichmentPSAP1.17
511Charcot-marie-tooth disease, axonal, type 2tEnrichmentMME1.17
512Ritscher-schinzel syndrome 3EnrichmentVPS35L1.17
513Metaphyseal anadysplasiaEnrichmentMMP91.17
514Multiple benign circumferential skin creases on limbsEnrichmentTUBB1.17
515Childhood-onset epilepsy syndromeEnrichmentATP6V0C1.17
516Adenosine monophosphate deaminase deficiencyEnrichmentAMPD31.17
517Immunodeficiency 133EnrichmentARPC51.17
518Neurodegeneration with brain iron accumulation 9EnrichmentFTH11.17
519Niemann-pick disease type c, severe perinatal formEnrichmentNPC21.17
520Niemann-pick disease type c, severe early infantile neurologic onsetEnrichmentNPC21.17
521Niemann-pick disease type c, juvenile neurologic onsetEnrichmentNPC21.17
522Niemann-pick disease type c, adult neurologic onsetEnrichmentNPC21.17
523GlycoproteinosisEnrichmentNEU11.17
524Sickle cell s-lepore diseaseEnrichmentHBB1.17
525Common variable immunodeficiency 12EnrichmentNFKB11.17
526Niemann-pick disease type c, late infantile neurologic onsetEnrichmentNPC21.17
527Hereditary methemoglobinemiaEnrichmentCYB5R31.17
528Combined deficiency of sialidase and beta galactosidaseEnrichmentCTSA1.17
529Fanconi anemia, complementation group aEnrichmentFANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, VHL1.17
530ThrombocytopeniaEnrichmentFGG, MYH9, NBEAL2, PROS1, PTPN11, SRC, WAS1.15
531Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3001.15
532Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA1.15
533Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3001.15
534Adrenocortical carcinomaEnrichmentCTNNB1, TP531.15
535Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA1.15
536Autosomal recessive distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B11.15
537Protein-deficiency anemiaEnrichmentHBB, NRAS1.14
538Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS, PTEN1.13
539Thrombophilia due to thrombin defectEnrichmentF13A1, F2, FGA1.13
540Motor neuron diseaseEnrichmentOPTN, SOD1, TBK11.13
541Follicular thyroid carcinomaEnrichmentHRAS, NRAS, PTEN1.13
542Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR3, PTPN111.12
543Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.12
544MacrodactylyEnrichmentPIK3CA1.12
545Complement component 4, partial deficiency ofEnrichmentSERPING11.12
546Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS11.12
547MetachondromatosisEnrichmentPTPN111.12
548Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.12
549Deafness, congenital, with onychodystrophy, autosomal dominantEnrichmentATP6V1B21.12
5503mc syndrome 1EnrichmentMASP11.12
551Carboxypeptidase n deficiencyEnrichmentCPN11.12
552Immunodeficiency 103 fungal infectionsEnrichmentCARD91.12
553Complement component 2 deficiencyEnrichmentC21.12
554Ramon syndromeEnrichmentELMO21.12
555Baraitser-winter syndrome 1EnrichmentACTB1.12
556Coffin-lowry syndromeEnrichmentRPS6KA31.12
557Oculoectodermal syndromeEnrichmentKRAS1.12
558Thrombocytopenia 1EnrichmentWAS1.12
559Intellectual developmental disorder, x-linked 30EnrichmentPAK31.12
560Incontinentia pigmentiEnrichmentIKBKG1.12
561Neuronopathy, distal hereditary motor, x-linkedEnrichmentATP7A1.12
562Complement component 5 deficiencyEnrichmentC51.12
563Legionnaire diseaseEnrichmentTLR51.12
564PycnodysostosisEnrichmentCTSK1.12
565Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.12
566Noonan syndrome 5EnrichmentRAF11.12
567Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.12
568Cinca syndromeEnrichmentNLRP31.12
569Immunodeficiency 68EnrichmentMYD881.12
570Noonan syndrome 4EnrichmentSOS11.12
571Caspase 8 deficiencyEnrichmentCASP81.12
572Basal laminar drusenEnrichmentCFH1.12
573Deafness, autosomal dominant 17EnrichmentMYH91.12
574Keratoendotheliitis fugax hereditariaEnrichmentNLRP31.12
575Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.12
576Pyogenic sterile arthritis, pyoderma gangrenosum, and acneEnrichmentPSTPIP11.12
577Tubulointerstitial kidney disease, autosomal dominant 2EnrichmentMUC11.12
578Complement component 7 deficiencyEnrichmentC71.12
579Macroglobulinemia, waldenstrom 1EnrichmentMYD881.12
580Melorheostosis, isolatedEnrichmentMAP2K11.12
581Megalencephaly, autosomal dominantEnrichmentPIK3CA1.12
582Prothrombin deficiency, congenitalEnrichmentF21.12
583Hemolytic uremic syndrome, atypical 4EnrichmentCFB1.12
584Schwannomatosis, vestibularEnrichmentNF21.12
585Vitiligo-associated multiple autoimmune disease susceptibility 1EnrichmentNLRP11.12
586Macular degeneration, age-related, 4EnrichmentCFH1.12
587Immunodeficiency 83 viral infectionsEnrichmentTLR31.12
588Leopard syndrome 1EnrichmentPTPN111.12
589Familial cold autoinflammatory syndrome 1EnrichmentNLRP31.12
590Cardiomyopathy, dilated, 1nnEnrichmentRAF11.12
591Thrombophilia due to protein s deficiency, autosomal dominantEnrichmentPROS11.12
592Cowden syndrome 5EnrichmentPIK3CA1.12
593Polycystic lung diseaseEnrichmentCCR21.12
594Immunodeficiency 39 viral infectionsEnrichmentIRF71.12
595Tenorio syndromeEnrichmentRNF1251.12
596Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.12
597Bacteremia 1EnrichmentTIRAP1.12
598Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM21.12
599Bleeding disorder, platelet-type, 18EnrichmentRASGRP21.12
600Immunodeficiency 38 with basal ganglia calcificationEnrichmentISG151.12
601Leprosy 5EnrichmentTLR11.12
602Griscelli syndrome, type 1EnrichmentMYO5A1.12
603Fetal encasement syndromeEnrichmentCHUK1.12
604Immunodeficiency, common variable, 6EnrichmentCD811.12
605Encephalopathy, acute, infection-induced 7EnrichmentIRF31.12
606Cutis laxa, autosomal recessive, type iidEnrichmentATP6V1A1.12
607Complement component 8 deficiency, type iEnrichmentC8A1.12
608Wiskott-aldrich syndrome 2EnrichmentWIPF11.12
609Macular degeneration, age-related, 15EnrichmentC91.12
610Thrombophilia due to protein s deficiency, autosomal recessiveEnrichmentPROS11.12
611Immunodeficiency 20EnrichmentFCGR3A1.12
612Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.12
613Eculizumab, poor response toEnrichmentC51.12
61446,xy sex reversal 6EnrichmentMAP3K11.12
615Singleton-merten syndrome 1EnrichmentIFIH11.12
616Blau syndromeEnrichmentNOD21.12
617Hemolytic uremic syndrome, atypical 3EnrichmentCFI1.12
618Frontometaphyseal dysplasia 2EnrichmentMAP3K71.12
619Muckle-wells syndromeEnrichmentNLRP31.12
620Encephalopathy, acute, infection-induced 6EnrichmentTICAM11.12
621Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP11.12
622Macular degeneration, age-related, 13EnrichmentCFI1.12
623Cerebral cavernous malformations 4EnrichmentPIK3CA1.12
624Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.12
625Immunodeficiency 15bEnrichmentIKBKB1.12
626Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemiaEnrichmentPSTPIP11.12
627Interstitial lung disease 1EnrichmentSFTPA11.12
628Spinocerebellar ataxia, autosomal recessive 25EnrichmentATG51.12
629Deafness, autosomal dominant 34, with or without inflammationEnrichmentNLRP31.12
630Immunodeficiency 81EnrichmentLCP21.12
631Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.12
632Immunodeficiency 15aEnrichmentIKBKB1.12
633Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.12
634Immunodeficiency 95EnrichmentIFIH11.12
635Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.12
636Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.12
637Knobloch syndrome 2EnrichmentPAK21.12
638Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.12
639Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.12
640Short syndromeEnrichmentPIK3R11.12
641Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR71.12
642Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW111.12
643Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.12
644Bone marrow failure syndrome 5EnrichmentTP531.12
645Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.12
646C1q deficiency 3EnrichmentC1QC1.12
647Ficolin 3 deficiencyEnrichmentFCN31.12
648Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.12
649Okt4 epitope deficiencyEnrichmentCD41.12
650Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.12
651Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B1.12
652Systemic lupus erythematosus 1EnrichmentTLR51.12
653Vascular malformation, primary intraosseousEnrichmentELMO21.12
654Complement component 4a deficiencyEnrichmentC4A1.12
655X-linked immunodeficiency 74EnrichmentTLR71.12
656Papilloma of choroid plexusEnrichmentTP531.12
657Basal cell carcinoma 7EnrichmentTP531.12
658Immunodeficiency 132aEnrichmentTRAF31.12
659Isolated growth hormone deficiency type iiiEnrichmentBTK1.12
660Complement factor h deficiencyEnrichmentCFH1.12
661Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalitiesEnrichmentRBSN1.12
662Respiratory papillomatosis, juvenile recurrent, congenitalEnrichmentNLRP11.12
663Type 1 diabetes mellitus 19EnrichmentIFIH11.12
664Immunodeficiency 132bEnrichmentTRAF31.12
665Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.12
666Systemic lupus erythematosus 17EnrichmentTLR71.12
667Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.12
668Anaplastic thyroid carcinomaEnrichmentTP531.12
669Multiple congenital anomalies-neurodevelopmental syndrome, x-linkedEnrichmentOTUD51.12
670Cardioacrofacial dysplasia 2EnrichmentPRKACB1.12
671Occipital horn syndromeEnrichmentATP7A1.12
672Candidiasis, familial, 4EnrichmentCLEC7A1.12
673Familial cold autoinflammatory syndrome 4EnrichmentNLRC41.12
674Immunodeficiency 39EnrichmentIRF71.12
675Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.12
676Immunodeficiency 101EnrichmentPOLR3F1.12
677Asthma-related traits 5EnrichmentIRAK31.12
678Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.12
679Houge-janssens syndrome 2EnrichmentPPP2R1A1.12
680Leukodystrophy, hypomyelinating, 21EnrichmentPOLR3K1.12
681Immunodeficiency 25EnrichmentCD2471.12
682Autoinflammation with infantile enterocolitisEnrichmentNLRC41.12
683Systemic lupus erythematosus 10EnrichmentIRF51.12
684Hemifacial myohyperplasiaEnrichmentPIK3CA1.12
685Deafness, autosomal dominant 5EnrichmentGSDME1.12
686Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.12
687Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.12
688Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A1.12
689Ataxia-telangiectasia-like disorder 1EnrichmentMRE111.12
690Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.12
691Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.12
692Lymphoproliferative syndrome 1EnrichmentITK1.12
693Becker nevus syndromeEnrichmentACTB1.12
694Celiac disease 4EnrichmentMYO9B1.12
695Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH1.12
696MelorheostosisEnrichmentMAP2K11.12
697Dystonia-deafness syndrome 1EnrichmentACTB1.12
698Complement factor i deficiencyEnrichmentCFI1.12
699Treacher collins syndrome 2EnrichmentPOLR1D1.12
700Immunodeficiency 67EnrichmentIRAK41.12
701Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.12
702Leopard syndrome 2EnrichmentRAF11.12
703Lethal congenital contracture syndrome 5EnrichmentDNM21.12
704Blood group, chido/rodgers systemEnrichmentC4A1.12
705Complement component 4b deficiencyEnrichmentC4B1.12
706Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC1.12
707Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.12
708Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD1.12
709Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.12
710Masp2 deficiencyEnrichmentMASP21.12
711Zimmermann-laband syndrome 2EnrichmentATP6V1B21.12
712Alzheimer disease 17EnrichmentTREM21.12
713Long qt syndrome 16EnrichmentCALM31.12
714Palmoplantar carcinoma, multiple self-healingEnrichmentNLRP11.12
715Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP61.12
716Dengue virusEnrichmentCD2091.12
717Mannose-binding lectin deficiencyEnrichmentMBL21.12
718MelioidosisEnrichmentTLR51.12
719Hemolytic uremic syndrome, atypical 2EnrichmentCD461.12
720Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.12
721Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeEnrichmentALPK11.12
722Immunodeficiency, common variable, 3EnrichmentCD191.12
723Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.12
724Macular degeneration, age-related, 10EnrichmentTLR41.12
725Autoinflammation with arthritis and vasculitisEnrichmentTBK11.12
726Complement component 9 deficiencyEnrichmentC91.12
727Inflammatory bowel disease 14EnrichmentIRF51.12
728Macular dystrophy, patterned, 3EnrichmentMAPKAPK31.12
729Complement component 8 deficiency, type iiEnrichmentC8B1.12
730Pregnancy loss, recurrent 2EnrichmentF21.12
731Ductal carcinoma in situEnrichmentTP531.12
732Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.12
733C3 glomerulopathy 3EnrichmentCFHR51.12
734Heme oxygenase 1 deficiencyEnrichmentHMOX11.12
735Protein s deficiencyEnrichmentPROS11.12
736Triokinase and fmn cyclase deficiency syndromeEnrichmentTKFC1.12
737Complement factor b deficiencyEnrichmentCFB1.12
738Immunodeficiency 22EnrichmentLCK1.12
739Cardioacrofacial dysplasia 1EnrichmentPRKACA1.12
740Thrombocytopenia 6EnrichmentSRC1.12
741Singleton-merten syndrome 2EnrichmentRIGI1.12
742Was-related disordersEnrichmentWAS1.12
743Takenouchi-kosaki syndromeEnrichmentCDC421.12
744Myeloproliferative/lymphoproliferative neoplasms, familialEnrichmentDDX411.12
745Cutis laxa, autosomal recessive, type iicEnrichmentATP6V1E11.12
746Corticobasal syndromeEnrichmentTBK11.12
747Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.12
748Immunodeficiency 53EnrichmentRELB1.12
749Bartsocas-papas syndrome 2EnrichmentCHUK1.12
750Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.12
751Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.12
752Menke-hennekam syndrome 1EnrichmentCREBBP1.12
753Immunodeficiency 79EnrichmentCD41.12
754Autoinflammation with arthritis and dyskeratosisEnrichmentNLRP11.12
755Pseudo-torch syndrome 2EnrichmentUSP181.12
756Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.12
757Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.12
758Encephalopathy, acute, infection-induced 8EnrichmentTBK11.12
759TrigonitisEnrichmentRAF11.12
760Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2EnrichmentTREM21.12
761Serum amyloid a amyloidosisEnrichmentSAA11.12
762Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.12
763Thyroid gland undifferentiated carcinomaEnrichmentTP531.12
764Primary intraosseous venous malformationEnrichmentELMO21.12
765Aicardi-goutieres syndrome 7EnrichmentIFIH11.12
766Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.12
767Adenoid ameloblastomaEnrichmentCTNNB11.12
768Long qt syndrome 15EnrichmentCALM21.12
769Baraitser-winter syndromeEnrichmentACTB1.12
770Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK1.12
771C1q deficiency 2EnrichmentC1QB1.12
772Alpk1-related autoinflammatory diseaseEnrichmentALPK11.12
773Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP21.12
774Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP31.12
775Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.12
776Congenital fibrinogen deficiencyEnrichmentFGG1.12
777Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.12
778Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH1.12
779Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM21.12
780HypospadiasEnrichmentPIK3CA1.12
781Ddx41-related hematologic malignancy predisposition syndromeEnrichmentDDX411.12
782Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.12
783Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.12
784C1 inhibitor deficiencyEnrichmentSERPING11.12
785ColitisEnrichmentSYK1.12
786Immunodeficiency 112EnrichmentMAP3K141.12
787Systemic lupus erythematosus 18EnrichmentPLD41.12
788Prothrombin deficiencyEnrichmentF21.12
789Rheumatic heart diseaseEnrichmentFCN31.12
7905q14.3 microdeletion syndromeEnrichmentMEF2C1.12
791Kariminejad neurodevelopmental syndromeEnrichmentRBSN1.12
792Immunodeficiency due to ficolin3 deficiencyEnrichmentFCN31.12
793Intellectual developmental disorder, autosomal dominant 75EnrichmentDHX91.12
794Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.12
795Congenital pulmonary airway malformationEnrichmentKRAS1.12
796Choroid plexus cancerEnrichmentTP531.12
797Rare venous malformationEnrichmentPIK3CA1.12
798Immunodeficiency 64EnrichmentRASGRP11.12
799Diaphragmatic eventrationEnrichmentPIK3CA1.12
800Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.12
801Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.12
802Acoustic neuromaEnrichmentNF21.12
803Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP11.12
804Congenital smooth muscle hamartomaEnrichmentACTB1.12
805Waldenstram macroglobulinemiaEnrichmentMYD881.12
806Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.12
807Nocarh syndromeEnrichmentCDC421.12
808Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.12
809Genetic hemolytic uremic syndromeEnrichmentCFH1.12
810Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.12
811Inherited metabolic disorderEnrichmentTKFC1.12
812Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.12
813Menke-hennekam syndromeEnrichmentCREBBP1.12
814Autosomal dominant deafness - onychodystrophy syndromeEnrichmentATP6V1B21.12
815Cryopyrin associated periodic syndromeEnrichmentNLRP31.12
816Pleomorphic xanthoastrocytomaEnrichmentTP531.12
817Rare combined vascular malformationEnrichmentPIK3CA1.12
818Hereditary angioedema with c1inh deficiencyEnrichmentSERPING11.12
819Immunodeficiency due to masp-2 deficiencyEnrichmentMASP21.12
820Cavernous lymphangiomaEnrichmentPIK3CA1.12
821Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.12
822Familial amyloid nephropathy with urticaria and deafnessEnrichmentNLRP31.12
823Hereditary thrombophilia due to congenital protein s deficiencyEnrichmentPROS11.12
824Extrinsic allergic alveolitisEnrichmentMUC5B1.12
825Phakomatosis pigmentokeratoticaEnrichmentHRAS1.12
826Mef2c-related disorderEnrichmentMEF2C1.12
827Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.12
828Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.12
829Eccrine angiomatous hamartomaEnrichmentPIK3CA1.12
830Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.12
831OdontoleukodystrophyEnrichmentPOLR3A1.12
832Macrodactyly of toeEnrichmentPIK3CA1.12
833Nik deficiencyEnrichmentMAP3K141.12
834Periodic fever-infantile enterocolitis-autoinflammatory syndromeEnrichmentNLRC41.12
835Immunodeficiency with factor h anomalyEnrichmentCFH1.12
836Microcystic stromal tumorEnrichmentCTNNB11.12
837Temporomandibular joint anomalyEnrichmentDOCK11.12
838Polyvalvular heart disease syndromeEnrichmentTAB21.12
839Malignant astrocytomaEnrichmentPTPN111.12
840Colorectal cancerEnrichmentADAR, AKT1, CCND1, CTNNB1, DCTN5, EP300, FANCC, FANCE, FBXW7, NRAS, PIK3CA, PIK3R1, PLA2G2A, PTPN12, PTPRJ, SRC, TLR2, TP531.03
841Lung cancerEnrichmentCASP8, KRAS, MAP3K8, PIK3CA, PPP2R1B1.03
842Treacher collins syndrome 1EnrichmentPOLR1C, POLR1D1.02
843Pilomyxoid astrocytomaEnrichmentKRAS, RAF11.02
844Palmoplantar keratoderma, epidermolytic, 1EnrichmentKRT11.00
845ChoreoacanthocytosisEnrichmentTCIRG11.00
846Gm1-gangliosidosis, type iEnrichmentGLB11.00
847Mannosidosis, beta a, lysosomalEnrichmentMANBA1.00
848Mucopolysaccharidosis, type ivbEnrichmentGLB11.00
849Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasiaEnrichmentCYBA1.00
850Gm1-gangliosidosis, type iiEnrichmentGLB11.00
851Methylmalonic aciduria due to methylmalonyl-coa mutase deficiencyEnrichmentMAN2B11.00
852Pelizaeus-merzbacher diseaseEnrichmentRAB9B1.00
853Intellectual developmental disorder, x-linked 109EnrichmentSERPINA11.00
854Barth syndromeEnrichmentDNASE1L11.00
855Spastic paraplegia 2, x-linkedEnrichmentRAB9B1.00
856Alzheimer disease 4EnrichmentPSEN11.00
857Senior-loken syndrome 6EnrichmentCEP2901.00
858Ichthyosis with confettiEnrichmentKRT11.00
859Joubert syndrome 5EnrichmentCEP2901.00
860Epidermolysis bullosa, lethal acantholyticEnrichmentJUP1.00
861Meckel syndrome, type 6EnrichmentCEP2901.00
862Ichthyosis, annular epidermolytic, 1EnrichmentKRT11.00
863Leukodystrophy, hypomyelinating, 2EnrichmentSNAP291.00
864Gm1-gangliosidosis, type iiiEnrichmentGLB11.00
865Ceroid lipofuscinosis, neuronal, 11EnrichmentGRN1.00
866Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.00
867Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2EnrichmentARSA1.00
868Tay-sachs diseaseEnrichmentGM2A1.00
869Osteopetrosis, autosomal recessive 6EnrichmentTCIRG11.00
870Keratosis palmoplantaris striataEnrichmentKRT11.00
871Gm1 gangliosidosisEnrichmentGLB11.00
872Unverricht-lundborg syndromeEnrichmentCSTB1.00
873Hemoglobin e diseaseEnrichmentHBB1.00
874Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentIMPDH21.00
875Cog7-congenital disorder of glycosylationEnrichmentCEP2901.00
876Occipital encephaloceleEnrichmentCEP2901.00
877Autoimmune polyendocrine syndrome type 1EnrichmentCYBA1.00
878Pelizeaus-merzbacher spectrum disorderEnrichmentRAB9B1.00
879Sickle cell-hemoglobin c diseaseEnrichmentHBB1.00
880Hemoglobin d diseaseEnrichmentHBB1.00
881Annular epidermolytic ichthyosisEnrichmentKRT11.00
882Alopecia - intellectual disability syndromeEnrichmentAHSG1.00
883Delta beta-thalassemiaEnrichmentHBB1.00
884Thyroid hemiagenesisEnrichmentPSMD31.00
885Unstable hemoglobin diseaseEnrichmentHBB1.00
886Autosomal dominant epidermolytic ichthyosisEnrichmentKRT11.00
887Hemoglobin e/beta thalassemia diseaseEnrichmentHBB1.00
888Rare genetic intellectual disabilityEnrichmentCREBBP, DDX3X, EP3000.99
889Glioma susceptibility 1EnrichmentH3C1, IDH1, TP530.98
890Isolated split hand-split foot malformationEnrichmentBTRC, FBXW4, SEM10.98
891Spastic ataxiaEnrichmentARSA, CEP290, GLB1, ITPR1, PLA2G6, POLR3A, SPTAN10.97
892Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A20.96
893Erythrocytosis, familial, 1EnrichmentJAK2, SH2B30.96
894Autoimmune lymphoproliferative syndromeEnrichmentCASP10, FASLG0.96
895Budd-chiari syndromeEnrichmentCALR, JAK20.96
896Paget disease of bone 2, early-onsetEnrichmentSQSTM1, TNFRSF11A0.96
897Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK10.96
898Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R20.96
899Mhc class i deficiency 1EnrichmentTAP1, TAP20.96
900Myopathy, autophagic vacuolar, infantile-onsetEnrichmentHNRNPA2B1, STIM10.96
901Mhc class i deficiencyEnrichmentTAP1, TAP20.96
902Cerebrovascular diseaseEnrichmentPIK3CA, RNF2130.96
903Corneal dystrophyEnrichmentCOL17A1, ZEB10.96
904Hydrocephalus, congenital, 2, with or without brain or eye anomaliesEnrichmentANO6, TRIM710.96
905Autosomal recessive osteopetrosisEnrichmentTCIRG1, TNFSF110.96
906Paget's disease of bone 2EnrichmentSQSTM1, TNFRSF11A0.96
907Cerebral malariaEnrichmentCD36, ICAM10.96
908Inherited epidermodysplasia verruciformisEnrichmentIL7, TMC60.96
909Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A20.96
910Pediatric systemic lupus erythematosusEnrichmentIRAK1, STAT40.96
911Congenital disorder of glycosylation, type inEnrichmentMAGT1, PGM10.94
912Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, DDX3X, FLT3, MYC, NUP214, ZBTB160.93
913GliosarcomaEnrichmentIDH1, NFKBIA, TP530.93
914Lennox-gastaut syndromeEnrichmentDNM1, MAPK100.92
915Genetic steroid-resistant nephrotic syndromeEnrichmentLAMA5, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP930.90
916Heart, malformation ofEnrichmentCDK13, MAPK10.89
917Otitis mediaEnrichmentSLPI0.88
918Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentCYB5R30.88
919Dowling-degos disease 1EnrichmentADAM100.88
920Huntington diseaseEnrichmentSLC2A30.88
921FucosidosisEnrichmentFUCA10.88
922Krabbe diseaseEnrichmentPSAP0.88
923Glycogen storage disease iaEnrichmentGAA0.88
924Warburg micro syndrome 1EnrichmentRAB180.88
925Developmental and epileptic encephalopathy 2EnrichmentSNAP250.88
926Frontotemporal dementia 2EnrichmentGRN0.88
927Meckel syndrome, type 4EnrichmentCEP2900.88
928Sickle cell diseaseEnrichmentHBB0.88
929Bestrophinopathy, autosomal recessiveEnrichmentFTH10.88
930Beta-thalassemia, dominant inclusion body typeEnrichmentHBB0.88
931Peeling skin syndrome 3EnrichmentFLG20.88
932Bardet-biedl syndrome 14EnrichmentCEP2900.88
933Diarrhea 7, protein-losing enteropathy typeEnrichmentDGAT10.88
934Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominantEnrichmentATAD3B0.88
935Erythrocytosis, familial, 6EnrichmentHBB0.88
936Beta-thalassemia intermediaEnrichmentHBB0.88
937EnophthalmosEnrichmentCSNK2B0.88
938SyndactylyEnrichmentCSNK2B0.88
939HemoglobinopathyEnrichmentHBB0.88
940Congenital myopathy 1aEnrichmentCYB5R30.88
941Blood platelet diseaseEnrichmentCD360.88
942Mucopolysaccharidosis ivEnrichmentGALNS0.88
943Epidermolytic hyperkeratosisEnrichmentKRT10.88
944Hemoglobin c diseaseEnrichmentHBB0.88
945Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN10.88
946Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeEnrichmentHBB0.88
947Methemoglobinemia, beta-globin typeEnrichmentHBB0.88
948Leukemia, acute myeloidEnrichmentDDX41, FLT3, IDH1, JAK2, KRAS, NPM1, NRAS, NUP214, TP530.87
949Giant cell glioblastomaEnrichmentIDH1, NFKBIA, TP530.87
950Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentMME, VCP0.86
951Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN0.85
952Ehlers-danlos syndromeEnrichmentC1R, COL1A1, COL1A2, COL3A1, SMAD30.84
953Breast cancerEnrichmentAKT1, CASP8, DCTN5, FANCC, FANCM, IL2, IL7R, JUN, KLC1, KRAS, MRE11, PIK3CA, PTEN, SHC1, TP530.84
954Spinocerebellar ataxia 29EnrichmentITPR10.83
955Familial mediterranean fever, autosomal dominantEnrichmentMEFV0.83
956Cylindromatosis, familialEnrichmentCYLD0.83
957Fibromatosis, gingival, 1EnrichmentSOS10.83
958Gordon holmes syndromeEnrichmentRNF2160.83
959Scoliosis, isolated 1EnrichmentMAPK70.83
960Adrenocortical carcinoma, hereditaryEnrichmentTP530.83
961Costello syndromeEnrichmentHRAS0.83
962Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF10.83
963Hemangiopericytoma, malignantEnrichmentSTAT60.83
964Thumb deformityEnrichmentCREBBP0.83
965Renal tubular acidosis, distal, 2, with progressive sensorineural hearing lossEnrichmentATP6V1B10.83
966Treacher collins syndrome 3EnrichmentPOLR1C0.83
967Muscular dystrophy, limb-girdle, autosomal recessive 8EnrichmentTRIM320.83
968Trichoepithelioma, multiple familial, 1EnrichmentCYLD0.83
969Osteopathia striata with cranial sclerosisEnrichmentCTNNB10.83
970Cataract 35EnrichmentMYH90.83
971Cervical cancerEnrichmentTP530.83
972Panbronchiolitis, diffuseEnrichmentMUC5B0.83
9733mc syndrome 2EnrichmentCOLEC110.83
974Pulmonic stenosisEnrichmentSOS10.83
975Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK0.83
976Leukodystrophy, hypomyelinating, 4EnrichmentPOLR3A0.83
977Histiocytoma, angiomatoid fibrousEnrichmentCREB10.83
978Waardenburg syndrome, type 4cEnrichmentPOLR2F0.83
979Schwannomatosis 1EnrichmentNF20.83
980Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA0.83
981Griscelli syndrome, type 3EnrichmentMYO5A0.83
982Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD30.83
983Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM10.83
984Deafness, autosomal dominant 20EnrichmentACTG10.83
985Keratosis, seborrheicEnrichmentPIK3CA0.83
986Complement component c1s deficiencyEnrichmentC1S0.83
987Granulomatous disease, chronic, autosomal recessive, 3EnrichmentNCF40.83
988Encephalocraniocutaneous lipomatosisEnrichmentKRAS0.83
989Baraitser-winter syndrome 2EnrichmentACTG10.83
990Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR3B0.83
991Bleeding disorder, platelet-type, 19EnrichmentPRKACG0.83
992LathosterolosisEnrichmentC50.83
993Noonan syndrome 8EnrichmentPIK3CA0.83
994Yao syndromeEnrichmentNOD20.83
995Lymphoma, hodgkin, classicEnrichmentTP530.83
996Immunodeficiency, common variable, 10EnrichmentNFKB20.83
997Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP30.83
998AspergillosisEnrichmentCLEC7A0.83
999Bardet-biedl syndrome 11EnrichmentTRIM320.83
1000Long qt syndrome 14EnrichmentCALM10.83
1001Familial mediterranean feverEnrichmentMEFV0.83
1002Houge-janssens syndrome 1EnrichmentPPP2R5D0.83
1003Diamond-blackfan anemia 12EnrichmentNKIRAS10.83
1004Leukoencephalopathy, progressive, with ovarian failureEnrichmentPOLR1C0.83
1005Oocyte/zygote/embryo maturation arrest 7EnrichmentPANX10.83
1006Hypobetalipoproteinemia, familial, 1EnrichmentAPOB0.83
1007Charcot-marie-tooth disease, demyelinating, type 1iEnrichmentPOLR3B0.83
1008Short stature, oligodontia, dysmorphic facies, and motor delayEnrichmentPOLR3GL0.83
1009Wrinkly skin syndromeEnrichmentATP6V0A20.83
1010Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC40.83
1011Agammaglobulinemia, x-linkedEnrichmentBTK0.83
1012Developmental and epileptic encephalopathy 93EnrichmentATP6V1A0.83
1013Developmental and epileptic encephalopathy 60EnrichmentCNPY30.83
1014Congenital heart defects and skeletal malformations syndromeEnrichmentABL10.83
1015Birk-aharoni syndromeEnrichmentPSMC10.83
1016Werner syndromeEnrichmentPTPN110.83
1017Menke-hennekam syndrome 2EnrichmentEP3000.83
1018Frontotemporal dementia and/or amyotrophic lateral sclerosis 8EnrichmentCYLD0.83
1019Brooke-spiegler syndromeEnrichmentCYLD0.83
1020Spinocerebellar ataxia 46EnrichmentPLD30.83
1021Immunodeficiency, common variable, 7EnrichmentCR20.83
1022Childhood hepatocellular carcinomaEnrichmentCTNNB10.83
1023Rela fusion-positive ependymomaEnrichmentRELA0.83
1024Autosomal recessive limb-girdle muscular dystrophy type 2hEnrichmentTRIM320.83
1025Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP0.83
1026Rosette-forming glioneuronal tumorEnrichmentPIK3CA0.83
1027Leukodystrophy, hypomyelinating, 11EnrichmentPOLR1C0.83
1028Renal tubular acidosisEnrichmentATP6V1B10.83
1029Leprosy 1EnrichmentTLR60.83
1030Congenital fibrosarcomaEnrichmentTP530.83
1031Li-fraumeni syndrome 1EnrichmentTP530.83
1032SarcomaEnrichmentTP530.83
1033Congenital dyserythropoietic anemiaEnrichmentIRAK40.83
1034Fibrolamellar carcinomaEnrichmentPRKACA0.83
1035Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F0.83
1036Pericardial effusionEnrichmentNLRP30.83
1037Nephrotic syndrome, type 7EnrichmentCFH0.83
1038Amyotrophic lateral sclerosis 12 with or without frontotemporal dementiaEnrichmentOPTN0.83
1039Congenital heart defects, multiple types, 2EnrichmentTAB20.83
1040Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH20.83
1041HypobetalipoproteinemiaEnrichmentAPOB0.83
1042Immunodeficiency 17EnrichmentCD3G0.83
1043Pseudosarcomatous fibromatosisEnrichmentMYH90.83
1044Cervix carcinomaEnrichmentTP530.83
1045Hodgkin's lymphomaEnrichmentTP530.83
1046Amyotrophic lateral sclerosis type 12EnrichmentOPTN0.83
1047Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG0.83
1048Immunodeficiency 57 with autoinflammationEnrichmentRIPK10.83
1049Immunodeficiency 52EnrichmentLAT0.83
1050Houge-janssens syndrome 3EnrichmentPPP2CA0.83
1051Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB10.83
1052HyperostosisEnrichmentPOLR3GL0.83
1053Intermittent hydrarthrosisEnrichmentMEFV0.83
1054Basal ganglia diseaseEnrichmentIFIH10.83
1055Crohn's diseaseEnrichmentNOD20.83
1056Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC20.83
1057Charcot-marie-tooth disease type 4fEnrichmentPLD30.83
1058ArthritisEnrichmentSYK0.83
1059AngioedemaEnrichmentSERPING10.83
1060Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB20.83
1061Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH20.83
1062TeratomaEnrichmentCTNNB10.83
1063Pleomorphic rhabdomyosarcomaEnrichmentTP530.83
1064Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G60.83
1065Oculootodental syndromeEnrichmentFADD0.83
1066Submucosal cleft palateEnrichmentUBB0.83
1067Cleft hard palateEnrichmentUBB0.83
1068Wooly hair nevusEnrichmentHRAS0.83
1069Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB0.83
1070Coronary heart disease 5EnrichmentAPOB, IKBKG0.83
1071Amyloidosis, primary localized cutaneous, 1EnrichmentOSMR0.82
1072Stickler syndrome, type iEnrichmentCOL2A10.82
1073Blood group system, landsteiner-wienerEnrichmentICAM40.82
1074Cole-carpenter syndrome 1EnrichmentP4HB0.82
1075Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB10.82
1076Glomuvenous malformationsEnrichmentGLMN0.82
1077Boomerang dysplasiaEnrichmentFLNB0.82
1078Proteus syndromeEnrichmentAKT10.82
1079Immune deficiency, familial variableEnrichmentTNFRSF13B0.82
1080Perry syndromeEnrichmentDCTN10.82
1081Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual developmentEnrichmentKIF110.82
1082Paget disease of bone 3EnrichmentSQSTM10.82
1083Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A10.82
1084Parkinson disease 1, autosomal dominantEnrichmentSNCA0.82
1085Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT20.82
1086Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A20.82
1087Anencephaly 1EnrichmentTRIM360.82
1088Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A10.82
1089Keratitis-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentAP1B10.82
1090C syndromeEnrichmentCD960.82
1091Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A30.82
1092Vacterl association with hydrocephalusEnrichmentPTEN0.82
1093Helicobacter pylori infectionEnrichmentIFNGR10.82
1094Intellectual developmental disorder, x-linked 21EnrichmentIL1RAPL10.82
1095Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB30.82
1096Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA0.82
1097Intellectual developmental disorder, x-linked 100EnrichmentKIF4A0.82
1098Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S10.82
1099Type 1 diabetes mellitus 10EnrichmentIL2RA0.82
1100Tonne-kalscheuer syndromeEnrichmentRLIM0.82
1101Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A0.82
1102Immunodeficiency 50EnrichmentMSN0.82
1103Taurodontism, microdontia, and dens invaginatusEnrichmentKIF4A0.82
1104Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A10.82
1105Spinocerebellar ataxia 5EnrichmentSPTBN20.82
1106Immunodeficiency 35EnrichmentTYK20.82
1107Otopalatodigital syndrome, type iEnrichmentFLNA0.82
1108Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA0.82
1109Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A10.82
1110Immunodeficiency 61EnrichmentSH3KBP10.82
1111Glaucoma 1, open angle, fEnrichmentASB100.82
1112Prostate cancer, hereditary, 1EnrichmentRNASEL0.82
1113Czech dysplasiaEnrichmentCOL2A10.82
1114Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A0.82
1115Leprosy 4EnrichmentLTA0.82
1116Birbeck granule deficiencyEnrichmentCD2070.82
1117Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF40.82
1118Deafness, autosomal recessive 39EnrichmentHGF0.82
1119Muscular dystrophy, limb-girdle, autosomal dominant 3EnrichmentHNRNPDL0.82
1120Orofacial cleft 6EnrichmentIRF60.82
1121Nemaline myopathy 6EnrichmentKBTBD130.82
1122Celiac disease 3EnrichmentCTLA40.82
1123Psoriasis 12EnrichmentRNF1140.82
1124Craniolenticulosutural dysplasiaEnrichmentSEC23A0.82
1125Immunodeficiency 30EnrichmentIL12RB10.82
1126Kniest dysplasiaEnrichmentCOL2A10.82
1127Dermatitis, atopic, 4EnrichmentSOCS30.82
1128Microvascular complications of diabetes 6EnrichmentSOD20.82
1129Popliteal pterygium syndromeEnrichmentIRF60.82
1130Skeletal defects, genital hypoplasia, and impaired intellectual developmentEnrichmentZBTB160.82
1131Immunodeficiency 16EnrichmentTNFRSF40.82
1132Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A10.82
1133Chilblain lupus 2EnrichmentSAMHD10.82
1134Atelosteogenesis, type iiiEnrichmentFLNB0.82
1135Polyglucosan body myopathy 1 with or without immunodeficiencyEnrichmentRBCK10.82
1136Atelosteogenesis, type iEnrichmentFLNB0.82
1137Parkinson disease 18, autosomal dominantEnrichmentEIF4G10.82
1138Charcot-marie-tooth disease, axonal, type 2pEnrichmentLRSAM10.82
1139Charcot-marie-tooth disease, axonal, type 2rEnrichmentTRIM20.82
1140Johanson-blizzard syndromeEnrichmentUBR10.82
1141Pseudohypoaldosteronism, type iieEnrichmentCUL30.82
1142Multiple fibroadenomas of the breastEnrichmentPRLR0.82
1143Spastic paraplegia and psychomotor retardation with or without seizuresEnrichmentHACE10.82
1144Parkinson disease 4, autosomal dominantEnrichmentSNCA0.82
1145Noonan syndrome 9EnrichmentSOS20.82
1146Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A10.82
1147Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB10.82
1148Leprosy 2EnrichmentPRKN0.82
1149Even-plus syndromeEnrichmentHSPA90.82
1150Immunodeficiency 116EnrichmentCD8A0.82
1151Aortic aneurysm, familial thoracic 8EnrichmentPRKG10.82
1152Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunityEnrichmentRAG10.82
1153Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosisEnrichmentIL1RN0.82
1154Candidiasis, familial, 6EnrichmentIL17F0.82
1155Ataxia-oculomotor apraxia 3EnrichmentPIK3R50.82
1156Kaufman oculocerebrofacial syndromeEnrichmentUBE3B0.82
1157Cole-carpenter syndrome 2EnrichmentSEC24D0.82
1158Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A0.82
1159Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A0.82
1160Anemia, sideroblastic, 4EnrichmentHSPA90.82
1161Immunodeficiency 32aEnrichmentIRF80.82
1162Pseudohypoaldosteronism, type iidEnrichmentKLHL30.82
1163Fanconi anemia, complementation group gEnrichmentFANCG0.82
1164Acrogeria, gottron typeEnrichmentCOL3A10.82
1165Achondrogenesis, type iiEnrichmentCOL2A10.82
1166Craniosynostosis and dental anomaliesEnrichmentIL11RA0.82
1167Immunodeficiency 27aEnrichmentIFNGR10.82
1168Fetal akinesia deformation sequence 4EnrichmentNUP880.82
1169Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA0.82
1170Ceroid lipofuscinosis, neuronal, 13EnrichmentCTSF0.82
1171Spastic cerebral palsyEnrichmentFBXO310.82
1172Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC10.82
1173Halperin-birk syndromeEnrichmentSEC31A0.82
1174Diarrhea 12, with microvillus atrophyEnrichmentSTX30.82
1175Immunodeficiency 69EnrichmentIFNG0.82
1176Atrial fibrillation, familial, 15EnrichmentNUP1550.82
1177Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM10.82
1178Pseudo-torch syndrome 3EnrichmentSTAT20.82
1179Stuve-wiedemann syndrome 2EnrichmentIL6ST0.82
1180Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST0.82
1181Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B0.82
1182Immunodeficiency 106 viral infectionsEnrichmentIFNAR10.82
1183Clark-baraitser syndromeEnrichmentTRIP120.82
1184Mehmo syndromeEnrichmentEIF2S30.82
1185Nephrotic syndrome, type 26EnrichmentLAMA50.82
1186Fanconi anemia, complementation group bEnrichmentFANCB0.82
1187Cardiomyopathy, familial restrictive, 6EnrichmentKIF20A0.82
1188Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM10.82
1189Oocyte/zygote/embryo maturation arrest 17EnrichmentKPNA70.82
1190Spermatogenic failure 28EnrichmentFANCM0.82
1191Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP540.82
1192Immunodeficiency 92EnrichmentREL0.82
1193Nephrotic syndrome, type 19EnrichmentNUP1600.82
1194Lymphoproliferative syndrome 3EnrichmentCD700.82
1195Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG0.82
1196Lymphoproliferative syndrome, x-linked, 1EnrichmentSH2D1A0.82
1197Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL70.82
1198Immunodeficiency 131EnrichmentIRF40.82
1199Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A0.82
1200Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB0.82
1201Terminal osseous dysplasiaEnrichmentFLNA0.82
1202Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC200.82
1203Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B0.82
1204Ciliary dyskinesia, primary, 51EnrichmentBRWD10.82
1205Disabling pansclerotic morphea of childhoodEnrichmentSTAT40.82
1206Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK20.82
1207Immunodeficiency 48EnrichmentZAP700.82
1208Premature ovarian failure 15EnrichmentFANCM0.82
1209Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticityEnrichmentPTPN230.82
1210Autoimmune disease, multisystem, infantile-onset, 4EnrichmentPDCD10.82
1211Intellectual developmental disorder with polymicrogyria and seizuresEnrichmentTCP10.82
1212Mhc class i deficiency 3EnrichmentTAPBP0.82
1213Houge-janssens syndrome 4EnrichmentPPP2R5C0.82
1214Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A20.82
1215Orofacial cleft 10EnrichmentSUMO10.82
1216Frontotemporal dementia and/or amyotrophic lateral sclerosis 5EnrichmentCCNF0.82
1217Intellectual developmental disorder, x-linked, syndromic, nascimento typeEnrichmentUBE2A0.82
1218Fg syndrome 2EnrichmentFLNA0.82
1219Charcot-marie-tooth disease type 2rEnrichmentTRIM20.82
1220Graft-versus-host diseaseEnrichmentIL100.82
1221Spondyloperipheral dysplasiaEnrichmentCOL2A10.82
1222Thrombocytopenia 3EnrichmentFYB10.82
1223Galloway-mowat syndrome 8EnrichmentNUP1330.82
1224Laron syndromeEnrichmentGHR0.82
1225Brunner syndromeEnrichmentMAOA0.82
1226Immunodeficiency 119EnrichmentICOSLG0.82
1227Deafness, dystonia, and cerebral hypomyelinationEnrichmentBCAP310.82
1228Autism 19EnrichmentEIF4E0.82
1229Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C0.82
1230Cardiomyopathy, familial hypertrophic, 31EnrichmentTRIM630.82
1231Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN20.82
1232T-cell large granular lymphocyte leukemiaEnrichmentSTAT30.82
1233Tooth agenesis, selective, x-linked, 1EnrichmentEDA0.82
1234HyperprolactinemiaEnrichmentPRLR0.82
1235Type 1 diabetes mellitus 12EnrichmentCTLA40.82
1236Focal segmental glomerulosclerosis and neurodevelopmental syndromeEnrichmentTRIM80.82
1237Adult onset demyelinating leukodystrophyEnrichmentLMNB10.82
1238Aicardi-goutieres syndrome 5EnrichmentSAMHD10.82
1239Immunodeficiency 18EnrichmentCD3E0.82
1240Systemic lupus erythematosus 11EnrichmentSTAT40.82
1241Nephrotic syndrome, type 13EnrichmentNUP2050.82
1242Syndromic x-linked intellectual disability nascimento typeEnrichmentUBE2A0.82
1243Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathyEnrichmentRNF2200.82
1244Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC70.82
1245Tubulointerstitial kidney disease, autosomal dominant 5EnrichmentSEC61A10.82
1246Growth hormone insensitivity, partialEnrichmentGHR0.82
1247Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R10.82
1248Myoclonus, intractable, neonatalEnrichmentKIF5A0.82
1249Papillary tumor of the pineal regionEnrichmentPTEN0.82
1250Developmental and epileptic encephalopathy 109EnrichmentFZR10.82
1251Cortical dysplasia, complex, with other brain malformations 11EnrichmentKIF26A0.82
1252Allergic rhinitisEnrichmentIL130.82
1253Immunodeficiency 10EnrichmentSTIM10.82
1254Immunoglobulin a deficiency 2EnrichmentTNFRSF13B0.82
1255Usmani-riazuddin syndrome, autosomal recessiveEnrichmentAP1G10.82
1256Immunodeficiency 42EnrichmentRORC0.82
1257Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB10.82
1258Microvascular complications of diabetes 1EnrichmentVEGFA0.82
1259Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT30.82
1260Immunodeficiency 27bEnrichmentIFNGR10.82
1261Intellectual developmental disorder, autosomal recessive 45EnrichmentFBXO310.82
1262Psoriasis 7EnrichmentIL23R0.82
1263Systemic lupus erythematosus 2EnrichmentPDCD10.82
1264Spondyloepimetaphyseal dysplasia with joint laxity, type 2EnrichmentKIF220.82
1265Microvascular complications of diabetes 4EnrichmentIL1RN0.82
1266Familial hemophagocytic lymphohistiocytosis 5EnrichmentSTXBP20.82
1267Hair morphology 1EnrichmentEDAR0.82
1268Amyotrophic lateral sclerosis 25EnrichmentKIF5A0.82
1269Otopalatodigital syndrome spectrum disorderEnrichmentFLNA0.82
1270Immunodeficiency with hyper-igm, type 3EnrichmentCD400.82
1271Intellectual developmental disorder with short stature, facial anomalies, and speech defectsEnrichmentFBXL30.82
1272Microcephaly 24, primary, autosomal recessiveEnrichmentNUP370.82
1273Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion diseaseEnrichmentSTXBP20.82
1274Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN10.82
1275Birdshot chorioretinopathyEnrichmentHLA-A0.82
1276Galloway-mowat syndrome 7EnrichmentNUP1070.82
1277Rothmund-thomson syndrome, type 1EnrichmentANAPC10.82
1278Neuroendocrine tumorEnrichmentCDKN1B0.82
1279Malaria, mildEnrichmentNCR30.82
1280Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A10.82
1281Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B0.82
1282Coronary heart disease 6EnrichmentMMP30.82
1283Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R0.82
1284Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB0.82
1285Intellectual developmental disorder, autosomal recessive 38EnrichmentHERC20.82
1286Immunodeficiency 31aEnrichmentSTAT10.82
1287Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R0.82
1288Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A20.82
1289Psoriasis 15, pustularEnrichmentAP1S30.82
1290Immunodeficiency 29EnrichmentIL12B0.82
1291Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP20.82
1292Deafness, autosomal recessive 123EnrichmentSTX40.82
1293Cowden syndrome 6EnrichmentAKT10.82
1294Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA0.82
1295Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2EnrichmentHNRNPA2B10.82
1296Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB90.82
1297Nephrotic syndrome, type 12EnrichmentNUP930.82
1298Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R0.82
1299Retinitis pigmentosa 89EnrichmentKIF3B0.82
1300Mitochondrial dna depletion syndrome 13EnrichmentFBXL40.82
1301Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A0.82
1302Nemaline myopathy 9EnrichmentKLHL410.82
1303Microcephaly 26, primary, autosomal dominantEnrichmentLMNB10.82
1304Recombinase activating gene 1 deficiencyEnrichmentRAG10.82
1305Influenza, severeEnrichmentIFITM30.82
1306Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A0.82
1307Immunodeficiency 78 with autoimmunity and developmental delayEnrichmentTPP20.82
1308Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD0.82
1309Candidiasis, familial, 9EnrichmentIL17RC0.82
1310Achromatopsia 7EnrichmentATF60.82
1311Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominantEnrichmentEDARADD0.82
1312Colorectal cancer 3EnrichmentSMAD70.82
1313Inflammatory bowel disease 17EnrichmentIL23R0.82
1314Acute myeloid leukemia with minimal differentiationEnrichmentFLT30.82
1315Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG0.82
1316Immunodeficiency 31bEnrichmentSTAT10.82
1317Type 1 diabetes mellitus 22EnrichmentCCR50.82
1318Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD280.82
1319Seckel syndrome 9EnrichmentTRAIP0.82
1320Choanal atresia and lymphedemaEnrichmentPTPN140.82
1321Glioma susceptibility 2EnrichmentPTEN0.82
1322Factor xiii, a subunit, deficiency ofEnrichmentF13A10.82
1323Nephrotic syndrome, type 11EnrichmentNUP1070.82
1324Amyloidosis, primary localized cutaneous, 2EnrichmentIL31RA0.82
1325Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA40.82
1326Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP700.82
1327Fanconi anemia, complementation group lEnrichmentFANCL0.82
1328Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaEnrichmentOAS10.82
1329Ovarian small cell carcinomaEnrichmentSMARCA40.82
1330Cardiac, facial, and digital anomalies with developmental delayEnrichmentTRAF70.82
1331Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT30.82
1332PsoriasisEnrichmentIL17RA0.82
1333Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE0.82
1334Neurodevelopmental disorder with or without autism or seizuresEnrichmentCUL30.82
1335T-cell lymphoma, subcutaneous panniculitis-likeEnrichmentHAVCR20.82
1336Irf6-related disordersEnrichmentIRF60.82
1337Encephalopathy, acute, infection-induced 9EnrichmentNUP2140.82
1338Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST0.82
1339Hepatitis, fulminant viralEnrichmentIL18BP0.82
1340Usmani-riazuddin syndrome, autosomal dominantEnrichmentAP1G10.82
1341Autosomal dominant popliteal pterygium syndromeEnrichmentIRF60.82
1342X-linked ehlers-danlos syndromeEnrichmentFLNA0.82
1343Hydrocephalus, congenital, 4EnrichmentTRIM710.82
1344Sandestig-stefanova syndromeEnrichmentNUP1880.82
1345Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST0.82
1346Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB60.82
1347Congenital autosomal recessive small-platelet thrombocytopeniaEnrichmentFYB10.82
1348Ovarian dysgenesis 6EnrichmentNUP1070.82
1349Neurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesEnrichmentUBE3C0.82
1350Inflammatory bowel disease 31, autosomal recessiveEnrichmentIL370.82
1351BerylliosisEnrichmentHLA-DPB10.82
1352Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR0.82
1353Dystonia 33EnrichmentEIF2AK20.82
1354Nephrotic syndrome, type 18EnrichmentNUP1330.82
1355Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R0.82
1356Periventricular nodular heterotopia 7EnrichmentNEDD4L0.82
1357Tayoun-maawali syndromeEnrichmentFBXO220.82
1358Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I20.82
1359Immunodeficiency 65 viral infectionsEnrichmentIRF90.82
1360Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A0.82
1361Retinal dystrophy and microvillus inclusion diseaseEnrichmentSTX30.82
1362Bent bone dysplasia syndrome 2EnrichmentLAMA50.82
1363Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A10.82
1364Asphyxia neonatorumEnrichmentCOL1A10.82
1365Megalencephaly-severe kyphoscoliosis-overgrowth syndromeEnrichmentHERC10.82
1366Neutropenia, severe congenital, 11, autosomal dominantEnrichmentSEC61A10.82
1367Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G0.82
1368Immunodeficiency 19, severe combinedEnrichmentCD3D0.82
1369Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA80.82
1370Braddock-carey syndrome 2EnrichmentKIF150.82
1371Familial glomangiomaEnrichmentGLMN0.82
1372Spastic paraplegia-severe developmental delay-epilepsy syndromeEnrichmentHACE10.82
1373T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK30.82
1374Spastic paraplegia 88, autosomal dominantEnrichmentKPNA30.82
1375Developmental delay, hypotonia, and impaired languageEnrichmentFBXW70.82
1376Klhl9-related early-onset distal myopathyEnrichmentKLHL90.82
1377Recombinase activating gene 2 deficiencyEnrichmentRAG20.82
1378Late-onset junctional epidermolysis bullosaEnrichmentCOL17A10.82
1379Lissencephaly due to tuba1a mutationEnrichmentTUBA1A0.82
1380Csf1r-related disorderEnrichmentCSF1R0.82
1381Immunodeficiency 125EnrichmentFLT3LG0.82
1382Immunodeficiency 109 with lymphoproliferationEnrichmentTNFRSF90.82
1383Congenital myopathy 26EnrichmentTUBA4A0.82
1384Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A0.82
1385Oculopharyngeal muscular dystrophy 2EnrichmentHNRNPA2B10.82
1386Progressive myoclonus epilepsy 3EnrichmentKCTD70.82
1387Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A0.82
1388Capillary hemangiomaEnrichmentAKT30.82
1389Fanconi anemia, complementation group xEnrichmentFAAP1000.82
1390Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyEnrichmentKLC40.82
1391Familial hyperprolactinemiaEnrichmentPRLR0.82
1392Autoimmune disease, multisystem, infantile-onset, 5EnrichmentCD2740.82
1393Flnb-related disordersEnrichmentFLNB0.82
1394Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT30.82
139521q22.11q22.12 microdeletion syndromeEnrichmentKIF150.82
1396Congenital dyserythropoietic anemia type iiibEnrichmentRACGAP10.82
1397Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM10.82
1398Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A10.82
1399Cerebral cavernous malformations 5EnrichmentMAP3K30.82
1400Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA80.82
1401Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM10.82
1402Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A10.82
1403Traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndromeEnrichmentTRAF70.82
1404Cd40 ligand deficiencyEnrichmentCD40LG0.82
1405HypochondrogenesisEnrichmentCOL2A10.82
1406Chronic neutrophilic leukemiaEnrichmentCSF3R0.82
1407Agammaglobulinemia 3EnrichmentCD79A0.82
1408Common variable immunodeficiency phenotype due to homozygous taci deficiencyEnrichmentTNFRSF13B0.82
1409Giant axonal neuropathyEnrichmentGAN0.82
1410Immunodeficiency 19EnrichmentCD3D0.82
141115q11q13 microduplication syndromeEnrichmentUBE3A0.82
1412Growth retardation-mild developmental delay-chronic hepatitis syndromeEnrichmentSH2B30.82
1413DysspondyloenchondromatosisEnrichmentCOL2A10.82
1414Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R0.82
1415Inflammatory bowel diseaseEnrichmentIL370.82
1416Abdominal aortic aneurysmEnrichmentCOL3A10.82
1417Anemia, congenital dyserythropoietic, type iiib, autosomal recessiveEnrichmentRACGAP10.82
1418Whipple diseaseEnrichmentIRF40.82
1419Familial acute necrotizing encephalopathyEnrichmentRANBP20.82
1420X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA0.82
1421Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaEnrichmentOAS10.82
1422T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R0.82
1423Lymphedema-posterior choanal atresia syndromeEnrichmentPTPN140.82
1424Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR20.82
1425Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN0.82
1426Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A0.82
1427Premature agingEnrichmentVIM0.82
1428Combined immunodeficiency due to partial rag1 deficiencyEnrichmentRAG10.82
1429Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB100.82
1430Type 2 collagen-related bone disorderEnrichmentCOL2A10.82
1431Late-onset combined immunodeficiency due to icosl deficiencyEnrichmentICOSLG0.82
1432Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF120.82
1433Adar-related hereditary spastic paraplegiaEnrichmentADAR0.82
1434Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiencyEnrichmentSH2B10.82
1435Verrucous hemangiomaEnrichmentMAP3K30.82
1436Lama5-related multisystemic syndromeEnrichmentLAMA50.82
1437Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT30.82
1438Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK10.82
1439Trim22-related inflammatory bowel diseaseEnrichmentTRIM220.82
1440Zap70-related severe combined immunodeficiencyEnrichmentZAP700.82
1441Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromeEnrichmentKPNA70.82
1442Akt2-related familial partial lipodystrophyEnrichmentAKT20.82
1443Retinal hemangioblastomaEnrichmentVHL0.82
1444Patent foramen ovaleEnrichmentPSMC3, PTPN11, TAB20.81
1445Enchondromatosis, multiple, ollier typeEnrichmentIDH10.79
1446Epidermolytic hyperkeratosis 1EnrichmentKRT10.79
1447Macular dystrophy, vitelliform, 2EnrichmentFTH10.79
1448Dementia, lewy bodyEnrichmentVCP0.79
1449Paroxysmal extreme pain disorderEnrichmentIDH10.79
1450Niemann-pick disease, type c1EnrichmentNPC20.79
1451Mucopolysaccharidosis, type ivaEnrichmentGALNS0.79
1452Epidermodysplasia verruciformis 1EnrichmentTMC60.79
1453Mannosidosis, alpha b, lysosomalEnrichmentMAN2B10.79
1454Fabry diseaseEnrichmentGLA0.79
1455Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentMVP0.79
1456Rheumatoid arthritis, systemic juvenileEnrichmentMIF0.79
1457Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentUNC13D0.79
1458Leber congenital amaurosis 10EnrichmentCEP2900.79
1459Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.79
1460Congenital diarrhea 7 with exudative enteropathyEnrichmentDGAT10.79
1461ThalassemiaEnrichmentHBB0.79
1462OsteopetrosisEnrichmentTCIRG10.79
1463Niemann-pick diseaseEnrichmentNPC20.79
1464Night blindnessEnrichmentCEP2900.79
1465Spinal muscular atrophyEnrichmentDYNC1H10.79
1466DementiaEnrichmentPSEN10.79
1467Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentHBB0.79
1468Congenital nervous system abnormalityEnrichmentARSA, ASAH1, CEP290, DYNC1H1, FUCA1, PSEN10.79
1469Nervous system diseaseEnrichmentARSA, ASAH1, CEP290, DYNC1H1, FUCA1, PSEN10.79
1470Von hippel-lindau syndromeEnrichmentCCND1, VHL0.78
1471Crisponi/cold-induced sweating syndrome 1EnrichmentCLCF1, CRLF10.78
1472Rhabdomyosarcoma 2EnrichmentFOXO1, TP530.78
1473Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB10.78
1474Acute myeloid leukemia with maturationEnrichmentFLT3, NPM10.78
1475Myeloproliferative neoplasmEnrichmentCBL, JAK20.78
1476HemangiomaEnrichmentPTEN, RNF2130.78
1477Histiocytoid hemangiomaEnrichmentFOS, VIM0.78
1478Acute megakaryocytic leukemiaEnrichmentPTEN, TP530.78
1479Female infertility due to oocyte meiotic arrestEnrichmentPANX1, TUBB80.78
1480Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RA, CSF2RB0.78
1481Benign epilepsy with centrotemporal spikesEnrichmentASAH1, CSTB, SPTAN10.77
1482Leukemia, chronic lymphocyticEnrichmentP2RX7, TP530.76
1483Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentTBK1, VCP0.76
1484Stroke, ischemicEnrichmentF2, NOS30.76
1485Familial colorectal cancerEnrichmentPLA2G2A, TP530.76
1486Centralopathic epilepsyEnrichmentASAH1, CSTB, SPTAN10.73
1487MyopathyEnrichmentDNM2, DYNC1H1, GAA, MYH2, TRIM320.73
1488Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentGLB10.72
1489Developmental dysplasia of the hip 1EnrichmentPSMC30.72
1490Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN10.72
1491Desbuquois dysplasia 1EnrichmentCANT10.72
1492Ritscher-schinzel syndrome 1EnrichmentVPS35L0.72
1493Moyamoya disease 1EnrichmentDIAPH10.72
1494Testicular germ cell tumorEnrichmentSTK100.72
1495Pendred syndromeEnrichmentDIAPH10.72
1496Renal dysplasia, cysticEnrichmentCEP2900.72
1497Methemoglobinemia, beta typeEnrichmentHBB0.72
1498DiarrheaEnrichmentDGAT10.72
1499Hereditary spherocytosisEnrichmentGPI0.72
1500Autosomal dominant secondary polycythemiaEnrichmentHBB0.72
1501Parkinson disease, late-onsetEnrichmentDNAJC13, PSAP0.70
1502Charcot-marie-tooth diseaseEnrichmentDHX9, DNM2, DYNC1H1, PLD3, TTR0.70
1503Myelodysplastic syndromeEnrichmentDDX41, TP530.69
1504RhabdomyosarcomaEnrichmentCBL, HRAS, PTEN, TP530.68
1505Myeloma, multipleEnrichmentCCND1, CREBBP, CYLD, FLT3, H3C1, IL7R, KRAS, PIK3R2, SAMHD1, SH2B3, TP530.68
1506Desmoid disease, hereditaryEnrichmentCTNNB10.67
1507Zimmermann-laband syndrome 1EnrichmentATP6V1B20.67
1508Hypercholesterolemia, familial, 2EnrichmentAPOB0.67
1509Pelvic organ prolapseEnrichmentTAB20.67
1510Angioedema, hereditary, 1EnrichmentSERPING10.67
1511Waardenburg syndrome, type 2aEnrichmentPOLR2F0.67
1512Cutis laxa, autosomal recessive, type iiaEnrichmentATP6V0A20.67
1513Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsEnrichmentTREX10.67
1514Immune thrombocytopeniaEnrichmentSOCS10.67
1515Gillespie syndromeEnrichmentITPR10.67
1516Sengers syndromeEnrichmentTKFC0.67
1517Uvula, bifidEnrichmentUBB0.67
1518Wiedemann-rautenstrauch syndromeEnrichmentPOLR3A0.67
1519Neurodegeneration with brain iron accumulation 5EnrichmentOTUD50.67
1520Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK0.67
1521Nuchal bleb, familialEnrichmentSOS10.67
1522Chilblain lupus 1EnrichmentTREX10.67
1523Myopathy, centronuclear, x-linkedEnrichmentDNM20.67
1524Systemic lupus erythematosus 9EnrichmentCR20.67
1525Osteogenic sarcomaEnrichmentTP530.67
1526Cleft soft palateEnrichmentUBB0.67
1527Encephalopathy, acute, infection-induced 1EnrichmentUNC93B10.67
1528Glaucoma, normal tensionEnrichmentOPTN0.67
1529Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB10.67
1530Folate malabsorption, hereditaryEnrichmentSARM10.67
1531Infantile cerebellar-retinal degenerationEnrichmentPOLR3H0.67
15323mc syndrome 3EnrichmentCOLEC100.67
1533Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentRNF1350.67
1534Optic atrophy 9EnrichmentPOLR3H0.67
1535Anus, imperforateEnrichmentCTNNB10.67
1536Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS10.67
1537Viss syndromeEnrichmentPOLR3B0.67
1538Exudative vitreoretinopathy 7EnrichmentCTNNB10.67
1539Developmental and epileptic encephalopathy 31bEnrichmentDNM10.67
1540Developmental and epileptic encephalopathy 65EnrichmentCYFIP20.67
1541Agammaglobulinemia 1EnrichmentBTK0.67
1542Tethered spinal cord syndromeEnrichmentCREBBP0.67
1543Nail disorder, nonsyndromic congenital, 9EnrichmentCTSK0.67
1544Desmoid tumorEnrichmentCTNNB10.67
1545Chilblain lupusEnrichmentTREX10.67
1546Atypical teratoid rhabdoid tumorEnrichmentTP530.67
1547Anaplastic astrocytomaEnrichmentTP530.67
1548Squamous cell carcinomaEnrichmentTP530.67
1549Cellular ependymomaEnrichmentNF20.67
1550Tanycytic ependymomaEnrichmentNF20.67
1551Papillary ependymomaEnrichmentNF20.67
1552T-cell acute lymphoblastic leukemiaEnrichmentABL10.67
1553AdenocarcinomaEnrichmentTP530.67
1554Bone osteosarcomaEnrichmentTP530.67
1555SpermatocytomaEnrichmentHRAS0.67
1556Tricuspid valve insufficiencyEnrichmentPTPN110.67
1557Spindle cell sarcomaEnrichmentNF20.67
1558Clear cell ependymomaEnrichmentNF20.67
1559Neonatal pseudo-hydrocephalic progeroid syndromeEnrichmentPOLR3A0.67
1560KeratoacanthomaEnrichmentPIK3CA0.67
1561Cerebral sinovenous thrombosisEnrichmentF20.67
1562Atp6v0a2-related cutis laxaEnrichmentATP6V0A20.67
1563Fundus albipunctatusEnrichmentCD630.66
1564Arima syndromeEnrichmentCEP2900.66
1565Beta-thalassemiaEnrichmentHBB0.66
1566NeutropeniaEnrichmentELANE0.66
1567Progressive familial intrahepatic cholestasisEnrichmentGLB10.66
1568Beta-thalassemia majorEnrichmentHBB0.66
1569ParkinsonismEnrichmentGRN0.66
1570Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A20.65
1571Cowden syndrome 1EnrichmentPIK3CA, PTEN0.65
1572Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR1, STUB10.65
1573Inflammatory myofibroblastic tumorEnrichmentCLTC, RANBP20.65
1574Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A20.65
1575Myocardial infarctionEnrichmentF13A1, LTA, OLR1, PSMA6, TNFSF40.65
1576Auditory neuropathyEnrichmentDIAPH1, RAB9B0.64
1577Gastric cancerEnrichmentCASP10, IL1B, KRAS, PIK3CA, TP530.64
1578Cutis laxaEnrichmentATP6V0A2, ATP6V1E10.63
1579Congenital long qt syndromeEnrichmentITPR3, PTPN110.63
1580Heinz body anemiasEnrichmentHBB0.61
1581Fetal hemoglobin quantitative trait locus 1EnrichmentHBB0.61
1582Immunodeficiency 47EnrichmentCEP2900.61
1583Severe congenital neutropeniaEnrichmentTCIRG10.61
1584Heinz body anemiaEnrichmentHBB0.61
1585Essential tremorEnrichmentDNAJC130.61
1586Choreatic diseaseEnrichmentCSTB0.61
1587Aortic valve disease 1EnrichmentSOS1, TAB20.58
1588Stereotypic movement disorderEnrichmentDNM1, SNAP250.58
1589Alpha-thalassemiaEnrichmentHBB0.57
1590Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.57
1591Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS0.56
1592Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE110.56
1593Small cell cancer of the lungEnrichmentTP530.56
1594Thyroid cancer, nonmedullary, 1EnrichmentTP530.56
1595PilomatrixomaEnrichmentCTNNB10.56
1596Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH20.56
1597Spinocerebellar ataxia 15EnrichmentITPR10.56
1598Aicardi-goutieres syndrome 1EnrichmentTREX10.56
1599Aminoacylase 1 deficiencyEnrichmentACTB0.56
1600Alazami syndromeEnrichmentCTNNB10.56
1601Nijmegen breakage syndrome-like disorderEnrichmentMRE110.56
1602Embryonal rhabdomyosarcomaEnrichmentTP530.56
1603CraniopharyngiomaEnrichmentCTNNB10.56
1604Pilocytic astrocytomaEnrichmentKRAS0.56
1605Epidermolytic nevusEnrichmentHRAS0.56
1606Familial cerebral cavernous malformationsEnrichmentPIK3CA0.56
1607Knobloch syndromeEnrichmentPAK20.56
1608Full schwannomatosisEnrichmentNF20.56
1609Benign ependymomaEnrichmentNF20.56
1610Gingival fibromatosisEnrichmentSOS10.56
1611Pseudomyogenic hemangioendotheliomaEnrichmentACTB0.56
1612ScoliosisEnrichmentCREBBP, CTSK, PTPN110.56
1613Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A10.56
1614Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A10.56
1615Amelogenesis imperfecta, type ibEnrichmentCOL17A10.56
1616Amelogenesis imperfecta, type iaEnrichmentCOL17A10.56
1617Hashimoto thyroiditisEnrichmentCTLA40.56
1618Burkitt lymphomaEnrichmentMYC0.56
1619Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A10.56
1620Blue rubber bleb nevusEnrichmentGLMN0.56
1621Familial expansile osteolysisEnrichmentTNFRSF11A0.56
1622Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A0.56
1623Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA30.56
1624Camurati-engelmann disease 1EnrichmentTGFB10.56
1625Immunodeficiency 32bEnrichmentIRF80.56
1626Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK30.56
1627Bruck syndrome 1EnrichmentCOL1A20.56
1628Chylomicron retention diseaseEnrichmentSAR1B0.56
1629Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentKIF110.56
1630Robinow-sorauf syndromeEnrichmentTWIST10.56
1631Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA0.56
1632Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL2A10.56
1633Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B0.56
1634Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR0.56
1635Diencephalic-mesencephalic junction dysplasia syndrome 1EnrichmentRNF140.56
1636Giant axonal neuropathy 1, autosomal recessiveEnrichmentGAN0.56
1637Striatonigral degeneration, infantileEnrichmentNUP620.56
1638Skin/hair/eye pigmentation, variation in, 1EnrichmentHERC20.56
1639Otopalatodigital syndrome, type iiEnrichmentFLNA0.56
1640Melnick-needles syndromeEnrichmentFLNA0.56
1641Opitz gbbb syndromeEnrichmentMID10.56
1642Schneckenbecken dysplasiaEnrichmentINPPL10.56
1643Dermatofibrosarcoma protuberansEnrichmentCOL1A10.56
1644Parkinson disease 12EnrichmentPRKN0.56
1645West nile virusEnrichmentCCR50.56
1646Frontometaphyseal dysplasia 1EnrichmentFLNA0.56
1647Vexas syndromeEnrichmentUBA10.56
1648Vacterl association, x-linked, with or without hydrocephalusEnrichmentFANCL0.56
1649Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R50.56
1650Xanthinuria, type iEnrichmentXDH0.56
1651Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA0.56
1652Crisponi/cold-induced sweating syndrome 2EnrichmentCLCF10.56
1653Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA0.56
1654Fanconi anemia, complementation group nEnrichmentDCTN50.56
1655Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA40.56
1656Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK0.56
1657Immunodeficiency with hyper-igm, type 2EnrichmentTNFRSF13B0.56
1658Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentCUL30.56
1659Welander distal myopathyEnrichmentSQSTM10.56
1660Spastic paraplegia, optic atrophy, and neuropathyEnrichmentKLC20.56
1661Legg-calve-perthes diseaseEnrichmentCOL2A10.56
1662Agammaglobulinemia 6, autosomal recessiveEnrichmentCD79B0.56
1663Melanoma, cutaneous malignant 6EnrichmentKLC10.56
1664Dyschromatosis symmetrica hereditariaEnrichmentADAR0.56
1665Immunodeficiency 9EnrichmentORAI10.56
1666Sarcoidosis 2EnrichmentBTNL20.56
1667Diaphyseal medullary stenosis with malignant fibrous histiocytomaEnrichmentMTAP0.56
1668Neutrophilia, hereditaryEnrichmentCSF3R0.56
1669Epithelial recurrent erosion dystrophyEnrichmentCOL17A10.56
1670Creutzfeldt-jakob diseaseEnrichmentHLA-DQB10.56
1671Roifman-chitayat syndromeEnrichmentPIK3CD0.56
1672Maturity-onset diabetes of the young, type 11EnrichmentBLK0.56
1673Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentKEAP10.56
1674Chromosome 16p11.2 deletion syndrome, 220-kbEnrichmentSH2B10.56
1675Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsEnrichmentERAP10.56
1676Immunodeficiency 45EnrichmentIFNAR20.56
1677Growth hormone deficiency, isolated partialEnrichmentGHR0.56
1678Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL2A10.56
1679Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A0.56
1680Pancreatic cancer 3EnrichmentDCTN50.56
1681Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I20.56
1682Thrombocythemia 3EnrichmentJAK20.56
1683Immunodeficiency 51EnrichmentIL17RA0.56
1684Osteopetrosis, autosomal recessive 2EnrichmentTNFSF110.56
1685Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentCSF3R0.56
1686Multiple endocrine neoplasia, type ivEnrichmentCDKN1B0.56
1687Spinocerebellar ataxia, autosomal recessive 24EnrichmentUBA50.56
1688Aicardi-goutieres syndrome 6EnrichmentADAR0.56
1689Neurodevelopmental disorder with hypotonia, seizures, and absent languageEnrichmentHECW20.56
1690Dystonia 16EnrichmentPRKRA0.56
1691Loeys-dietz syndrome 3EnrichmentSMAD30.56
1692Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB100.56
1693Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM10.56
1694Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A10.56
1695Epidermolysis bullosa, junctional 4, intermediateEnrichmentCOL17A10.56
1696Sweeney-cox syndromeEnrichmentTWIST10.56
1697Periventricular nodular heterotopia 8EnrichmentARF10.56
1698Immunodeficiency, common variable, 15EnrichmentSEC61A10.56
1699Immunodeficiency 121 with autoinflammationEnrichmentPSMB100.56
1700Cardiac valvular dysplasia, x-linkedEnrichmentFLNA0.56
1701Spinocerebellar ataxia 48EnrichmentSTUB10.56
1702Nephrotic syndrome, type 17EnrichmentNUP850.56
1703Cebalid syndromeEnrichmentMTOR0.56
1704Keratoconus 9EnrichmentTUBA3D0.56
1705Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A10.56
1706Spinal muscular atrophy, x-linked 2EnrichmentUBA10.56
1707Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB10.56
1708Pettigrew syndromeEnrichmentAP1S20.56
1709Kowarski syndromeEnrichmentGH10.56
1710Autoimmune disease, multisystem, infantile-onset, 3EnrichmentCBLB0.56
1711Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A0.56
1712Intellectual developmental disorder, x-linked, syndromic, pilorge typeEnrichmentFANCB0.56
1713Immunodeficiency 56EnrichmentIL21R0.56
1714Rhabdoid tumor predisposition syndromeEnrichmentSMARCA40.56
1715Microcephaly and chorioretinopathy 1EnrichmentKIF110.56
1716Lissencephaly 3EnrichmentTUBA1A0.56
1717Fanconi anemia, complementation group eEnrichmentFANCE0.56
1718Myopathy, tubular aggregate, 2EnrichmentORAI10.56
1719Aortic dissectionEnrichmentCOL3A10.56
1720Recessive dystrophic epidermolysis bullosaEnrichmentMMP10.56
1721Immunodeficiency, common variable, 4EnrichmentTNFRSF13C0.56
1722Senior-loken syndrome 7EnrichmentAKT30.56
1723Agammaglobulinemia 4EnrichmentBLNK0.56
1724Agammaglobulinemia 6EnrichmentCD79B0.56
1725Transaldolase deficiencyEnrichmentTALDO10.56
1726Cataract 30EnrichmentVIM0.56
1727Macrocephaly, dysmorphic facies, and psychomotor retardationEnrichmentHERC10.56
1728Spastic paraplegia 37, autosomal dominantEnrichmentKPNA30.56
1729Chromosome 16p11.2 deletion syndrome, 593-kbEnrichmentSH2B10.56
1730Camurati-engelmann diseaseEnrichmentTGFB10.56
1731Inflammatory bowel disease 28EnrichmentIL10RA0.56
1732Stickler syndrome, type iiEnrichmentCOL1A10.56
1733Severe congenital neutropenia 7EnrichmentCSF3R0.56
1734Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM170.56
1735Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK10.56
1736Multiple sclerosis 3EnrichmentIL7R0.56
1737Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB30.56
1738Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M10.56
1739Spastic tetraplegia and axial hypotonia, progressiveEnrichmentSOD10.56
1740Familial avascular necrosis of the femoral headEnrichmentCOL2A10.56
1741Otosclerosis 12EnrichmentSMARCA40.56
1742Mitochondrial complex iv deficiency, nuclear type 12EnrichmentSTXBP20.56
1743Coffin-siris syndrome 4EnrichmentSMARCA40.56
1744Autosomal dominant primary microcephalyEnrichmentLMNB10.56
1745Bardet-biedl syndrome 16EnrichmentAKT30.56
1746Cold-induced sweating syndrome 2EnrichmentCLCF10.56
1747B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA30.56
1748Paget's disease of boneEnrichmentSQSTM10.56
1749Epilepsy, progressive myoclonic, 3, with or without intracellular inclusionsEnrichmentKCTD70.56
1750Cold-induced sweating syndrome including crisponi syndromeEnrichmentCRLF10.56
1751Mid1-related opitz g/bbb syndromeEnrichmentMID10.56
1752Smith-kingsmore syndromeEnrichmentMTOR0.56
1753Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA30.56
1754AcromegalyEnrichmentAIP0.56
1755Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA0.56
1756PolycythemiaEnrichmentJAK20.56
1757Autosomal recessive sideroblastic anemiaEnrichmentHSPA90.56
1758Blepharophimosis - intellectual disability syndromeEnrichmentUBE3B0.56
1759Torsion dystonia 4EnrichmentTUBB4A0.56
1760Giant axonal neuropathy 1EnrichmentGAN0.56
1761Buratti-harel syndromeEnrichmentSIAH10.56
1762Demyelinating polyneuropathyEnrichmentKIF5A0.56
1763Distal hereditary motor neuropathy type 7EnrichmentDCTN10.56
1764Short stature due to growth hormone qualitative anomalyEnrichmentGH10.56
1765BronchiectasisEnrichmentBRWD10.56
1766Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentCOL17A10.56
1767Multifocal pattern dystrophy simulating fundus flavimaculatusEnrichmentUBR20.56
1768Autosomal dominant nonsyndromic deafnessEnrichmentGATA30.56
1769CaddsEnrichmentBCAP310.56
1770Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2140.56
1771Hypereosinophilic syndromeEnrichmentJAK20.56
1772Immunodeficiency 117EnrichmentIRF10.56
1773Van der woude syndromeEnrichmentIRF60.56
1774Acute leukemia of ambiguous lineageEnrichmentVHL0.56
1775Dentinogenesis imperfectaEnrichmentCOL1A20.56
1776Primary mediastinal large b-cell lymphomaEnrichmentBCL60.56
1777Symmetrical dyschromatosis of extremitiesEnrichmentADAR0.56
1778Angelman syndrome due to maternal 15q11q13 deletionEnrichmentUBE3A0.56
1779Non-syndromic sagittal craniosynostosisEnrichmentTWIST10.56
1780Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT30.56
1781Skeletal muscle diseaseEnrichmentKIF5B0.56
1782Juvenile polyposis of infancyEnrichmentPTEN0.56
1783Factor xiii deficiencyEnrichmentF13A10.56
1784Null pituitary adenomaEnrichmentAIP0.56
1785Diaphyseal medullary stenosis-bone malignancy syndromeEnrichmentMTAP0.56
1786Acute necrotizing encephalopathy of childhoodEnrichmentRANBP20.56
1787Familial isolated pituitary adenomaEnrichmentAIP0.56
1788Silent pituitary adenomaEnrichmentAIP0.56
1789Continuous spikes and waves during sleepEnrichmentTUBA1A0.56
1790Laron syndrome with immunodeficiencyEnrichmentSTAT5B0.56
1791GigantismEnrichmentAIP0.56
1792Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosisEnrichmentRBCK10.56
1793Esophageal cancerEnrichmentRNF6, TP530.55
1794Prader-willi syndromeEnrichmentHERC2, NDN0.55
1795Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B0.55
1796Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A20.55
1797Mitochondrial dna depletion syndrome 4aEnrichmentEDAR, RANBP20.55
1798Squamous cell carcinoma, head and neckEnrichmentPTEN, TP530.55
1799Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B0.55
1800Renal cell carcinoma, papillary, 1EnrichmentMTOR, VHL0.55
1801Childhood-onset nemaline myopathyEnrichmentKBTBD13, KLHL410.55
1802Overgrowth syndromeEnrichmentMTOR, PIK3R10.55
1803Moyamoya angiopathyEnrichmentABL1, RNF2130.55
1804Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentPOLR3B, RNF2160.54
1805Lung cancer susceptibility 3EnrichmentKRAS, TP530.54
1806Heart diseaseEnrichmentABL1, CREBBP0.54
180746,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS10.54
1808Ciliary dyskinesia, primary, 3EnrichmentNFKB10.53
1809Progressive myoclonus epilepsyEnrichmentCSTB0.53
1810Peripheral nervous system diseaseEnrichmentDYNC1H1, MME0.52
1811NeuropathyEnrichmentDYNC1H1, MME0.52
1812Hypercholesterolemia, familial, 1EnrichmentAPOB, GHR, SMARCA40.51
1813Nk-cell enteropathyEnrichmentCUL3, JAK3, PIK3CB0.51
1814Familial hypertrophic cardiomyopathyEnrichmentGLA, LAMP20.50
1815Polydactyly, postaxial, type a1EnrichmentATP6V1B1, EP3000.49
1816Lynch syndromeEnrichmentKRAS, PIK3CA0.49
1817Kidney diseaseEnrichmentCEP290, MEFV0.49
1818Presynaptic congenital myasthenic syndromesEnrichmentSNAP250.49
1819Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC30.48
1820Capillary malformations, congenitalEnrichmentPIK3CA0.48
1821Polycystic liver disease 1 with or without kidney cystsEnrichmentPRKCSH0.48
1822Hyperlipidemia, familial combined, 3EnrichmentAPOB0.48
1823Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentTREX10.48
1824Exudative vitreoretinopathy 1EnrichmentCTNNB10.48
1825Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.48
1826Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.48
1827Deafness, autosomal recessive 63EnrichmentMYH90.48
1828Knobloch syndrome 1EnrichmentPAK20.48
1829Congenital disorder of glycosylation, type ilEnrichmentATP6V0A20.48
1830Developmental and epileptic encephalopathy 31aEnrichmentDNM10.48
1831Rubinstein-taybi syndrome 2EnrichmentEP3000.48
1832Pre-eclampsiaEnrichmentNOS30.48
1833Spastic diplegiaEnrichmentIFIH10.48
1834Polycystic liver disease 1EnrichmentPRKCSH0.48
1835Alg9-congenital disorder of glycosylationEnrichmentATP6V0A20.48
1836Vascular dementiaEnrichmentTREX10.48
1837Inherited acute myeloid leukemiaEnrichmentDDX410.48
1838Coloboma of choroid and retinaEnrichmentACTG10.48
1839Myopathy, tubular aggregate, 1EnrichmentORAI1, STIM10.47
1840Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A1, FGG0.47
1841Fanconi anemia, complementation group cEnrichmentFANCC, FLNA0.47
1842Mitochondrial dna depletion syndrome 4bEnrichmentEDAR, RANBP20.47
1843NeuroblastomaEnrichmentHACE1, SMARCA40.47
1844DystoniaEnrichmentCSTB, IMPDH20.46
1845Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.46
1846Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentJUP0.46
1847Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentJUP0.46
1848Creatine phosphokinase, elevated serumEnrichmentGAA, TRIM320.46
1849Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDDX3X, PLA2G60.46
1850Isolated elevated serum creatine phosphokinase levelsEnrichmentGAA, TRIM320.46
1851OsteoporosisEnrichmentCOL1A1, COL1A2, SRC0.45
1852Periventricular nodular heterotopiaEnrichmentARF1, FLNA, NEDD4L0.45
1853Seckel syndromeEnrichmentCENPE, NUP85, TRAIP0.45
1854Developmental and epileptic encephalopathyEnrichmentSNAP25, SPTAN10.45
1855Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, ATP11A, GSDME, MYH9, MYO1C0.44
1856Senior-loken syndrome 1EnrichmentCEP2900.43
1857Chromosome 1p36 deletion syndromeEnrichmentKCNAB20.43
1858Polycystic liver diseaseEnrichmentCTNNB1, PRKCSH0.42
1859Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, PRKCSH0.42
1860Glaucoma, primary open angleEnrichmentOPTN0.42
1861Klippel-trenaunay-weber syndromeEnrichmentPIK3CA0.42
1862Li-fraumeni syndromeEnrichmentTP530.42
1863Myopathy, centronuclear, 1EnrichmentDNM20.42
1864Weyers acrofacial dysostosisEnrichmentCTNNB10.42
1865Waardenburg syndrome, type 4aEnrichmentPOLR2F0.42
1866Hemangioma, capillary infantileEnrichmentMYH90.42
1867Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.42
1868Pulmonary fibrosisEnrichmentMUC5B0.42
1869HypertrichosisEnrichmentCREBBP0.42
1870Waardenburg syndromeEnrichmentPOLR2F0.42
1871Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS0.41
1872Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK30.41
1873Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT30.41
1874Prune belly syndromeEnrichmentFLNA0.41
1875Mccune-albright syndromeEnrichmentCOL2A10.41
1876Craniosynostosis 1EnrichmentTWIST10.41
1877Van der woude syndrome 1EnrichmentIRF60.41
1878Larsen syndromeEnrichmentFLNB0.41
1879RetinoblastomaEnrichmentFANCM0.41
1880Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A10.41
1881Arterial tortuosity syndromeEnrichmentFLNA0.41
1882OpsismodysplasiaEnrichmentINPPL10.41
1883Polycythemia veraEnrichmentJAK20.41
1884Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL0.41
1885Tuberous sclerosis 1EnrichmentIFNG0.41
1886Periventricular nodular heterotopia 1EnrichmentFLNA0.41
1887Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R0.41
1888Three m syndrome 1EnrichmentCUL70.41
1889Severe combined immunodeficiency, x-linkedEnrichmentIL2RG0.41
1890Tooth agenesis, selective, 2EnrichmentEDA0.41
1891Glomerulopathy with fibronectin deposits 2EnrichmentFN10.41
1892Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC0.41
1893Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP20.41
1894Combined immunodeficiency, x-linkedEnrichmentIL2RG0.41
1895Spondylocarpotarsal synostosis syndromeEnrichmentFLNB0.41
1896Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB10.41
1897Psoriatic arthritisEnrichmentLTA0.41
1898Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB10.41
1899Heparin cofactor ii deficiencyEnrichmentEIF4G30.41
1900Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A0.41
1901Cone-rod dystrophy 12EnrichmentCRLF10.41
1902Spondyloepimetaphyseal dysplasia, genevieve typeEnrichmentTRIM140.41
1903Chromosome 5q14.3 deletion syndrome, distalEnrichmentNEDD4L0.41
1904Congenital short bowel syndromeEnrichmentFLNA0.41
1905Caffey diseaseEnrichmentCOL1A10.41
1906Tuberous sclerosis 2EnrichmentIFNG0.41
1907Pituitary adenoma 1, multiple typesEnrichmentAIP0.41
1908Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentCTLA40.41
1909Immunodeficiency 28EnrichmentIFNGR20.41
1910Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB80.41
1911Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A0.41
1912Developmental and epileptic encephalopathy 44EnrichmentUBA50.41
1913Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC0.41
1914Breast-ovarian cancer, familial 5EnrichmentDCTN50.41
1915Primary polycythemiaEnrichmentVHL0.41
1916Fanconi anemia, complementation group fEnrichmentFANCF0.41
1917Microvillus inclusion diseaseEnrichmentSTX30.41
1918Hyper ige syndromeEnrichmentSTAT30.41
1919Torsion dystonia 1EnrichmentEIF2AK20.41
1920Isolated growth hormone deficiency, type ibEnrichmentGH10.41
1921Asparagine synthetase deficiencyEnrichmentCTLA40.41
1922Neurodevelopmental disorder with hypotonia and gross motor and speech delayEnrichmentUBE4A0.41
1923Inflammatory bowel disease 25EnrichmentIL10RB0.41
1924Xanthinuria, type iiEnrichmentXDH0.41
1925Moyamoya disease 2EnrichmentRNF2130.41
1926Diencephalic-mesencephalic junction dysplasiaEnrichmentRNF140.41
1927Immunodeficiency, common variable, 11EnrichmentIL210.41
1928End stage renal diseaseEnrichmentGATA30.41
1929Laryngeal squamous cell carcinomaEnrichmentPTEN0.41
1930Growth hormone secreting pituitary adenomaEnrichmentAIP0.41
1931Aip familial isolated pituitary adenomasEnrichmentAIP0.41
1932Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentCTLA40.41
1933Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentFBXO110.41
1934Neonatal inflammatory skin and bowel diseaseEnrichmentADAM170.41
1935Mixed phenotype acute leukemia with tEnrichmentFLT30.41
1936Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentUBE3A0.41
1937Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC0.41
1938Myoclonic epilepsy of unverricht and lundborgEnrichmentCSTB0.41
1939CataractEnrichmentCOPB10.41
1940Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentJUP0.41
1941Familial hypercholesterolemiaEnrichmentAPOB, GHR, SMARCA40.40
1942Tooth agenesis, selective, 1EnrichmentEDA, EDA2R0.40
1943Inflammatory bowel disease 1EnrichmentIL6, NOD20.40
1944Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R, FLT30.40
1945Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B0.40
1946Ventricular septal defectEnrichmentRPS6KA3, SMARCA40.40
1947Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A1, SMAD30.40
1948Rare genetic deafnessEnrichmentACTG1, ATP6V1B1, DIAPH1, GAA, GSDME, MYH9, POLR2F0.40
1949Charcot-marie-tooth disease type 4EnrichmentDYNC1H1, PLD30.39
1950Leber plus diseaseEnrichmentCCT2, CEP290, IMPDH1, TUBB4B0.38
1951Waardenburg syndrome, type 1EnrichmentPOLR2F0.37
1952Waardenburg syndrome, type 2eEnrichmentPOLR2F0.37
1953Undetermined early-onset epileptic encephalopathyEnrichmentATP6V1A, CYFIP2, DNM1, LIMK1, PPP3CA0.37
1954Hereditary spastic paraplegiaEnrichmentRAB9B, SPTAN10.37
1955Wolff-parkinson-white syndromeEnrichmentJUP0.37
1956Hydrocephalus, congenital, 1EnrichmentTUBB0.37
1957Arrhythmogenic right ventricular cardiomyopathyEnrichmentJUP0.37
1958Arteriovenous malformations of the brainEnrichmentKRAS, NLRP30.36
1959Hypertrophic cardiomyopathyEnrichmentGLA, LAMP20.35
1960Ovarian cancerEnrichmentAKT1, CDKN1B, CTNNB1, FANCA, FANCC, FANCE, FANCG, KRAS, MAP3K1, MRE11, MUC16, PIK3CA, PRKN, PTEN, RNASEL, TP530.35
1961Pancreatitis, hereditaryEnrichmentPRSS20.35
1962Cataract 44EnrichmentPGRMC10.35
1963Amyotrophic lateral sclerosis 1EnrichmentDCTN1, SOD10.34
1964Galloway-mowat syndromeEnrichmentNUP107, NUP1330.34
1965NephrocalcinosisEnrichmentATP6V1B1, RNF2130.34
1966Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB10.34
1967Williams-beuren syndromeEnrichmentLIMK1, NCF10.34
1968Neuromuscular diseaseEnrichmentSPTAN10.33
1969Polycystic kidney diseaseEnrichmentCEP2900.33
1970Gastroesophageal refluxEnrichmentRPS6KA30.33
1971Orthostatic intoleranceEnrichmentRPS6KA30.33
1972Exudative vitreoretinopathyEnrichmentCTNNB10.33
1973Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.33
1974Homozygous familial hypercholesterolemiaEnrichmentAPOB0.33
1975Kaposi sarcomaEnrichmentIL60.32
1976Isolated growth hormone deficiency, type iiEnrichmentGH10.32
1977Mulibrey nanismEnrichmentTRIM370.32
1978PhenylketonuriaEnrichmentCOL1A10.32
1979Microphthalmia, syndromic 3EnrichmentSOX20.32
1980Erythrocytosis, familial, 2EnrichmentVHL0.32
1981Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.32
1982Infantile sialic acid storage diseaseEnrichmentRAG20.32
1983Saethre-chotzen syndromeEnrichmentTWIST10.32
1984Focal cortical dysplasia, type iiEnrichmentMTOR0.32
1985Retinitis pigmentosa 26EnrichmentITGA40.32
1986Salla diseaseEnrichmentRAG20.32
1987Lymphoproliferative syndrome 2EnrichmentCD270.32
1988Chondrocalcinosis 2EnrichmentTNFRSF11B0.32
1989Schaaf-yang syndromeEnrichmentNDN0.32
1990Au-kline syndromeEnrichmentVHL0.32
1991Mantle cell lymphomaEnrichmentCCND10.32
1992Cold-induced sweating syndrome 1EnrichmentCRLF10.32
1993Chronic myelomonocytic leukemiaEnrichmentFLT30.32
1994Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC0.32
1995Aortic aneurysmEnrichmentSMAD30.32
1996ProlactinomaEnrichmentAIP0.32
1997AnencephalyEnrichmentTRIM360.32
1998Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT30.32
1999Adenosine deaminase deficiencyEnrichmentJAK30.32
20002p21 microdeletion syndromeEnrichmentPPM1B0.32
2001Vacterl associationEnrichmentFANCL0.32
2002Non-syndromic bicoronal craniosynostosisEnrichmentTWIST10.32
2003Primary hyperparathyroidismEnrichmentCDKN1B0.32
2004Complex hereditary spastic paraplegiaEnrichmentPRKN0.32
2005Intermediate nemaline myopathyEnrichmentKLHL410.32
2006Isolated focal cortical dysplasia type iiEnrichmentMTOR0.32
2007GliomaEnrichmentPTEN0.32
2008Middle aortic syndromeEnrichmentRNF2130.32
2009Cleft lip and alveolusEnrichmentIRF60.32
2010Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS20.32
2011Cleft palate, isolatedEnrichmentFLNA, IRF6, SMARCA40.32
2012HepatoblastomaEnrichmentCTNNB1, TP530.31
2013Parkinson's diseaseEnrichmentPSAP0.31
2014Hereditary breast carcinomaEnrichmentAKT1, DCTN5, FANCM, KRAS, PIK3CA, PTEN, TP530.30
2015CraniosynostosisEnrichmentMAN2B10.30
2016Mhc class ii deficiency 1EnrichmentCIITA, TAP20.29
2017Meningioma, familialEnrichmentNF2, PTEN0.29
2018Cardiomyopathy, familial hypertrophic, 4EnrichmentNCF10.29
2019Charge syndromeEnrichmentEP3000.29
2020Primary hyperaldosteronismEnrichmentTP530.29
2021Colonic benign neoplasmEnrichmentMRE110.29
2022Limb-girdle muscular dystrophyEnrichmentTRIM320.29
2023Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B, DYNC1H10.28
2024Dilated cardiomyopathyEnrichmentJUP, LAMP2, VCL0.28
2025Pancreatic cancerEnrichmentFANCE, FANCG, KRAS, TP530.28
2026Primary ovarian insufficiencyEnrichmentBRWD1, FANCA, IGF2R, JAK2, LRRC41, NOS3, PRLR, RICTOR, SH2B10.27
2027Kallmann syndromeEnrichmentDUSP6, POLR2F0.27
2028Skin diseaseEnrichmentNCSTN0.27
2029Cerebral palsyEnrichmentF2, KLHL3, SAMHD1, SMARCA4, TUBA1A, TUBB4A0.27
2030Cat eye syndromeEnrichmentACTG10.26
2031Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.26
2032NephrolithiasisEnrichmentATP6V1B10.26
2033Familial isolated dilated cardiomyopathyEnrichmentPSEN1, VCL0.26
2034Congenital stationary night blindnessEnrichmentCD630.26
2035Retinal detachmentEnrichmentCOL2A10.25
2036Fanconi anemia, complementation group d2EnrichmentVHL0.25
2037Hydatidiform mole, recurrent, 1EnrichmentNCR10.25
2038Vater/vacterl associationEnrichmentFANCL0.25
2039Kearns-sayre syndromeEnrichmentKIF5B0.25
2040Parkinson disease 2, autosomal recessive juvenileEnrichmentPRKN0.25
2041Macrocephaly/autism syndromeEnrichmentPTEN0.25
2042Major depressive disorderEnrichmentFKBP50.25
2043Fuchs' endothelial dystrophyEnrichmentZEB10.25
2044Pervasive developmental disorderEnrichmentFBXW70.25
2045Parkin type of early-onset parkinson diseaseEnrichmentPRKN0.25
2046Cleft upper lipEnrichmentIRF60.25
2047Aggressive systemic mastocytosisEnrichmentCBL0.25
2048Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT30.25
2049Genetic motor neuron diseaseEnrichmentDCTN10.25
2050Free sialic acid storage disorderEnrichmentRAG20.25
2051Severe congenital nemaline myopathyEnrichmentKLHL410.25
2052Rare pervasive developmental disorderEnrichmentFBXW70.25
2053Idiopathic aplastic anemiaEnrichmentIFNG0.25
2054Familial cerebral saccular aneurysmEnrichmentCOL3A10.25
2055Early-onset parkinson's diseaseEnrichmentPRKN, SNCA0.25
205646 xx gonadal dysgenesisEnrichmentNUP107, POLR3H0.25
2057Migraine with or without aura 1EnrichmentTAB20.23
2058Pectus excavatumEnrichmentPTPN110.23
205946,xy complete gonadal dysgenesisEnrichmentMAP3K10.23
2060Movement diseaseEnrichmentPOLR3A0.23
2061Jeune thoracic dystrophyEnrichmentSPTAN10.23
2062Hereditary breast ovarian cancer syndromeEnrichmentDCTN5, FANCM, KRAS, LCP1, MRE11, PTEN, RIPK1, TP530.23
2063Complex neurodevelopmental disorderEnrichmentAP1G1, ATP6V0A1, CUL3, EIF4A2, FBXO11, FBXW11, HUWE1, OTUD5, PAK3, PPP2CA, PSMD12, PTPN23, RALA, RLIM, RORA, SIAH1, TRIP12, WASF10.22
2064Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A20.22
2065SchizophreniaEnrichmentABCA13, CHI3L10.21
2066EpicanthusEnrichmentPTPN110.21
2067Type 2 diabetes mellitusEnrichmentAKT2, IL6, IRS1, IRS2, PTPN1, RETN0.21
2068Angelman syndromeEnrichmentUBE3A0.21
2069Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB10.21
2070Epidermolysis bullosa, junctional 1a, intermediateEnrichmentCOL17A10.21
2071Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.21
2072Type 1 diabetes mellitusEnrichmentIL60.21
2073Inguinal herniaEnrichmentRNF2130.21
2074Junctional epidermolysis bullosa non-herlitz typeEnrichmentCOL17A10.21
2075Mitochondrial dna depletion syndromeEnrichmentFBXL40.21
2076KeratoconusEnrichmentCOL1A10.21
2077Early myoclonic encephalopathyEnrichmentTUBA1A0.21
2078Multicystic kidney dysplasiaEnrichmentKIF4A0.21
2079Syndromic rod-cone dystrophyEnrichmentKIF110.21
2080Typical nemaline myopathyEnrichmentKLHL410.21
2081Multicystic dysplastic kidneyEnrichmentKIF4A0.21
2082Sporadic pheochromocytoma/secreting paragangliomaEnrichmentVHL0.21
2083Asphyxiating thoracic dystrophyEnrichmentSPTAN10.20
2084Endometrial cancerEnrichmentAREL1, PIK3CA, PTEN0.20
2085Meckel syndrome, type 1EnrichmentCEP2900.19
2086Aortic aneurysm, familial thoracic 1EnrichmentCOL3A1, SMAD30.19
2087Pituitary stalk interruption syndromeEnrichmentFANCA, FANCG0.19
2088Chronic kidney diseaseEnrichmentCFH0.19
2089Prostate cancerEnrichmentPIK3CA, PTEN, RNASEL, TP530.19
2090Hirschsprung disease 1EnrichmentATP7A, POLR2F0.18
2091West syndromeEnrichmentCNPY3, DNM1, SPTAN10.18
2092MedulloblastomaEnrichmentCTNNB10.17
2093Coats diseaseEnrichmentRNF140.17
2094Renal cell carcinoma with mit translocationsEnrichmentCLTC0.17
2095MegacolonEnrichmentAKT30.17
2096Congenital hydrocephalusEnrichmentTRIM710.17
2097Familial isolated restrictive cardiomyopathyEnrichmentKIF20A0.17
2098Renal cell carcinoma, nonpapillaryEnrichmentMTOR, VHL0.17
2099Corpus callosum, agenesis ofEnrichmentCREBBP, TUBA1A0.17
2100Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A20.17
2101Isolated corpus callosum agenesisEnrichmentCREBBP, TUBA1A0.17
2102Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP, TUBA1A0.17
2103Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.16
2104NephronophthisisEnrichmentCEP2900.16
2105Anterior segment dysgenesisEnrichmentITPR10.16
2106Long qt syndromeEnrichmentCALM1, CALM20.16
2107Left ventricular noncompactionEnrichmentLAMP20.15
2108Non-syndromic x-linked intellectual disabilityEnrichmentHUWE10.14
2109Diamond-blackfan anemiaEnrichmentADA20.14
2110HypertensionEnrichmentMYH90.14
2111Isolated growth hormone deficiency, type iaEnrichmentGH10.14
2112CryptorchidismEnrichmentTUBA1A0.14
2113Permanent neonatal diabetes mellitusEnrichmentSTAT30.14
2114Fetal akinesia deformation sequence 1EnrichmentASAH10.14
2115Autism spectrum disorderEnrichmentCDK13, CSNK2B, DYNC1H10.13
2116Hypertension, essentialEnrichmentNOS30.13
2117Sudden infant death syndromeEnrichmentCALM20.13
2118Dandy-walker syndromeEnrichmentMID1, TUBA1A0.13
2119EpilepsyEnrichmentDIAPH10.12
2120Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP60.12
2121Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.11
2122Leukemia, acute lymphoblastic 3EnrichmentJAK20.11
2123Myoclonic-atonic epilepsyEnrichmentAP2M10.11
2124Loeys-dietz syndromeEnrichmentSMAD30.11
2125Junctional epidermolysis bullosaEnrichmentCOL17A10.11
2126Mhc class ii deficiencyEnrichmentCIITA0.11
2127Distal arthrogryposisEnrichmentASAH10.11
2128Bardet-biedl syndromeEnrichmentCEP2900.11
2129Autosomal recessive limb-girdle muscular dystrophyEnrichmentTRIM320.11
2130Nephrotic syndromeEnrichmentGLA0.11
2131Optic atrophy plus syndromeEnrichmentSNAP250.10
2132Cataract 30, multiple typesEnrichmentVIM0.10
2133Marfan syndromeEnrichmentCOL2A10.10
2134Amelogenesis imperfecta, type ieEnrichmentCOL17A10.10
2135Aplastic anemiaEnrichmentIFNG0.10
2136Stickler syndromeEnrichmentCOL2A10.10
2137Nemaline myopathyEnrichmentKLHL410.10
2138MelanomaEnrichmentPTEN0.10
2139AchromatopsiaEnrichmentATF60.10
2140Mitochondrial encephalomyopathyEnrichmentFBXL40.10
2141Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A1, FLNA, PRKG1, SMAD30.09
2142Cardiomyopathy, dilated, 1aEnrichmentNFATC20.09
2143Centronuclear myopathyEnrichmentDNM20.09
2144Focal segmental glomerulosclerosisEnrichmentNUP93, TRIM80.08
2145Joubert syndrome 1EnrichmentCEP2900.08
2146Leukemia, acute lymphoblasticEnrichmentFLT30.08
2147NanophthalmosEnrichmentSOX20.08
2148Atrial heart septal defectEnrichmentSMARCA40.08
2149IchthyosisEnrichmentIL2RB0.08
2150Uterine corpus cancerEnrichmentPTEN0.08
2151Interatrial communicationEnrichmentSMARCA40.08
2152Diamond-blackfan anemia 1EnrichmentTP530.08
2153Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.07
2154Septooptic dysplasiaEnrichmentSOX20.07
2155Digeorge syndromeEnrichmentSEC24C0.07
2156Congenital hypothyroidismEnrichmentTUBB10.07
2157Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentHUWE10.06
2158Connective tissue diseaseEnrichmentCOL2A1, FLNB, SMAD30.06
2159Neural tube defectsEnrichmentITGB10.06
2160Amelogenesis imperfectaEnrichmentCOL17A10.06
2161Brittle bone disorderEnrichmentCOL1A1, COL1A20.06
2162StrabismusEnrichmentPTPN110.05
2163PheochromocytomaEnrichmentVHL0.05
2164Cleft lip/palateEnrichmentIRF60.05
2165Isolated macular dystrophyEnrichmentITGA40.05
2166CakutEnrichmentACTG1, GATA3, LIFR0.04
2167Inherited cancer-predisposing syndromeEnrichmentAIP, CDKN1B, CYLD, DCTN5, FANCA, FANCC, FANCM, MRE11, NF2, PTEN, PTPN11, SH2B3, SMARCA4, TP53, VHL0.04
2168Cone-rod dystrophy 2EnrichmentCEP2900.04
2169Coffin-siris syndrome 1EnrichmentSMARCA40.04
2170HydrocephalusEnrichmentKIF4A0.04
2171MyopiaEnrichmentCOL2A10.04
2172Male infertility with spermatogenesis disorderEnrichmentFANCM0.04
2173HypertelorismEnrichmentPIK3CA, RPS6KA30.04
2174AutismEnrichmentATP6V0A10.04
2175Isolated congenital microcephalyEnrichmentTUBA3E0.03
2176Non-syndromic genetic deafnessEnrichmentACTG10.03
2177Early infantile developmental and epileptic encephalopathyEnrichmentTRIM80.02
2178Mitochondrial diseaseEnrichmentNDUFC20.02
2179Esophageal atresia/tracheoesophageal fistulaEnrichmentIRF80.02
2180Dyskeratosis congenitaEnrichmentNPM10.02
2181Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentSERPINB60.02
2182Macs syndromeEnrichmentSOX20.02
2183Maturity-onset diabetes of the youngEnrichmentBLK0.02
2184AzoospermiaEnrichmentFANCM0.02
2185Primary autosomal recessive microcephalyEnrichmentCENPE, NUP370.02
2186Nonsyndromic hearing lossEnrichmentACTG10.02
2187Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentVHL0.01
2188Attention deficit-hyperactivity disorderEnrichmentKIF5B0.01
2189Mitochondrial complex iv deficiency, nuclear type 1EnrichmentSTXBP20.01
2190MicrophthalmiaEnrichmentSOX20.01
2191Hereditary retinal dystrophyEnrichmentCD63, CEP290, FTH1, HGSNAT, IMPDH10.01
2192Fundus dystrophyEnrichmentCD63, CEP290, FTH1, HGSNAT, IMPDH10.01
2193Sensorineural hearing lossEnrichmentATP6V0A40.01
2194Retinitis pigmentosaEnrichmentCEP290, HGSNAT, IMPDH10.01
2195Familial atrial fibrillationEnrichmentNUP1550.01
2196Body mass index quantitative trait locus 11EnrichmentMYH90.01
2197Stargardt disease 1EnrichmentCOL2A10.00
2198Deafness, autosomal recessiveEnrichmentMYH90.00
2199Visceral heterotaxy 5EnrichmentBRWD10.00
2200Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.00
2201Autosomal recessive non-syndromic intellectual disabilityEnrichmentFBXO31, TPR, UBE4A0.00
2202Male infertilityEnrichmentBRWD10.00
2203Leigh syndrome, nuclearEnrichmentFBXL4, UBOX50.00
2204Leigh diseaseEnrichmentFBXL4, UBOX50.00

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