Prolactin Signaling

Pathway network for the Prolactin Signaling SuperPath

Sources:
  • QIAGEN
  • WikiPathways
  • PharmGKB
  • GeneGo (Thomson Reuters)
  • Reactome

Pathways in the Prolactin Signaling SuperPath

#NameSourceGenes
1Prolactin SignalingQIAGEN
2PI3K Signaling in B-LymphocyteQIAGEN
3Glioblastoma MultiformeQIAGEN
4ErbB signaling pathwayWikiPathways
5EGFR tyrosine kinase inhibitor resistanceWikiPathways
6Glioblastoma signaling pathwaysWikiPathways
7ErbB2-ErbB3 HeterodimersQIAGEN
8IL-2 PathwayQIAGEN
9TREM1 PathwayQIAGEN
10ErbB Family PathwayQIAGEN
11LPS Stimulated MAPK SignalingQIAGEN
12PACAP SignalingQIAGEN
13EGFR Inhibitor Pathway, PharmacodynamicsPharmGKB
14HMGB1 PathwayQIAGEN
15Development Prolactin receptor signalingGeneGo (Thomson Reuters)
16ErbB4 PathwayQIAGEN
17Growth Hormone SignalingQIAGEN
18Thrombopoietin PathwayQIAGEN
19UVC-Induced MAPK SignalingQIAGEN
20Estrogen-stimulated signaling through PRKCZReactome
21TCA cycle nutrient use and invasiveness of ovarian cancerWikiPathways

Gene overlap in member pathways for Prolactin Signaling SuperPath

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

Disorders associated with Prolactin Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Ovarian cancerEnrichmentAKT1, APC, CDKN1B, CDKN2A, CTNNB1, EGFR, KRAS, PDGFRA, PTEN, RB1, RRAS2, TP53, TSC216.00
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS116.00
4Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA16.00
5Bladder cancerEnrichmentEGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, NF1, PIK3CA, PTEN16.00
6Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS216.00
7Colorectal cancerEnrichmentAKT1, BAX, BRAF, CCND1, ERBB2, FGFR2, FGFR3, MET, NRAS, PIK3CA, PIK3R1, SRC11.33
8Hereditary breast carcinomaEnrichmentAKT1, ATM, BRCA1, BRCA2, KRAS, MSH6, PIK3CA, PTEN, TP5310.94
9Gastric cancerEnrichmentATM, BRCA1, BRCA2, CDK4, CDKN2A, ERBB2, FGFR2, KRAS, MSH6, NF1, PIK3CA, PTEN, TP5310.75
10Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, EGF, TP53, TSC1, TSC210.70
11Lip and oral cavity carcinomaEnrichmentBRAF, CDKN2A, EGFR, HRAS, PIK3CA, RB1, TP5310.63
12Inherited cancer-predisposing syndromeEnrichmentATM, BRCA1, BRCA2, CDK4, CDKN1B, CDKN2A, EGFR, MET, MSH6, NF1, PDGFRA, PTEN, RB1, TP53, TSC1, TSC210.61
13Breast cancerEnrichmentAKT1, ATM, BRCA1, BRCA2, CDKN2B, KRAS, MSH6, PIK3CA, PTEN, TP5310.46
14RhabdomyosarcomaEnrichmentBRCA1, BRCA2, CBL, HRAS, MSH6, NF1, PTEN, TP5310.44
15Endometrial cancerEnrichmentATM, BRCA1, BRCA2, FGFR2, MSH6, PIK3CA, PTEN10.29
16Myeloma, multipleEnrichmentATM, BRAF, BRCA2, CCND1, CDKN2C, KRAS, NF1, PIK3R2, TP5310.15
17Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K210.07
18Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K210.07
19Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, KRAS, RB1, TP539.87
20Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA9.75
21Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS9.62
22Prostate cancerEnrichmentATM, BRCA1, BRCA2, MSH6, PIK3CA, PTEN, TP539.46
23Lung cancerEnrichmentBRAF, BRCA1, EGFR, ERBB2, KRAS, MET, PIK3CA9.14
24Hereditary breast ovarian cancer syndromeEnrichmentATM, BRCA1, BRCA2, KRAS, MSH6, NF1, PTEN, TP538.90
25Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS18.56
26Uterine corpus cancerEnrichmentATM, BRCA1, BRCA2, MSH6, PTEN8.49
27Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF18.34
28Pancreatic cancerEnrichmentATM, BRCA1, BRCA2, CDKN2A, KRAS, TP538.18
29HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN8.17
30Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, TP537.73
31Lung squamous cell carcinomaEnrichmentCDKN2A, EGFR, KRAS, PIK3CA7.73
32Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS7.62
33Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS, PTEN7.39
34Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS, PTEN7.39
35Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B, CDKN2B, CDKN2C7.37
36Gallbladder cancerEnrichmentBRAF, KRAS, PIK3CA, TP537.37
37Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, RAF17.37
38Diffuse large b-cell lymphomaEnrichmentBRAF, BRCA2, FOXO1, PTEN, TP537.11
39Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS6.79
40Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS6.76
41Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT36.69
42Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.46
43Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, RRAS6.32
44Large congenital melanocytic nevusEnrichmentHRAS, NRAS6.31
45MeningiomaEnrichmentAKT1, PDGFB, PIK3CA, PTEN6.19
46Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND2, PIK3R26.07
47Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, RASA16.02
48Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS6.01
49Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, CD79A, CD79B, PIK3R15.96
50Rhabdomyosarcoma 2EnrichmentFOXO1, NF1, TP535.68
51Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB5.68
52Focal cortical dysplasia, type iiEnrichmentMTOR, TSC1, TSC25.67
53CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB15.67
54Isolated focal cortical dysplasia type iiEnrichmentMTOR, TSC1, TSC25.67
55GliosarcomaEnrichmentATM, EGFR, FGFR1, TP535.67
56Arteriovenous malformationEnrichmentHRAS, MAP2K1, RASA15.64
57Melanoma, cutaneous malignant 1EnrichmentBRAF, CDK4, CDKN2A, CDKN2B5.56
58Giant cell glioblastomaEnrichmentATM, EGFR, FGFR1, TP535.56
59Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, RASA15.49
60Leukemia, chronic myeloidEnrichmentKRAS, NRAS5.47
61Li-fraumeni syndromeEnrichmentCDKN2A, MDM2, TP535.38
62Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN5.38
63Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS5.31
64Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP535.14
65Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, TP534.98
66Specific learning disabilityEnrichmentGHR, MAPK1, RPS6KA34.92
67Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.76
68Pulmonic stenosisEnrichmentBRAF, SOS14.72
69Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A4.62
70Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP534.61
71MelanomaEnrichmentBRAF, CDKN2A, PTEN4.61
72Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, TP534.56
73Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.52
74Immunodeficiency 33EnrichmentIKBKG, IRAK44.49
75Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD884.49
76Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.46
77LymphangioleiomyomatosisEnrichmentTSC1, TSC24.44
78Pfeiffer syndromeEnrichmentFGFR1, FGFR24.44
79Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.44
80Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.44
81Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA4.44
82Inflammatory breast carcinomaEnrichmentBRCA1, BRCA24.44
83Bilateral breast cancerEnrichmentBRCA1, BRCA24.44
84Pleomorphic rhabdomyosarcomaEnrichmentNF1, TP534.44
85Keratosis, seborrheicEnrichmentFGFR3, PIK3CA4.42
86Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP534.30
87Lung sarcomatoid carcinomaEnrichmentKRAS, TP534.30
88Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF14.30
89Alzheimer disease 4EnrichmentPSEN1, PSEN24.24
90Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, BRCA24.23
91Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.23
92Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.23
93High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC4.23
94Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.23
95Nk-cell enteropathyEnrichmentAXL, IGF1R, PIK3CB4.20
96Melanoma of soft tissueEnrichmentATF1, CREB14.14
97Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD19, CD814.12
98Non-immune hydrops fetalisEnrichmentHRAS, KRAS4.12
99Behcet syndromeEnrichmentIFNGR1, TLR4, TNFRSF1A4.08
100Meningioma, familialEnrichmentNF2, PDGFB, PTEN4.08
101Tethered spinal cord syndromeEnrichmentBRAF, CREBBP4.07
102Lynch syndromeEnrichmentKRAS, MSH6, PIK3CA4.04
103Ataxia-telangiectasiaEnrichmentATM, BRAF3.97
104Tuberous sclerosis 1EnrichmentTSC1, TSC23.97
105Osteogenic sarcomaEnrichmentRB1, TP533.97
106Dedifferentiated liposarcomaEnrichmentCDK4, MDM23.97
107HamartomaEnrichmentTSC1, TSC23.97
108Squamous cell carcinomaEnrichmentRB1, TP533.97
109AdenocarcinomaEnrichmentATM, TP533.97
110Bone osteosarcomaEnrichmentRB1, TP533.97
111Well-differentiated liposarcomaEnrichmentCDK4, MDM23.97
112Crouzon syndromeEnrichmentFGFR2, FGFR33.95
113Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR33.95
114SpermatocytomaEnrichmentFGFR3, HRAS3.95
115Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN113.93
116Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR33.90
117Leukemia, acute myeloidEnrichmentKRAS, NRAS3.90
118Insulin-like growth factor iEnrichmentIGF1, IGF1R3.75
119MyelofibrosisEnrichmentJAK2, MPL3.71
120Essential thrombocythemiaEnrichmentJAK2, MPL3.71
121Myeloproliferative neoplasmEnrichmentCBL, JAK23.71
122Desmoid disease, hereditaryEnrichmentAPC, CTNNB13.70
123Desmoid tumorEnrichmentAPC, CTNNB13.70
124Small cell cancer of the lungEnrichmentRB1, TP533.67
125Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA1, BRCA23.67
126Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF13.67
127CholangiocarcinomaEnrichmentBRCA1, BRCA23.67
128Lynch syndrome 4EnrichmentMSH6, RB13.67
129Mantle cell lymphomaEnrichmentATM, CCND13.67
130Tuberous sclerosisEnrichmentTSC1, TSC23.67
131Embryonal rhabdomyosarcomaEnrichmentNF1, TP533.67
132Pilocytic astrocytomaEnrichmentKRAS, NF13.67
133GliomaEnrichmentFGFR2, PTEN3.67
134T-cell acute lymphoblastic leukemiaEnrichmentABL1, BCL103.65
135Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.65
136Lymphoma, non-hodgkin, familialEnrichmentBRAF, TP533.63
137Multisystem inflammatory syndrome in childrenEnrichmentIRAK3, TLR3, TLR63.58
138Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK13.58
139Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.53
140Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.53
141Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.53
142Primary hyperaldosteronismEnrichmentBRAF, TP533.52
143Systemic lupus erythematosusEnrichmentBLK, CR2, FCGR2B, SPP13.45
144Breast-ovarian cancer, familial 2EnrichmentBRCA1, BRCA23.45
145Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.45
146Noonan syndrome 13EnrichmentMAPK13.43
147T-cell large granular lymphocyte leukemiaEnrichmentSTAT33.43
148Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT33.43
149Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT33.43
150Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT33.43
151Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK13.43
152Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.43
153Hirschsprung disease 1EnrichmentERBB2, ERBB3, NRG33.42
154Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN23.40
155Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B-PAK6, PAK63.36
156Oculoectodermal syndromeEnrichmentKRAS3.35
157Melanosis, neurocutaneousEnrichmentNRAS3.35
158Noonan syndrome 6EnrichmentNRAS3.35
159Cardiofaciocutaneous syndrome 2EnrichmentKRAS3.35
160Congenital pulmonary airway malformationEnrichmentKRAS3.35
161Phakomatosis pigmentokeratoticaEnrichmentHRAS3.35
162Neurocutaneous melanocytosisEnrichmentNRAS3.35
163Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.30
164HepatoblastomaEnrichmentAPC, CTNNB1, TP533.20
165Overgrowth syndromeEnrichmentMTOR, PIK3R13.19
166Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD43.19
167Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB3.16
168Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB3.16
169Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B3.15
170Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK13.13
171Lymphoma, mucosa-associated lymphoid typeEnrichmentBCL10, MALT13.13
172Renal cell carcinoma, papillary, 1EnrichmentATM, MET3.13
173B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP533.13
174Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB3.07
175Costello syndromeEnrichmentHRAS3.05
176Wooly hair nevusEnrichmentHRAS3.05
177Severe combined immunodeficiencyEnrichmentIKBKB, JAK3, LCK3.04
178Glioma susceptibility 1EnrichmentERBB2, TP533.01
179Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.98
180Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.96
181Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR2.96
182Hyper ige syndromeEnrichmentSTAT32.96
183Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR2.96
184Mosaic variegated aneuploidy syndromeEnrichmentBUB1B-PAK6, PAK62.92
185Leukemia, acute lymphoblastic 3EnrichmentJAK2, NF12.88
186Lynch syndrome 1EnrichmentATM, MSH62.80
187Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN2, RAF12.78
188Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.75
189Epidermolytic nevusEnrichmentHRAS2.75
190Exudative vitreoretinopathyEnrichmentCTNNB1, FZD42.74
191Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, ERBB42.72
192Familial colorectal cancer type xEnrichmentATM, BRCA22.72
193Autism spectrum disorderEnrichmentMAP2K1, NF1, PTEN, TCF4, TSC22.70
194Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.70
19546,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS12.68
196Permanent neonatal diabetes mellitusEnrichmentSTAT32.53
197Pallister-killian syndromeEnrichmentARAF2.53
198Noonan syndrome 5EnrichmentRAF12.53
199Melorheostosis, isolatedEnrichmentMAP2K12.53
200Noonan syndrome 7EnrichmentBRAF2.53
201Leopard syndrome 3EnrichmentBRAF2.53
202Cardiomyopathy, dilated, 1nnEnrichmentRAF12.53
203Seckel syndrome 1EnrichmentATR2.53
204Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.53
205Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.53
206Noonan syndrome 11EnrichmentMRAS2.53
207Bone marrow failure syndrome 5EnrichmentTP532.53
208Papilloma of choroid plexusEnrichmentTP532.53
209Basal cell carcinoma 7EnrichmentTP532.53
210Anaplastic thyroid carcinomaEnrichmentTP532.53
211LymphangiomaEnrichmentBRAF2.53
212Phace associationEnrichmentBRAF2.53
213Spinocerebellar ataxia 14EnrichmentPRKCG2.53
214MelorheostosisEnrichmentMAP2K12.53
215Leopard syndrome 2EnrichmentRAF12.53
216Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR2.53
217Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.53
218Ductal carcinoma in situEnrichmentTP532.53
219Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.53
220Acid sphingomyelinase deficiencyEnrichmentSMPD12.53
221Thrombocytopenia 6EnrichmentSRC2.53
222TrigonitisEnrichmentRAF12.53
223Thyroid gland undifferentiated carcinomaEnrichmentTP532.53
224Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.53
225Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.53
226Choroid plexus cancerEnrichmentTP532.53
227Syringocystadenoma papilliferumEnrichmentBRAF2.53
228Pleomorphic xanthoastrocytomaEnrichmentTP532.53
229GangliogliomaEnrichmentBRAF2.53
230Nongerminomatous germ cell tumorEnrichmentBRAF2.53
231Phace syndromeEnrichmentBRAF2.53
232Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR2.53
233Classic hairy cell leukemiaEnrichmentBRAF2.53
234Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.53
235Cystic angiomatosis of bone, diffuseEnrichmentRASA12.51
236Thrombocythemia 2EnrichmentMPL2.51
237Noonan syndrome 4EnrichmentSOS12.51
238Amegakaryocytic thrombocytopenia, congenital, 1EnrichmentMPL2.51
239Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.51
240Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.51
241Short syndromeEnrichmentPIK3R12.51
242Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.51
243Immunodeficiency 31aEnrichmentSTAT12.51
244Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.51
245Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.51
246Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.51
247Immunodeficiency 31bEnrichmentSTAT12.51
248Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.51
249Gorham's diseaseEnrichmentRASA12.51
250Renal cell carcinoma, nonpapillaryEnrichmentATM, MET2.44
251Wilms tumor 1EnrichmentBRAF, BRCA22.44
252HydrocephalusEnrichmentFGFR2, PDGFRB2.44
253Coffin-lowry syndromeEnrichmentRPS6KA32.37
254Dermatitis, atopic, 4EnrichmentSOCS32.37
255Laron syndromeEnrichmentGHR2.37
256Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.37
257Growth hormone insensitivity, partialEnrichmentGHR2.37
258Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.37
259Proteus syndromeEnrichmentAKT12.35
260Paget disease, extramammaryEnrichmentERBB22.35
261Acne inversa, familial, 1EnrichmentNCSTN2.35
262Noonan syndrome 9EnrichmentSOS22.35
263Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.35
264Cardiomyopathy, dilated, 1vEnrichmentPSEN22.35
265Cardiomyopathy, dilated, 1uEnrichmentPSEN12.35
266Cowden syndrome 6EnrichmentAKT12.35
267Amyotrophic lateral sclerosis 19EnrichmentERBB42.35
268Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN2.35
269Acne inversa, familial, 3EnrichmentPSEN12.35
270Pash syndromeEnrichmentNCSTN2.35
271Huntington's disease-likeEnrichmentPSEN22.35
272Serous carcinoma of the corpus uteriEnrichmentERBB22.35
273MacrodactylyEnrichmentPIK3CA2.35
274MetachondromatosisEnrichmentPTPN112.35
275Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.35
276Megalencephaly, autosomal dominantEnrichmentPIK3CA2.35
277Leopard syndrome 1EnrichmentPTPN112.35
278Cowden syndrome 5EnrichmentPIK3CA2.35
279Multiple fibroadenomas of the breastEnrichmentPRLR2.35
280Glucocorticoid resistance, generalizedEnrichmentNR3C12.35
281Transient erythroblastopenia of childhoodEnrichmentTEC2.35
282Cerebral cavernous malformations 4EnrichmentPIK3CA2.35
283HyperprolactinemiaEnrichmentPRLR2.35
284Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.35
285Hemifacial myohyperplasiaEnrichmentPIK3CA2.35
286Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.35
287Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.35
288Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaEnrichmentOAS12.35
289Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.35
290Menke-hennekam syndrome 1EnrichmentCREBBP2.35
291Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.35
292Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.35
293Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.35
294HypospadiasEnrichmentPIK3CA2.35
295Capillary hemangiomaEnrichmentAKT32.35
296Familial hyperprolactinemiaEnrichmentPRLR2.35
297Rare venous malformationEnrichmentPIK3CA2.35
298Diaphragmatic eventrationEnrichmentPIK3CA2.35
299Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.35
300Menke-hennekam syndromeEnrichmentCREBBP2.35
301Rare combined vascular malformationEnrichmentPIK3CA2.35
302Cavernous lymphangiomaEnrichmentPIK3CA2.35
303Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.35
304Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaEnrichmentOAS12.35
305Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.35
306Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.35
307Eccrine angiomatous hamartomaEnrichmentPIK3CA2.35
308Macrodactyly of toeEnrichmentPIK3CA2.35
309Akt2-related familial partial lipodystrophyEnrichmentAKT22.35
310Malignant astrocytomaEnrichmentPTPN112.35
311Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A2.34
312Helicobacter pylori infectionEnrichmentIFNGR12.34
313Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB12.34
314Immunodeficiency 27aEnrichmentIFNGR12.34
315Immunodeficiency 69EnrichmentIFNG2.34
316Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R12.34
317Immunodeficiency 27bEnrichmentIFNGR12.34
318Multiple sclerosis 5EnrichmentTNFRSF1A2.34
319Macular degeneration, age-related, 10EnrichmentTLR42.34
320Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A2.34
321Takenouchi-kosaki syndromeEnrichmentCDC422.34
322Immunodeficiency 129EnrichmentRHOH2.34
323T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH2.34
324Nocarh syndromeEnrichmentCDC422.34
325Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR22.34
326Dandy-walker syndromeEnrichmentBRAF, PDGFRB2.33
327Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.31
328Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.31
329Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.31
330Pseudohypoparathyroidism, type icEnrichmentGNAS2.31
331Carney complex, type 1EnrichmentPRKAR1A2.31
332Osseous heteroplasia, progressiveEnrichmentGNAS2.31
333Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD12.31
334Deafness, autosomal recessive 44EnrichmentADCY12.31
33546,xy sex reversal 6EnrichmentMAP3K12.31
336Frontometaphyseal dysplasia 2EnrichmentMAP3K72.31
337Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.31
338Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.31
339Pituitary adenoma 3, multiple typesEnrichmentGNAS2.31
340Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.31
341Auriculocondylar syndrome 2aEnrichmentPLCB42.31
342Cardioacrofacial dysplasia 2EnrichmentPRKACB2.31
343Myxoma, intracardiacEnrichmentPRKAR1A2.31
344Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.31
345Disorders of gnas inactivationEnrichmentGNAS2.31
346Cardioacrofacial dysplasia 1EnrichmentPRKACA2.31
347Auriculocondylar syndrome 2bEnrichmentPLCB42.31
348Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.31
349Immunodeficiency 112EnrichmentMAP3K142.31
350Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.31
351Cerebral cavernous malformations 5EnrichmentMAP3K32.31
352Monostotic fibrous dysplasiaEnrichmentGNAS2.31
353Verrucous hemangiomaEnrichmentMAP3K32.31
354Mazabraud syndromeEnrichmentGNAS2.31
355Nik deficiencyEnrichmentMAP3K142.31
356Erythroleukemia, familialEnrichmentERBB32.31
357Hypomagnesemia 4, renalEnrichmentEGF2.31
358Lethal congenital contracture syndrome 2EnrichmentERBB32.31
359Pseudo-torch syndrome 3EnrichmentSTAT22.31
360Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.31
361Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.31
362Disabling pansclerotic morphea of childhoodEnrichmentSTAT42.31
363Systemic lupus erythematosus 11EnrichmentSTAT42.31
364Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.31
365Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.31
366Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.31
367Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.31
368Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.31
369ScoliosisEnrichmentCREBBP, PTPN112.29
370Incontinentia pigmentiEnrichmentIKBKG2.26
371Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.26
372Fetal encasement syndromeEnrichmentCHUK2.26
373Immunodeficiency 15bEnrichmentIKBKB2.26
374Immunodeficiency 15aEnrichmentIKBKB2.26
375Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.26
376Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.26
377Bartsocas-papas syndrome 2EnrichmentCHUK2.26
378Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.26
379Intellectual developmental disorder, x-linked 30EnrichmentPAK32.25
380Knobloch syndrome 2EnrichmentPAK22.25
381MedulloblastomaEnrichmentAPC, CTNNB12.25
382Chromosome 1p36 deletion syndromeEnrichmentPRKCZ2.24
383Protein-deficiency anemiaEnrichmentNRAS2.24
384Leprosy 3EnrichmentTLR22.24
385Legionnaire diseaseEnrichmentTLR52.24
386Immunodeficiency 68EnrichmentMYD882.24
387Macroglobulinemia, waldenstrom 1EnrichmentMYD882.24
388Immunodeficiency 83 viral infectionsEnrichmentTLR32.24
389Leprosy 5EnrichmentTLR12.24
390Immunodeficiency 82 with systemic inflammationEnrichmentSYK2.24
391Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR72.24
392Systemic lupus erythematosus 1EnrichmentTLR52.24
393X-linked immunodeficiency 74EnrichmentTLR72.24
394Systemic lupus erythematosus 17EnrichmentTLR72.24
395Asthma-related traits 5EnrichmentIRAK32.24
396Thrombocytopenia 4EnrichmentCYCS2.24
397Immunodeficiency 67EnrichmentIRAK42.24
398MelioidosisEnrichmentTLR52.24
399ColitisEnrichmentSYK2.24
400Waldenstram macroglobulinemiaEnrichmentMYD882.24
401Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT52.24
402Type 2 diabetes mellitusEnrichmentAKT2, IRS1, IRS22.24
403Vacterl association with hydrocephalusEnrichmentPTEN2.23
404Type 1 diabetes mellitus 10EnrichmentIL2RA2.23
405Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB2.23
406Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.23
407Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.23
408Papillary tumor of the pineal regionEnrichmentPTEN2.23
409Glioma susceptibility 2EnrichmentPTEN2.23
410Immunodeficiency 22EnrichmentLCK2.23
411T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK32.23
412Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.23
413Adrenocortical carcinoma, hereditaryEnrichmentTP532.23
414Cervical cancerEnrichmentTP532.23
415Lymphoma, hodgkin, classicEnrichmentTP532.23
416Noonan syndrome 12EnrichmentRRAS22.23
417Congenital fibrosarcomaEnrichmentTP532.23
418Li-fraumeni syndrome 1EnrichmentTP532.23
419SarcomaEnrichmentTP532.23
420Cervix carcinomaEnrichmentTP532.23
421Hodgkin's lymphomaEnrichmentTP532.23
422Tafro syndromeEnrichmentMAP2K22.23
423Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT62.22
424Neuroendocrine tumorEnrichmentCDKN1B2.22
425Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.22
426Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.22
427Beare-stevenson cutis gyrata syndromeEnrichmentFGFR22.22
428Osteoglophonic dysplasiaEnrichmentFGFR12.22
429Trigonocephaly 1EnrichmentFGFR12.22
430Premature aging syndrome, penttinen typeEnrichmentPDGFRB2.22
431Deafness, autosomal recessive 26EnrichmentGAB12.22
432Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA2.22
433Melanoma, cutaneous malignant 3EnrichmentCDK42.22
434Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR22.22
435Apert syndromeEnrichmentFGFR22.22
436Glioma susceptibility 3EnrichmentBRCA22.22
437Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND22.22
438Myofibromatosis, infantile, 1EnrichmentPDGFRB2.22
439Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.22
440Iga nephropathy 3EnrichmentSPRY22.22
441Gist-plus syndromeEnrichmentPDGFRA2.22
442Accelerated tumor formationEnrichmentMDM22.22
443Bent bone dysplasia syndrome 1EnrichmentFGFR22.22
444Lessel-kubisch syndromeEnrichmentMDM22.22
445Bone marrow failure syndrome 6EnrichmentMDM42.22
446Osteofibrous dysplasiaEnrichmentMET2.22
447Oculoskeletodental syndromeEnrichmentPIK3C2A2.22
448Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA2.22
449Infant-type hemispheric gliomaEnrichmentBRCA12.22
450Pancreatic cancer 2EnrichmentBRCA22.22
451Deafness, autosomal recessive 97EnrichmentMET2.22
452Autism 9EnrichmentMET2.22
453Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB2.22
454Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB2.22
455Endometrial serous adenocarcinomaEnrichmentATM2.22
456Kosaki overgrowth syndromeEnrichmentPDGFRB2.22
457Hartsfield syndromeEnrichmentFGFR12.22
458Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB2.22
459Trilateral retinoblastomaEnrichmentRB12.22
460Plexiform neurofibromaEnrichmentNF12.22
461Arthrogryposis, distal, type 11EnrichmentMET2.22
462NeurofibromaEnrichmentNF12.22
463Cdkn2a cancer predispositionEnrichmentCDKN2A2.22
464NeurofibromatosisEnrichmentNF12.22
465Chromosome 17q11.2 deletion syndromeEnrichmentNF12.22
466B-cell non-hodgkin lymphomaEnrichmentATM2.22
467Optic nerve gliomaEnrichmentNF12.22
468Oculocerebrodental syndromeEnrichmentPIK3C2A2.22
469Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.22
470Non-syndromic unicoronal craniosynostosisEnrichmentFGFR22.22
471Primary peritoneal carcinomaEnrichmentBRCA12.22
472Lung oat cell carcinomaEnrichmentRB12.22
473Fibromatosis, gingival, 1EnrichmentSOS12.21
474Scoliosis, isolated 1EnrichmentMAPK72.21
475Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B2.21
476Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.21
477Thrombocythemia 3EnrichmentJAK22.21
478Immunodeficiency 31cEnrichmentSTAT12.21
479PolycythemiaEnrichmentJAK22.21
480Congenital amegakaryocytic thrombocytopeniaEnrichmentMPL2.21
481Hypereosinophilic syndromeEnrichmentJAK22.21
482Laron syndrome with immunodeficiencyEnrichmentSTAT5B2.21
483HypochondroplasiaEnrichmentFGFR32.21
484Thanatophoric dysplasia, type iEnrichmentFGFR32.21
485Muenke syndromeEnrichmentFGFR32.21
486Deafness, autosomal recessive 39EnrichmentHGF2.21
487Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB2.21
488Thanatophoric dysplasia, type iiEnrichmentFGFR32.21
489Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.21
490Autism 19EnrichmentEIF4E2.21
491Microvascular complications of diabetes 1EnrichmentVEGFA2.21
492Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.21
493Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R2.21
494Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R2.21
495Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R2.21
496Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.21
497Tufted angioma of skinEnrichmentKDR2.21
498Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.21
499Fgfr3-related chondrodysplasiaEnrichmentFGFR32.21
500Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.21
501Heart, malformation ofEnrichmentMAPK12.18
502CraniosynostosisEnrichmentFGFR2, FGFR32.17
503Nail disorder, nonsyndromic congenital, 1EnrichmentFZD62.09
504Omodysplasia 2EnrichmentFZD22.09
505Schwannomatosis, vestibularEnrichmentNF22.09
506Caudal duplication anomalyEnrichmentAXIN12.09
507Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.09
508Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF32.09
509Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF32.09
510Microphthalmia/coloboma 11EnrichmentFZD52.09
511Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF42.09
512Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.09
513Adenoid ameloblastomaEnrichmentCTNNB12.09
514Familial adenomatous polyposisEnrichmentAPC2.09
515Acoustic neuromaEnrichmentNF22.09
516Gardner syndromeEnrichmentAPC2.09
5175q22 microdeletion syndromeEnrichmentAPC2.09
518Attenuated familial adenomatous polyposisEnrichmentAPC2.09
519Microcystic stromal tumorEnrichmentCTNNB12.09
520Silver-russell syndrome 3EnrichmentIGF22.07
521Growth hormone deficiency, isolated partialEnrichmentGHR2.07
522Kowarski syndromeEnrichmentGH12.07
523Short stature due to growth hormone qualitative anomalyEnrichmentGH12.07
524Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF12.07
525Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF22.07
526Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF22.07
527Immunodeficiency, common variable, 6EnrichmentCD812.06
528Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A2.06
529Immunodeficiency 89 and autoimmunityEnrichmentCARD102.06
530Isolated growth hormone deficiency type iiiEnrichmentBTK2.06
531Immunodeficiency with hyper-igm, type 3EnrichmentCD402.06
532Long qt syndrome 16EnrichmentCALM32.06
533Immunodeficiency 12EnrichmentMALT12.06
534Achromatopsia 7EnrichmentATF62.06
535Immunodeficiency, common variable, 3EnrichmentCD192.06
536Immunodeficiency 105, severe combinedEnrichmentPTPRC2.06
537Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.06
538Cd45 deficiencyEnrichmentPTPRC2.06
539Sezary's diseaseEnrichmentBCL102.06
540Long qt syndrome 15EnrichmentCALM22.06
541Agammaglobulinemia 3EnrichmentCD79A2.06
542Mucosa-associated lymphomaEnrichmentBCL102.06
543Niemann-pick disease, type aEnrichmentSMPD12.05
544Niemann-pick disease, type bEnrichmentSMPD12.05
545Nasopharyngeal carcinomaEnrichmentTP532.05
546Ceroid lipofuscinosis, neuronal, 6aEnrichmentSMPD12.05
547Atypical teratoid rhabdoid tumorEnrichmentTP532.05
548Anaplastic astrocytomaEnrichmentTP532.05
549Alzheimer disease 3EnrichmentPSEN12.05
550Pick disease of brainEnrichmentPSEN12.05
551Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM172.05
552Burkitt lymphomaEnrichmentMYC2.05
553Galactosemia iiEnrichmentNR3C12.05
554Thumb deformityEnrichmentCREBBP2.05
555Ovarian germ cell cancerEnrichmentCBL2.05
556Roifman-chitayat syndromeEnrichmentPIK3CD2.05
557Noonan syndrome 8EnrichmentPIK3CA2.05
558Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.05
559Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.05
560Werner syndromeEnrichmentPTPN112.05
561Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.05
562Menke-hennekam syndrome 2EnrichmentEP3002.05
563Intravascular large b-cell lymphomaEnrichmentBCL22.05
564Rela fusion-positive ependymomaEnrichmentRELA2.05
565Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.05
566Senior-loken syndrome 7EnrichmentAKT32.05
567Immune system diseaseEnrichmentPIK3CD2.05
568Bardet-biedl syndrome 16EnrichmentAKT32.05
569Immunodeficiency 117EnrichmentIRF12.05
570Malignant germ cell tumor of ovaryEnrichmentCBL2.05
571Common variable immunodeficiency 12EnrichmentNFKB12.05
572Immunodeficiency 127EnrichmentTNF2.04
573Intermittent hydrarthrosisEnrichmentTNFRSF1A2.04
574Polycythemia veraEnrichmentJAK22.03
575Nuchal bleb, familialEnrichmentSOS12.03
576Dyskeratosis congenita, autosomal dominant 6EnrichmentMPL2.03
577Wieacker-wolff syndromeEnrichmentRASA12.03
578MicrocephalyEnrichmentABL1, CAMK2B, MAPK1, PAK32.03
579Spinocerebellar ataxia 29EnrichmentITPR12.01
580Pseudohypoparathyroidism, type iaEnrichmentGNAS2.01
581Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.01
582Histiocytoma, angiomatoid fibrousEnrichmentCREB12.01
583PseudopseudohypoparathyroidismEnrichmentGNAS2.01
584Bleeding disorder, platelet-type, 19EnrichmentPRKACG2.01
585Spermatogenic failure 17EnrichmentPLCZ12.01
586Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B2.01
587Usher syndrome, type ivEnrichmentPRKAR1A2.01
588AcrodysostosisEnrichmentPRKAR1A2.01
589PseudohypoparathyroidismEnrichmentGNAS2.01
590Body mass index quantitative trait locus 19EnrichmentADCY32.01
591Fibrolamellar carcinomaEnrichmentPRKACA2.01
592Ocular melanomaEnrichmentPLCB42.01
593Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B2.01
594Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.01
595Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS2.01
596Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB32.01
597Immunodeficiency, common variable, 10EnrichmentNFKB22.01
598Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, MYC1.99
599Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.96
600Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.96
601Cebalid syndromeEnrichmentMTOR1.95
602Smith-kingsmore syndromeEnrichmentMTOR1.95
603Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1EnrichmentTYROBP1.94
604Leprosy 1EnrichmentTLR61.94
605Congenital dyserythropoietic anemiaEnrichmentIRAK41.94
606Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.94
607ArthritisEnrichmentSYK1.94
608Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.94
609Vacterl with hydrocephalusEnrichmentPTEN1.94
610Juvenile polyposis of infancyEnrichmentPTEN1.94
611Congenital generalized lipodystrophyEnrichmentFOS1.93
612Hereditary ataxiaEnrichmentPRKCG1.93
613Newborn respiratory distress syndromeEnrichmentBRAF1.93
614Hemangiopericytoma, malignantEnrichmentSTAT61.92
615Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.92
616Cafe-au-lait spots, multipleEnrichmentNF11.92
617Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.92
618Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.92
619Aural atresia, congenitalEnrichmentFGFR21.92
620Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.92
621Chromosome 13q14 deletion syndromeEnrichmentRB11.92
622Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.92
623Fanconi anemia, complementation group sEnrichmentBRCA11.92
624Cardiac valvular dysplasia, x-linkedEnrichmentATM1.92
625Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF11.92
626Infantile myofibromatosisEnrichmentPDGFRB1.92
627Pancreatic cancer 4EnrichmentBRCA11.92
628Childhood hepatocellular carcinomaEnrichmentMET1.92
629Diffuse midline glioma, h3 k27m-mutantEnrichmentBRCA21.92
630Split hand-foot malformationEnrichmentFGFR21.92
631Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.92
632Papillary renal cell carcinomaEnrichmentMET1.92
633High grade gliomaEnrichmentATM1.92
634Fanconi anemia, complementation group d1EnrichmentBRCA21.92
635Bardet-biedl syndrome 9EnrichmentNF11.92
636T-cell prolymphocytic leukemiaEnrichmentATM1.92
637Mismatch repair cancer syndrome 3EnrichmentMSH61.92
638Interfrontal craniofaciosynostosisEnrichmentFGFR11.92
639Peritoneum cancerEnrichmentBRCA11.92
640Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.92
641Chronic eosinophilic leukemiaEnrichmentPDGFRA1.92
642B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.92
643Familial retinoblastomaEnrichmentRB11.92
644Neuroendocrine tumor of pancreasEnrichmentBRCA21.92
645Erythrocytosis, familial, 1EnrichmentJAK21.91
646Budd-chiari syndromeEnrichmentJAK21.91
647Gingival fibromatosisEnrichmentSOS11.91
648Dermatofibrosarcoma protuberansEnrichmentPDGFB1.91
649Angioma, tuftedEnrichmentKDR1.91
650Immune thrombocytopeniaEnrichmentSOCS11.89
651Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.89
652Isolated growth hormone deficiency, type ibEnrichmentGH11.89
653Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.89
654Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.89
655Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.87
656Autoimmune disease, multisystem, infantile-onset, 3EnrichmentCBLB1.87
657Pompe disease, infantile-onsetEnrichmentPIK3CA1.87
658Intraocular pressure quantitative trait locusEnrichmentCREBBP1.87
659Tricuspid valve insufficiencyEnrichmentPTPN111.87
660KeratoacanthomaEnrichmentPIK3CA1.87
661Psoriatic arthritisEnrichmentTNF1.86
662Hepatitis c virusEnrichmentIFNG1.86
663Tuberous sclerosis 2EnrichmentIFNG1.86
664Immunodeficiency 28EnrichmentIFNGR21.86
665Migraine without auraEnrichmentTNF1.86
666Niemann-pick disease, type c1EnrichmentSMPD11.83
667LymphomaEnrichmentTP531.83
668Niemann-pick diseaseEnrichmentSMPD11.83
669Histiocytoid hemangiomaEnrichmentFOS1.83
670Mccune-albright syndromeEnrichmentGNAS1.83
671Gillespie syndromeEnrichmentITPR11.83
672Nephrotic syndrome, type 3EnrichmentPLCE11.83
673Frontometaphyseal dysplasiaEnrichmentMAP3K71.83
674Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.83
675Immunodeficiency 44EnrichmentSTAT21.83
676Capillary malformations, congenitalEnrichmentRASA11.81
677Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.79
678Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.79
679Schwannomatosis 1EnrichmentNF21.79
680Robinow syndrome, autosomal dominant 3EnrichmentFZD21.79
681Periampullary adenomaEnrichmentAPC1.79
682Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.79
683Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.79
684B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.79
685TeratomaEnrichmentCTNNB11.79
686B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.79
687MalariaEnrichmentFCGR2B, IKBKG1.77
688Isolated growth hormone deficiency, type iiEnrichmentGH11.77
689Anemia, autoimmune hemolyticEnrichmentSOCS11.77
690Silver-russell syndrome due to a point mutationEnrichmentIGF21.77
691Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentTLR81.77
692Immunodeficiency, common variable, 2EnrichmentCR21.76
693Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.76
694Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK1.76
695Agammaglobulinemia 6, autosomal recessiveEnrichmentCD79B1.76
696Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.76
697Maturity-onset diabetes of the young, type 11EnrichmentBLK1.76
698Immunodeficiency 37EnrichmentBCL101.76
699Long qt syndrome 14EnrichmentCALM11.76
700Agammaglobulinemia, x-linkedEnrichmentBTK1.76
701Immunodeficiency, common variable, 7EnrichmentCR21.76
702Agammaglobulinemia 4EnrichmentBLNK1.76
703Agammaglobulinemia 6EnrichmentCD79B1.76
704Immunodeficiency 104, severe combinedEnrichmentPTPRC1.76
705Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.76
706Severe combined immunodeficiency, x-linkedEnrichmentIL2RG1.76
707Combined immunodeficiency, x-linkedEnrichmentIL2RG1.76
708Laryngeal squamous cell carcinomaEnrichmentPTEN1.76
709Wilms tumor 5EnrichmentBRAF1.76
710Barrett esophagusEnrichmentERBB21.76
711Dowling-degos diseaseEnrichmentPSENEN1.76
712Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.76
713Cerebrovascular diseaseEnrichmentPIK3CA1.75
714Familial cerebral cavernous malformationsEnrichmentPIK3CA1.75
715Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.74
716RetinoblastomaEnrichmentRB11.74
717Watson syndromeEnrichmentNF11.74
718Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.74
719Neurofibromatosis, familial spinalEnrichmentNF11.74
720Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.74
721Woolly hair, autosomal recessive 3EnrichmentRB11.74
722Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF11.74
723Tumor predisposition syndrome 1EnrichmentBRCA21.74
724Lynch syndrome 5EnrichmentMSH61.74
725Hypotrichosis 8EnrichmentRB11.74
726Koolen-de vries syndromeEnrichmentATM1.74
727Xanthinuria, type iiEnrichmentTSC21.74
728Brain cancerEnrichmentNF11.74
729Bap1 tumor predisposition syndromeEnrichmentBRCA21.74
730Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentMSH61.74
731Colon adenocarcinomaEnrichmentMSH61.74
732Renal cell carcinomaEnrichmentMET1.74
733Hepatitis bEnrichmentIFNGR11.74
734Cerebral malariaEnrichmentTNF1.74
735Klippel-trenaunay-weber syndromeEnrichmentRASA11.73
736Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.73
737Hemangioma, capillary infantileEnrichmentRASA11.73
738Basal cell carcinoma 1EnrichmentRASA11.73
739Chronic mucocutaneous candidiasisEnrichmentSTAT11.73
740AchondroplasiaEnrichmentFGFR31.73
741Larsen syndromeEnrichmentFGFR31.73
742Testicular germ cell cancerEnrichmentFGFR31.73
743Testicular cancerEnrichmentFGFR31.73
744Fanconi anemia, complementation group aEnrichmentBRCA1, BRCA21.72
745Pseudohypoparathyroidism, type ibEnrichmentGNAS1.71
746Auriculocondylar syndrome 1EnrichmentPLCB41.71
747Carney complex variantEnrichmentPRKAR1A1.71
748Spinocerebellar ataxia 15EnrichmentITPR11.71
749Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.71
750Developmental and epileptic encephalopathy 12EnrichmentPLCB11.71
751Immunodeficiency, common variable, 1EnrichmentNFKB21.71
752Pediatric systemic lupus erythematosusEnrichmentSTAT41.71
753ThrombocytopeniaEnrichmentPTPN11, SRC1.71
754Esophageal cancerEnrichmentTP531.69
755Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.67
756DementiaEnrichmentPSEN11.66
757Knobloch syndromeEnrichmentPAK21.65
758Von hippel-lindau syndromeEnrichmentCCND11.65
759Rubinstein-taybi syndrome 2EnrichmentEP3001.65
760Follicular lymphomaEnrichmentBCL21.65
761Aggressive systemic mastocytosisEnrichmentCBL1.65
762Vascular dementiaEnrichmentTNF1.64
763Idiopathic aplastic anemiaEnrichmentIFNG1.64
764Adenosine deaminase deficiencyEnrichmentJAK31.64
765Cerebral palsyEnrichmentBRCA2, PDGFRB1.64
766Dilated cardiomyopathyEnrichmentBRAF, RAF11.63
767Lennox-gastaut syndromeEnrichmentMAPK101.63
768Primary hyperparathyroidismEnrichmentCDKN1B1.63
769Gaucher disease, type iEnrichmentMSH61.62
770ChordomaEnrichmentBRCA21.62
771Mismatch repair cancer syndrome 1EnrichmentMSH61.62
772Middle aortic syndromeEnrichmentNF11.62
773Oculomotor apraxiaEnrichmentATM1.62
774Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.61
775Cenani-lenz syndactyly syndromeEnrichmentAPC1.61
776Anus, imperforateEnrichmentCTNNB11.61
777Exudative vitreoretinopathy 7EnrichmentCTNNB11.61
778Nail diseaseEnrichmentFZD61.61
779Cellular ependymomaEnrichmentNF21.61
780Tanycytic ependymomaEnrichmentNF21.61
781Papillary ependymomaEnrichmentNF21.61
782Spindle cell sarcomaEnrichmentNF21.61
783Clear cell ependymomaEnrichmentNF21.61
784Apc-associated polyposis conditionsEnrichmentAPC1.61
785Kaposi sarcomaEnrichmentIL61.61
786Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.61
787Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.61
788Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS1.60
789Mesothelioma, malignantEnrichmentBCL101.59
790Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.59
791Systemic lupus erythematosus 9EnrichmentCR21.59
792Agammaglobulinemia 1EnrichmentBTK1.59
793Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.58
794Inflammatory bowel disease 1EnrichmentPRKCQ1.58
795Ventricular septal defectEnrichmentBRAF1.58
796Patent ductus arteriosusEnrichmentPTPN111.57
797HypertrichosisEnrichmentCREBBP1.57
798Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentERBB4, PSEN11.57
799Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.56
800Knobloch syndrome 1EnrichmentPAK21.56
801Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.55
802Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.55
803Herpes simplex virus encephalitisEnrichmentTLR31.55
804Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.54
805Macrocephaly/autism syndromeEnrichmentPTEN1.54
806HemangiomaEnrichmentPTEN1.54
807Primary ovarian insufficiencyEnrichmentJAK2, PRLR1.54
808Stroke, ischemicEnrichmentPRKCH1.54
809Familial colorectal cancerEnrichmentTP531.54
810Melanoma, uvealEnrichmentPLCB41.53
811Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.53
812Silver-russell syndrome 1EnrichmentIGF21.53
813Long qt syndromeEnrichmentCALM1, CALM21.53
814GlioblastomaEnrichmentATM1.52
815HoloprosencephalyEnrichmentFGFR11.52
816Semantic dementiaEnrichmentPSEN11.51
817Rheumatoid arthritis, systemic juvenileEnrichmentIL61.51
818MegacolonEnrichmentAKT31.51
819Myelodysplastic syndromeEnrichmentTP531.50
820Robinow syndrome, autosomal dominant 1EnrichmentFZD21.49
821Pitt-hopkins syndromeEnrichmentTCF41.49
822PilomatrixomaEnrichmentCTNNB11.49
823Alazami syndromeEnrichmentCTNNB11.49
824Retinopathy of prematurityEnrichmentFZD41.49
825Autosomal dominant robinow syndromeEnrichmentFZD21.49
826Eyelid colobomaEnrichmentFZD51.49
827Full schwannomatosisEnrichmentNF21.49
828Benign ependymomaEnrichmentNF21.49
829Lens colobomaEnrichmentFZD51.49
830Gastroesophageal refluxEnrichmentRPS6KA31.47
831Isolated growth hormone deficiency, type iaEnrichmentGH11.47
832Orthostatic intoleranceEnrichmentRPS6KA31.47
833BrachydactylyEnrichmentGNAS1.47
834Kabuki syndrome 1EnrichmentBRCA21.45
835Split-hand/foot malformation 1EnrichmentFGFR21.45
836Holoprosencephaly 1EnrichmentFGFR11.45
837KeratoconusEnrichmentTSC11.45
838Clear cell renal cell carcinomaEnrichmentATM1.45
839Type 1 diabetes mellitusEnrichmentIL61.44
840Testicular germ cell tumorEnrichmentFGFR31.44
84146,xy disorder of sex developmentEnrichmentFGFR31.44
842Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.41
843Progressive non-fluent aphasiaEnrichmentPSEN11.41
844Behavioral variant of frontotemporal dementiaEnrichmentPSEN11.41
845HypertelorismEnrichmentFGFR2, PIK3CA1.40
846Aortic valve disease 1EnrichmentSOS11.40
847Charge syndromeEnrichmentEP3001.40
848Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.40
849Robinow syndrome, autosomal recessive 1EnrichmentFZD21.40
850Norrie diseaseEnrichmentFZD41.40
851Familial adenomatous polyposis 1EnrichmentAPC1.40
852Cholangitis, primary sclerosingEnrichmentTCF41.40
853Robinow syndrome, autosomal dominant 2EnrichmentFZD21.40
854Fuchs' endothelial dystrophyEnrichmentTCF41.40
855Persistent hyperplastic primary vitreousEnrichmentFZD41.40
856Coloboma of choroid and retinaEnrichmentFZD51.40
857OsteoporosisEnrichmentSRC1.39
858Seckel syndromeEnrichmentATR1.39
859Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.38
860Gastrointestinal stromal tumorEnrichmentPDGFRA1.38
861Polycystic kidney disease 1EnrichmentTSC21.38
862Nephrotic syndrome, type 1EnrichmentPLCE11.36
863Developmental and epileptic encephalopathy 14EnrichmentPLCB11.36
864Ciliary dyskinesia, primary, 3EnrichmentNFKB11.36
865PolymicrogyriaEnrichmentAKT31.36
866Aplastic anemiaEnrichmentIFNG1.35
867Moyamoya angiopathyEnrichmentABL11.34
868Ewing sarcomaEnrichmentETV41.33
869Arthrogryposis, distal, type 1aEnrichmentMET1.32
870Frontotemporal dementia 1EnrichmentPSEN11.32
871Coloboma of optic nerveEnrichmentFZD51.32
872Weyers acrofacial dysostosisEnrichmentCTNNB11.32
873Autosomal recessive robinow syndromeEnrichmentFZD21.32
874Multicystic kidney dysplasiaEnrichmentFZD31.32
875Multicystic dysplastic kidneyEnrichmentFZD31.32
876Pectus excavatumEnrichmentPTPN111.32
877Coronary heart disease 5EnrichmentIKBKG1.31
878AsthmaEnrichmentTNF1.31
879West syndromeEnrichmentPLCB1, TSC21.30
880Rheumatoid arthritisEnrichmentTLR11.30
881Glaucoma, primary open angleEnrichmentCARD101.29
882Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.29
883EpicanthusEnrichmentPTPN111.28
884Congenital long qt syndromeEnrichmentPTPN111.28
88546,xy complete gonadal dysgenesisEnrichmentMAP3K11.28
886Neurofibromatosis, type iEnrichmentNF11.27
887Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRCA21.27
888PolydactylyEnrichmentBRCA21.27
889Hypogonadotropic hypogonadismEnrichmentFGFR11.27
890Colonic benign neoplasmEnrichmentATM1.27
891Hypercholesterolemia, familial, 1EnrichmentGHR1.27
892Coats diseaseEnrichmentFZD41.25
893Alzheimer's diseaseEnrichmentPSEN11.25
894Congenital nervous system abnormalityEnrichmentCTNNB1, PTEN, TSC21.25
895Nervous system diseaseEnrichmentCTNNB1, PTEN, TSC21.25
896Omenn syndromeEnrichmentIL2RG1.25
897Meier-gorlin syndrome 1EnrichmentFGFR21.23
898Isolated tracheo-esophageal fistulaEnrichmentBRCA21.23
899Primary bone dysplasiaEnrichmentFGFR31.22
900Heart diseaseEnrichmentCREBBP1.21
901Immune deficiency diseaseEnrichmentSYK1.21
902Multiple sclerosisEnrichmentTNFRSF1A1.21
903Combined immunodeficiencyEnrichmentIL2RG1.21
904IchthyosisEnrichmentIL2RB1.21
905Combined t cell and b cell immunodeficiencyEnrichmentIL2RG1.21
906Combined t and b cell immunodeficiencyEnrichmentIL2RG1.21
907Familial hypercholesterolemiaEnrichmentGHR1.21
908Leukemia, acute lymphoblasticEnrichmentCDKN2A1.19
909Polydactyly, postaxial, type a1EnrichmentEP3001.18
910Corpus callosum, agenesis ofEnrichmentCREBBP1.18
911Isolated corpus callosum agenesisEnrichmentCREBBP1.18
912Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.18
913Diamond-blackfan anemia 1EnrichmentTP531.18
914OsteochondrodysplasiaEnrichmentFGFR31.18
915Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.17
916Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.16
917Septooptic dysplasiaEnrichmentFGFR11.15
918Anterior segment dysgenesisEnrichmentITPR11.14
919Renal hypodysplasia/aplasia 3EnrichmentFGFR31.14
920Alzheimer disease, familial, 1EnrichmentPSEN11.14
921Beckwith-wiedemann syndromeEnrichmentIGF21.13
922Patent foramen ovaleEnrichmentPTPN111.11
923Cat eye syndromeEnrichmentFZD51.10
924Human immunodeficiency virus type 1EnrichmentIFNG1.10
925Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.09
926PheochromocytomaEnrichmentNF11.09
927Periventricular nodular heterotopiaEnrichmentBRCA11.09
928Cleft lip/palateEnrichmentPDGFRA1.09
929AchromatopsiaEnrichmentATF61.08
930Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.06
931Kidney diseaseEnrichmentTSC11.06
932Microform holoprosencephalyEnrichmentFGFR11.03
933Lobar holoprosencephalyEnrichmentFGFR11.03
934Familial hypertrophic cardiomyopathyEnrichmentRAF11.03
935Skin diseaseEnrichmentNCSTN1.03
936Focal segmental glomerulosclerosisEnrichmentPLCE11.03
937Left ventricular noncompactionEnrichmentRAF11.01
938Diamond-blackfan anemiaEnrichmentTP531.00
939Microphthalmia/coloboma 12EnrichmentFZD50.99
940Stereotypic movement disorderEnrichmentTCF40.99
941Tooth agenesisEnrichmentTGFA0.99
942Semilobar holoprosencephalyEnrichmentFGFR10.99
943Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.99
944Autoinflammatory diseaseEnrichmentTNFRSF1A0.98
945Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET0.98
946Esophageal atresia/tracheoesophageal fistulaEnrichmentBRCA20.96
947Cardiomyopathy, dilated, 1aEnrichmentNFATC20.94
948StrabismusEnrichmentPTPN110.94
949Coloboma of maculaEnrichmentFZD50.94
950Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentNF10.92
951Kallmann syndromeEnrichmentFGFR10.89
952Polycystic liver diseaseEnrichmentCTNNB10.88
953Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.88
954Sudden infant death syndromeEnrichmentCALM20.86
955Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.84
956Tetralogy of fallotEnrichmentKDR0.83
957Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.81
958Severe covid-19EnrichmentJAK30.81
959DystoniaEnrichmentCAMK2B0.80
960Maturity-onset diabetes of the youngEnrichmentBLK0.79
961Hypertrophic cardiomyopathyEnrichmentPTPN110.75
962Primary autosomal recessive microcephalyEnrichmentCDK60.75
963Connective tissue diseaseEnrichmentFGFR30.74
964Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.74
965CakutEnrichmentETV40.73
966Centralopathic epilepsyEnrichmentPLCB10.72
967Nephrotic syndromeEnrichmentPLCE10.72
968Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.65
969Spastic ataxiaEnrichmentITPR10.64
970Sensorineural hearing lossEnrichmentHGF0.59
971AutismEnrichmentCREBBP0.56
972Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA0.55
973Distal arthrogryposisEnrichmentFZD30.53
974Primary ciliary dyskinesiaEnrichmentPRKAR1B0.50
975Cone-rod dystrophy 2EnrichmentATF60.35
976Complex neurodevelopmental disorderEnrichmentPAK30.30
977Hereditary retinal dystrophyEnrichmentFZD40.04
978Fundus dystrophyEnrichmentFZD40.04

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