Cytokine Signaling in Immune system

No Pathway Network information available for Cytokine Signaling in Immune system

Pathways in the Cytokine Signaling in Immune system SuperPath

#NameSourceGenes
1Cytokine Signaling in Immune systemReactome
(see all 776) (see less)
2Signaling by InterleukinsReactome
(see all 455) (see less)

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

Disorders associated with Cytokine Signaling in Immune system SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, IFNG, IL10, IL1910.12
2Multisystem inflammatory syndrome in childrenEnrichmentIFI44, IFI44L, IFIH1, IFNA21, IFNA4, IFNA6, IFNAR2, IFNB1, IL22RA2, IRAK3, IRF3, TRAF39.37
3Noonan syndrome and noonan-related syndromeEnrichmentCBL, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SOS16.30
4Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC42, PTPN11, YWHAZ5.90
5Noonan syndrome 1EnrichmentCBL, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SOS1, SOS25.61
6Behcet syndromeEnrichmentCCR1, HLA-B, IFNGR1, IL10, IL12A, IL23R, NOD2, STAT45.32
7RasopathyEnrichmentCBL, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SOS1, SOS25.09
8Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, RAF1, SOS14.94
9Common variable immunodeficiencyEnrichmentCD40LG, NFKB1, NFKB2, RAG2, TNFRSF13B4.94
10Lung non-small cell carcinomaEnrichmentHRAS, IRF1, KRAS, MAP2K1, NRAS, PIK3CA4.91
11Chronic mucocutaneous candidiasisEnrichmentIL17F, IL17RA, IL17RC, STAT14.75
12Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, TGFB14.75
13Hepatitis c virusEnrichmentCCR5, IFNG, IFNL34.43
14Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT34.43
15High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, BCL6, MYC4.43
16Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, PTPN2, STAT44.39
17Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, PTPN2, STAT44.39
18Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentEDAR, EDARADD, RANBP2, TRAF64.29
19MalariaEnrichmentCD36, CISH, ICAM1, IKBKG, MAPKAPK3, NOS24.07
20Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, TP533.84
21Tooth agenesisEnrichmentEDA, EDA2R, EDAR, EDARADD, IRF6, RANBP2, SUMO13.81
22Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentEDAR, EDARADD, RANBP23.73
23Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB33.73
24AsthmaEnrichmentALOX5, CCL11, FKBP5, HLA-G, IL133.68
25Omenn syndromeEnrichmentIL2RG, IL7R, RAG1, RAG23.65
26Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA3.49
27Diffuse large b-cell lymphomaEnrichmentFOXO1, MYD88, SOCS1, STAT3, TP533.49
28Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK3, RAG1, RAG23.45
29Genetic steroid-resistant nephrotic syndromeEnrichmentLAMA5, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP933.27
30Fanconi anemia, complementation group aEnrichmentFANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM3.18
31Severe combined immunodeficiencyEnrichmentIKBKB, IL7R, JAK3, LCK, RAG1, RAG23.15
32Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS3.15
33Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentEDA, EDAR, RANBP23.15
34Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R23.15
35TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B3.15
36Ectodermal dysplasiaEnrichmentEDA, EDAR, RANBP23.15
37Hepatitis bEnrichmentIFNAR2, IFNGR1, IL10RB3.15
38Idiopathic achalasiaEnrichmentCRLF1, HLA-DQA1, HLA-DQB13.15
39Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB1, IL6, MIF3.15
40Familial infantile bilateral striatal necrosisEnrichmentADAR, NUP54, NUP623.15
41Primary biliary cholangitisEnrichmentIL12A, IL12RB1, IRF5, TNFSF152.97
42Immunodeficiency 33EnrichmentIKBKG, IRAK42.95
43Immunodeficiency 31cEnrichmentIL21R, STAT12.95
44Intravascular large b-cell lymphomaEnrichmentBCL2, BCL62.95
45Primary cutaneous amyloidosisEnrichmentIL31RA, OSMR2.95
46Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA2.95
47Immune system diseaseEnrichmentCDC42, PIK3CD2.95
48Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD882.95
49Systemic lupus erythematosusEnrichmentHLA-DRB1, IL10, IRAK1, IRF5, ITGAM, SOCS1, STAT4, TNFSF42.85
50Follicular lymphomaEnrichmentBCL2, BCL6, HLA-DRB12.77
51Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentEDAR, EDARADD, RANBP22.77
52Lung cancerEnrichmentCASP8, FASLG, IRF1, KRAS, MAP3K8, PIK3CA, PPP2R1B2.73
53Specific learning disabilityEnrichmentGHR, MAPK1, PTPN11, RPS6KA32.60
54Adult hepatocellular carcinomaEnrichmentCASP8, PIK3CA, TP532.57
55Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB12.49
56Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A, TNFRSF11B2.49
57Ovarian germ cell cancerEnrichmentCBL, FANCM2.49
58Severe cutaneous adverse reactionEnrichmentHLA-A, HLA-B2.49
59Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS2.49
60Ectodermal dysplasia 1, hypohidrotic, x-linkedEnrichmentEDA, EDA2R2.49
61Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB12.49
62Acute myeloid leukemia without maturationEnrichmentFLT3, NPM12.49
63Lymphomatoid papulosisEnrichmentNPM1, TYK22.49
64Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB12.49
65Singleton-merten syndromeEnrichmentIFIH1, RIGI2.49
66Malignant germ cell tumor of ovaryEnrichmentCBL, FANCM2.49
67Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM1, TYK22.49
68Granulomatosis with polyangiitisEnrichmentHLA-DPA1, HLA-DPB1, PRTN32.48
69Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB32.48
70Patent ductus arteriosusEnrichmentFLNA, PSMC3, PTPN112.48
71Combined cellular and humoral immune defects with granulomasEnrichmentRAG1, RAG22.48
72Stuve-wiedemann syndrome 1EnrichmentIL6ST, LIFR2.48
73Nasopharyngeal carcinomaEnrichmentNFKBIA, TP532.48
74Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R12.48
75Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R12.48
76Bacteremia 2EnrichmentCISH, MAPKAPK32.48
77Cold-induced sweating syndromeEnrichmentCLCF1, CRLF12.48
78Immunodeficiency 14EnrichmentPIK3CD, PIK3R12.48
79Melanoma of soft tissueEnrichmentATF1, CREB12.48
80Stüve-wiedemann syndromeEnrichmentIL6ST, LIFR2.48
81Breast cancerEnrichmentAKT1, CASP8, FANCC, FANCM, IL2, IL7R, JUN, KRAS, PIK3CA, SHC1, TP532.47
82Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, PTPN112.44
83Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, PIK3CD, PIK3R12.42
84Colorectal cancerEnrichmentADAR, AKT1, CCND1, FANCC, FANCE, NRAS, PIK3CA, PIK3R1, PTPN12, PTPRJ, SRC, TP532.42
85Myeloma, multipleEnrichmentCCND1, FLT3, H3C1, IL7R, KRAS, PIK3R2, SAMHD1, SH2B3, TP532.38
86Acute promyelocytic leukemiaEnrichmentNPM1, PML, STAT3, STAT5B2.30
87MyelofibrosisEnrichmentJAK2, SH2B3, SRC2.26
88Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA2.26
89Essential thrombocythemiaEnrichmentJAK2, SH2B3, TP532.26
90Gallbladder cancerEnrichmentKRAS, PIK3CA, TP532.26
91B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT3, HLA-C, TP532.26
92Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK12.19
93TuberculosisEnrichmentCISH, MAPKAPK32.19
94Cerebral malariaEnrichmentCD36, ICAM12.19
95Pediatric systemic lupus erythematosusEnrichmentIRAK1, STAT42.19
96Leukemia, acute myeloidEnrichmentFLT3, JAK2, KRAS, NPM1, NRAS, NUP214, TP532.16
97Autoinflammatory diseaseEnrichmentIL1RN, IL36RN, NOD2, STXBP22.11
98Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF12.08
99Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB1, TNFSF42.08
100Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB82.03
101Takayasu arteritisEnrichmentHLA-B, IL12B2.03
102Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS2.03
103Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.03
104Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB82.03
105Frontometaphyseal dysplasiaEnrichmentFLNA, MAP3K72.03
106Immunodeficiency 44EnrichmentIFNAR2, STAT22.03
107Adult-onset myasthenia gravisEnrichmentHLA-DQA1, TNFRSF11A2.03
108Crisponi/cold-induced sweating syndrome 1EnrichmentCLCF1, CRLF11.98
109Rhabdomyosarcoma 2EnrichmentFOXO1, TP531.98
110Rheumatoid arthritis, systemic juvenileEnrichmentIL6, MIF1.98
111LymphomaEnrichmentPTPN11, TP531.98
112Myeloproliferative neoplasmEnrichmentCBL, JAK21.98
113Histiocytoid hemangiomaEnrichmentFOS, VIM1.98
114Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RA, CSF2RB1.98
115Rheumatoid arthritisEnrichmentCIITA, IL10, IRF51.92
116Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA1.92
117Aicardi-goutiares syndromeEnrichmentADAR, IFIH1, SAMHD11.92
118Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, HNRNPA2B1, MEF2C, SOD1, SQSTM1, TBK11.89
119Osteogenesis imperfecta, type iEnrichmentCOL1A2, P4HB1.81
120Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB, TGFB11.81
121Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA1.78
122Aicardi-goutieres syndromeEnrichmentADAR, IFIH1, SAMHD11.78
123Patent foramen ovaleEnrichmentFLNA, PSMC3, PTPN11, TAB21.77
124Erythrocytosis, familial, 1EnrichmentJAK2, SH2B31.74
125Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K11.74
126Temporal arteritisEnrichmentHLA-B, HLA-DRB11.74
127Paget disease of bone 2, early-onsetEnrichmentSQSTM1, TNFRSF11A1.74
128Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R21.74
129Immunodeficiency, common variable, 1EnrichmentNFKB2, TNFRSF13B1.74
130Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K11.74
131Lung sarcomatoid carcinomaEnrichmentKRAS, TP531.74
132Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS1.74
133Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF11.74
134Paget's disease of bone 2EnrichmentSQSTM1, TNFRSF11A1.74
135Motor neuron diseaseEnrichmentSOD1, TBK11.68
136Cystic fibrosisEnrichmentHMOX1, MIF, STX1A, TGFB11.67
137Immune deficiency diseaseEnrichmentCD27, RAG2, SYK1.66
138Bladder cancerEnrichmentCDKN1A, HRAS, KRAS, PIK3CA, TP531.64
139Glioma susceptibility 1EnrichmentH3C1, TP531.56
140Isolated split hand-split foot malformationEnrichmentBTRC, SEM11.56
141Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA, TP531.56
142Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB11.54
143Acute myeloid leukemia with maturationEnrichmentFLT3, NPM11.54
144HemimegalencephalyEnrichmentAKT3, PIK3CA1.54
145Herpes simplex virus encephalitisEnrichmentTBK1, TRAF31.54
146Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB1, IRF51.54
147LissencephalyEnrichmentTUBA1A, TUBA3E, TUBB2B, TUBB31.53
148Amyloidosis, primary localized cutaneous, 1EnrichmentOSMR1.47
149Cole-carpenter syndrome 1EnrichmentP4HB1.47
150Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB11.47
151MacrodactylyEnrichmentPIK3CA1.47
152Proteus syndromeEnrichmentAKT11.47
153MetachondromatosisEnrichmentPTPN111.47
154Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.47
155Paget disease of bone 3EnrichmentSQSTM11.47
156Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A21.47
157Coffin-lowry syndromeEnrichmentRPS6KA31.47
158Intellectual developmental disorder, x-linked 21EnrichmentIL1RAPL11.47
159Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA1.47
160Incontinentia pigmentiEnrichmentIKBKG1.47
161Type 1 diabetes mellitus 10EnrichmentIL2RA1.47
162Systemic lupus erythematosus 6EnrichmentITGAM1.47
163Immunodeficiency 50EnrichmentMSN1.47
164Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.47
165Immunodeficiency 35EnrichmentTYK21.47
166Immunodeficiency 68EnrichmentMYD881.47
167Noonan syndrome 4EnrichmentSOS11.47
168Caspase 8 deficiencyEnrichmentCASP81.47
169Coronary heart disease 7EnrichmentCD361.47
170Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF41.47
171Deafness, autosomal recessive 39EnrichmentHGF1.47
172Muscular dystrophy, limb-girdle, autosomal dominant 3EnrichmentHNRNPDL1.47
173Tubulointerstitial kidney disease, autosomal dominant 2EnrichmentMUC11.47
174Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB11.47
175Macroglobulinemia, waldenstrom 1EnrichmentMYD881.47
176Melorheostosis, isolatedEnrichmentMAP2K11.47
177Megalencephaly, autosomal dominantEnrichmentPIK3CA1.47
178Immunodeficiency 30EnrichmentIL12RB11.47
179Dermatitis, atopic, 4EnrichmentSOCS31.47
180Microvascular complications of diabetes 6EnrichmentSOD21.47
181Leopard syndrome 1EnrichmentPTPN111.47
182Cowden syndrome 5EnrichmentPIK3CA1.47
183Polycystic lung diseaseEnrichmentCCR21.47
184Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.47
185Noonan syndrome 9EnrichmentSOS21.47
186Even-plus syndromeEnrichmentHSPA91.47
187Fetal encasement syndromeEnrichmentCHUK1.47
188Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunityEnrichmentRAG11.47
189Blau syndromeEnrichmentNOD21.47
190Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosisEnrichmentIL1RN1.47
191Candidiasis, familial, 6EnrichmentIL17F1.47
192Frontometaphyseal dysplasia 2EnrichmentMAP3K71.47
193Anemia, sideroblastic, 4EnrichmentHSPA91.47
194Craniosynostosis and dental anomaliesEnrichmentIL11RA1.47
195Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.47
196Diarrhea 12, with microvillus atrophyEnrichmentSTX31.47
197Cerebral cavernous malformations 4EnrichmentPIK3CA1.47
198Immunodeficiency 15bEnrichmentIKBKB1.47
199Immunodeficiency 69EnrichmentIFNG1.47
200Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM11.47
201Pseudo-torch syndrome 3EnrichmentSTAT21.47
202Stuve-wiedemann syndrome 2EnrichmentIL6ST1.47
203Noonan syndrome 13EnrichmentMAPK11.47
204Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST1.47
205Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.47
206Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.47
207Nephrotic syndrome, type 26EnrichmentLAMA51.47
208Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.47
209Developmental and epileptic encephalopathy 117EnrichmentSNAP251.47
210Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM11.47
211Immunodeficiency 15aEnrichmentIKBKB1.47
212Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.47
213Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL71.47
214Immunodeficiency 131EnrichmentIRF41.47
215Knobloch syndrome 2EnrichmentPAK21.47
216Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB1.47
217Ciliary dyskinesia, primary, 51EnrichmentBRWD11.47
218Disabling pansclerotic morphea of childhoodEnrichmentSTAT41.47
219Short syndromeEnrichmentPIK3R11.47
220Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticityEnrichmentPTPN231.47
221Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW111.47
222Bone marrow failure syndrome 5EnrichmentTP531.47
223Intellectual developmental disorder with polymicrogyria and seizuresEnrichmentTCP11.47
224Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.47
225Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A21.47
226Stankiewicz-isidor syndromeEnrichmentPSMD121.47
227Okt4 epitope deficiencyEnrichmentCD41.47
228Graft-versus-host diseaseEnrichmentIL101.47
229Papilloma of choroid plexusEnrichmentTP531.47
230Basal cell carcinoma 7EnrichmentTP531.47
231Brunner syndromeEnrichmentMAOA1.47
232Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.47
233Anaplastic thyroid carcinomaEnrichmentTP531.47
234T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.47
235Adult onset demyelinating leukodystrophyEnrichmentLMNB11.47
236Systemic lupus erythematosus 11EnrichmentSTAT41.47
237Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.47
238Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.47
239Allergic rhinitisEnrichmentIL131.47
240Asthma-related traits 5EnrichmentIRAK31.47
241Houge-janssens syndrome 2EnrichmentPPP2R1A1.47
242Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.47
243Immunodeficiency 42EnrichmentRORC1.47
244Microvascular complications of diabetes 1EnrichmentVEGFA1.47
245Psoriasis 7EnrichmentIL23R1.47
246Hemifacial myohyperplasiaEnrichmentPIK3CA1.47
247Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A1.47
248Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.47
249Microvascular complications of diabetes 4EnrichmentIL1RN1.47
250Familial hemophagocytic lymphohistiocytosis 5EnrichmentSTXBP21.47
251Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.47
252Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion diseaseEnrichmentSTXBP21.47
253MelorheostosisEnrichmentMAP2K11.47
254Platelet glycoprotein iv deficiencyEnrichmentCD361.47
255Immunodeficiency 67EnrichmentIRAK41.47
256Coronary heart disease 6EnrichmentMMP31.47
257Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.47
258Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB1.47
259Immunodeficiency 31aEnrichmentSTAT11.47
260Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.47
261Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.47
262Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.47
263Immunodeficiency 29EnrichmentIL12B1.47
264Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP21.47
265Deafness, autosomal recessive 123EnrichmentSTX41.47
266Cowden syndrome 6EnrichmentAKT11.47
267Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2EnrichmentHNRNPA2B11.47
268Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.47
269Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP61.47
270Microcephaly 26, primary, autosomal dominantEnrichmentLMNB11.47
271Recombinase activating gene 1 deficiencyEnrichmentRAG11.47
272Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.47
273Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP251.47
274Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.47
275Candidiasis, familial, 9EnrichmentIL17RC1.47
276Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeEnrichmentALPK11.47
277Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.47
278Inflammatory bowel disease 17EnrichmentIL23R1.47
279Immunodeficiency 31bEnrichmentSTAT11.47
280Autoinflammation with arthritis and vasculitisEnrichmentTBK11.47
281Type 1 diabetes mellitus 22EnrichmentCCR51.47
282Choanal atresia and lymphedemaEnrichmentPTPN141.47
283Factor xiii, a subunit, deficiency ofEnrichmentF13A11.47
284Macular dystrophy, patterned, 3EnrichmentMAPKAPK31.47
285Ductal carcinoma in situEnrichmentTP531.47
286Amyloidosis, primary localized cutaneous, 2EnrichmentIL31RA1.47
287Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.47
288Heme oxygenase 1 deficiencyEnrichmentHMOX11.47
289Ovarian small cell carcinomaEnrichmentSMARCA41.47
290Immunodeficiency 22EnrichmentLCK1.47
291Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.47
292PsoriasisEnrichmentIL17RA1.47
293Cardioacrofacial dysplasia 1EnrichmentPRKACA1.47
294T-cell lymphoma, subcutaneous panniculitis-likeEnrichmentHAVCR21.47
295Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST1.47
296Hepatitis, fulminant viralEnrichmentIL18BP1.47
297Takenouchi-kosaki syndromeEnrichmentCDC421.47
298Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST1.47
299Corticobasal syndromeEnrichmentTBK11.47
300Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.47
301Bartsocas-papas syndrome 2EnrichmentCHUK1.47
302Inflammatory bowel disease 31, autosomal recessiveEnrichmentIL371.47
303Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.47
304Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.47
305Immunodeficiency 79EnrichmentCD41.47
306Pseudo-torch syndrome 2EnrichmentUSP181.47
307Encephalopathy, acute, infection-induced 8EnrichmentTBK11.47
308Retinal dystrophy and microvillus inclusion diseaseEnrichmentSTX31.47
309Bent bone dysplasia syndrome 2EnrichmentLAMA51.47
310Serum amyloid a amyloidosisEnrichmentSAA11.47
311Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.47
312Thyroid gland undifferentiated carcinomaEnrichmentTP531.47
313Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.47
314T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.47
315Recombinase activating gene 2 deficiencyEnrichmentRAG21.47
316Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK1.47
317Csf1r-related disorderEnrichmentCSF1R1.47
318Alpk1-related autoinflammatory diseaseEnrichmentALPK11.47
319Oculopharyngeal muscular dystrophy 2EnrichmentHNRNPA2B11.47
320Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.47
321HypospadiasEnrichmentPIK3CA1.47
322Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.47
323ColitisEnrichmentSYK1.47
324Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.47
3255q14.3 microdeletion syndromeEnrichmentMEF2C1.47
326Cerebral cavernous malformations 5EnrichmentMAP3K31.47
327Choroid plexus cancerEnrichmentTP531.47
328Rare venous malformationEnrichmentPIK3CA1.47
329Vegetative pyoderma gangrenosumEnrichmentPTPN61.47
330Bullous pyoderma gangrenosumEnrichmentPTPN61.47
331Diaphragmatic eventrationEnrichmentPIK3CA1.47
332Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.47
333Chronic neutrophilic leukemiaEnrichmentCSF3R1.47
334Waldenstram macroglobulinemiaEnrichmentMYD881.47
335Pustular pyoderma gangrenosumEnrichmentPTPN61.47
336AtherosclerosisEnrichmentALOX51.47
337Nocarh syndromeEnrichmentCDC421.47
338Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.47
339Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.47
340Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.47
341Pleomorphic xanthoastrocytomaEnrichmentTP531.47
342Rare combined vascular malformationEnrichmentPIK3CA1.47
343Inflammatory bowel diseaseEnrichmentIL371.47
344Cavernous lymphangiomaEnrichmentPIK3CA1.47
345Whipple diseaseEnrichmentIRF41.47
346Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.47
347T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R1.47
348Lymphedema-posterior choanal atresia syndromeEnrichmentPTPN141.47
349Mef2c-related disorderEnrichmentMEF2C1.47
350Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.47
351Classic pyoderma gangrenosumEnrichmentPTPN61.47
352Premature agingEnrichmentVIM1.47
353Combined immunodeficiency due to partial rag1 deficiencyEnrichmentRAG11.47
354Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.47
355Verrucous hemangiomaEnrichmentMAP3K31.47
356Lama5-related multisystemic syndromeEnrichmentLAMA51.47
357Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.47
358Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.47
359Eccrine angiomatous hamartomaEnrichmentPIK3CA1.47
360Macrodactyly of toeEnrichmentPIK3CA1.47
361Polyvalvular heart disease syndromeEnrichmentTAB21.47
362Malignant astrocytomaEnrichmentPTPN111.47
363Myocardial infarctionEnrichmentF13A1, LTA, PSMA6, TNFSF41.47
364Gastric cancerEnrichmentIL1B, IL1RN, IRF1, KRAS, PIK3CA, TP531.46
365Inflammatory bowel disease 1EnrichmentIL6, NOD21.46
366Ventricular septal defectEnrichmentRPS6KA3, SMARCA41.46
367Cowden syndromeEnrichmentAKT1, PIK3CA1.46
368Hepatocellular carcinomaEnrichmentCASP8, PIK3CA, TP531.44
369Limited sclerodermaEnrichmentHLA-DRB1, IRF51.38
370Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA1.38
371Leukemia, chronic lymphocyticEnrichmentCCND1, TP531.37
372Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM1, TBK11.37
373Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB1, LAMA51.37
374Presynaptic congenital myasthenic syndromesEnrichmentLAMA5, SNAP251.30
375Lynch syndromeEnrichmentFANCM, KRAS, PIK3CA1.30
376Pancreatic cancerEnrichmentFANCE, FANCG, KRAS, TP531.29
377Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B1.25
378Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS1.25
379Mitochondrial dna depletion syndrome 4aEnrichmentEDAR, RANBP21.25
380Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B1.25
381Leukemia, chronic myeloidEnrichmentKRAS, NRAS1.25
382Pilomyxoid astrocytomaEnrichmentKRAS, RAF11.25
383Follicular thyroid carcinomaEnrichmentHRAS, NRAS1.25
384Boomerang dysplasiaEnrichmentFLNB1.24
385Immune deficiency, familial variableEnrichmentTNFRSF13B1.24
386Spondyloarthropathy 1EnrichmentHLA-B1.24
387Parkinson disease 1, autosomal dominantEnrichmentSNCA1.24
388Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.24
389Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A31.24
390Oculoectodermal syndromeEnrichmentKRAS1.24
391Helicobacter pylori infectionEnrichmentIFNGR11.24
392Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.24
393Otopalatodigital syndrome, type iEnrichmentFLNA1.24
394Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA1.24
395Noonan syndrome 5EnrichmentRAF11.24
396Prostate cancer, hereditary, 1EnrichmentRNASEL1.24
397Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A1.24
398Leprosy 4EnrichmentLTA1.24
399Orofacial cleft 6EnrichmentIRF61.24
400Psoriasis 1EnrichmentHLA-C1.24
401Popliteal pterygium syndromeEnrichmentIRF61.24
402Immunodeficiency 16EnrichmentTNFRSF41.24
403Chilblain lupus 2EnrichmentSAMHD11.24
404Atelosteogenesis, type iiiEnrichmentFLNB1.24
405Cardiomyopathy, dilated, 1nnEnrichmentRAF11.24
406Atelosteogenesis, type iEnrichmentFLNB1.24
407Parkinson disease 18, autosomal dominantEnrichmentEIF4G11.24
408Immunodeficiency 39 viral infectionsEnrichmentIRF71.24
409Charcot-marie-tooth disease, axonal, type 2rEnrichmentTRIM21.24
410Melanosis, neurocutaneousEnrichmentNRAS1.24
411Multiple fibroadenomas of the breastEnrichmentPRLR1.24
412Parkinson disease 4, autosomal dominantEnrichmentSNCA1.24
413Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.24
414Noonan syndrome 6EnrichmentNRAS1.24
415Immunodeficiency 38 with basal ganglia calcificationEnrichmentISG151.24
416Encephalopathy, acute, infection-induced 7EnrichmentIRF31.24
417Immunodeficiency 43EnrichmentB2M1.24
418Singleton-merten syndrome 1EnrichmentIFIH11.24
419Immunodeficiency 32aEnrichmentIRF81.24
420Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.24
421Fanconi anemia, complementation group gEnrichmentFANCG1.24
422Immunodeficiency 27aEnrichmentIFNGR11.24
423Fetal akinesia deformation sequence 4EnrichmentNUP881.24
424Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC11.24
425Atrial fibrillation, familial, 15EnrichmentNUP1551.24
426Immunodeficiency 106 viral infectionsEnrichmentIFNAR11.24
427Mehmo syndromeEnrichmentEIF2S31.24
428Fanconi anemia, complementation group bEnrichmentFANCB1.24
429Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.24
430Oocyte/zygote/embryo maturation arrest 17EnrichmentKPNA71.24
431Spermatogenic failure 28EnrichmentFANCM1.24
432Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP541.24
433Nephrotic syndrome, type 19EnrichmentNUP1601.24
434Immunodeficiency 95EnrichmentIFIH11.24
435Lymphoproliferative syndrome 3EnrichmentCD701.24
436Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG1.24
437Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.24
438Terminal osseous dysplasiaEnrichmentFLNA1.24
439Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.24
440Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK21.24
441Premature ovarian failure 15EnrichmentFANCM1.24
442Orofacial cleft 10EnrichmentSUMO11.24
443Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.24
444Fg syndrome 2EnrichmentFLNA1.24
445Charcot-marie-tooth disease type 2rEnrichmentTRIM21.24
446Galloway-mowat syndrome 8EnrichmentNUP1331.24
447Laron syndromeEnrichmentGHR1.24
448Immunodeficiency 132aEnrichmentTRAF31.24
449Type 1 diabetes mellitus 19EnrichmentIFIH11.24
450Immunodeficiency 132bEnrichmentTRAF31.24
451Autism 19EnrichmentEIF4E1.24
452Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.24
453Tooth agenesis, selective, x-linked, 1EnrichmentEDA1.24
454HyperprolactinemiaEnrichmentPRLR1.24
455Focal segmental glomerulosclerosis and neurodevelopmental syndromeEnrichmentTRIM81.24
456Aicardi-goutieres syndrome 5EnrichmentSAMHD11.24
457Nephrotic syndrome, type 13EnrichmentNUP2051.24
458Dialysis-related amyloidosisEnrichmentB2M1.24
459Immunodeficiency 39EnrichmentIRF71.24
460Ankylosing spondylitis 1EnrichmentHLA-B1.24
461Growth hormone insensitivity, partialEnrichmentGHR1.24
462Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.24
463Immunoglobulin a deficiency 2EnrichmentTNFRSF13B1.24
464Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB11.24
465Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.24
466Immunodeficiency 27bEnrichmentIFNGR11.24
467Systemic lupus erythematosus 10EnrichmentIRF51.24
468Hair morphology 1EnrichmentEDAR1.24
469Otopalatodigital syndrome spectrum disorderEnrichmentFLNA1.24
470Immunodeficiency with hyper-igm, type 3EnrichmentCD401.24
471Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.24
472Birdshot chorioretinopathyEnrichmentHLA-A1.24
473Galloway-mowat syndrome 7EnrichmentNUP1071.24
474Neuroendocrine tumorEnrichmentCDKN1B1.24
475Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.24
476Leopard syndrome 2EnrichmentRAF11.24
477Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A21.24
478Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.24
479Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA1.24
480Nephrotic syndrome, type 12EnrichmentNUP931.24
481Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.24
482Influenza, severeEnrichmentIFITM31.24
483Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.24
484Achromatopsia 7EnrichmentATF61.24
485Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominantEnrichmentEDARADD1.24
486Colorectal cancer 3EnrichmentSMAD71.24
487Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.24
488Inflammatory bowel disease 14EnrichmentIRF51.24
489Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.24
490Nephrotic syndrome, type 11EnrichmentNUP1071.24
491Fanconi anemia, complementation group lEnrichmentFANCL1.24
492Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaEnrichmentOAS11.24
493Reactive arthritisEnrichmentHLA-B1.24
494Thrombocytopenia 6EnrichmentSRC1.24
495Singleton-merten syndrome 2EnrichmentRIGI1.24
496Irf6-related disordersEnrichmentIRF61.24
497Encephalopathy, acute, infection-induced 9EnrichmentNUP2141.24
498Autosomal dominant popliteal pterygium syndromeEnrichmentIRF61.24
499X-linked ehlers-danlos syndromeEnrichmentFLNA1.24
500Sandestig-stefanova syndromeEnrichmentNUP1881.24
501Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.24
502Ovarian dysgenesis 6EnrichmentNUP1071.24
503Immunodeficiency 53EnrichmentRELB1.24
504BerylliosisEnrichmentHLA-DPB11.24
505Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR1.24
506Dystonia 33EnrichmentEIF2AK21.24
507Nephrotic syndrome, type 18EnrichmentNUP1331.24
508Immunodeficiency 65 viral infectionsEnrichmentIRF91.24
509Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.24
510TrigonitisEnrichmentRAF11.24
511Amyloidosis, hereditary systemic 6EnrichmentB2M1.24
512Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.24
513Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.24
514Aicardi-goutieres syndrome 7EnrichmentIFIH11.24
515Spastic paraplegia 88, autosomal dominantEnrichmentKPNA31.24
516Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.24
517Immunodeficiency 125EnrichmentFLT3LG1.24
518Immunodeficiency 109 with lymphoproliferationEnrichmentTNFRSF91.24
519Congenital myopathy 26EnrichmentTUBA4A1.24
520Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.24
521Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.24
522Capillary hemangiomaEnrichmentAKT31.24
523Fanconi anemia, complementation group xEnrichmentFAAP1001.24
524Immunodeficiency 112EnrichmentMAP3K141.24
525Familial hyperprolactinemiaEnrichmentPRLR1.24
526Thrombocytopenia 10EnrichmentPTPRJ1.24
527Flnb-related disordersEnrichmentFLNB1.24
528Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.24
529Intellectual developmental disorder, autosomal dominant 75EnrichmentDHX91.24
530Congenital pulmonary airway malformationEnrichmentKRAS1.24
531Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.24
532Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.24
533Cd40 ligand deficiencyEnrichmentCD40LG1.24
534Common variable immunodeficiency phenotype due to homozygous taci deficiencyEnrichmentTNFRSF13B1.24
535Pulmonary arterial hypertension associated with connective tissue diseaseEnrichmentHLA-B1.24
536Growth retardation-mild developmental delay-chronic hepatitis syndromeEnrichmentSH2B31.24
537Familial acute necrotizing encephalopathyEnrichmentRANBP21.24
538X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA1.24
539Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaEnrichmentOAS11.24
540Phakomatosis pigmentokeratoticaEnrichmentHRAS1.24
541Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR21.24
542Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB101.24
543Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF121.24
544Adar-related hereditary spastic paraplegiaEnrichmentADAR1.24
545Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiencyEnrichmentSH2B11.24
546Trim22-related inflammatory bowel diseaseEnrichmentTRIM221.24
547Neurocutaneous melanocytosisEnrichmentNRAS1.24
548Nik deficiencyEnrichmentMAP3K141.24
549Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromeEnrichmentKPNA71.24
550Akt2-related familial partial lipodystrophyEnrichmentAKT21.24
551MeningiomaEnrichmentAKT1, PIK3CA1.23
552RhabdomyosarcomaEnrichmentCBL, HRAS, TP531.22
553Ovarian cancerEnrichmentAKT1, CDKN1B, FANCA, FANCC, FANCE, FANCG, KRAS, PIK3CA, RNASEL, TP531.20
554Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.18
555Leukocyte adhesion deficiency, type iEnrichmentITGB21.18
556Burkitt lymphomaEnrichmentMYC1.18
557Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.18
558Fibromatosis, gingival, 1EnrichmentSOS11.18
559Scoliosis, isolated 1EnrichmentMAPK71.18
560Adrenocortical carcinoma, hereditaryEnrichmentTP531.18
561Camurati-engelmann disease 1EnrichmentTGFB11.18
562Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.18
563Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.18
564Hemangiopericytoma, malignantEnrichmentSTAT61.18
565Bruck syndrome 1EnrichmentCOL1A21.18
566Robinow-sorauf syndromeEnrichmentTWIST11.18
567Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.18
568Schneckenbecken dysplasiaEnrichmentINPPL11.18
569Cervical cancerEnrichmentTP531.18
570West nile virusEnrichmentCCR51.18
571Pulmonic stenosisEnrichmentSOS11.18
572Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.18
573Histiocytoma, angiomatoid fibrousEnrichmentCREB11.18
574Crisponi/cold-induced sweating syndrome 2EnrichmentCLCF11.18
575Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.18
576Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.18
577Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK1.18
578Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.18
579Welander distal myopathyEnrichmentSQSTM11.18
580Keratosis, seborrheicEnrichmentPIK3CA1.18
581Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.18
582Diaphyseal medullary stenosis with malignant fibrous histiocytomaEnrichmentMTAP1.18
583Neutrophilia, hereditaryEnrichmentCSF3R1.18
584Roifman-chitayat syndromeEnrichmentPIK3CD1.18
585Noonan syndrome 8EnrichmentPIK3CA1.18
586Yao syndromeEnrichmentNOD21.18
587Lymphoma, hodgkin, classicEnrichmentTP531.18
588Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.18
589Immunodeficiency, common variable, 10EnrichmentNFKB21.18
590Thrombocythemia 3EnrichmentJAK21.18
591Immunodeficiency 51EnrichmentIL17RA1.18
592Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentCSF3R1.18
593Houge-janssens syndrome 1EnrichmentPPP2R5D1.18
594Loeys-dietz syndrome 3EnrichmentSMAD31.18
595Diamond-blackfan anemia 12EnrichmentNKIRAS11.18
596Psoriasis 14, pustularEnrichmentIL36RN1.18
597Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.18
598Sweeney-cox syndromeEnrichmentTWIST11.18
599Periventricular nodular heterotopia 8EnrichmentARF11.18
600Birk-aharoni syndromeEnrichmentPSMC11.18
601Werner syndromeEnrichmentPTPN111.18
602Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A21.18
603Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.18
604Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.18
605Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.18
606Immunodeficiency 56EnrichmentIL21R1.18
607Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.18
608Rela fusion-positive ependymomaEnrichmentRELA1.18
609Recessive dystrophic epidermolysis bullosaEnrichmentMMP11.18
610Agammaglobulinemia 4EnrichmentBLNK1.18
611Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.18
612Transaldolase deficiencyEnrichmentTALDO11.18
613Cataract 30EnrichmentVIM1.18
614Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentTBK11.18
615Camurati-engelmann diseaseEnrichmentTGFB11.18
616Congenital fibrosarcomaEnrichmentTP531.18
617Metaphyseal anadysplasia 2EnrichmentMMP91.18
618Inflammatory bowel disease 28EnrichmentIL10RA1.18
619Li-fraumeni syndrome 1EnrichmentTP531.18
620Severe congenital neutropenia 7EnrichmentCSF3R1.18
621SarcomaEnrichmentTP531.18
622Congenital dyserythropoietic anemiaEnrichmentIRAK41.18
623Immunodeficiency 104, severe combinedEnrichmentIL7R1.18
624Fibrolamellar carcinomaEnrichmentPRKACA1.18
625Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.18
626Multiple sclerosis 3EnrichmentIL7R1.18
627Congenital heart defects, multiple types, 2EnrichmentTAB21.18
628Spastic tetraplegia and axial hypotonia, progressiveEnrichmentSOD11.18
629Otosclerosis 12EnrichmentSMARCA41.18
630Mitochondrial complex iv deficiency, nuclear type 12EnrichmentSTXBP21.18
631Coffin-siris syndrome 4EnrichmentSMARCA41.18
632Cervix carcinomaEnrichmentTP531.18
633Hodgkin's lymphomaEnrichmentTP531.18
634Autosomal dominant primary microcephalyEnrichmentLMNB11.18
635Cold-induced sweating syndrome 2EnrichmentCLCF11.18
636B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.18
637Paget's disease of boneEnrichmentSQSTM11.18
638Cold-induced sweating syndrome including crisponi syndromeEnrichmentCRLF11.18
639Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.18
640AcromegalyEnrichmentAIP1.18
641Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.18
642Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA1.18
643PolycythemiaEnrichmentJAK21.18
64417q24.2 microdeletion syndromeEnrichmentPSMD121.18
645Autosomal recessive sideroblastic anemiaEnrichmentHSPA91.18
646Houge-janssens syndrome 3EnrichmentPPP2CA1.18
647Metaphyseal anadysplasiaEnrichmentMMP91.18
648Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A21.18
649BronchiectasisEnrichmentBRWD11.18
650Crohn's diseaseEnrichmentNOD21.18
651Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.18
652ArthritisEnrichmentSYK1.18
653Hypereosinophilic syndromeEnrichmentJAK21.18
654Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB21.18
655Dentinogenesis imperfectaEnrichmentCOL1A21.18
656Primary mediastinal large b-cell lymphomaEnrichmentBCL61.18
657Non-syndromic sagittal craniosynostosisEnrichmentTWIST11.18
658Common variable immunodeficiency 12EnrichmentNFKB11.18
659Factor xiii deficiencyEnrichmentF13A11.18
660Null pituitary adenomaEnrichmentAIP1.18
661Diaphyseal medullary stenosis-bone malignancy syndromeEnrichmentMTAP1.18
662Familial isolated pituitary adenomaEnrichmentAIP1.18
663Silent pituitary adenomaEnrichmentAIP1.18
664Pleomorphic rhabdomyosarcomaEnrichmentTP531.18
665Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.18
666Submucosal cleft palateEnrichmentUBB1.18
667Cleft hard palateEnrichmentUBB1.18
668GigantismEnrichmentAIP1.18
669Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM11.18
670Aortic valve disease 1EnrichmentSOS1, TAB21.16
671Alzheimer's diseaseEnrichmentAPP, CSF1R1.16
672Nk-cell enteropathyEnrichmentJAK3, PIK3CB1.16
673Cleft palate, isolatedEnrichmentFLNA, IRF6, SMARCA41.16
674Fanconi anemia, complementation group cEnrichmentFANCC, FLNA1.14
675Lymphoma, non-hodgkin, familialEnrichmentB2M, TP531.14
676Mitochondrial dna depletion syndrome 4bEnrichmentEDAR, RANBP21.14
67746,xy partial gonadal dysgenesisEnrichmentSOS1, VAMP71.11
678Severe covid-19EnrichmentHLA-A, HLA-DQB1, IL10RB, JAK31.09
679Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS, TPR1.09
680Type 2 diabetes mellitusEnrichmentAKT2, IL6, IRS1, IRS2, PTPN11.05
681Tooth agenesis, selective, 1EnrichmentEDA, EDA2R1.05
682Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R, FLT31.05
683Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B1.05
684Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.01
685Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.01
686Craniosynostosis 1EnrichmentTWIST11.01
687Pelvic organ prolapseEnrichmentTAB21.01
688Immune thrombocytopeniaEnrichmentSOCS11.01
689OpsismodysplasiaEnrichmentINPPL11.01
690Polycythemia veraEnrichmentJAK21.01
691Pompe disease, infantile-onsetEnrichmentPIK3CA1.01
692Mycosis fungoidesEnrichmentTNFRSF1B1.01
693Tuberous sclerosis 1EnrichmentIFNG1.01
694Uvula, bifidEnrichmentUBB1.01
695Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.01
696Severe combined immunodeficiency, x-linkedEnrichmentIL2RG1.01
697Glomerulopathy with fibronectin deposits 2EnrichmentFN11.01
698Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC1.01
699Nuchal bleb, familialEnrichmentSOS11.01
700Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.01
701Osteogenic sarcomaEnrichmentTP531.01
702Combined immunodeficiency, x-linkedEnrichmentIL2RG1.01
703Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB11.01
704Cleft soft palateEnrichmentUBB1.01
705Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB11.01
706Cone-rod dystrophy 12EnrichmentCRLF11.01
707Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.01
708Tuberous sclerosis 2EnrichmentIFNG1.01
709Pituitary adenoma 1, multiple typesEnrichmentAIP1.01
710Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.01
711Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA2B11.01
712Microvillus inclusion diseaseEnrichmentSTX31.01
713Hyper ige syndromeEnrichmentSTAT31.01
714Atypical teratoid rhabdoid tumorEnrichmentTP531.01
715Inflammatory bowel disease 25EnrichmentIL10RB1.01
716Anaplastic astrocytomaEnrichmentTP531.01
717Squamous cell carcinomaEnrichmentTP531.01
718AdenocarcinomaEnrichmentTP531.01
719Intraocular pressure quantitative trait locusEnrichmentZEB11.01
720Immunodeficiency, common variable, 11EnrichmentIL211.01
721End stage renal diseaseEnrichmentGATA31.01
722Bone osteosarcomaEnrichmentTP531.01
723Growth hormone secreting pituitary adenomaEnrichmentAIP1.01
724Aip familial isolated pituitary adenomasEnrichmentAIP1.01
725High bone mass osteogenesis imperfectaEnrichmentCOL1A21.01
726Cole-carpenter syndromeEnrichmentP4HB1.01
727Aggressive periodontitisEnrichmentFPR11.01
728Tricuspid valve insufficiencyEnrichmentPTPN111.01
729EnchondromatosisEnrichmentHIF1A1.01
730Thyroid hemiagenesisEnrichmentPSMD31.01
731KeratoacanthomaEnrichmentPIK3CA1.01
732Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC1.01
733Saczary syndromeEnrichmentTNFRSF1B1.01
734GliosarcomaEnrichmentNFKBIA, TP531.00
735Hereditary breast carcinomaEnrichmentAKT1, FANCM, KRAS, PIK3CA, TP530.98
736Galloway-mowat syndromeEnrichmentNUP107, NUP1330.96
737PolymicrogyriaEnrichmentAKT3, PSMC30.96
738Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB10.96
739Alzheimer disease, familial, 1EnrichmentAPP, CSF1R0.96
740Giant cell glioblastomaEnrichmentNFKBIA, TP530.96
741Familial expansile osteolysisEnrichmentTNFRSF11A0.95
742Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A0.95
743Costello syndromeEnrichmentHRAS0.95
744Immunodeficiency 32bEnrichmentIRF80.95
745Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK30.95
746Immunodeficiency, common variable, 2EnrichmentTNFRSF13B0.95
747Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA0.95
748Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR0.95
749Striatonigral degeneration, infantileEnrichmentNUP620.95
750Otopalatodigital syndrome, type iiEnrichmentFLNA0.95
751Melnick-needles syndromeEnrichmentFLNA0.95
752Opitz gbbb syndromeEnrichmentMID10.95
753Frontometaphyseal dysplasia 1EnrichmentFLNA0.95
754Vacterl association, x-linked, with or without hydrocephalusEnrichmentFANCL0.95
755Immunodeficiency with hyper-igm, type 2EnrichmentTNFRSF13B0.95
756Dyschromatosis symmetrica hereditariaEnrichmentADAR0.95
757Encephalocraniocutaneous lipomatosisEnrichmentKRAS0.95
758Creutzfeldt-jakob diseaseEnrichmentHLA-DQB10.95
759Chromosome 16p11.2 deletion syndrome, 220-kbEnrichmentSH2B10.95
760Immunodeficiency 45EnrichmentIFNAR20.95
761Growth hormone deficiency, isolated partialEnrichmentGHR0.95
762Sarcoidosis 1EnrichmentHLA-DRB10.95
763Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC30.95
764Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A0.95
765Osteopetrosis, autosomal recessive 2EnrichmentTNFSF110.95
766Multiple endocrine neoplasia, type ivEnrichmentCDKN1B0.95
767Aicardi-goutieres syndrome 6EnrichmentADAR0.95
768Dystonia 16EnrichmentPRKRA0.95
769Cardiac valvular dysplasia, x-linkedEnrichmentFLNA0.95
770Nephrotic syndrome, type 17EnrichmentNUP850.95
771Keratoconus 9EnrichmentTUBA3D0.95
772Kowarski syndromeEnrichmentGH10.95
773Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A0.95
774Parkinson disease 15, autosomal recessive early-onsetEnrichmentSNCA0.95
775Intellectual developmental disorder, x-linked, syndromic, pilorge typeEnrichmentFANCB0.95
776Stevens-johnson syndromeEnrichmentHLA-B0.95
777Lissencephaly 3EnrichmentTUBA1A0.95
778Fanconi anemia, complementation group eEnrichmentFANCE0.95
779Immunodeficiency, common variable, 4EnrichmentTNFRSF13C0.95
780Senior-loken syndrome 7EnrichmentAKT30.95
781Spastic paraplegia 37, autosomal dominantEnrichmentKPNA30.95
782Chromosome 16p11.2 deletion syndrome, 593-kbEnrichmentSH2B10.95
783Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM170.95
784Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB30.95
785Bardet-biedl syndrome 16EnrichmentAKT30.95
786Mid1-related opitz g/bbb syndromeEnrichmentMID10.95
787Torsion dystonia 4EnrichmentTUBB4A0.95
788Basal ganglia diseaseEnrichmentIFIH10.95
789Short stature due to growth hormone qualitative anomalyEnrichmentGH10.95
790Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2140.95
791Vacterl with hydrocephalusEnrichmentFANCB0.95
792Immunodeficiency 117EnrichmentIRF10.95
793Van der woude syndromeEnrichmentIRF60.95
794Symmetrical dyschromatosis of extremitiesEnrichmentADAR0.95
795Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT30.95
796Acute necrotizing encephalopathy of childhoodEnrichmentRANBP20.95
797Continuous spikes and waves during sleepEnrichmentTUBA1A0.95
798Wooly hair nevusEnrichmentHRAS0.95
799Kaposi sarcomaEnrichmentIL60.89
800Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A20.89
801Small cell cancer of the lungEnrichmentTP530.89
802Anemia, autoimmune hemolyticEnrichmentSOCS10.89
803Microphthalmia, syndromic 3EnrichmentSOX20.89
804Thyroid cancer, nonmedullary, 1EnrichmentTP530.89
805Budd-chiari syndromeEnrichmentJAK20.89
806Developmental and epileptic encephalopathy 2EnrichmentSNAP250.89
807Infantile sialic acid storage diseaseEnrichmentRAG20.89
808Saethre-chotzen syndromeEnrichmentTWIST10.89
809Salla diseaseEnrichmentRAG20.89
810Myopathy, autophagic vacuolar, infantile-onsetEnrichmentHNRNPA2B10.89
811Schaaf-yang syndromeEnrichmentNDN0.89
812Congenital generalized lipodystrophyEnrichmentFOS0.89
813Mantle cell lymphomaEnrichmentCCND10.89
814Cold-induced sweating syndrome 1EnrichmentCRLF10.89
815Cerebrovascular diseaseEnrichmentPIK3CA0.89
816Embryonal rhabdomyosarcomaEnrichmentTP530.89
817Aortic aneurysmEnrichmentSMAD30.89
818ProlactinomaEnrichmentAIP0.89
819Blood platelet diseaseEnrichmentCD360.89
820Corneal dystrophyEnrichmentZEB10.89
821Familial cerebral cavernous malformationsEnrichmentPIK3CA0.89
822Adenosine deaminase deficiencyEnrichmentJAK30.89
823Knobloch syndromeEnrichmentPAK20.89
824Inherited epidermodysplasia verruciformisEnrichmentIL70.89
825Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A20.89
826Non-syndromic bicoronal craniosynostosisEnrichmentTWIST10.89
827Gingival fibromatosisEnrichmentSOS10.89
828Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS20.89
829Combined immunodeficiencyEnrichmentCD27, IL2RG0.89
830Combined t cell and b cell immunodeficiencyEnrichmentCD27, IL2RG0.89
831Combined t and b cell immunodeficiencyEnrichmentCD27, IL2RG0.89
832Ehlers-danlos syndromeEnrichmentCOL1A2, SMAD30.88
833Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT3, MYC, NUP2140.85
834Capillary malformations, congenitalEnrichmentPIK3CA0.80
835Enchondromatosis, multiple, ollier typeEnrichmentHIF1A0.80
836Von hippel-lindau syndromeEnrichmentCCND10.80
837Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.80
838Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentSTXBP20.80
839Knobloch syndrome 1EnrichmentPAK20.80
840Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentSOD10.80
841Fuchs' endothelial dystrophyEnrichmentZEB10.80
842Acute megakaryocytic leukemiaEnrichmentTP530.80
843Aggressive systemic mastocytosisEnrichmentCBL0.80
844Free sialic acid storage disorderEnrichmentRAG20.80
845Idiopathic aplastic anemiaEnrichmentIFNG0.80
846Prune belly syndromeEnrichmentFLNA0.79
847Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB10.79
848Van der woude syndrome 1EnrichmentIRF60.79
849Larsen syndromeEnrichmentFLNB0.79
850RetinoblastomaEnrichmentFANCM0.79
851Arterial tortuosity syndromeEnrichmentFLNA0.79
852Thrombocythemia 1EnrichmentSH2B30.79
853DysosteosclerosisEnrichmentTNFRSF11A0.79
854Periventricular nodular heterotopia 1EnrichmentFLNA0.79
855Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG0.79
856Menkes diseaseEnrichmentEIF2AK30.79
857Tooth agenesis, selective, 2EnrichmentEDA0.79
858Spondylocarpotarsal synostosis syndromeEnrichmentFLNB0.79
859Psoriatic arthritisEnrichmentLTA0.79
860Heparin cofactor ii deficiencyEnrichmentEIF4G30.79
861Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A0.79
862Spondyloepimetaphyseal dysplasia, genevieve typeEnrichmentTRIM140.79
863Congenital short bowel syndromeEnrichmentFLNA0.79
864Immunodeficiency 28EnrichmentIFNGR20.79
865Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB80.79
866Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A0.79
867Fanconi anemia, complementation group fEnrichmentFANCF0.79
868Torsion dystonia 1EnrichmentEIF2AK20.79
869Isolated growth hormone deficiency, type ibEnrichmentGH10.79
870SpermatocytomaEnrichmentHRAS0.79
871Familial chilblain lupusEnrichmentSAMHD10.79
872Neonatal inflammatory skin and bowel diseaseEnrichmentADAM170.79
873Mixed phenotype acute leukemia with tEnrichmentFLT30.79
874Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB10.79
875Hypercholesterolemia, familial, 1EnrichmentGHR, SMARCA40.77
876Cerebral palsyEnrichmentSAMHD1, SMARCA4, TUBA1A, TUBB4A0.74
877Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A20.73
878Developmental dysplasia of the hip 1EnrichmentPSMC30.73
879Klippel-trenaunay-weber syndromeEnrichmentPIK3CA0.73
880Li-fraumeni syndromeEnrichmentTP530.73
881Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB10.73
882Cowden syndrome 1EnrichmentPIK3CA0.73
883Hemihyperplasia, isolatedEnrichmentPIK3CA0.73
884Type 1 diabetes mellitusEnrichmentIL60.73
885Adrenocortical carcinomaEnrichmentTP530.73
886Classic ehlers-danlos syndromeEnrichmentCOL1A20.73
887OsteoporosisEnrichmentCOL1A2, SRC0.72
888Lung cancer susceptibility 3EnrichmentKRAS, TP530.72
889Periventricular nodular heterotopiaEnrichmentARF1, FLNA0.72
890Pituitary stalk interruption syndromeEnrichmentFANCA, FANCG0.72
891Isolated growth hormone deficiency, type iiEnrichmentGH10.68
892Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS0.68
893Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.68
894Autoimmune lymphoproliferative syndromeEnrichmentFASLG0.68
895Lymphoproliferative syndrome 2EnrichmentCD270.68
896Chondrocalcinosis 2EnrichmentTNFRSF11B0.68
897Chronic myelomonocytic leukemiaEnrichmentFLT30.68
898Pilocytic astrocytomaEnrichmentKRAS0.68
899Epidermolytic nevusEnrichmentHRAS0.68
900Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT30.68
901Autosomal recessive osteopetrosisEnrichmentTNFSF110.68
9022p21 microdeletion syndromeEnrichmentPPM1B0.68
903Vacterl associationEnrichmentFANCL0.68
904Immunodeficiency by defective expression of mhc class iEnrichmentB2M0.68
905Primary hyperparathyroidismEnrichmentCDKN1B0.68
906Cleft lip and alveolusEnrichmentIRF60.68
907Familial hypercholesterolemiaEnrichmentGHR, SMARCA40.68
908Esophageal cancerEnrichmentTP530.67
909Prader-willi syndromeEnrichmentNDN0.67
910Osteogenesis imperfecta, type iiEnrichmentCOL1A20.67
911Thrombophilia due to thrombin defectEnrichmentF13A10.67
912Squamous cell carcinoma, head and neckEnrichmentTP530.67
913Multiple enchondromatosis, maffucci typeEnrichmentHIF1A0.67
914Alzheimer's disease 1EnrichmentAPP0.67
915Focal epilepsyEnrichmentSNAP250.67
916Overgrowth syndromeEnrichmentPIK3R10.67
917Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP0.67
918Prostate cancerEnrichmentPIK3CA, RNASEL, TP530.64
919Complex neurodevelopmental disorderEnrichmentFBXW11, PPP2CA, PSMD12, PTPN23, RALA, RORA0.62
920Gastroesophageal refluxEnrichmentRPS6KA30.62
921Orthostatic intoleranceEnrichmentRPS6KA30.62
922Lennox-gastaut syndromeEnrichmentMAPK100.62
923Severe congenital neutropeniaEnrichmentCSF3R0.62
924NeuroblastomaEnrichmentSMARCA40.62
925Permanent neonatal diabetes mellitusEnrichmentSTAT30.62
926Primary ovarian insufficiencyEnrichmentBRWD1, FANCA, JAK2, PRLR, SH2B10.61
927Dandy-walker syndromeEnrichmentMID1, TUBA1A0.60
928Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC30.59
929Amyloidosis, hereditary systemic 2EnrichmentB2M0.59
930Dementia, lewy bodyEnrichmentSNCA0.59
931Vater/vacterl associationEnrichmentFANCL0.59
932Major depressive disorderEnrichmentFKBP50.59
933Spastic diplegiaEnrichmentIFIH10.59
934Cleft upper lipEnrichmentIRF60.59
935Female infertility due to oocyte meiotic arrestEnrichmentTUBB80.59
936Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT30.59
937Non-immune hydrops fetalisEnrichmentHRAS, KRAS, PTPN110.58
938Ellis-van creveld syndromeEnrichmentPRKACA0.58
939Coronary heart disease 5EnrichmentIKBKG0.58
940Leukemia, acute lymphoblastic 3EnrichmentJAK20.58
941Loeys-dietz syndromeEnrichmentSMAD30.58
942Progressive non-fluent aphasiaEnrichmentTBK10.58
943Primary hyperaldosteronismEnrichmentTP530.58
944Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.58
945Behavioral variant of frontotemporal dementiaEnrichmentSQSTM10.58
946Amyotrophic lateral sclerosis 1EnrichmentSOD10.54
947Cataract 30, multiple typesEnrichmentVIM0.54
948Ciliary dyskinesia, primary, 3EnrichmentNFKB10.54
949Aplastic anemiaEnrichmentIFNG0.54
950Familial colorectal cancerEnrichmentTP530.54
951Primary bone dysplasiaEnrichmentCOL1A20.54
952Arteriovenous malformations of the brainEnrichmentIL6, KRAS0.53
953Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.53
954Inflammatory myofibroblastic tumorEnrichmentRANBP20.53
955Early myoclonic encephalopathyEnrichmentTUBA1A0.53
956Migraine with or without aura 1EnrichmentTAB20.50
957Pectus excavatumEnrichmentPTPN110.50
958Frontotemporal dementia 1EnrichmentCSF1R0.50
959Myelodysplastic syndromeEnrichmentTP530.50
960NanophthalmosEnrichmentSOX20.50
961Atrial heart septal defectEnrichmentSMARCA40.50
962OsteochondrodysplasiaEnrichmentCOL1A20.50
963IchthyosisEnrichmentIL2RB0.50
964Interatrial communicationEnrichmentSMARCA40.50
965CakutEnrichmentGATA3, LIFR0.50
966Focal segmental glomerulosclerosisEnrichmentNUP93, TRIM80.50
967EpicanthusEnrichmentPTPN110.47
968Septooptic dysplasiaEnrichmentSOX20.47
969Congenital long qt syndromeEnrichmentPTPN110.47
970MegacolonEnrichmentAKT30.47
971HepatoblastomaEnrichmentFANCA, TP530.47
972Non-syndromic x-linked intellectual disabilityEnrichmentIL1RAPL1, RPS6KA30.47
973Inherited cancer-predisposing syndromeEnrichmentAIP, CDKN1B, FANCA, FANCC, FANCM, PTPN11, SH2B3, SMARCA4, TP530.46
974Osteogenesis imperfecta, type ivEnrichmentCOL1A20.45
975Neural tube defectsEnrichmentITGB10.45
976Pulmonary disease, chronic obstructiveEnrichmentHMOX10.45
977Stereotypic movement disorderEnrichmentSNAP250.45
978Isolated growth hormone deficiency, type iaEnrichmentGH10.42
979CryptorchidismEnrichmentTUBA1A0.42
980Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.42
981Hereditary breast ovarian cancer syndromeEnrichmentFANCM, KRAS, LCP1, TP530.41
982Coffin-siris syndrome 1EnrichmentSMARCA40.40
983Osteogenesis imperfecta, type iiiEnrichmentCOL1A20.40
984Parkinson disease, late-onsetEnrichmentEIF4G1, SNCA0.40
985Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.39
986Mhc class ii deficiencyEnrichmentCIITA0.39
987Nephrotic syndromeEnrichmentFN1, LAMA50.37
988Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN110.35
989AchromatopsiaEnrichmentATF60.35
990Heart, malformation ofEnrichmentMAPK10.34
991Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP60.34
992Mhc class ii deficiency 1EnrichmentCIITA0.32
993Leukemia, acute lymphoblasticEnrichmentFLT30.32
994Sensorineural hearing lossEnrichmentHGF, STX40.32
995Williams-beuren syndromeEnrichmentSTX1A0.31
996Macs syndromeEnrichmentSOX20.31
997CraniosynostosisEnrichmentIL11RA0.31
998Congenital hypothyroidismEnrichmentTUBB10.30
999Early-onset parkinson's diseaseEnrichmentSNCA0.30
100046 xx gonadal dysgenesisEnrichmentNUP1070.30
1001Endometrial cancerEnrichmentPIK3CA0.29
1002ThrombocytopeniaEnrichmentPTPN11, SRC, TUBB10.28
1003HypertelorismEnrichmentPIK3CA, RPS6KA30.28
1004Mitochondrial complex iv deficiency, nuclear type 1EnrichmentSTXBP20.28
1005MicrophthalmiaEnrichmentSOX20.28
1006Protein-deficiency anemiaEnrichmentNRAS0.27
1007Diamond-blackfan anemia 1EnrichmentTP530.26
1008Brittle bone disorderEnrichmentCOL1A20.26
1009Kallmann syndromeEnrichmentDUSP60.26
1010Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, YWHAZ0.26
1011Connective tissue diseaseEnrichmentFLNB, SMAD30.26
1012ScoliosisEnrichmentPTPN110.25
1013MicrocephalyEnrichmentCAMK2B, MAPK1, NUP188, PSMC3, PTPN11, SNAP25, TUBB4A0.25
1014Seckel syndromeEnrichmentNUP850.25
1015Cleft lip/palateEnrichmentIRF60.25
1016Corpus callosum, agenesis ofEnrichmentTUBA1A0.23
1017Isolated corpus callosum agenesisEnrichmentTUBA1A0.23
1018Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A0.23
1019Male infertility with spermatogenesis disorderEnrichmentFANCM0.23
1020StrabismusEnrichmentPTPN110.22
1021Isolated congenital microcephalyEnrichmentTUBA3E0.21
1022Fetal akinesia deformation sequence 1EnrichmentNUP88, TUBA1A0.20
1023Long qt syndrome 1EnrichmentPTPN110.19
1024Visceral heterotaxy 5EnrichmentBRWD10.18
1025Early infantile developmental and epileptic encephalopathyEnrichmentTRIM80.18
1026Esophageal atresia/tracheoesophageal fistulaEnrichmentIRF80.17
1027Dyskeratosis congenitaEnrichmentNPM10.17
1028Male infertilityEnrichmentBRWD10.16
1029AzoospermiaEnrichmentFANCM0.16
1030Developmental and epileptic encephalopathyEnrichmentSNAP250.15
1031Diamond-blackfan anemiaEnrichmentTP530.15
1032Autism spectrum disorderEnrichmentMAP2K1, MEF2C, PTPN110.15
1033Optic atrophy plus syndromeEnrichmentSNAP25, TUBB60.14
1034Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFLNA, SMAD30.14
1035Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.12
1036Familial atrial fibrillationEnrichmentNUP1550.12
1037Hereditary spastic paraplegiaEnrichmentPTPN230.12
1038Hypertrophic cardiomyopathyEnrichmentPTPN110.11
1039Auditory neuropathyEnrichmentTUBB4A0.11
1040Body mass index quantitative trait locus 11EnrichmentPOMC0.09
1041Hirschsprung disease 1EnrichmentNUP980.09
1042Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFANCM, PTPN110.08
1043Primary autosomal recessive microcephalyEnrichmentNUP370.07
1044Familial hypertrophic cardiomyopathyEnrichmentRAF10.07
1045NephronophthisisEnrichmentPIAS10.07
1046Congenital nervous system abnormalityEnrichmentAAAS, CAMK2B, TUBA1A, TUBB4A0.06
1047Nervous system diseaseEnrichmentAAAS, CAMK2B, TUBA1A, TUBB4A0.06
1048Left ventricular noncompactionEnrichmentRAF10.06
1049DystoniaEnrichmentCAMK2B0.06
1050Charcot-marie-tooth diseaseEnrichmentDHX90.04
1051AutismEnrichmentSTX1A0.04
1052West syndromeEnrichmentTUBA1A0.03
1053Dilated cardiomyopathyEnrichmentTAB20.03
1054Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF0.02
1055Spastic ataxiaEnrichmentTUBB30.02
1056Familial isolated dilated cardiomyopathyEnrichmentRAF10.02
1057Autosomal recessive non-syndromic intellectual disabilityEnrichmentTPR0.01
1058Cone-rod dystrophy 2EnrichmentATF60.01
1059Leber plus diseaseEnrichmentTUBB4B0.00
1060Hereditary retinal dystrophyEnrichmentATF60.00
1061Fundus dystrophyEnrichmentATF60.00

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