GPCR Pathway

Pathway network for the GPCR Pathway SuperPath

Sources:
  • QIAGEN

Pathways in the GPCR Pathway SuperPath

#NameSourceGenes
1GPCR PathwayQIAGEN
(see all 336) (see less)
2Breast Cancer Regulation by Stathmin1QIAGEN
(see all 399) (see less)
3Estrogen PathwayQIAGEN
(see all 325) (see less)
4NFAT in Immune ResponseQIAGEN
(see all 300) (see less)
5Pancreatic AdenocarcinomaQIAGEN
(see all 293) (see less)
6Ras PathwayQIAGEN
(see all 284) (see less)
7Paxillin InteractionsQIAGEN
8P2Y Receptor SignalingQIAGEN

Gene overlap in member pathways for GPCR Pathway SuperPath

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

Disorders associated with GPCR Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS10.94
3Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.74
4Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, FGF10, KRAS, RB1, ROS1, TP539.96
5Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF19.90
6Bladder cancerEnrichmentBRCA2, CDKN1A, CDKN2A, EGFR, ERBB2, ERBB3, FGFR3, KRAS, RB1, TP539.59
7Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF18.48
8Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR28.11
9Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF18.06
10Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.83
11Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.83
12Differentiated thyroid carcinomaEnrichmentALK, BRAF, HRAS, KRAS, NRAS, NTRK1, NTRK37.63
13Lung squamous cell carcinomaEnrichmentALK, CDKN2A, EGFR, FGFR3, KRAS7.57
14Ovarian cancerEnrichmentAKT1, ALK, BRCA2, CDKN1B, CDKN2A, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, RB1, TP537.47
15Colorectal cancerEnrichmentAKT1, BRAF, BRCA2, CCND1, ERBB2, FGFR2, FGFR3, IGF2, MET, PIK3R1, SMAD4, SRC, TP537.38
16Lip and oral cavity carcinomaEnrichmentBRAF, CDKN2A, EGFR, KIT, RB1, TP537.10
17Myeloma, multipleEnrichmentBRAF, BRCA2, CCND1, CDKN2C, FGFR3, FLT3, KRAS, MST1R, PIK3R2, TP536.55
18Arteriovenous malformationEnrichmentEPHB4, HRAS, MAP2K1, RASA1, TEK6.34
19Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS6.30
20Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, MAP2K1, RASA1, TEK6.05
21Lung cancerEnrichmentALK, BRAF, EGFR, ERBB2, KRAS, MET5.91
22Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.87
23Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.87
24Gastric cancerEnrichmentBRCA2, CDK4, CDKN2A, ERBB2, FGFR2, KRAS, SMAD4, TP535.49
25Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR25.41
26Testicular germ cell tumorEnrichmentBCL10, FGFR3, KIT, KITLG5.27
27Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.27
28Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, KRAS, MAP2K1, RASA15.20
29Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS15.20
30Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, IKBKB, LCK, ZAP705.20
31Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B, CDKN2B, CDKN2C5.15
32Gallbladder cancerEnrichmentBRAF, KRAS, SMAD4, TP535.15
33Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT35.00
34Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR25.00
35T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E4.97
36Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.88
37Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, ROS1, TP534.64
38Inherited cancer-predisposing syndromeEnrichmentALK, BRCA2, CDK4, CDKN1B, CDKN2A, EGFR, KIT, MET, PDGFRA, RB1, SMAD4, TP534.54
39Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, TIMP34.45
40Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND2, PIK3R24.41
41Marfan syndromeEnrichmentLTBP2, TGFB2, TGFBR1, TGFBR24.39
42Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, CD79A, CD79B, PIK3R14.35
43Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS4.34
44Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS4.34
45Ventricular septal defect 1EnrichmentBMP2, BMP7, GATA43.98
46Lymphatic malformation 1EnrichmentEPHB4, FLT43.91
47Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT43.91
48Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.91
49Pfeiffer syndromeEnrichmentFGFR1, FGFR23.91
50Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.91
51Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.91
52Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.91
53Hereditary lymphedema iEnrichmentEPHB4, FLT43.91
54Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB33.89
55Nk-cell enteropathyEnrichmentAXL, ERBB4, IGF1R, JAK33.88
56Pancreatic cancerEnrichmentBRCA2, CDKN2A, KRAS, SMAD4, TP533.77
57Hemangioma, capillary infantileEnrichmentFLT4, KDR, RASA13.76
58Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.72
59Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.72
60Li-fraumeni syndromeEnrichmentCDKN2A, MDM2, TP533.72
61Breast adenocarcinomaEnrichmentAKT1, KRAS, TP533.72
62Non-immune hydrops fetalisEnrichmentACTA1, EPHB4, FLT4, HRAS, KRAS3.58
63Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS3.56
64Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.51
65Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH13.51
66GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, TP533.50
67Essential thrombocythemiaEnrichmentJAK2, THPO, TP533.48
68Hereditary hemorrhagic telangiectasiaEnrichmentCCNH, GDF2, SMAD43.48
69B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, FLT3, TP533.48
70Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.45
71Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.45
72Crouzon syndromeEnrichmentFGFR2, FGFR33.44
73Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.44
74Testicular germ cell cancerEnrichmentFGFR3, KIT3.44
75SpermatocytomaEnrichmentFGFR3, HRAS3.44
76Melanoma, cutaneous malignant 1EnrichmentBRAF, CDK4, CDKN2A, CDKN2B3.39
77Pulmonic stenosisEnrichmentBRAF, SOS13.36
78Cervical cancerEnrichmentFGFR3, TP533.33
79Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.33
80Cervix carcinomaEnrichmentFGFR3, TP533.33
81Metaphyseal anadysplasiaEnrichmentMMP13, MMP93.33
82Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB13.31
83Angioma, tuftedEnrichmentGNA14, KDR3.31
84Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB13.31
85Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB13.31
86Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.26
87Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B3.24
88Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.21
89Diffuse large b-cell lymphomaEnrichmentBRAF, BRCA2, STAT3, TP533.19
90Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.14
91Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.14
92Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.14
93Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.14
94Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT3.14
95GliomaEnrichmentFGFR2, NTRK33.14
96Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A3.08
97Leukemia, acute myeloidEnrichmentFLT3, KIT, KRAS, NRAS3.01
98Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB32.98
99Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.92
100Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.92
101HoloprosencephalyEnrichmentFGF8, FGFR12.92
102Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.92
103Hydrops fetalis, nonimmuneEnrichmentACTA1, EPHB4, FLT4, HRAS2.87
104Osteogenic sarcomaEnrichmentRB1, TP532.86
105Dedifferentiated liposarcomaEnrichmentCDK4, MDM22.86
106Squamous cell carcinomaEnrichmentRB1, TP532.86
107Bone osteosarcomaEnrichmentRB1, TP532.86
108Well-differentiated liposarcomaEnrichmentCDK4, MDM22.86
109Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R12.84
110Anastomosing haemangiomaEnrichmentGNA11, GNA142.84
111Thyroid carcinoma, familial medullaryEnrichmentESR2, NTRK12.77
112Tethered spinal cord syndromeEnrichmentBRAF, CREBBP2.77
113Holoprosencephaly 1EnrichmentFGF8, FGFR12.75
11446,xy disorder of sex developmentEnrichmentFGFR3, INSR2.75
115Testicular cancerEnrichmentBCL10, FGFR32.74
116Primary hyperaldosteronismEnrichmentBRAF, GNAS, TP532.73
117Brachydactyly, type a2EnrichmentBMP2, GDF52.68
118Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK2.68
119Multiple synostoses syndromeEnrichmentGDF5, GDF62.68
120Breast cancerEnrichmentAKT1, BRCA1, ESR1, GNG3, IL2, JUN, KRAS2.68
121Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR, NOTCH12.66
122Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.60
123Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.60
124Tubulinopathy-associated dysgyriaEnrichmentTUBB2B, TUBB32.60
125Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.59
126Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.59
127Erythrocytosis, familial, 1EnrichmentEPOR, JAK22.57
128Small cell cancer of the lungEnrichmentRB1, TP532.57
129Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP532.57
130Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R22.57
131CholangiocarcinomaEnrichmentBRCA2, ROS12.57
132Lung sarcomatoid carcinomaEnrichmentKRAS, TP532.57
133Aortic aneurysmEnrichmentSMAD3, TGFBR12.57
134Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB12.55
135Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB1, IL62.55
136Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB1, ITPR12.49
137Achromatopsia 4EnrichmentGNAI3, GNAT22.48
138Insulin-like growth factor iEnrichmentIGF1, IGF1R2.47
139Acute promyelocytic leukemiaEnrichmentPRKAR1A, STAT3, STAT5B2.45
140Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.43
141Wilms tumor 1EnrichmentBRAF, BRCA2, IGF22.43
142Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR32.39
143Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.38
144Ventricular septal defectEnrichmentBRAF, TEK2.38
145RhabdomyosarcomaEnrichmentALK, BRCA2, TP532.34
146Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB12.33
147Congenital heart defects, multiple types, 4EnrichmentBMP7, GATA42.33
148Diffuse cutaneous systemic sclerosisEnrichmentCCN2, HLA-DRB12.33
149Connective tissue diseaseEnrichmentFGFR3, NOTCH1, SMAD3, TGFBR22.32
150TubulinopathyEnrichmentTUBB2A, TUBB2B2.30
151Rare genetic intellectual disabilityEnrichmentCREBBP, EP300, GNAO12.30
152Atrial septal defect 1EnrichmentBMP2, TGFB22.30
153Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB42.30
154Pre-eclampsiaEnrichmentFLT1, NOS32.26
155Hemihyperplasia, isolatedEnrichmentIGF2, RHOA2.21
156Leukemia, acute lymphoblasticEnrichmentFLT3, GNB12.20
157Adrenocortical carcinomaEnrichmentCDKN2A, TP532.18
158Melanoma, uvealEnrichmentGNA11, PLCB42.16
159Limited sclerodermaEnrichmentCCN2, HLA-DRB12.16
160Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK2.16
161Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB32.16
162Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK12.16
163Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR22.13
164Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.09
165Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.09
166Capillary malformations, congenitalEnrichmentCCNH, GNA112.09
167Familial cerebral saccular aneurysmEnrichmentANGPTL6, TGFBR32.09
168Glaucoma, primary open angleEnrichmentCARD10, LTBP22.07
169Esophageal cancerEnrichmentTGFBR2, TP532.04
170MyelofibrosisEnrichmentJAK2, SRC2.04
171Squamous cell carcinoma, head and neckEnrichmentEGFR, TP532.04
172Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.04
173Hemochromatosis, type 1EnrichmentBMP2, BMP62.04
174HepatoblastomaEnrichmentBRCA2, FGFR3, TP532.00
175Lymphatic malformation 5EnrichmentEPHB41.95
176Brachydactyly, type b1EnrichmentROR21.95
177Erythroleukemia, familialEnrichmentERBB31.95
178HypochondroplasiaEnrichmentFGFR31.95
179Proteus syndromeEnrichmentAKT11.95
180Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.95
181Paget disease, extramammaryEnrichmentERBB21.95
182Osteoglophonic dysplasiaEnrichmentFGFR11.95
183Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.95
184Thanatophoric dysplasia, type iEnrichmentFGFR31.95
185Trigonocephaly 1EnrichmentFGFR11.95
186Donohue syndromeEnrichmentINSR1.95
187Spinocerebellar ataxia 27aEnrichmentFGF141.95
188Oculoectodermal syndromeEnrichmentKRAS1.95
189Muenke syndromeEnrichmentFGFR31.95
190Pallister-killian syndromeEnrichmentARAF1.95
191Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.95
192Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.95
193Noonan syndrome 5EnrichmentRAF11.95
194Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.95
195Hypomagnesemia 4, renalEnrichmentEGF1.95
196Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.95
197Pseudohypoparathyroidism, type icEnrichmentGNAS1.95
198Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.95
199Mastocytosis, cutaneousEnrichmentKIT1.95
200Carney complex, type 1EnrichmentPRKAR1A1.95
201Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.95
202Melorheostosis, isolatedEnrichmentMAP2K11.95
203Osseous heteroplasia, progressiveEnrichmentGNAS1.95
204Noonan syndrome 7EnrichmentBRAF1.95
205Leopard syndrome 3EnrichmentBRAF1.95
206Apert syndromeEnrichmentFGFR21.95
207Neuroblastoma 3EnrichmentALK1.95
208Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.95
209Cardiomyopathy, dilated, 1nnEnrichmentRAF11.95
210Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.95
211Myofibromatosis, infantile, 1EnrichmentPDGFRB1.95
212Melanosis, neurocutaneousEnrichmentNRAS1.95
213Thanatophoric dysplasia, type iiEnrichmentFGFR31.95
214Lethal congenital contracture syndrome 2EnrichmentERBB31.95
215Noonan syndrome 6EnrichmentNRAS1.95
216Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.95
217Deafness, autosomal recessive 44EnrichmentADCY11.95
218Gist-plus syndromeEnrichmentPDGFRA1.95
219Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.95
220Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.95
221Aplasia of lacrimal and salivary glandsEnrichmentFGF101.95
222Bent bone dysplasia syndrome 1EnrichmentFGFR21.95
223Ventricular tachycardia, familialEnrichmentGNAI21.95
224Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.95
225Noonan syndrome 11EnrichmentMRAS1.95
226Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.95
227Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.95
228Noonan syndrome 13EnrichmentMAPK11.95
229Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.95
230Deafness, autosomal recessive 108EnrichmentROR11.95
231Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.95
232Developmental and epileptic encephalopathy 58EnrichmentNTRK21.95
233Intellectual developmental disorder, x-linked 110EnrichmentFGF131.95
234Pituitary adenoma 3, multiple typesEnrichmentGNAS1.95
235Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.95
236Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.95
237Short syndromeEnrichmentPIK3R11.95
238Hereditary lymphedema idEnrichmentVEGFC1.95
239Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.95
240Osteofibrous dysplasiaEnrichmentMET1.95
241Auriculocondylar syndrome 2aEnrichmentPLCB41.95
242Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.95
243Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.95
244Developmental and epileptic encephalopathy 90EnrichmentFGF131.95
245Cardioacrofacial dysplasia 2EnrichmentPRKACB1.95
246Metacarpal 4-5 fusionEnrichmentFGF161.95
247Lymphatic malformation 4EnrichmentVEGFC1.95
248Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.95
249Myxoma, intracardiacEnrichmentPRKAR1A1.95
250Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.95
251Familial isolated trichomegalyEnrichmentFGF51.95
252Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.95
253Deafness, autosomal recessive 97EnrichmentMET1.95
254Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.95
255Microvascular complications of diabetes 1EnrichmentVEGFA1.95
256LymphangiomaEnrichmentBRAF1.95
257Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.95
258Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.95
259Phace associationEnrichmentBRAF1.95
260MelorheostosisEnrichmentMAP2K11.95
261Autism 9EnrichmentMET1.95
262Leopard syndrome 2EnrichmentRAF11.95
263Multiple synostoses syndrome 3EnrichmentFGF91.95
264Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.95
265Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.95
266Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.95
267Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.95
268Cowden syndrome 6EnrichmentAKT11.95
269Amyotrophic lateral sclerosis 19EnrichmentERBB41.95
270Nasopharyngeal carcinoma 3EnrichmentMST1R1.95
271Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.95
272Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.95
273Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.95
274Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.95
275Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.95
276Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.95
277Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.95
278Disorders of gnas inactivationEnrichmentGNAS1.95
279Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.95
280Kosaki overgrowth syndromeEnrichmentPDGFRB1.95
281Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.95
282Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.95
283Hartsfield syndromeEnrichmentFGFR11.95
284Congenital heart defects, multiple types, 7EnrichmentFLT41.95
285Renal hypodysplasia/aplasia 2EnrichmentFGF201.95
286Cardioacrofacial dysplasia 1EnrichmentPRKACA1.95
287Bleeding disorder, platelet-type, 22EnrichmentEPHB21.95
288Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.95
289Glaucoma 3, primary congenital, eEnrichmentTEK1.95
290Sick sinus syndrome 4EnrichmentGNB21.95
291Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.95
292Developmental and epileptic encephalopathy 47EnrichmentFGF121.95
293Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.95
294Chronic mast cell leukemiaEnrichmentKIT1.95
295TrigonitisEnrichmentRAF11.95
296Warburg-cinotti syndromeEnrichmentDDR21.95
297Auriculocondylar syndrome 2bEnrichmentPLCB41.95
298Tufted angioma of skinEnrichmentKDR1.95
299Arthrogryposis, distal, type 11EnrichmentMET1.95
300Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.95
301Csf1r-related disorderEnrichmentCSF1R1.95
302Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.95
303Bockenheimer syndromeEnrichmentTEK1.95
304Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.95
305Isolated bone marrow mastocytosisEnrichmentKIT1.95
306Congenital pulmonary airway malformationEnrichmentKRAS1.95
307Smoldering systemic mastocytosisEnrichmentKIT1.95
308Alk-positive anaplastic large cell lymphomaEnrichmentALK1.95
309Spinocerebellar ataxia type 27bEnrichmentFGF141.95
310Fgfr3-related chondrodysplasiaEnrichmentFGFR31.95
311MastocytosisEnrichmentKIT1.95
312Congenital primary lymphedema of gordonEnrichmentVEGFC1.95
313Syringocystadenoma papilliferumEnrichmentBRAF1.95
314Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.95
315Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.95
316GangliogliomaEnrichmentBRAF1.95
317Cutaneous mastocytomaEnrichmentKIT1.95
318Nongerminomatous germ cell tumorEnrichmentBRAF1.95
319Monostotic fibrous dysplasiaEnrichmentGNAS1.95
320Phace syndromeEnrichmentBRAF1.95
321Typical urticaria pigmentosaEnrichmentKIT1.95
322Phakomatosis pigmentokeratoticaEnrichmentHRAS1.95
323Classic hairy cell leukemiaEnrichmentBRAF1.95
324Nodular urticaria pigmentosaEnrichmentKIT1.95
325Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.95
326Alk-positive large b-cell lymphomaEnrichmentALK1.95
327Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.95
328Telangiectasia macularis eruptiva perstansEnrichmentKIT1.95
329Acute mast cell leukemiaEnrichmentKIT1.95
330Mazabraud syndromeEnrichmentGNAS1.95
331Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.95
332Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.95
333Plaque-form urticaria pigmentosaEnrichmentKIT1.95
334Interstitial lung disease specific to childhoodEnrichmentFGF101.95
335Serous carcinoma of the corpus uteriEnrichmentERBB21.95
336Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.95
337Neurocutaneous melanocytosisEnrichmentNRAS1.95
338Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.95
339Vein of galen aneurysmal malformationEnrichmentEPHB41.95
340Testis seminomaEnrichmentKIT1.95
341Junctional epidermolysis bullosaEnrichmentITGA6, ITGB41.93
342Renal agenesis, bilateralEnrichmentFGF20, ITGA81.93
343HydrocephalusEnrichmentFGFR2, PDGFRB1.93
344Glioma susceptibility 1EnrichmentERBB2, TP531.92
345Isolated growth hormone deficiency, type iaEnrichmentBRCA2, GH11.92
346Lymphoma, non-hodgkin, familialEnrichmentBRAF, TP531.92
347Congenital fibrosis of the extraocular musclesEnrichmentTUBB2B, TUBB31.92
348Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB11.90
349ThrombocytopeniaEnrichmentITGA2B, ITGB3, SRC, THPO1.90
350Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB31.84
351Hereditary breast carcinomaEnrichmentAKT1, BRCA2, KRAS, TP531.83
352Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.82
353Adult hepatocellular carcinomaEnrichmentEGF, TP531.82
354Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.80
355Hirschsprung disease 1EnrichmentERBB2, ERBB3, NRG31.77
356Cornelia de lange syndrome 1EnrichmentHDAC8, TAF61.73
357Cornelia de lange syndromeEnrichmentHDAC8, TAF61.73
358TrichothiodystrophyEnrichmentGTF2E2, GTF2H51.73
359Leukemia, chronic lymphocyticEnrichmentCCND1, TP531.73
360MelanomaEnrichmentBRAF, CDKN2A1.73
361Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.72
362Baraitser-winter syndrome 1EnrichmentACTB1.72
363Intellectual developmental disorder, x-linked 30EnrichmentPAK31.72
364Systemic lupus erythematosus 6EnrichmentITGAM1.72
365Glaucoma 3, primary congenital, dEnrichmentLTBP21.72
366Microphthalmia, isolated 4EnrichmentGDF61.72
367Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.72
368Noonan syndrome 4EnrichmentSOS11.72
369Deafness, autosomal recessive 39EnrichmentHGF1.72
370Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.72
371Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.72
372Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.72
373Noonan syndrome 9EnrichmentSOS21.72
374Myopathy, scapulohumeroperonealEnrichmentACTA11.72
375Ciliary dyskinesia, primary, 33EnrichmentDRC41.72
376Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.72
377Weill-marchesani syndrome 3EnrichmentLTBP21.72
378Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.72
379Multiple synostoses syndrome 4EnrichmentGDF61.72
380Knobloch syndrome 2EnrichmentPAK21.72
381Hyperemesis gravidarumEnrichmentGDF151.72
382Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.72
383Deafness, autosomal recessive 125EnrichmentGAS21.72
384Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.72
385Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.72
386Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.72
387Microphthalmia, syndromic 6EnrichmentBMP41.72
388Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.72
389Orofacial cleft 11EnrichmentBMP41.72
390Cardiomyopathy, dilated, 1wEnrichmentVCL1.72
391Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.72
392Camurati-engelmann disease 2EnrichmentTGFB21.72
393Geleophysic dysplasia 3EnrichmentLTBP31.72
394Becker nevus syndromeEnrichmentACTB1.72
395Dystonia-deafness syndrome 1EnrichmentACTB1.72
396Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.72
397Glaucoma 1, open angle, oEnrichmentNTF41.72
398Iron overloadEnrichmentBMP61.72
399Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.72
400Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.72
401Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.72
402Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.72
403Leber congenital amaurosis 17EnrichmentGDF61.72
404Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.72
405Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.72
406Autosomal dominant familial visceral neuropathyEnrichmentACTG21.72
407Loeys-dietz syndrome 5EnrichmentTGFB31.72
40820p12.3 microdeletion syndromeEnrichmentBMP21.72
409Thrombocytopenia 6EnrichmentSRC1.72
410Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.72
411Takenouchi-kosaki syndromeEnrichmentCDC421.72
412Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.72
413Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.72
414Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.72
415Premature ovarian failure 14EnrichmentGDF91.72
416Deafness, autosomal dominant 69EnrichmentKITLG1.72
417Thrombocytopenia 9EnrichmentTHPO1.72
418Amelogenesis imperfecta, type ihEnrichmentITGB61.72
419Baraitser-winter syndromeEnrichmentACTB1.72
420Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.72
421Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.72
422Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.72
423Zebra body myopathyEnrichmentACTA11.72
424Congenital smooth muscle hamartomaEnrichmentACTB1.72
425Capillary leak syndromeEnrichmentTLN11.72
426Nocarh syndromeEnrichmentCDC421.72
427Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.72
428Familial progressive hyperpigmentationEnrichmentKITLG1.72
429Actin-accumulation myopathyEnrichmentACTA11.72
430Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.72
431Myopathic intestinal pseudoobstructionEnrichmentACTG21.72
432Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.72
433Temporomandibular joint anomalyEnrichmentDOCK11.72
434Actg2 visceral myopathyEnrichmentACTG21.72
435CraniosynostosisEnrichmentFGFR2, FGFR31.69
436Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.68
437Cystic angiomatosis of bone, diffuseEnrichmentRASA11.68
438Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.68
439Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.68
440Cardiac valvular dysplasia 1EnrichmentPLD11.68
441Immunodeficiency 62EnrichmentARHGEF11.68
442Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.68
443Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.68
444Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.68
445Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.68
446Immunodeficiency 18EnrichmentCD3E1.68
447Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.68
448Immunodeficiency 25EnrichmentCD2471.68
449Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.68
450Immunodeficiency 22EnrichmentLCK1.68
451Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.68
452Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.68
453Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.68
454Immunodeficiency 129EnrichmentRHOH1.68
455T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.68
456Gorham's diseaseEnrichmentRASA11.68
457Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.68
458Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.68
459Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.68
460Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.67
461Melanoma, cutaneous malignant 3EnrichmentCDK41.67
462Cavitary optic disc anomaliesEnrichmentMMP191.67
463Glioma susceptibility 3EnrichmentBRCA21.67
464Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.67
465Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.67
466Accelerated tumor formationEnrichmentMDM21.67
467Pseudo-torch syndrome 3EnrichmentSTAT21.67
468Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.67
469Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.67
470Lessel-kubisch syndromeEnrichmentMDM21.67
471Disabling pansclerotic morphea of childhoodEnrichmentSTAT41.67
472Bone marrow failure syndrome 5EnrichmentTP531.67
473Frontotemporal dementia and/or amyotrophic lateral sclerosis 5EnrichmentCCNF1.67
474Papilloma of choroid plexusEnrichmentTP531.67
475Basal cell carcinoma 7EnrichmentTP531.67
476Anaplastic thyroid carcinomaEnrichmentTP531.67
477T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.67
478Systemic lupus erythematosus 11EnrichmentSTAT41.67
479Pancreatic cancer 2EnrichmentBRCA21.67
480Heterotaxy, visceral, 7, autosomalEnrichmentMMP211.67
481Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.67
482Neuroendocrine tumorEnrichmentCDKN1B1.67
483Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.67
484Coronary heart disease 6EnrichmentMMP31.67
485Immunodeficiency 31aEnrichmentSTAT11.67
486Loeys-dietz syndrome 6EnrichmentSMAD21.67
487Immunodeficiency 31bEnrichmentSTAT11.67
488Ductal carcinoma in situEnrichmentTP531.67
489Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.67
490Thyroid gland undifferentiated carcinomaEnrichmentTP531.67
491Trilateral retinoblastomaEnrichmentRB11.67
492Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.67
493Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.67
494T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.67
495Cdkn2a cancer predispositionEnrichmentCDKN2A1.67
496Heritable thoracic aortic diseaseEnrichmentSMAD41.67
497Capillary hemangiomaEnrichmentAKT31.67
498Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.67
499Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.67
500Choroid plexus cancerEnrichmentTP531.67
501Pleomorphic xanthoastrocytomaEnrichmentTP531.67
502Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.67
503Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.67
504Akt2-related familial partial lipodystrophyEnrichmentAKT21.67
505Lung oat cell carcinomaEnrichmentRB11.67
506Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.66
507Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.66
508Incontinentia pigmentiEnrichmentIKBKG1.66
509Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.66
510Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.66
511Fetal encasement syndromeEnrichmentCHUK1.66
512Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A1.66
513Atrioventricular septal defect 4EnrichmentGATA41.66
514Immunodeficiency 15bEnrichmentIKBKB1.66
515Immunodeficiency 81EnrichmentLCP21.66
516Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.66
517Immunodeficiency 15aEnrichmentIKBKB1.66
518Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.66
519Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.66
520Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.66
521Immunodeficiency 48EnrichmentZAP701.66
522Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.66
523Okt4 epitope deficiencyEnrichmentCD41.66
524Isolated growth hormone deficiency type iiiEnrichmentBTK1.66
525Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB11.66
526Lymphoproliferative syndrome 1EnrichmentITK1.66
527Atrial septal defect 2EnrichmentGATA41.66
528Dystonia 25EnrichmentGNAL1.66
529Long qt syndrome 16EnrichmentCALM31.66
530Hypocalcemia, autosomal dominant 2EnrichmentGNA111.66
531Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA1.66
532Testicular anomalies with or without congenital heart diseaseEnrichmentGATA41.66
533Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.66
534Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.66
5358p23.1 microdeletion syndromeEnrichmentGATA41.66
536Bartsocas-papas syndrome 2EnrichmentCHUK1.66
537Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.66
538Immunodeficiency 79EnrichmentCD41.66
539Immunodeficiency 19, severe combinedEnrichmentCD3D1.66
540Spastic paraplegia 88, autosomal dominantEnrichmentKPNA31.66
541Long qt syndrome 15EnrichmentCALM21.66
542Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.66
543ColitisEnrichmentSYK1.66
544Neonatal alloimmune neutropeniaEnrichmentFCGR3B1.66
545Agammaglobulinemia 3EnrichmentCD79A1.66
546Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA41.66
547Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.66
548Immunodeficiency 19EnrichmentCD3D1.66
549Phakomatosis cesiomarmorataEnrichmentGNA111.66
550Kaposiform hemangioendotheliomaEnrichmentGNA141.66
551Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT51.66
552Zap70-related severe combined immunodeficiencyEnrichmentZAP701.66
553Burkitt lymphomaEnrichmentMYC1.65
554Blue rubber bleb nevusEnrichmentTEK1.65
555Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.65
556Pseudohypoparathyroidism, type iaEnrichmentGNAS1.65
557Otodental dysplasiaEnrichmentFGF31.65
558Costello syndromeEnrichmentHRAS1.65
559Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.65
560Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.65
561TrichomegalyEnrichmentFGF51.65
562Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.65
563Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.65
564Pulmonary hypoplasia, primaryEnrichmentFGF101.65
565Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.65
566Histiocytoma, angiomatoid fibrousEnrichmentCREB11.65
567PseudopseudohypoparathyroidismEnrichmentGNAS1.65
568Piebald traitEnrichmentKIT1.65
569Bleeding disorder, platelet-type, 8EnrichmentP2RY121.65
570Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.65
571Aural atresia, congenitalEnrichmentFGFR21.65
572Keratosis, seborrheicEnrichmentFGFR31.65
573Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.65
574Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.65
575Night blindness, congenital stationary, type 1hEnrichmentGNB31.65
576Spermatogenic failure 17EnrichmentPLCZ11.65
577Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.65
578Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.65
579Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.65
580Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.65
581Lymphatic malformation 11EnrichmentTIE11.65
582Noonan syndrome 12EnrichmentRRAS21.65
583Usher syndrome, type ivEnrichmentPRKAR1A1.65
584Infantile myofibromatosisEnrichmentPDGFRB1.65
585Childhood hepatocellular carcinomaEnrichmentMET1.65
586Split hand-foot malformationEnrichmentFGFR21.65
587Rosette-forming glioneuronal tumorEnrichmentFGFR11.65
588AcrodysostosisEnrichmentPRKAR1A1.65
589PseudohypoparathyroidismEnrichmentGNAS1.65
590Papillary renal cell carcinomaEnrichmentMET1.65
591Congenital mesoblastic nephromaEnrichmentNTRK31.65
592Body mass index quantitative trait locus 19EnrichmentADCY31.65
593Fibrolamellar carcinomaEnrichmentPRKACA1.65
594Ocular melanomaEnrichmentPLCB41.65
595FibrosarcomaEnrichmentNTRK31.65
596Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.65
597HypopituitarismEnrichmentGNAI21.65
598Retinitis pigmentosa 38EnrichmentMERTK1.65
599Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.65
600Acute myeloid leukemia without maturationEnrichmentFLT31.65
601Interfrontal craniofaciosynostosisEnrichmentFGFR11.65
602Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.65
603Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.65
604Chronic eosinophilic leukemiaEnrichmentPDGFRA1.65
605Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.65
606B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.65
607Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.65
608B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.65
609Common variable immunodeficiency 12EnrichmentNFKB11.65
610Tafro syndromeEnrichmentMAP2K21.65
611Oculootodental syndromeEnrichmentFGF31.65
612Cerebral visual impairmentEnrichmentGNB11.65
613Wooly hair nevusEnrichmentHRAS1.65
614Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.62
615Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC61.62
616Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF11.62
617Dystonia 3, torsion, x-linkedEnrichmentTAF11.62
618Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityEnrichmentTAF21.62
619Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.62
620Leukodystrophy, hypomyelinating, 27EnrichmentPOLR1A1.62
62146,xy sex reversal 2EnrichmentNR0B11.62
622Adrenal hypoplasia, congenitalEnrichmentNR0B11.62
623Auriculocondylar syndrome 4EnrichmentHDAC91.62
624Cornelia de lange syndrome 5EnrichmentHDAC81.62
625Infant-type hemispheric gliomaEnrichmentBRCA11.62
626Trichothiodystrophy 6, nonphotosensitiveEnrichmentGTF2E21.62
627Developmental and epileptic encephalopathy 17EnrichmentGNAO11.62
628Ovarian dysgenesis 8EnrichmentESR21.62
629Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.62
630Night blindness, congenital stationary, type 1gEnrichmentGNAT11.62
631Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.62
632Alazami-yuan syndromeEnrichmentTAF61.62
633Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP11.62
634Intellectual developmental disorder, autosomal recessive 60EnrichmentTAF131.62
635Menke-hennekam syndrome 1EnrichmentCREBBP1.62
636Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.62
637Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.62
638X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF11.62
639Cerebral cavernous malformations 5EnrichmentMAP3K31.62
640Menke-hennekam syndromeEnrichmentCREBBP1.62
64115q11q13 microduplication syndromeEnrichmentUBE3A1.62
642Gnao1-related disorderEnrichmentGNAO11.62
643Verrucous hemangiomaEnrichmentMAP3K31.62
644Primary peritoneal carcinomaEnrichmentBRCA11.62
645Prostate cancerEnrichmentBRCA2, EPHB2, TP531.62
646Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.61
647Immunodeficiency 89 and autoimmunityEnrichmentCARD101.61
648Spinocerebellar ataxia 14EnrichmentPRKCG1.61
649Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.61
650Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.61
651Sezary's diseaseEnrichmentBCL101.61
652Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.61
653Mucosa-associated lymphomaEnrichmentBCL101.61
654Hepatocellular carcinomaEnrichmentIGF2R, MET, TP531.59
655CakutEnrichmentACTG1, GDF6, LIFR1.59
656MeningiomaEnrichmentAKT1, PDGFB1.58
657Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT3, MYC1.57
658Cleft lip/palateEnrichmentBMP4, PDGFRA1.56
659Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.53
660Type 1 diabetes mellitus 10EnrichmentIL2RA1.53
661Spinocerebellar ataxia 12EnrichmentPPP2R2B1.53
662Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.53
663Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.53
664Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.53
665Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.53
666Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.53
667Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.53
668Houge-janssens syndrome 4EnrichmentPPP2R5C1.53
669Houge-janssens syndrome 2EnrichmentPPP2R1A1.53
670Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.53
671Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.53
672Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.53
673Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.53
674Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.53
675Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.53
676Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.53
677Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.53
678Congenital myopathy 26EnrichmentTUBA4A1.53
679Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.53
680Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.53
681Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.53
682Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.53
683Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB101.53
684Aortic valve disease 1EnrichmentNOTCH1, SOS11.51
685Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, ITGA71.50
686Fetal akinesia deformation sequence 1EnrichmentACTA1, MUSK, ROR21.49
687AchondroplasiaEnrichmentFGFR31.48
688Mccune-albright syndromeEnrichmentGNAS1.48
689Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.48
690Larsen syndromeEnrichmentFGFR31.48
691Ataxia-telangiectasiaEnrichmentBRAF1.48
692Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.48
693Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.48
694Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.48
695Stuve-wiedemann syndrome 1EnrichmentLIFR1.48
696Nephrotic syndrome, type 3EnrichmentPLCE11.48
697Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.48
698Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.48
699Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.48
700Nizon-isidor syndromeEnrichmentP2RY121.48
701Primary polycythemiaEnrichmentEPOR1.48
702Bronchopulmonary dysplasiaEnrichmentMUSK1.48
703High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.48
704HamartomaEnrichmentFGFR31.48
705Lymphatic malformation 7EnrichmentEPHB41.48
706Immunodeficiency 14EnrichmentPIK3R11.48
707Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.48
708Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.48
709Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.48
710Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.48
711Melanoma of soft tissueEnrichmentCREB11.48
712Mixed phenotype acute leukemia with tEnrichmentFLT31.48
713Renal cell carcinomaEnrichmentMET1.48
714Stüve-wiedemann syndromeEnrichmentLIFR1.48
715Aortic aneurysm, familial thoracic 1EnrichmentNOTCH1, SMAD31.45
71646,xy partial gonadal dysgenesisEnrichmentGATA4, SOS11.43
717Acromicric dysplasiaEnrichmentLTBP31.43
718Cri-du-chat syndromeEnrichmentSEMA5A1.43
719Leukocyte adhesion deficiency, type iEnrichmentITGB21.43
720Sorsby fundus dystrophyEnrichmentTIMP31.43
721Fibromatosis, gingival, 1EnrichmentSOS11.43
722Camurati-engelmann disease 1EnrichmentTGFB11.43
723Kyphomelic dysplasiaEnrichmentCCN21.43
724Omodysplasia 1EnrichmentGPC61.43
725Dermatofibrosarcoma protuberansEnrichmentPDGFB1.43
726Parkinson disease 8, autosomal dominantEnrichmentGDF61.43
727Aortic aneurysm, familial thoracic 2EnrichmentACTA21.43
728Deafness, autosomal dominant 20EnrichmentACTG11.43
729Multiple synostoses syndrome 2EnrichmentGDF51.43
730Smooth muscle dysfunction syndromeEnrichmentACTA21.43
731Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.43
732Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.43
733Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.43
734Aortic aneurysm, familial thoracic 6EnrichmentACTA21.43
735Baraitser-winter syndrome 2EnrichmentACTG11.43
736Silver-russell syndrome 3EnrichmentIGF21.43
737Osteogenesis imperfecta, type xiiiEnrichmentBMP11.43
738Moyamoya disease 5EnrichmentACTA21.43
739Brachydactyly, type a1, cEnrichmentGDF51.43
740Symphalangism, proximal, 1bEnrichmentGDF51.43
741Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.43
742Waardenburg syndrome, type 2fEnrichmentKITLG1.43
743Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.43
744Periventricular nodular heterotopia 8EnrichmentARF11.43
745Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.43
746Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.43
747Kowarski syndromeEnrichmentGH11.43
748Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.43
749Camurati-engelmann diseaseEnrichmentTGFB11.43
750Microphthalmia/coloboma 6EnrichmentGDF61.43
751Immune system diseaseEnrichmentCDC421.43
752Proximal symphalangismEnrichmentGDF51.43
753Craniosynostosis 7EnrichmentBMP21.43
754Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.43
755Short stature due to growth hormone qualitative anomalyEnrichmentGH11.43
756Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.43
757Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.43
758Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.43
759Intestinal obstructionEnrichmentACTG21.43
760Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.43
761Primary ovarian insufficiencyEnrichmentBMP6, JAK2, KDR, NTRK11.42
762Myelodysplastic syndromeEnrichmentGNB1, TP531.40
763Lynch syndromeEnrichmentKRAS, TGFBR21.39
764Scoliosis, isolated 1EnrichmentMAPK71.38
765Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD31.38
766Spinocerebellar ataxia 46EnrichmentPLD31.38
767Charcot-marie-tooth disease type 4fEnrichmentPLD31.38
768Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.37
769Myhre syndromeEnrichmentSMAD41.37
770Adrenocortical carcinoma, hereditaryEnrichmentTP531.37
771Hemangiopericytoma, malignantEnrichmentSTAT61.37
772Metaphyseal dysplasia, spahr typeEnrichmentMMP131.37
773Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.37
774Spondyloepimetaphyseal dysplasia, missouri typeEnrichmentMMP131.37
775Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.37
776Amelogenesis imperfecta, hypomaturation type, iia2EnrichmentMMP201.37
777Microvascular complications of diabetes 5EnrichmentTGFBR21.37
778Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.37
779Adams-oliver syndrome 5EnrichmentNOTCH11.37
780Chromosome 13q14 deletion syndromeEnrichmentRB11.37
781Lymphoma, hodgkin, classicEnrichmentTP531.37
782Thrombocythemia 3EnrichmentJAK21.37
783Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.37
784Loeys-dietz syndrome 3EnrichmentSMAD31.37
785Immunodeficiency 31cEnrichmentSTAT11.37
786Intravascular large b-cell lymphomaEnrichmentBCL21.37
787Diffuse midline glioma, h3 k27m-mutantEnrichmentBRCA21.37
788Recessive dystrophic epidermolysis bullosaEnrichmentMMP11.37
789Senior-loken syndrome 7EnrichmentAKT31.37
790Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.37
791Preterm premature rupture of the membranesEnrichmentMMP81.37
792Congenital fibrosarcomaEnrichmentTP531.37
793Metaphyseal anadysplasia 2EnrichmentMMP91.37
794Li-fraumeni syndrome 1EnrichmentTP531.37
795SarcomaEnrichmentTP531.37
796Fanconi anemia, complementation group d1EnrichmentBRCA21.37
797Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.37
798Hodgkin's lymphomaEnrichmentTP531.37
799Bardet-biedl syndrome 16EnrichmentAKT31.37
800Inflammatory breast carcinomaEnrichmentBRCA21.37
801PolycythemiaEnrichmentJAK21.37
802Bilateral breast cancerEnrichmentBRCA21.37
803Hypereosinophilic syndromeEnrichmentJAK21.37
804Familial retinoblastomaEnrichmentRB11.37
805Pleomorphic rhabdomyosarcomaEnrichmentTP531.37
806Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.37
807Neuroendocrine tumor of pancreasEnrichmentBRCA21.37
808Spinocerebellar ataxia 29EnrichmentITPR11.36
809Cutis marmorata telangiectatica congenitaEnrichmentGNA111.36
810Immunodeficiency 33EnrichmentIKBKG1.36
811Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.36
812Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK1.36
813Agammaglobulinemia 6, autosomal recessiveEnrichmentCD79B1.36
814Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.36
815Creutzfeldt-jakob diseaseEnrichmentHLA-DQB11.36
816Sarcoidosis 1EnrichmentHLA-DRB11.36
817Long qt syndrome 14EnrichmentCALM11.36
818Agammaglobulinemia, x-linkedEnrichmentBTK1.36
819Lymphoproliferative syndromeEnrichmentITK1.36
820Agammaglobulinemia 4EnrichmentBLNK1.36
821Agammaglobulinemia 6EnrichmentCD79B1.36
822Autosomal dominant hypocalcemiaEnrichmentGNA111.36
823Spastic paraplegia 37, autosomal dominantEnrichmentKPNA31.36
82446,xy sex reversal 3EnrichmentGATA41.36
825Immunodeficiency 17EnrichmentCD3G1.36
826Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.36
827Immunodeficiency 52EnrichmentLAT1.36
828Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.36
829ArthritisEnrichmentSYK1.36
830Primary mediastinal large b-cell lymphomaEnrichmentXPO11.36
831Phakomatosis cesioflammeaEnrichmentGNA111.36
832Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.36
833Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.36
834Pseudohypoparathyroidism, type ibEnrichmentGNAS1.36
835Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.36
836Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.36
837Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.36
838Carney complex variantEnrichmentPRKAR1A1.36
839Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.36
840Barrett esophagusEnrichmentERBB21.36
841Developmental and epileptic encephalopathy 12EnrichmentPLCB11.36
842Congenital generalized lipodystrophyEnrichmentFOS1.36
843Chronic myelomonocytic leukemiaEnrichmentFLT31.36
844CraniopharyngiomaEnrichmentBRAF1.36
845Pilocytic astrocytomaEnrichmentKRAS1.36
846Newborn respiratory distress syndromeEnrichmentBRAF1.36
847Epidermolytic nevusEnrichmentHRAS1.36
848Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.36
849Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.36
850Familial sick sinus syndromeEnrichmentGNB21.36
851Thumb deformityEnrichmentCREBBP1.32
852Spinocerebellar ataxia 17EnrichmentTBP1.32
853Syndactyly, type iiiEnrichmentHDAC81.32
854Intellectual developmental disorder, autosomal dominant 73EnrichmentTAF41.32
855Fanconi anemia, complementation group sEnrichmentBRCA11.32
856Menke-hennekam syndrome 2EnrichmentEP3001.32
857Pancreatic cancer 4EnrichmentBRCA11.32
858Wilson-turner syndromeEnrichmentHDAC81.32
859Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.32
860Acrofacial dysostosis, cincinnati typeEnrichmentPOLR1A1.32
861Peritoneum cancerEnrichmentBRCA11.32
862Angelman syndrome due to maternal 15q11q13 deletionEnrichmentUBE3A1.32
863Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.31
864Immunodeficiency 37EnrichmentBCL101.31
865Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, ERBB4, PPARGC1A, TAF151.30
866Cataract 6, multiple typesEnrichmentEPHA21.26
867Robinow syndrome, autosomal recessive 1EnrichmentROR21.26
868Histiocytoid hemangiomaEnrichmentFOS1.26
869AniridiaEnrichmentEPHA21.26
870Systemic lupus erythematosusEnrichmentFCGR2A, FCGR3B, HLA-DRB11.26
871Brachydactyly, type a1EnrichmentGDF51.26
872Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.26
873Brachydactyly, type cEnrichmentGDF51.26
874Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.26
875Exfoliation syndromeEnrichmentLTBP21.26
876Acromesomelic dysplasia 2aEnrichmentGDF51.26
877Thrombocythemia 1EnrichmentTHPO1.26
878Acromesomelic dysplasia 2cEnrichmentGDF51.26
879Acromesomelic dysplasia 2bEnrichmentGDF51.26
880Uvula, bifidEnrichmentARF31.26
881Nuchal bleb, familialEnrichmentSOS11.26
882Muscular dystrophy, duchenne typeEnrichmentLTBP41.26
883Transposition of the great arteries, dextro-loopedEnrichmentBMP21.26
884Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.26
885Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.26
886Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.26
887Weill-marchesani syndrome 1EnrichmentLTBP21.26
888Autosomal recessive cutis laxa type iEnrichmentLTBP11.26
889Isolated growth hormone deficiency, type ibEnrichmentGH11.26
890KyphosisEnrichmentARF31.26
891High bone mass osteogenesis imperfectaEnrichmentBMP11.26
892Bleeding disorder, platelet-type, 24EnrichmentITGB31.26
893Geleophysic dysplasiaEnrichmentLTBP31.26
894Alopecia - intellectual disability syndromeEnrichmentITGB61.26
895Isolated klippel-feil syndromeEnrichmentGDF61.26
896Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.26
897Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.24
898Lethal congenital contracture syndrome 8EnrichmentADCY61.24
899Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.24
900Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.24
901Houge-janssens syndrome 3EnrichmentPPP2CA1.24
902Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, ERBB4, GNB11.23
903Heart, malformation ofEnrichmentGATA4, MAPK11.23
904Alzheimer disease, familial, 1EnrichmentCSF1R, NOS31.21
905Hypertension, essentialEnrichmentGNB3, NOS31.21
906Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD11.21
907Wieacker-wolff syndromeEnrichmentRASA11.21
908Type 2 diabetes mellitusEnrichmentAKT2, IL6, INSR1.21
909Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.20
910RetinoblastomaEnrichmentRB11.20
911Juvenile polyposis syndromeEnrichmentSMAD41.20
912Polycythemia veraEnrichmentJAK21.20
913Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.20
914Nasopharyngeal carcinomaEnrichmentTP531.20
915Woolly hair, autosomal recessive 3EnrichmentRB11.20
916Tumor predisposition syndrome 1EnrichmentBRCA21.20
917Hypotrichosis 8EnrichmentRB11.20
918Hyper ige syndromeEnrichmentSTAT31.20
919Atypical teratoid rhabdoid tumorEnrichmentTP531.20
920Anaplastic astrocytomaEnrichmentTP531.20
921AdenocarcinomaEnrichmentTP531.20
922Immunodeficiency 44EnrichmentSTAT21.20
923Bap1 tumor predisposition syndromeEnrichmentBRCA21.20
924KeratoacanthomaEnrichmentNOTCH11.20
925Tooth agenesisEnrichmentFGFR1, TGFA1.19
926Gillespie syndromeEnrichmentITPR11.19
927Mycosis fungoidesEnrichmentCD281.19
928Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.19
929Agammaglobulinemia 1EnrichmentBTK1.19
930Adult-onset myasthenia gravisEnrichmentHLA-DQA11.19
931Advanced sleep phase syndromeEnrichmentCSNK1D1.19
932Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.19
933Saczary syndromeEnrichmentCD281.19
934Cowden syndrome 1EnrichmentEGFR1.19
935Split-hand/foot malformation 1EnrichmentFGFR21.19
936Wilms tumor 5EnrichmentBRAF1.19
937Inflammatory myofibroblastic tumorEnrichmentALK1.19
938Autosomal recessive robinow syndromeEnrichmentROR21.19
939Cerebral palsyEnrichmentGNB1, PDGFRB1.16
940Burn-mckeown syndromeEnrichmentPOLR1A1.15
941Estrogen resistanceEnrichmentESR11.15
942Intraocular pressure quantitative trait locusEnrichmentCREBBP1.15
943Migraine without auraEnrichmentESR11.15
944Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentUBE3A1.15
945Mesothelioma, malignantEnrichmentBCL101.14
946T-cell acute lymphoblastic leukemiaEnrichmentBCL101.14
947West syndromeEnrichmentCSNK1E, NTRK2, PLCB11.14
948Kaposi sarcomaEnrichmentIL61.13
949Amelogenesis imperfecta, type iiiaEnrichmentITGB61.13
950Isolated growth hormone deficiency, type iiEnrichmentGH11.13
951Nemaline myopathy 2EnrichmentACTA11.13
952Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.13
953Autoimmune lymphoproliferative syndromeEnrichmentACTA21.13
954Microtia-anotiaEnrichmentBMP51.13
955Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.13
956Retinitis pigmentosa 26EnrichmentITGA41.13
957Aminoacylase 1 deficiencyEnrichmentACTB1.13
958Weill-marchesani syndromeEnrichmentLTBP21.13
959Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.13
960Knobloch syndromeEnrichmentPAK21.13
961Silver-russell syndrome due to a point mutationEnrichmentIGF21.13
962Intermediate nemaline myopathyEnrichmentACTA11.13
963Gingival fibromatosisEnrichmentSOS11.13
964Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.13
965Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.13
966Endometrial cancerEnrichmentBRCA2, FGFR21.13
967MicrocephalyEnrichmentEP300, GNAO1, GNB1, HDAC8, IGF1R, MAPK11.12
968Renal cell carcinoma, papillary, 1EnrichmentMET1.12
969BrachydactylyEnrichmentGNAS1.12
970Common variable immunodeficiencyEnrichmentNFKB11.12
971Overgrowth syndromeEnrichmentPIK3R11.12
972Hypophosphatemic ricketsEnrichmentFGF231.12
973Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, MET, ROR11.11
974Visceral heterotaxyEnrichmentLEFTY2, MMP211.09
975DystoniaEnrichmentCAMK2B, GNAL, GNB11.08
976ChordomaEnrichmentBRCA21.08
977Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA21.08
978Budd-chiari syndromeEnrichmentJAK21.08
979Lynch syndrome 4EnrichmentRB11.08
980Mantle cell lymphomaEnrichmentCCND11.08
981Embryonal rhabdomyosarcomaEnrichmentTP531.08
982Pregnancy loss, recurrent 1EnrichmentCCNB31.08
983Adenosine deaminase deficiencyEnrichmentJAK31.08
984Pediatric systemic lupus erythematosusEnrichmentSTAT41.08
985Primary hyperparathyroidismEnrichmentCDKN1B1.08
986Temporal arteritisEnrichmentHLA-DRB11.07
987Spinocerebellar ataxia 15EnrichmentITPR11.07
988Transposition of the great arteriesEnrichmentGATA41.07
989Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.07
990Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.07
991Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.07
992Arthrogryposis, distal, type 1aEnrichmentMET1.07
993Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.07
994HypothyroidismEnrichmentGNB11.07
995NeuroblastomaEnrichmentALK1.07
996Early-onset posterior polar cataractEnrichmentEPHA21.07
997Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.04
998Visceral myopathy 1EnrichmentACTG21.04
999Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.04
1000Congenital myopathy 3 with rigid spineEnrichmentACTA11.04
1001Rheumatoid arthritis, systemic juvenileEnrichmentIL61.04
1002Atrioventricular septal defectEnrichmentBMP51.04
1003Knobloch syndrome 1EnrichmentPAK21.04
1004Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.04
1005Glanzmann thrombasthenia 2EnrichmentITGB31.04
1006Epidermolysis bullosaEnrichmentITGA61.04
1007Juvenile glaucomaEnrichmentLTBP21.04
1008Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.04
1009Aplasia cutis congenitaEnrichmentITGB41.04
1010Coloboma of choroid and retinaEnrichmentACTG11.04
1011Severe congenital nemaline myopathyEnrichmentACTA11.04
1012MalariaEnrichmentFCGR2A, IKBKG1.04
1013Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.03
1014Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.03
1015Hereditary ataxiaEnrichmentPRKCG1.02
1016Orofacial cleft 1EnrichmentFGF101.02
1017Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.02
1018Nephrotic syndrome, type 1EnrichmentPLCE11.02
1019Developmental and epileptic encephalopathy 14EnrichmentPLCB11.02
1020Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT31.02
1021Hypogonadotropic hypogonadismEnrichmentFGFR11.02
1022Cowden syndromeEnrichmentAKT11.02
1023Martsolf syndrome 1EnrichmentARHGAP51.00
1024Von hippel-lindau syndromeEnrichmentCCND10.99
1025Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK30.99
1026Rhabdomyosarcoma 2EnrichmentTP530.99
1027Breast-ovarian cancer, familial 2EnrichmentBRCA20.99
1028Follicular lymphomaEnrichmentBCL20.99
1029LymphomaEnrichmentTP530.99
1030Myeloproliferative neoplasmEnrichmentJAK20.99
1031Acute megakaryocytic leukemiaEnrichmentTP530.99
1032HemimegalencephalyEnrichmentAKT30.99
1033Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD40.99
1034Congenital stationary night blindnessEnrichmentGNAT1, GNB30.98
1035Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.98
1036Meier-gorlin syndrome 1EnrichmentFGFR20.97
1037Ciliary dyskinesia, primary, 3EnrichmentNFKB10.97
1038Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMUSK0.97
1039Primary bone dysplasiaEnrichmentFGFR30.97
1040Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS0.97
1041Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB40.97
1042Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.97
1043Moyamoya disease 1EnrichmentACTA20.97
1044Type 1 diabetes mellitusEnrichmentIL60.97
1045Dental anomalies and short statureEnrichmentLTBP30.97
1046Anterior segment dysgenesis 5EnrichmentBMP40.97
1047Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.97
1048Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB10.97
1049Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB40.97
1050Intestinal pseudo-obstructionEnrichmentACTG20.97
1051Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB10.97
1052Typical nemaline myopathyEnrichmentACTA10.97
1053Chorea, benign hereditaryEnrichmentADCY50.95
1054Alzheimer disease 2EnrichmentNOS30.94
1055Chondrosarcoma, extraskeletal myxoidEnrichmentTAF150.94
1056Night blindness, congenital stationary, type 1cEnrichmentGNAT10.94
1057Rubinstein-taybi syndrome 2EnrichmentEP3000.94
1058Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentNR0B10.94
1059Hereditary breast ovarian cancer syndromeEnrichmentBRCA2, KRAS, TP530.94
1060Frontotemporal dementia 1EnrichmentCSF1R0.94
1061OsteochondrodysplasiaEnrichmentFGFR30.94
1062Specific learning disabilityEnrichmentMAPK10.94
1063Lymphoma, mucosa-associated lymphoid typeEnrichmentBCL100.93
1064Klippel-trenaunay-weber syndromeEnrichmentRASA10.92
1065Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA10.92
1066Basal cell carcinoma 1EnrichmentRASA10.92
1067Kabuki syndrome 1EnrichmentBRCA20.91
1068Chronic mucocutaneous candidiasisEnrichmentSTAT10.91
1069Classic ehlers-danlos syndromeEnrichmentTGFBR10.91
1070Silver-russell syndrome 1EnrichmentIGF20.90
1071Waardenburg syndrome, type 2eEnrichmentKITLG0.90
1072Epidermolysis bullosa simplexEnrichmentITGB40.90
1073Childhood-onset nemaline myopathyEnrichmentACTA10.90
1074Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.90
1075Granulomatosis with polyangiitisEnrichmentHLA-DPA10.90
1076Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR10.90
1077LissencephalyEnrichmentTUBB2B, TUBB30.90
1078Septooptic dysplasiaEnrichmentFGFR10.90
1079Postsynaptic congenital myasthenic syndromesEnrichmentMUSK0.90
1080Undetermined early-onset epileptic encephalopathyEnrichmentFGF12, NTRK2, PPP3CA0.90
1081Angelman syndromeEnrichmentUBE3A0.87
1082HypertrichosisEnrichmentCREBBP0.87
1083Alzheimer's diseaseEnrichmentCSF1R0.87
1084Protein-deficiency anemiaEnrichmentNRAS0.87
1085Oligoarticular juvenile idiopathic arthritisEnrichmentCD2470.86
1086Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2470.86
1087Renal hypodysplasia/aplasia 1EnrichmentITGA80.85
1088Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.85
1089Lennox-gastaut syndromeEnrichmentMAPK100.85
1090Mosaic variegated aneuploidy syndromeEnrichmentPAK60.85
1091Adams-oliver syndromeEnrichmentNOTCH10.85
1092MegacolonEnrichmentAKT30.85
1093Amelogenesis imperfecta type 2EnrichmentMMP200.85
1094Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.84
1095Generalized epilepsy with febrile seizures plusEnrichmentFGF130.84
1096CataractEnrichmentEPHA20.84
1097Long qt syndromeEnrichmentCALM1, CALM20.83
1098Renal cell carcinoma, nonpapillaryEnrichmentMET0.81
1099Cystic fibrosisEnrichmentFCGR2A, TGFB10.80
1100Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.80
1101Congenital central hypoventilation syndromeEnrichmentBDNF0.80
1102Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.80
1103Permanent neonatal diabetes mellitusEnrichmentSTAT30.80
1104Hypoplastic left heart syndromeEnrichmentNOTCH10.80
1105Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.79
1106Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.79
1107Cleft palate, isolatedEnrichmentGNB10.76
1108Cataract 44EnrichmentEPHA20.76
1109Cat eye syndromeEnrichmentACTG10.76
1110Peters-plus syndromeEnrichmentBMP40.76
1111Amelogenesis imperfecta, type ieEnrichmentITGB60.76
1112Stickler syndromeEnrichmentBMP40.76
1113Nemaline myopathyEnrichmentACTA10.76
1114Fanconi anemia, complementation group cEnrichmentHDAC80.75
1115Choreatic diseaseEnrichmentGNAO10.75
1116Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRCA20.75
1117PolydactylyEnrichmentBRCA20.75
1118Leukemia, acute lymphoblastic 3EnrichmentJAK20.75
1119Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.75
1120Coronary heart disease 5EnrichmentIKBKG0.74
1121Early-onset nuclear cataractEnrichmentEPHA20.74
1122Distal arthrogryposisEnrichmentACTA1, ROR20.73
1123Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBB2B0.72
1124Pectus excavatumEnrichmentARF30.72
1125Meningioma, familialEnrichmentPDGFB0.72
1126Heritable pulmonary arterial hypertensionEnrichmentGDF20.72
1127Charge syndromeEnrichmentEP3000.71
1128PolymicrogyriaEnrichmentAKT30.71
1129Familial colorectal cancerEnrichmentTP530.71
1130Isolated tracheo-esophageal fistulaEnrichmentBRCA20.71
1131Focal segmental glomerulosclerosisEnrichmentPLCE10.70
1132Cutis laxaEnrichmentLTBP40.69
1133Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.69
1134Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.69
1135Charcot-marie-tooth diseaseEnrichmentARHGEF10, PLD30.67
1136Uterine corpus cancerEnrichmentBRCA20.67
1137Familial colorectal cancer type xEnrichmentBRCA20.67
1138Stroke, ischemicEnrichmentNOS30.67
1139AchromatopsiaEnrichmentGNAT20.67
1140Immune deficiency diseaseEnrichmentSYK0.66
1141Combined immunodeficiencyEnrichmentZAP700.66
1142Combined t cell and b cell immunodeficiencyEnrichmentZAP700.66
1143Combined t and b cell immunodeficiencyEnrichmentZAP700.66
1144Attention deficit-hyperactivity disorderEnrichmentGNB50.66
1145Neural tube defectsEnrichmentITGB10.66
1146Pulmonary hypertension, primary, 1EnrichmentGDF20.66
1147Amelogenesis imperfectaEnrichmentLTBP30.66
1148Dilated cardiomyopathyEnrichmentBRAF, RAF10.65
1149Nephrotic syndromeEnrichmentITGA3, PLCE10.64
1150Migraine with or without aura 1EnrichmentESR10.63
1151Atrial heart septal defectEnrichmentHDAC80.63
115246,xy complete gonadal dysgenesisEnrichmentNR0B10.63
1153Movement diseaseEnrichmentGNAO10.63
1154Interatrial communicationEnrichmentHDAC80.63
1155OsteoporosisEnrichmentSRC0.63
1156Periventricular nodular heterotopiaEnrichmentARF10.63
1157Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.63
1158Isolated macular dystrophyEnrichmentITGA40.63
1159Congenital long qt syndromeEnrichmentITPR30.63
1160Bilateral perisylvian polymicrogyriaEnrichmentTUBB2B0.63
1161Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.63
1162Breast-ovarian cancer, familial 1EnrichmentBRCA20.61
1163Chromosome 1p36 deletion syndromeEnrichmentMMP23B0.61
1164Osteogenesis imperfecta, type iiiEnrichmentBMP10.60
1165Congenital nervous system abnormalityEnrichmentCREBBP, FGFR3, GNAO1, GNB50.60
1166Nervous system diseaseEnrichmentCREBBP, FGFR3, GNAO1, GNB50.60
1167Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, KITLG0.59
1168StrabismusEnrichmentGNB10.58
1169MedulloblastomaEnrichmentBRCA20.58
1170Heart diseaseEnrichmentGATA40.57
1171Anterior segment dysgenesisEnrichmentITPR10.54
1172Developmental and epileptic encephalopathyEnrichmentARHGEF15, GNAO10.54
1173Cone-rod dystrophy 6EnrichmentGNAT20.54
1174Beckwith-wiedemann syndromeEnrichmentIGF20.54
1175Human immunodeficiency virus type 1EnrichmentCXCL120.54
1176Neuromuscular diseaseEnrichmentACTA10.54
1177Congenital hypothyroidismEnrichmentTUBB10.52
1178Congenital myopathyEnrichmentACTA10.52
1179Polydactyly, postaxial, type a1EnrichmentEP3000.52
1180Corpus callosum, agenesis ofEnrichmentCREBBP0.52
1181Isolated corpus callosum agenesisEnrichmentCREBBP0.52
1182Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.52
1183Familial hypertrophic cardiomyopathyEnrichmentRAF10.51
1184Sudden infant death syndromeEnrichmentCALM20.50
1185Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.50
1186Charcot-marie-tooth disease type 4EnrichmentPLD30.50
1187Macs syndromeEnrichmentGDF60.50
1188Left ventricular noncompactionEnrichmentRAF10.49
1189Centronuclear myopathyEnrichmentACTA10.48
1190Patent foramen ovaleEnrichmentGATA40.48
1191Syndromic intellectual disabilityEnrichmentTAF60.47
1192Behcet syndromeEnrichmentSTAT40.47
1193Esophageal atresia/tracheoesophageal fistulaEnrichmentBRCA20.47
1194Myocardial infarctionEnrichmentITGB30.47
1195Skin diseaseEnrichmentITGB40.47
1196Autism spectrum disorderEnrichmentGNB1, MAP2K10.46
1197Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF8, GATA40.45
1198Polycystic kidney diseaseEnrichmentHDAC80.45
1199Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.45
1200Brittle bone disorderEnrichmentBMP10.45
1201Familial isolated dilated cardiomyopathyEnrichmentRAF1, TAF1A0.44
1202ScoliosisEnrichmentARF30.44
1203Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.43
1204Parkinson's diseaseEnrichmentTBP0.43
1205Cardiomyopathy, dilated, 1aEnrichmentNFATC20.43
1206Centralopathic epilepsyEnrichmentPLCB10.42
1207Brugada syndromeEnrichmentSEMA3A0.41
1208Diamond-blackfan anemia 1EnrichmentTP530.40
1209Familial atrial fibrillationEnrichmentGATA40.38
1210Severe covid-19EnrichmentITGAV0.37
1211Developmental and epileptic encephalopathy 1EnrichmentCSNK1E0.37
1212Parkinson disease, late-onsetEnrichmentTBP0.36
1213Cone dystrophyEnrichmentGNAT20.36
1214HypertelorismEnrichmentFGFR20.35
1215Williams-beuren syndromeEnrichmentLIMK10.35
1216Peripheral nervous system diseaseEnrichmentNGF0.34
1217NeuropathyEnrichmentNGF0.34
1218Spastic ataxiaEnrichmentITPR1, TUBB30.33
1219Complex neurodevelopmental disorderEnrichmentPAK3, RAC3, RALA0.32
1220Visceral heterotaxy 5EnrichmentMMP210.31
1221Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.30
1222Non-syndromic genetic deafnessEnrichmentACTG10.30
1223MyopathyEnrichmentACTA10.27
1224Fanconi anemia, complementation group aEnrichmentBRCA20.27
1225Primary autosomal recessive microcephalyEnrichmentTAF130.27
1226Diamond-blackfan anemiaEnrichmentTP530.26
1227Primary ciliary dyskinesiaEnrichmentDRC4, PRKAR1B0.26
1228Nonsyndromic hearing lossEnrichmentACTG10.26
1229Eye diseaseEnrichmentGNAT20.24
1230Sensorineural hearing lossEnrichmentHGF0.22
1231Cone-rod dystrophy 2EnrichmentITGA40.14
1232Optic atrophy plus syndromeEnrichmentTUBB60.14
1233AutismEnrichmentARF30.13
1234Rare genetic deafnessEnrichmentACTG10.11
1235Mitochondrial diseaseEnrichmentGFER0.09
1236Leber plus diseaseEnrichmentGDF60.08
1237Retinitis pigmentosaEnrichmentMERTK0.04
1238Hereditary retinal dystrophyEnrichmentITGA4, MERTK, TIMP30.04
1239Fundus dystrophyEnrichmentITGA4, MERTK, TIMP30.04

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