fMLP Pathway

Pathway network for the fMLP Pathway SuperPath

Sources:
  • QIAGEN
  • GeneGo (Thomson Reuters)

Pathways in the fMLP Pathway SuperPath

#NameSourceGenes
1fMLP PathwayQIAGEN
2Huntington's Disease PathwayQIAGEN
3CXCR4 PathwayQIAGEN
4Signal transduction Activation of PKC via G-Protein coupled receptorGeneGo (Thomson Reuters)
5Internalin PathwayQIAGEN

Gene overlap in member pathways for fMLP Pathway SuperPath

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

Disorders associated with fMLP Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentCBL, HRAS, KRAS, MRAS, NRAS, RRAS2, SOS1, SOS211.95
2Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS210.82
3Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF19.23
4Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS17.05
5Colorectal cancerEnrichmentAKT1, CDH1, CTNNA1, CTNNB1, MET, NRAS, PIK3R16.74
6Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, RRAS6.64
7Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.38
8Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, CTNNA1, KRAS6.38
9Lung non-small cell carcinomaEnrichmentHRAS, KRAS, MAP2K1, NRAS6.09
10Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K25.84
11Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K25.84
12Nevus, epidermalEnrichmentHRAS, KRAS, NRAS5.44
13Melanoma, uvealEnrichmentGNA11, GNAQ, PLCB45.30
14Ovarian cancerEnrichmentAKT1, CDH1, CTNNB1, KRAS, MET, RRAS25.07
15Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.86
16Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF14.70
17Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.65
18Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET4.65
19Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.65
20Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR34.42
21Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.39
22Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ4.39
23Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.17
24Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB94.01
25Anastomosing haemangiomaEnrichmentGNA11, GNAQ3.92
26Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.87
27Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC423.87
28Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS3.81
29Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R13.81
30Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB83.53
31Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB83.53
32Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.51
33Achromatopsia 4EnrichmentGNAI3, GNAT23.51
34Breast adenocarcinomaEnrichmentAKT1, KRAS3.48
35Typical nemaline myopathyEnrichmentACTA1, CFL23.48
36Bladder cancerEnrichmentCTNNB1, HRAS, KRAS3.45
37Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS3.45
38Capillary malformations, congenitalEnrichmentGNA11, GNAQ3.40
39Non-immune hydrops fetalisEnrichmentACTA1, HRAS, KRAS3.37
40Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS3.33
41Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.33
42Gallbladder cancerEnrichmentCTNNB1, KRAS3.33
43Follicular thyroid carcinomaEnrichmentHRAS, NRAS3.33
44Lung cancerEnrichmentACTA2, KRAS, MET3.33
45Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.23
46Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.23
47Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.08
48West syndromeEnrichmentGNAO1, GRIN1, GRIN2B, PLCB13.03
49Insulin-like growth factor iEnrichmentIGF1, IGF1R3.02
50Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.97
51Pilomyxoid astrocytomaEnrichmentKRAS, RAF12.97
52Hereditary breast carcinomaEnrichmentAKT1, CDH1, KRAS2.92
53MicrocephalyEnrichmentGNAO1, GNB1, GRIN2B, HDAC8, IGF1R, PSMC32.85
54Arteriovenous malformationEnrichmentHRAS, MAP2K12.74
55Lung cancer susceptibility 3EnrichmentACTA2, KRAS2.70
56Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K12.65
57Myeloma, multipleEnrichmentCREBBP, NCOR2, PIK3R2, TP532.64
58RhabdomyosarcomaEnrichmentCBL, HRAS2.59
59Adult hepatocellular carcinomaEnrichmentCASP8, TP532.47
60Primary hyperaldosteronismEnrichmentGNAS, TP532.47
61PolymicrogyriaEnrichmentAKT3, PSMC32.38
62Centronuclear myopathyEnrichmentACTA1, CFL22.35
63Proteus syndromeEnrichmentAKT12.32
64Baraitser-winter syndrome 1EnrichmentACTB2.32
65Oculoectodermal syndromeEnrichmentKRAS2.32
66Intellectual developmental disorder, x-linked 30EnrichmentPAK32.32
67Incontinentia pigmentiEnrichmentIKBKG2.32
68Developmental and epileptic encephalopathy 8EnrichmentARHGEF92.32
69Deafness, autosomal recessive 26EnrichmentGAB12.32
70Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.32
71Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP2.32
72Noonan syndrome 4EnrichmentSOS12.32
73Macular dystrophy, patterned, 2EnrichmentCTNNA12.32
74Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.32
75Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.32
76Melanosis, neurocutaneousEnrichmentNRAS2.32
77Noonan syndrome 9EnrichmentSOS22.32
78Myopathy, scapulohumeroperonealEnrichmentACTA12.32
79Noonan syndrome 6EnrichmentNRAS2.32
80Fetal encasement syndromeEnrichmentCHUK2.32
81Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.32
82Immunodeficiency 62EnrichmentARHGEF12.32
83Noonan syndrome 11EnrichmentMRAS2.32
84Naxos diseaseEnrichmentJUP2.32
85Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.32
86Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF12.32
87Immunodeficiency 15bEnrichmentIKBKB2.32
88Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF22.32
89Immunodeficiency 15aEnrichmentIKBKB2.32
90Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP2.32
91Knobloch syndrome 2EnrichmentPAK22.32
92Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC32.32
93Short syndromeEnrichmentPIK3R12.32
94Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.32
95Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.32
96Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.32
97Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.32
98Osteofibrous dysplasiaEnrichmentMET2.32
99Intellectual developmental disorder, x-linked 46EnrichmentARHGEF62.32
100Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.32
101Nemaline myopathy 7EnrichmentCFL22.32
102Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF102.32
103Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.32
104Deafness, autosomal recessive 97EnrichmentMET2.32
105Becker nevus syndromeEnrichmentACTB2.32
106Dystonia-deafness syndrome 1EnrichmentACTB2.32
107Autism 9EnrichmentMET2.32
108Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.32
109Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.32
110Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.32
111Cowden syndrome 6EnrichmentAKT12.32
112Autosomal dominant familial visceral neuropathyEnrichmentACTG22.32
113Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.32
114Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF152.32
115Takenouchi-kosaki syndromeEnrichmentCDC422.32
116Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.32
117Bartsocas-papas syndrome 2EnrichmentCHUK2.32
118Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.32
119Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.32
120Adenoid ameloblastomaEnrichmentCTNNB12.32
121Arthrogryposis, distal, type 11EnrichmentMET2.32
122Baraitser-winter syndromeEnrichmentACTB2.32
123Breast lobular carcinomaEnrichmentCDH12.32
124Congenital pulmonary airway malformationEnrichmentKRAS2.32
125Zebra body myopathyEnrichmentACTA12.32
126Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.32
127Congenital smooth muscle hamartomaEnrichmentACTB2.32
128Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.32
129Nocarh syndromeEnrichmentCDC422.32
130Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.32
131Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.32
132Phakomatosis pigmentokeratoticaEnrichmentHRAS2.32
133Actin-accumulation myopathyEnrichmentACTA12.32
134Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.32
135Myopathic intestinal pseudoobstructionEnrichmentACTG22.32
136Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.32
137Neurocutaneous melanocytosisEnrichmentNRAS2.32
138Microcystic stromal tumorEnrichmentCTNNB12.32
139Actg2 visceral myopathyEnrichmentACTG22.32
140Hepatocellular carcinomaEnrichmentCTNNB1, MET2.31
141Myelodysplastic syndromeEnrichmentGNB1, TP532.29
142Breast cancerEnrichmentAKT1, CDH1, KRAS2.26
143Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.19
144Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.19
145Paget disease of bone 3EnrichmentSQSTM12.19
146Noonan syndrome 5EnrichmentRAF12.19
147Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL32.19
148Melorheostosis, isolatedEnrichmentMAP2K12.19
149Cardiomyopathy, dilated, 1nnEnrichmentRAF12.19
150Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.19
151Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.19
152Sturge-weber syndromeEnrichmentGNAQ2.19
153Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.19
154Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM12.19
155Noonan syndrome 13EnrichmentMAPK12.19
156Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.19
157Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM12.19
158Immunodeficiency 92EnrichmentREL2.19
159Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.19
160Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.19
161Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.19
162Auriculocondylar syndrome 2aEnrichmentPLCB42.19
163Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.19
164Atrial fibrillation, familial, 18EnrichmentMYL42.19
165Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.19
166Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A2.19
167Spinocerebellar ataxia 14EnrichmentPRKCG2.19
168MelorheostosisEnrichmentMAP2K12.19
169Leopard syndrome 2EnrichmentRAF12.19
170Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.19
171Long qt syndrome 16EnrichmentCALM32.19
172Hypocalcemia, autosomal dominant 2EnrichmentGNA112.19
173Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.19
174Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.19
175Thrombocytopenia 6EnrichmentSRC2.19
176Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.19
177Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.19
178Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.19
179Immunodeficiency 53EnrichmentRELB2.19
180Sick sinus syndrome 4EnrichmentGNB22.19
181Congenital myopathy 14EnrichmentMYL12.19
182Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK12.19
183TrigonitisEnrichmentRAF12.19
184Auriculocondylar syndrome 2bEnrichmentPLCB42.19
185Long qt syndrome 15EnrichmentCALM22.19
186Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.19
1875q14.3 microdeletion syndromeEnrichmentMEF2C2.19
188Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.19
189Mef2c-related disorderEnrichmentMEF2C2.19
190Phakomatosis cesiomarmorataEnrichmentGNA112.19
191Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.19
192Hydrops fetalis, nonimmuneEnrichmentACTA1, HRAS2.17
193Thrombocytopenia 1EnrichmentWAS2.14
194Pseudohypoparathyroidism, type icEnrichmentGNAS2.14
195Osseous heteroplasia, progressiveEnrichmentGNAS2.14
196Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.14
197Ventricular tachycardia, familialEnrichmentGNAI22.14
198Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.14
199Pituitary adenoma 3, multiple typesEnrichmentGNAS2.14
200Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.14
201Developmental and epileptic encephalopathy 17EnrichmentGNAO12.14
202Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT12.14
203Dystonia 25EnrichmentGNAL2.14
204Night blindness, congenital stationary, type 1gEnrichmentGNAT12.14
205Disorders of gnas inactivationEnrichmentGNAS2.14
206Was-related disordersEnrichmentWAS2.14
207Monostotic fibrous dysplasiaEnrichmentGNAS2.14
208Gnao1-related disorderEnrichmentGNAO12.14
209Kaposiform hemangioendotheliomaEnrichmentGNA142.14
210Mazabraud syndromeEnrichmentGNAS2.14
211Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT52.14
212Whim syndrome 1EnrichmentCXCR42.14
213T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.14
214Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.14
215Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.14
216Cerebral cavernous malformations 5EnrichmentMAP3K32.14
217Verrucous hemangiomaEnrichmentMAP3K32.14
218Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.14
219Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A, PLCB12.11
220Complex neurodevelopmental disorderEnrichmentDLG4, GNB2, GRIN2B, HTT, TAF42.10
221Centralopathic epilepsyEnrichmentGRIN1, GRIN2A, PLCB12.05
222Rare genetic intellectual disabilityEnrichmentCREBBP, GNAO12.02
223Blepharocheilodontic syndrome 1EnrichmentCDH12.02
224Fibromatosis, gingival, 1EnrichmentSOS12.02
225Costello syndromeEnrichmentHRAS2.02
226Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.02
227Ovarian germ cell cancerEnrichmentCBL2.02
228Immunodeficiency 33EnrichmentIKBKG2.02
229Pulmonic stenosisEnrichmentSOS12.02
230Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.02
231Aortic aneurysm, familial thoracic 2EnrichmentACTA22.02
232Deafness, autosomal dominant 20EnrichmentACTG12.02
233Smooth muscle dysfunction syndromeEnrichmentACTA22.02
234Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.02
235Aortic aneurysm, familial thoracic 6EnrichmentACTA22.02
236Baraitser-winter syndrome 2EnrichmentACTG12.02
237Moyamoya disease 5EnrichmentACTA22.02
238Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.02
239Noonan syndrome 12EnrichmentRRAS22.02
240Papillary renal cell carcinomaEnrichmentMET2.02
241Immune system diseaseEnrichmentCDC422.02
242Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.02
243Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.02
244Malignant germ cell tumor of ovaryEnrichmentCBL2.02
245TeratomaEnrichmentCTNNB12.02
246Intestinal obstructionEnrichmentACTG22.02
247Wooly hair nevusEnrichmentHRAS2.02
248Perry syndromeEnrichmentDCTN12.00
249Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.00
250Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC62.00
251Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A2.00
252Caspase 8 deficiencyEnrichmentCASP82.00
253Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD12.00
254Developmental and epileptic encephalopathy 27EnrichmentGRIN2B2.00
255Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.00
256Orofaciodigital syndrome xviiiEnrichmentIFT572.00
257Auriculocondylar syndrome 4EnrichmentHDAC92.00
258Cornelia de lange syndrome 5EnrichmentHDAC82.00
259Bone marrow failure syndrome 5EnrichmentTP532.00
260Papilloma of choroid plexusEnrichmentTP532.00
261Basal cell carcinoma 7EnrichmentTP532.00
262Anaplastic thyroid carcinomaEnrichmentTP532.00
263Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC32.00
264Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.00
265Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN12.00
266Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN12.00
267Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B2.00
268Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.00
269Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB92.00
270Developmental and epileptic encephalopathy 101EnrichmentGRIN12.00
271Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN12.00
272Ductal carcinoma in situEnrichmentTP532.00
273Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.00
274Lopes-maciel-rodan syndromeEnrichmentHTT2.00
275Menke-hennekam syndrome 1EnrichmentCREBBP2.00
276Thyroid gland undifferentiated carcinomaEnrichmentTP532.00
277Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.00
278Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.00
279Capillary hemangiomaEnrichmentAKT32.00
280Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.00
281Chromosome 15q24 deletion syndromeEnrichmentSIN3A2.00
282Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B2.00
283Landau-kleffner syndromeEnrichmentGRIN2A2.00
284Choroid plexus cancerEnrichmentTP532.00
285Menke-hennekam syndromeEnrichmentCREBBP2.00
286Pleomorphic xanthoastrocytomaEnrichmentTP532.00
287Intellectual disability, autosomal dominant 8EnrichmentGRIN12.00
288Juvenile huntington diseaseEnrichmentHTT2.00
289Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A2.00
290Grin2a-related disordersEnrichmentGRIN2A2.00
291Akt2-related familial partial lipodystrophyEnrichmentAKT22.00
292Cardiomyopathy, familial hypertrophic, 1EnrichmentMYLK2, RAF11.99
293Congenital stationary night blindnessEnrichmentGNAT1, GNB31.93
294Spinocerebellar ataxia 29EnrichmentITPR11.89
295Cutis marmorata telangiectatica congenitaEnrichmentGNA111.89
296Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.89
297Welander distal myopathyEnrichmentSQSTM11.89
298Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.89
299Night blindness, congenital stationary, type 1hEnrichmentGNB31.89
300Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.89
301Immunodeficiency, common variable, 10EnrichmentNFKB21.89
302Long qt syndrome 14EnrichmentCALM11.89
303Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.89
304Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.89
305Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.89
306Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.89
307Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.89
308Rela fusion-positive ependymomaEnrichmentRELA1.89
309Autosomal dominant hypocalcemiaEnrichmentGNA111.89
310Ocular melanomaEnrichmentPLCB41.89
311Paget's disease of boneEnrichmentSQSTM11.89
312Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.89
313Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.89
314Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.89
315Common variable immunodeficiency 12EnrichmentNFKB11.89
316Tafro syndromeEnrichmentMAP2K21.89
317Cerebral visual impairmentEnrichmentGNB11.89
318Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM11.89
319Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, GRIN1, GRIN2B1.87
320Early infantile developmental and epileptic encephalopathyEnrichmentGNAO1, GRIN11.87
321Desmoid disease, hereditaryEnrichmentCTNNB11.84
322Nuchal bleb, familialEnrichmentSOS11.84
323Epidermolysis bullosa, lethal acantholyticEnrichmentJUP1.84
324Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.84
325Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.84
326Anus, imperforateEnrichmentCTNNB11.84
327Exudative vitreoretinopathy 7EnrichmentCTNNB11.84
328Desmoid tumorEnrichmentCTNNB11.84
329Immunodeficiency 14EnrichmentPIK3R11.84
330SpermatocytomaEnrichmentHRAS1.84
331Butterfly-shaped pigment dystrophyEnrichmentCTNNA11.84
332Renal cell carcinomaEnrichmentMET1.84
333Pseudohypoparathyroidism, type iaEnrichmentGNAS1.84
334Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.84
335Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.84
336Neutropenia, severe congenital, x-linkedEnrichmentWAS1.84
337Wiskott-aldrich syndromeEnrichmentWAS1.84
338Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.84
339PseudopseudohypoparathyroidismEnrichmentGNAS1.84
340Angioma, tuftedEnrichmentGNA141.84
341PseudohypoparathyroidismEnrichmentGNAS1.84
342HypopituitarismEnrichmentGNAI21.84
343Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.84
344Scoliosis, isolated 1EnrichmentMAPK71.84
345Diffuse large b-cell lymphomaEnrichmentCREBBP, TP531.82
346Leukemia, acute myeloidEnrichmentKRAS, NRAS1.80
347Long qt syndromeEnrichmentCALM1, CALM21.78
348Gastric cancerEnrichmentCDH1, KRAS1.74
349Familial hypertrophic cardiomyopathyEnrichmentMYL3, RAF11.72
350Nemaline myopathy 2EnrichmentACTA11.72
351Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.72
352Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA11.72
353Autoimmune lymphoproliferative syndromeEnrichmentACTA21.72
354Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL1.72
355PilomatrixomaEnrichmentCTNNB11.72
356Aminoacylase 1 deficiencyEnrichmentACTB1.72
357Alazami syndromeEnrichmentCTNNB11.72
358Lung sarcomatoid carcinomaEnrichmentKRAS1.72
359CraniopharyngiomaEnrichmentCTNNB11.72
360Pilocytic astrocytomaEnrichmentKRAS1.72
361Epidermolytic nevusEnrichmentHRAS1.72
362Knobloch syndromeEnrichmentPAK21.72
363Intermediate nemaline myopathyEnrichmentACTA11.72
364Gingival fibromatosisEnrichmentSOS11.72
365Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.72
366Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.72
367Gillespie syndromeEnrichmentITPR11.72
368Nasopharyngeal carcinomaEnrichmentNFKBIA1.72
369Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.72
370T-cell acute lymphoblastic leukemiaEnrichmentABL11.72
371Adrenocortical carcinoma, hereditaryEnrichmentTP531.70
372Thumb deformityEnrichmentCREBBP1.70
373Cervical cancerEnrichmentTP531.70
374Spermatogenic failure 17EnrichmentPLCZ11.70
375Lymphoma, hodgkin, classicEnrichmentTP531.70
376Syndactyly, type iiiEnrichmentHDAC81.70
377Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB101.70
378Intellectual developmental disorder, autosomal dominant 73EnrichmentTAF41.70
379Immunodeficiency 121 with autoinflammationEnrichmentPSMB101.70
380Birk-aharoni syndromeEnrichmentPSMC11.70
381Microcephaly 21, primary, autosomal recessiveEnrichmentGAPDH1.70
382Wilson-turner syndromeEnrichmentHDAC81.70
383Bilateral generalized polymicrogyriaEnrichmentGRIN11.70
384Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.70
385Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.70
386Senior-loken syndrome 7EnrichmentAKT31.70
387Developmental and epileptic encephalopathy 46EnrichmentGRIN2D1.70
388Vulto-van silfhout-de vries syndromeEnrichmentDLG41.70
389Congenital fibrosarcomaEnrichmentTP531.70
390Li-fraumeni syndrome 1EnrichmentTP531.70
391SarcomaEnrichmentTP531.70
392Witteveen-kolk syndromeEnrichmentSIN3A1.70
393Cervix carcinomaEnrichmentTP531.70
394Hodgkin's lymphomaEnrichmentTP531.70
395Bardet-biedl syndrome 16EnrichmentAKT31.70
396Distal hereditary motor neuropathy type 7EnrichmentDCTN11.70
397Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.70
398Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.70
399Pleomorphic rhabdomyosarcomaEnrichmentTP531.70
400Epilepsy-aphasia spectrumEnrichmentGRIN2A1.70
401Submucosal cleft palateEnrichmentUBB1.70
402Cleft hard palateEnrichmentUBB1.70
403Mccune-albright syndromeEnrichmentGNAS1.67
404Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF11.67
405Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.67
406Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.67
407Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.67
408Hyper ige syndromeEnrichmentSTAT31.67
409ScoliosisEnrichmentCREBBP, GRIN2B1.63
410Visceral myopathy 1EnrichmentACTG21.62
411Exudative vitreoretinopathy 1EnrichmentCTNNB11.62
412Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.62
413Congenital myopathy 3 with rigid spineEnrichmentACTA11.62
414Knobloch syndrome 1EnrichmentPAK21.62
415Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.62
416Myeloproliferative neoplasmEnrichmentCBL1.62
417Coloboma of choroid and retinaEnrichmentACTG11.62
418Aggressive systemic mastocytosisEnrichmentCBL1.62
419Severe congenital nemaline myopathyEnrichmentACTA11.62
420Inherited cancer-predisposing syndromeEnrichmentCDH1, CTNNA1, MET1.60
421Developmental and epileptic encephalopathy 1EnrichmentGNAO1, GRIN11.60
422Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.59
423Paget disease of bone 2, early-onsetEnrichmentSQSTM11.59
424Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.59
425Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.59
426Immunodeficiency, common variable, 1EnrichmentNFKB21.59
427Spinocerebellar ataxia 15EnrichmentITPR11.59
428Developmental and epileptic encephalopathy 12EnrichmentPLCB11.59
429Hereditary ataxiaEnrichmentPRKCG1.59
430Noonan syndrome with multiple lentiginesEnrichmentRAF11.59
431Paget's disease of bone 2EnrichmentSQSTM11.59
432Familial sick sinus syndromeEnrichmentGNB21.59
433DystoniaEnrichmentGNAL, GNB11.58
434Weyers acrofacial dysostosisEnrichmentCTNNB11.55
435Moyamoya disease 1EnrichmentACTA21.55
436Intestinal pseudo-obstructionEnrichmentACTG21.55
437Adrenocortical carcinomaEnrichmentCTNNB11.55
438Lung squamous cell carcinomaEnrichmentKRAS1.55
439Cleft lip with or without cleft palateEnrichmentCDH11.55
440Hereditary breast ovarian cancer syndromeEnrichmentCTNNA1, KRAS1.54
441Granulomatous disease, chronic, x-linkedEnrichmentNCF11.54
442Pseudohypoparathyroidism, type ibEnrichmentGNAS1.54
443Congenital generalized lipodystrophyEnrichmentFOS1.54
444Uvula, bifidEnrichmentUBB1.53
445Heart defects, congenital, and other congenital anomaliesEnrichmentDLG41.53
446Osteogenic sarcomaEnrichmentTP531.53
447Cleft soft palateEnrichmentUBB1.53
448Nephrotic syndrome, type 3EnrichmentPLCE11.53
449Auditory neuropathy and optic atrophyEnrichmentGRIN2C1.53
450Tethered spinal cord syndromeEnrichmentCREBBP1.53
451Intellectual developmental disorder, autosomal dominant 62EnrichmentDLG41.53
452Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizuresEnrichmentDLG41.53
453Atypical teratoid rhabdoid tumorEnrichmentTP531.53
454Anaplastic astrocytomaEnrichmentTP531.53
455Squamous cell carcinomaEnrichmentTP531.53
456AdenocarcinomaEnrichmentTP531.53
457Intraocular pressure quantitative trait locusEnrichmentCREBBP1.53
458Bone osteosarcomaEnrichmentTP531.53
459Dlg4-related synaptopathyEnrichmentDLG41.53
460Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.53
461Thyroid hemiagenesisEnrichmentPSMD31.53
462Autism spectrum disorderEnrichmentGNB1, MAP2K1, MEF2C1.48
463Renal cell carcinoma, papillary, 1EnrichmentMET1.48
464Childhood-onset nemaline myopathyEnrichmentACTA11.48
465Overgrowth syndromeEnrichmentPIK3R11.48
466Night blindness, congenital stationary, type 1cEnrichmentGNAT11.45
467Histiocytoid hemangiomaEnrichmentFOS1.45
468Arthrogryposis, distal, type 1aEnrichmentMET1.42
469Exudative vitreoretinopathyEnrichmentCTNNB11.42
470Mosaic variegated aneuploidy syndromeEnrichmentPAK61.42
471Klippel-trenaunay-weber syndromeEnrichmentGNAQ1.42
472Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK11.42
473Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.42
474Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.42
475Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK11.42
476Huntington diseaseEnrichmentHTT1.41
477Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDLG41.41
478Small cell cancer of the lungEnrichmentTP531.41
479Thyroid cancer, nonmedullary, 1EnrichmentTP531.41
480AstigmatismEnrichmentGRIN2B1.41
481Embryonal rhabdomyosarcomaEnrichmentTP531.41
482Coronary heart disease 5EnrichmentIKBKG1.37
483Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.37
484Cowden syndromeEnrichmentAKT11.37
485MyelofibrosisEnrichmentSRC1.36
486Moyamoya angiopathyEnrichmentABL11.36
487B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL11.36
488Cat eye syndromeEnrichmentACTG11.33
489Nemaline myopathyEnrichmentACTA11.33
490Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.33
491Rhabdomyosarcoma 2EnrichmentTP531.31
492LymphomaEnrichmentTP531.31
493Acute megakaryocytic leukemiaEnrichmentTP531.31
494HemimegalencephalyEnrichmentAKT31.31
495Genetic motor neuron diseaseEnrichmentDCTN11.31
496Sleep disorderEnrichmentGRIN2B1.31
497BrachydactylyEnrichmentGNAS1.31
498Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.30
499HypothyroidismEnrichmentGNB11.30
500Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C, SQSTM11.27
501MeningiomaEnrichmentAKT11.25
502Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentJUP1.25
503Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentJUP1.25
504Lip and oral cavity carcinomaEnrichmentHRAS1.25
505Dilated cardiomyopathyEnrichmentACTA1, JUP1.25
506Inflammatory bowel disease 1EnrichmentPRKCQ1.25
507Developmental and epileptic encephalopathy 14EnrichmentPLCB11.25
508Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK1.25
509Behavioral variant of frontotemporal dementiaEnrichmentSQSTM11.25
510Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.25
511Choreatic diseaseEnrichmentGNAO11.25
512Lennox-gastaut syndromeEnrichmentMAPK101.25
513Permanent neonatal diabetes mellitusEnrichmentSTAT31.25
514Cerebral palsyEnrichmentGNB1, GRIN2B1.24
515Developmental dysplasia of the hip 1EnrichmentPSMC31.23
516Li-fraumeni syndromeEnrichmentTP531.23
517Rubinstein-taybi syndrome 1EnrichmentCREBBP1.23
518Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP1.23
519Patent ductus arteriosusEnrichmentPSMC31.23
520HypertrichosisEnrichmentCREBBP1.23
521EpilepsyEnrichmentGRIN2A, GRIN2B1.22
522Aortic valve disease 1EnrichmentSOS11.22
523Protein-deficiency anemiaEnrichmentNRAS1.22
524Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM11.21
525Stroke, ischemicEnrichmentPRKCH1.21
526Ciliary dyskinesia, primary, 3EnrichmentNFKB11.21
527Cardiomyopathy, familial hypertrophic, 4EnrichmentNCF11.20
528Chronic granulomatous diseaseEnrichmentNCF11.20
529MedulloblastomaEnrichmentCTNNB11.19
530Cleft lip/palateEnrichmentCDH11.19
531Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentJUP1.19
53246,xy partial gonadal dysgenesisEnrichmentSOS11.19
533Esophageal cancerEnrichmentTP531.17
534Squamous cell carcinoma, head and neckEnrichmentTP531.17
535Essential thrombocythemiaEnrichmentTP531.17
536MegacolonEnrichmentAKT31.17
537Immune deficiency diseaseEnrichmentRIPK11.17
538Leukemia, acute lymphoblasticEnrichmentGNB11.17
539Specific learning disabilityEnrichmentMAPK11.17
540Renal cell carcinoma, nonpapillaryEnrichmentMET1.16
541Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.16
542Lynch syndromeEnrichmentKRAS1.16
543AchromatopsiaEnrichmentGNAT21.16
544Wolff-parkinson-white syndromeEnrichmentJUP1.13
545Arrhythmogenic right ventricular cardiomyopathyEnrichmentJUP1.13
546Congenital long qt syndromeEnrichmentITPR31.13
547Movement diseaseEnrichmentGNAO11.12
548Glioma susceptibility 1EnrichmentTP531.11
549Fanconi anemia, complementation group cEnrichmentHDAC81.11
550Lymphoma, non-hodgkin, familialEnrichmentTP531.11
551Polycystic liver diseaseEnrichmentCTNNB11.11
552Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.11
553Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.10
554Neuromuscular diseaseEnrichmentACTA11.08
555Cornelia de lange syndrome 1EnrichmentHDAC81.06
556Nephrotic syndrome, type 1EnrichmentPLCE11.06
557Cornelia de lange syndromeEnrichmentHDAC81.06
558Multiple sclerosisEnrichmentITPR11.06
559OsteoporosisEnrichmentSRC1.06
560Aortic aneurysm, familial thoracic 1EnrichmentMYLK1.06
561Heart diseaseEnrichmentABL11.06
562Arteriovenous malformations of the brainEnrichmentKRAS1.06
563Congenital myopathyEnrichmentACTA11.06
564Congenital nervous system abnormalityEnrichmentCREBBP, GNAO1, GNB51.05
565Nervous system diseaseEnrichmentCREBBP, GNAO1, GNB51.05
566Acute promyelocytic leukemiaEnrichmentSTAT31.05
567Williams-beuren syndromeEnrichmentLIMK11.04
568CraniosynostosisEnrichmentCTNNA11.04
569Anterior segment dysgenesisEnrichmentITPR11.04
570Amyotrophic lateral sclerosis 1EnrichmentDCTN11.02
571Leukemia, chronic lymphocyticEnrichmentTP531.02
572Omenn syndromeEnrichmentPSMB101.02
573Familial colorectal cancerEnrichmentTP531.02
574Endometrial cancerEnrichmentCDH11.02
575LissencephalyEnrichmentACTG11.02
576HepatoblastomaEnrichmentCTNNB11.02
577Cone-rod dystrophy 6EnrichmentGNAT21.02
578GliosarcomaEnrichmentNFKBIA1.01
579Hypertension, essentialEnrichmentGNB30.98
580Cleft palate, isolatedEnrichmentGNB10.98
581Dandy-walker syndromeEnrichmentPPP1CB0.98
582Sudden infant death syndromeEnrichmentCALM20.98
583Giant cell glioblastomaEnrichmentNFKBIA0.98
584Frontotemporal dementia 1EnrichmentDCTN10.98
585Atrial heart septal defectEnrichmentHDAC80.98
586Interatrial communicationEnrichmentHDAC80.98
587MalariaEnrichmentIKBKG0.98
588Heart, malformation ofEnrichmentMAPK10.96
589Pancreatic cancerEnrichmentKRAS0.95
590Nk-cell enteropathyEnrichmentIGF1R0.91
591Human immunodeficiency virus type 1EnrichmentCXCL120.91
592Cardiomyopathy, dilated, 1aEnrichmentNFATC20.90
593Prostate cancerEnrichmentCDH10.89
594Attention deficit-hyperactivity disorderEnrichmentGNB50.88
595Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL10.86
596Corpus callosum, agenesis ofEnrichmentCREBBP0.86
597Isolated corpus callosum agenesisEnrichmentCREBBP0.86
598Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.86
599Connective tissue diseaseEnrichmentACTA20.85
600Familial atrial fibrillationEnrichmentMYL40.84
601Severe combined immunodeficiencyEnrichmentIKBKB0.83
602CakutEnrichmentACTG10.82
603Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.80
604Developmental and epileptic encephalopathyEnrichmentARHGEF150.80
605Non-syndromic genetic deafnessEnrichmentACTG10.80
606StrabismusEnrichmentGNB10.80
607Cone dystrophyEnrichmentGNAT20.80
608Fetal akinesia deformation sequence 1EnrichmentACTA10.79
609Patent foramen ovaleEnrichmentPSMC30.78
610Polycystic kidney diseaseEnrichmentHDAC80.78
611MyopathyEnrichmentACTA10.76
612Charcot-marie-tooth diseaseEnrichmentARHGEF100.75
613Focal segmental glomerulosclerosisEnrichmentPLCE10.74
614Distal arthrogryposisEnrichmentACTA10.74
615Nonsyndromic hearing lossEnrichmentACTG10.74
616Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA20.72
617Myocardial infarctionEnrichmentPSMA60.70
618Left ventricular noncompactionEnrichmentRAF10.69
619Diamond-blackfan anemia 1EnrichmentTP530.69
620Autoinflammatory diseaseEnrichmentPSMB80.67
621Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.65
622Eye diseaseEnrichmentGNAT20.65
623Undetermined early-onset epileptic encephalopathyEnrichmentLIMK10.63
624Hypertrophic cardiomyopathyEnrichmentMYL30.62
625ThrombocytopeniaEnrichmentSRC0.57
626Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.54
627Spastic ataxiaEnrichmentITPR10.54
628Familial isolated dilated cardiomyopathyEnrichmentRAF10.54
629Diamond-blackfan anemiaEnrichmentTP530.52
630Body mass index quantitative trait locus 11EnrichmentGNAS0.52
631Rare genetic deafnessEnrichmentACTG10.50
632Mitochondrial diseaseEnrichmentC1QBP0.47
633Type 2 diabetes mellitusEnrichmentAKT20.46
634Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMET0.46
635Nephrotic syndromeEnrichmentPLCE10.46
636Joubert syndrome 1EnrichmentRCOR10.40
637Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIN10.36
638AutismEnrichmentCREBBP0.29
639Hereditary retinal dystrophyEnrichmentGNAT1, GNAT20.21
640Fundus dystrophyEnrichmentGNAT1, GNAT20.21
641Retinitis pigmentosaEnrichmentGNAT10.10

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