Gastrin signaling pathway

No Pathway Network information available for Gastrin signaling pathway

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

Disorders associated with Gastrin signaling pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, RAF1, SOS19.11
2Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS18.88
3Bladder cancerEnrichmentCDKN1A, CDKN2A, CTNNB1, EGFR, HRAS, KRAS, PIK3CA8.53
4Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, MAP2K1, PIK3CA7.81
5Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS17.60
6Lip and oral cavity carcinomaEnrichmentCDKN2A, EGFR, HRAS, KIT, PIK3CA7.58
7RasopathyEnrichmentHRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS17.25
8Lung squamous cell carcinomaEnrichmentCDKN2A, EGFR, KRAS, PIK3CA7.19
9Ovarian cancerEnrichmentAKT1, CDH1, CDKN1B, CDKN2A, CTNNB1, EGFR, KIT, KRAS, PIK3CA6.85
10Colorectal cancerEnrichmentAKT1, CCND1, CDH1, CTNNB1, PIK3CA, PIK3R1, PPARG, SRC6.24
11Breast cancerEnrichmentAKT1, CDH1, IL2, JUN, KRAS, PIK3CA, SHC15.57
12Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA4.97
13Nevus, epidermalEnrichmentHRAS, KRAS, PIK3CA4.73
14Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA4.73
15Gallbladder cancerEnrichmentCTNNB1, KRAS, PIK3CA4.73
16Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA4.35
17Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA4.20
18Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.70
19Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT33.70
20GliosarcomaEnrichmentEGFR, NFKBIA, PPARG3.55
21Giant cell glioblastomaEnrichmentEGFR, NFKBIA, PPARG3.47
22Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS3.40
23Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K13.40
24Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, KRAS3.40
25Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.40
26Congenital generalized lipodystrophyEnrichmentFOS, PPARG3.40
27Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K13.40
28Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC42, PTPN113.40
29Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF13.40
30Gastric cancerEnrichmentCDH1, CDKN2A, KRAS, PIK3CA3.37
31Hereditary breast carcinomaEnrichmentAKT1, CDH1, KRAS, PIK3CA3.33
32Capillary malformations, congenitalEnrichmentGNAQ, PIK3CA3.18
33Inherited cancer-predisposing syndromeEnrichmentCDH1, CDKN1B, CDKN2A, EGFR, KIT, PTPN113.11
34Klippel-trenaunay-weber syndromeEnrichmentGNAQ, PIK3CA3.00
35Cowden syndrome 1EnrichmentEGFR, PIK3CA3.00
36Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.00
37Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB13.00
38Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B2.86
39MyelofibrosisEnrichmentJAK2, SRC2.86
40Pilomyxoid astrocytomaEnrichmentKRAS, RAF12.86
41Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, PPARG2.77
42Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF12.74
43Non-immune hydrops fetalisEnrichmentHRAS, KRAS, PTPN112.68
44Lung cancerEnrichmentEGFR, KRAS, PIK3CA2.64
45Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA2.63
46Cowden syndromeEnrichmentAKT1, PIK3CA2.63
47Specific learning disabilityEnrichmentMAPK1, PTPN112.45
48EpicanthusEnrichmentPTPN11, TCF42.37
49Juvenile myelomonocytic leukemiaEnrichmentKRAS, PTPN112.37
50MeningiomaEnrichmentAKT1, PIK3CA2.37
51Leukemia, acute myeloidEnrichmentJAK2, KIT, KRAS2.36
52Lung cancer susceptibility 3EnrichmentEGFR, KRAS2.24
53Lynch syndromeEnrichmentKRAS, PIK3CA2.18
54MacrodactylyEnrichmentPIK3CA2.08
55Proteus syndromeEnrichmentAKT12.08
56MetachondromatosisEnrichmentPTPN112.08
57Oculoectodermal syndromeEnrichmentKRAS2.08
58Noonan syndrome 5EnrichmentRAF12.08
59Noonan syndrome 4EnrichmentSOS12.08
60Mastocytosis, cutaneousEnrichmentKIT2.08
61Melorheostosis, isolatedEnrichmentMAP2K12.08
62Megalencephaly, autosomal dominantEnrichmentPIK3CA2.08
63Leopard syndrome 1EnrichmentPTPN112.08
64Cardiomyopathy, dilated, 1nnEnrichmentRAF12.08
65Cowden syndrome 5EnrichmentPIK3CA2.08
66Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.08
67Lichtenstein-knorr syndromeEnrichmentSLC9A12.08
68Fetal encasement syndromeEnrichmentCHUK2.08
69Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.08
70Sturge-weber syndromeEnrichmentGNAQ2.08
71Cerebral cavernous malformations 4EnrichmentPIK3CA2.08
72Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.08
73Immunodeficiency 15bEnrichmentIKBKB2.08
74Noonan syndrome 13EnrichmentMAPK12.08
75Immunodeficiency 15aEnrichmentIKBKB2.08
76Short syndromeEnrichmentPIK3R12.08
77Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.08
78Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.08
79T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.08
80Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.08
81Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.08
82Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.08
83Microvascular complications of diabetes 1EnrichmentVEGFA2.08
84Hemifacial myohyperplasiaEnrichmentPIK3CA2.08
85Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.08
86MelorheostosisEnrichmentMAP2K12.08
87Neuroendocrine tumorEnrichmentCDKN1B2.08
88Leopard syndrome 2EnrichmentRAF12.08
89Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.08
90Cowden syndrome 6EnrichmentAKT12.08
91Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.08
92Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.08
93Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF42.08
94Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.08
95Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.08
96Cardioacrofacial dysplasia 1EnrichmentPRKACA2.08
9720p12.3 microdeletion syndromeEnrichmentBMP22.08
98Thrombocytopenia 6EnrichmentSRC2.08
99Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.08
100Takenouchi-kosaki syndromeEnrichmentCDC422.08
101Bartsocas-papas syndrome 2EnrichmentCHUK2.08
102Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.08
103Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.08
104Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.08
105Chronic mast cell leukemiaEnrichmentKIT2.08
106TrigonitisEnrichmentRAF12.08
107Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.08
108Adenoid ameloblastomaEnrichmentCTNNB12.08
109Cdkn2a cancer predispositionEnrichmentCDKN2A2.08
110Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.08
111HypospadiasEnrichmentPIK3CA2.08
112Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.08
113Breast lobular carcinomaEnrichmentCDH12.08
1145q14.3 microdeletion syndromeEnrichmentMEF2C2.08
115Isolated bone marrow mastocytosisEnrichmentKIT2.08
116Congenital pulmonary airway malformationEnrichmentKRAS2.08
117Smoldering systemic mastocytosisEnrichmentKIT2.08
118Rare venous malformationEnrichmentPIK3CA2.08
119Diaphragmatic eventrationEnrichmentPIK3CA2.08
120Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.08
121Nocarh syndromeEnrichmentCDC422.08
122MastocytosisEnrichmentKIT2.08
123Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.08
124Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.08
125Rare combined vascular malformationEnrichmentPIK3CA2.08
126Cavernous lymphangiomaEnrichmentPIK3CA2.08
127Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.08
128Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.08
129Cutaneous mastocytomaEnrichmentKIT2.08
130Typical urticaria pigmentosaEnrichmentKIT2.08
131Phakomatosis pigmentokeratoticaEnrichmentHRAS2.08
132Mef2c-related disorderEnrichmentMEF2C2.08
133Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.08
134Nodular urticaria pigmentosaEnrichmentKIT2.08
135Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.08
136Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.08
137Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT2.08
138Telangiectasia macularis eruptiva perstansEnrichmentKIT2.08
139Acute mast cell leukemiaEnrichmentKIT2.08
140Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.08
141Eccrine angiomatous hamartomaEnrichmentPIK3CA2.08
142Plaque-form urticaria pigmentosaEnrichmentKIT2.08
143Macrodactyly of toeEnrichmentPIK3CA2.08
144Bullous diffuse cutaneous mastocytosisEnrichmentKIT2.08
145Microcystic stromal tumorEnrichmentCTNNB12.08
146Malignant astrocytomaEnrichmentPTPN112.08
147Testis seminomaEnrichmentKIT2.08
148Heart, malformation ofEnrichmentJAG1, MAPK12.02
149Arteriovenous malformations of the brainEnrichmentEGFR, KRAS1.98
150Diffuse large b-cell lymphomaEnrichmentFOXO1, STAT31.98
151Myeloma, multipleEnrichmentCCND1, KRAS, PIK3R21.96
152Autism spectrum disorderEnrichmentMAP2K1, MEF2C, PTPN11, TCF41.90
153Endometrial cancerEnrichmentCDH1, PIK3CA1.89
154HepatoblastomaEnrichmentCTNNB1, JAG11.89
155Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA1.85
156Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, MYC1.82
157Gilles de la tourette syndromeEnrichmentHDC1.78
158Blepharocheilodontic syndrome 1EnrichmentCDH11.78
159Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.78
160Burkitt lymphomaEnrichmentMYC1.78
161Fibromatosis, gingival, 1EnrichmentSOS11.78
162Costello syndromeEnrichmentHRAS1.78
163Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.78
164Carotid intimal medial thickness 1EnrichmentPPARG1.78
165Pulmonic stenosisEnrichmentSOS11.78
166Histiocytoma, angiomatoid fibrousEnrichmentCREB11.78
167Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisEnrichmentCLDN11.78
168Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.78
169Piebald traitEnrichmentKIT1.78
170Keratosis, seborrheicEnrichmentPIK3CA1.78
171Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.78
172Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.78
173Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.78
174Noonan syndrome 8EnrichmentPIK3CA1.78
175Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.78
176Thrombocythemia 3EnrichmentJAK21.78
177Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.78
178Diarrhea 8, secretory sodium, congenitalEnrichmentSLC9A31.78
179Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.78
180Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.78
181Werner syndromeEnrichmentPTPN111.78
182Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.78
183Childhood hepatocellular carcinomaEnrichmentCTNNB11.78
184Rela fusion-positive ependymomaEnrichmentRELA1.78
185Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.78
186Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.78
187Fibrolamellar carcinomaEnrichmentPRKACA1.78
188Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.78
189Immune system diseaseEnrichmentCDC421.78
190PolycythemiaEnrichmentJAK21.78
191Craniosynostosis 7EnrichmentBMP21.78
192Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.78
193Familial partial lipodystrophyEnrichmentPPARG1.78
194Hypereosinophilic syndromeEnrichmentJAK21.78
195TeratomaEnrichmentCTNNB11.78
196B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.78
197Common variable immunodeficiency 12EnrichmentNFKB11.78
198Phakomatosis cesioflammeaEnrichmentGNAQ1.78
199Wooly hair nevusEnrichmentHRAS1.78
200Pancreatic cancerEnrichmentCDKN2A, KRAS1.75
201MicrocephalyEnrichmentCTNNB1, MAPK1, PTPN11, TCF41.72
202Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN111.71
203Prostate cancerEnrichmentCDH1, PIK3CA1.62
204Desmoid disease, hereditaryEnrichmentCTNNB11.61
205Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.61
206Alagille syndrome 1EnrichmentJAG11.61
207Polycythemia veraEnrichmentJAK21.61
208Pompe disease, infantile-onsetEnrichmentPIK3CA1.61
209Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentSLC9A31.61
210Nuchal bleb, familialEnrichmentSOS11.61
211Langerhans cell histiocytosisEnrichmentMAP2K11.61
212Transposition of the great arteries, dextro-loopedEnrichmentBMP21.61
213Nasopharyngeal carcinomaEnrichmentNFKBIA1.61
214Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.61
215Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.61
216Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.61
217Anus, imperforateEnrichmentCTNNB11.61
218Exudative vitreoretinopathy 7EnrichmentCTNNB11.61
219Large congenital melanocytic nevusEnrichmentHRAS1.61
220Desmoid tumorEnrichmentCTNNB11.61
221Hyper ige syndromeEnrichmentSTAT31.61
222High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.61
223Testicular germ cell cancerEnrichmentKIT1.61
224Immunodeficiency 14EnrichmentPIK3R11.61
225SpermatocytomaEnrichmentHRAS1.61
226Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.61
227Melanoma of soft tissueEnrichmentCREB11.61
228Tricuspid valve insufficiencyEnrichmentPTPN111.61
229Anastomosing haemangiomaEnrichmentGNAQ1.61
230KeratoacanthomaEnrichmentPIK3CA1.61
231Erythrocytosis, familial, 1EnrichmentJAK21.49
232Brachydactyly, type a2EnrichmentBMP21.49
233Budd-chiari syndromeEnrichmentJAK21.49
234Lipodystrophy, familial partial, type 3EnrichmentPPARG1.49
235Pitt-hopkins syndromeEnrichmentTCF41.49
236Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.49
237Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.49
238PilomatrixomaEnrichmentCTNNB11.49
239Leptin deficiency or dysfunctionEnrichmentPPARG1.49
240Alazami syndromeEnrichmentCTNNB11.49
241Mantle cell lymphomaEnrichmentCCND11.49
242Lung sarcomatoid carcinomaEnrichmentKRAS1.49
243Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.49
244Cerebrovascular diseaseEnrichmentPIK3CA1.49
245CraniopharyngiomaEnrichmentCTNNB11.49
246Pilocytic astrocytomaEnrichmentKRAS1.49
247Epidermolytic nevusEnrichmentHRAS1.49
248Familial cerebral cavernous malformationsEnrichmentPIK3CA1.49
249Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT1.49
250Primary hyperparathyroidismEnrichmentCDKN1B1.49
251Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.49
252Middle aortic syndromeEnrichmentJAG11.49
253Gingival fibromatosisEnrichmentSOS11.49
254Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.49
255Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC31.39
256Exudative vitreoretinopathy 1EnrichmentCTNNB11.39
257Von hippel-lindau syndromeEnrichmentCCND11.39
258Rhabdomyosarcoma 2EnrichmentFOXO11.39
259Ventricular septal defect 1EnrichmentBMP21.39
260Cholangitis, primary sclerosingEnrichmentTCF41.39
261Fuchs' endothelial dystrophyEnrichmentTCF41.39
262LymphomaEnrichmentPTPN111.39
263Acute myeloid leukemia with maturationEnrichmentKIT1.39
264Myeloproliferative neoplasmEnrichmentJAK21.39
265Histiocytoid hemangiomaEnrichmentFOS1.39
266HemimegalencephalyEnrichmentPIK3CA1.39
267Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentKIT1.39
268Type 2 diabetes mellitusEnrichmentIRS1, PPARG1.33
269Atrial septal defect 1EnrichmentBMP21.31
270Li-fraumeni syndromeEnrichmentCDKN2A1.31
271Melanoma, uvealEnrichmentGNAQ1.31
272Weyers acrofacial dysostosisEnrichmentCTNNB11.31
273Testicular germ cell tumorEnrichmentKIT1.31
274Patent ductus arteriosusEnrichmentPTPN111.31
275Cleft lip with or without cleft palateEnrichmentCDH11.31
276Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.25
277Squamous cell carcinoma, head and neckEnrichmentEGFR1.25
278Gastrointestinal stromal tumorEnrichmentKIT1.25
279Leukemia, chronic myeloidEnrichmentKRAS1.25
280Essential thrombocythemiaEnrichmentJAK21.25
281Common variable immunodeficiencyEnrichmentNFKB11.25
282Follicular thyroid carcinomaEnrichmentHRAS1.25
283Overgrowth syndromeEnrichmentPIK3R11.25
284B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A1.25
285ThrombocytopeniaEnrichmentPTPN11, SRC1.22
286Spastic paraplegia 4, autosomal dominantEnrichmentTCF41.19
287Hemochromatosis, type 1EnrichmentBMP21.19
288Exudative vitreoretinopathyEnrichmentCTNNB11.19
289Permanent neonatal diabetes mellitusEnrichmentSTAT31.19
290Ellis-van creveld syndromeEnrichmentPRKACA1.14
291Inflammatory bowel disease 1EnrichmentPRKCQ1.14
292Leukemia, acute lymphoblastic 3EnrichmentJAK21.14
293Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.14
294Hereditary breast ovarian cancer syndromeEnrichmentBCAR1, KRAS1.12
295Leukemia, chronic lymphocyticEnrichmentCCND11.10
296Stroke, ischemicEnrichmentPRKCH1.10
297Ciliary dyskinesia, primary, 3EnrichmentNFKB11.10
298MelanomaEnrichmentCDKN2A1.10
299Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.10
300Pectus excavatumEnrichmentPTPN111.06
301Leukemia, acute lymphoblasticEnrichmentCDKN2A1.06
302Congenital long qt syndromeEnrichmentPTPN111.02
303Aortic valve disease 1EnrichmentSOS10.99
304Neural tube defectsEnrichmentITGB10.99
305Acute promyelocytic leukemiaEnrichmentSTAT30.99
306Stereotypic movement disorderEnrichmentTCF40.99
307OsteoporosisEnrichmentSRC0.96
308MedulloblastomaEnrichmentCTNNB10.96
309Cleft lip/palateEnrichmentCDH10.96
31046,xy partial gonadal dysgenesisEnrichmentSOS10.96
311RhabdomyosarcomaEnrichmentHRAS0.91
312Melanoma, cutaneous malignant 1EnrichmentCDKN2A0.88
313Polycystic liver diseaseEnrichmentCTNNB10.88
314Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.88
315Patent foramen ovaleEnrichmentPTPN110.86
316Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.74
317ScoliosisEnrichmentPTPN110.74
318Tetralogy of fallotEnrichmentJAG10.71
319StrabismusEnrichmentPTPN110.70
320Long qt syndrome 1EnrichmentPTPN110.66
321Cystic fibrosisEnrichmentSLC9A30.63
322Familial hypertrophic cardiomyopathyEnrichmentRAF10.62
323Severe combined immunodeficiencyEnrichmentIKBKB0.62
324Left ventricular noncompactionEnrichmentRAF10.60
325Hypertrophic cardiomyopathyEnrichmentPTPN110.52
326Body mass index quantitative trait locus 11EnrichmentPPARG0.47
327Autosomal dominant non-syndromic intellectual disabilityEnrichmentTCF40.47
328HypertelorismEnrichmentPIK3CA0.46
329Familial isolated dilated cardiomyopathyEnrichmentRAF10.45
330Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.43
331Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.42
332Primary ovarian insufficiencyEnrichmentJAK20.41
333Dilated cardiomyopathyEnrichmentRAF10.31
334Congenital nervous system abnormalityEnrichmentCTNNB10.23
335Nervous system diseaseEnrichmentCTNNB10.23
336Hereditary retinal dystrophyEnrichmentJAG10.04
337Fundus dystrophyEnrichmentJAG10.04

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