Physico-chemical features and toxicity-associated pathways

No Pathway Network information available for Physico-chemical features and toxicity-associated pathways

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

Disorders associated with Physico-chemical features and toxicity-associated pathways SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentCBL, MAP2K1, RAF1, SOS16.20
2Colorectal cancerEnrichmentAKT1, APC, CTNNB1, ERBB2, FZD3, SRC5.45
3Noonan syndrome 1EnrichmentCBL, MAP2K1, RAF1, SOS15.40
4RasopathyEnrichmentCBL, MAP2K1, RAF1, SOS15.18
5Ovarian cancerEnrichmentAKT1, APC, CDKN1B, CTNNB1, EGFR, ERBB25.07
6Bladder cancerEnrichmentCDKN1A, CTNNB1, EGFR, ERBB24.98
7Lung non-small cell carcinomaEnrichmentEGFR, ERBB2, MAP2K14.77
8Desmoid disease, hereditaryEnrichmentAPC, CTNNB14.17
9Desmoid tumorEnrichmentAPC, CTNNB14.17
10Robinow syndrome, autosomal dominant 1EnrichmentDVL1, FZD23.87
11CraniopharyngiomaEnrichmentAPC, CTNNB13.87
12Autosomal dominant robinow syndromeEnrichmentDVL1, FZD23.87
13Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB13.82
14Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentERBB4, NEFH, PFN1, SOD13.78
15Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD43.65
16Robinow syndrome, autosomal recessive 1EnrichmentDVL1, FZD23.65
17Robinow syndrome, autosomal dominant 2EnrichmentDVL1, FZD23.65
18Autosomal recessive robinow syndromeEnrichmentDVL1, FZD23.48
19Breast cancerEnrichmentAKT1, APC, JUN, SHC13.34
20Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B3.33
21Noonan syndrome 3EnrichmentRAF1, SOS13.33
22Exudative vitreoretinopathyEnrichmentCTNNB1, FZD43.21
23Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB13.10
24Amyotrophic lateral sclerosis 1EnrichmentNEFH, SOD13.00
25MedulloblastomaEnrichmentAPC, CTNNB12.70
26Lung cancer susceptibility 3EnrichmentEGFR, ERBB22.70
27HepatoblastomaEnrichmentAPC, CTNNB12.35
28Proteus syndromeEnrichmentAKT12.32
29Paget disease, extramammaryEnrichmentERBB22.32
30Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS12.32
31Nail disorder, nonsyndromic congenital, 1EnrichmentFZD62.32
32Noonan syndrome 5EnrichmentRAF12.32
33Noonan syndrome 4EnrichmentSOS12.32
34Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.32
35Melorheostosis, isolatedEnrichmentMAP2K12.32
36Omodysplasia 2EnrichmentFZD22.32
37Cardiomyopathy, dilated, 1nnEnrichmentRAF12.32
38Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.32
39Amyotrophic lateral sclerosis 18EnrichmentPFN12.32
40Myopathy, scapulohumeroperonealEnrichmentACTA12.32
41Charcot-marie-tooth disease, demyelinating, type 1fEnrichmentNEFL2.32
42Caudal duplication anomalyEnrichmentAXIN12.32
43Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.32
44Charcot-marie-tooth disease, axonal, type 2ccEnrichmentNEFH2.32
45Noonan syndrome 13EnrichmentMAPK12.32
46Charcot-marie-tooth disease, dominant intermediate gEnrichmentNEFL2.32
47Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.32
48Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.32
49MelorheostosisEnrichmentMAP2K12.32
50Neuroendocrine tumorEnrichmentCDKN1B2.32
51Leopard syndrome 2EnrichmentRAF12.32
52Glutathione peroxidase deficiencyEnrichmentGPX12.32
53Charcot-marie-tooth disease type 1fEnrichmentNEFL2.32
54Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.32
55Cowden syndrome 6EnrichmentAKT12.32
56Amyotrophic lateral sclerosis 19EnrichmentERBB42.32
57Microphthalmia/coloboma 11EnrichmentFZD52.32
58Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.32
59Thrombocytopenia 6EnrichmentSRC2.32
60Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.32
61Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.32
62Congenital myopathy 14EnrichmentMYL12.32
63Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.32
64TrigonitisEnrichmentRAF12.32
65Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.32
66Adenoid ameloblastomaEnrichmentCTNNB12.32
67Charcot-marie-tooth disease type 2b5EnrichmentNEFL2.32
68Familial adenomatous polyposisEnrichmentAPC2.32
69Zebra body myopathyEnrichmentACTA12.32
70Gardner syndromeEnrichmentAPC2.32
715q22 microdeletion syndromeEnrichmentAPC2.32
72Actin-accumulation myopathyEnrichmentACTA12.32
73Attenuated familial adenomatous polyposisEnrichmentAPC2.32
74Serous carcinoma of the corpus uteriEnrichmentERBB22.32
75Microcystic stromal tumorEnrichmentCTNNB12.32
76Hydrops fetalis, nonimmuneEnrichmentACTA1, FZD62.17
77Burkitt lymphomaEnrichmentMYC2.02
78Fibromatosis, gingival, 1EnrichmentSOS12.02
79Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN12.02
80Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN12.02
81Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.02
82Ovarian germ cell cancerEnrichmentCBL2.02
83Pulmonic stenosisEnrichmentSOS12.02
84Hereditary motor and sensory neuropathy, type iicEnrichmentNEFH2.02
85Robinow syndrome, autosomal dominant 3EnrichmentFZD22.02
86Multiple endocrine neoplasia, type ivEnrichmentCDKN1B2.02
87Childhood hepatocellular carcinomaEnrichmentCTNNB12.02
88Spastic tetraplegia and axial hypotonia, progressiveEnrichmentSOD12.02
89Periampullary adenomaEnrichmentAPC2.02
90Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC2.02
91Houge-janssens syndrome 3EnrichmentPPP2CA2.02
92Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.02
93Malignant germ cell tumor of ovaryEnrichmentCBL2.02
94TeratomaEnrichmentCTNNB12.02
95Non-immune hydrops fetalisEnrichmentACTA1, FZD62.02
96Lung cancerEnrichmentEGFR, ERBB21.99
97Glomerulopathy with fibronectin deposits 2EnrichmentFN11.84
98Nuchal bleb, familialEnrichmentSOS11.84
99Langerhans cell histiocytosisEnrichmentMAP2K11.84
100Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.84
101Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.84
102Cenani-lenz syndactyly syndromeEnrichmentAPC1.84
103Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.84
104Anus, imperforateEnrichmentCTNNB11.84
105Exudative vitreoretinopathy 7EnrichmentCTNNB11.84
106High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.84
107Nail diseaseEnrichmentFZD61.84
108Colon adenocarcinomaEnrichmentAPC1.84
109Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.84
110Apc-associated polyposis conditionsEnrichmentAPC1.84
111Distal arthrogryposisEnrichmentACTA1, FZD31.76
112Gastric cancerEnrichmentAPC, ERBB21.74
113Hereditary breast carcinomaEnrichmentAKT1, APC1.73
114Cardiofaciocutaneous syndrome 1EnrichmentMAP2K11.72
115Nemaline myopathy 2EnrichmentACTA11.72
116Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYLK1.72
117Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.72
118PilomatrixomaEnrichmentCTNNB11.72
119Barrett esophagusEnrichmentERBB21.72
120Alazami syndromeEnrichmentCTNNB11.72
121Cardiofaciocutaneous syndromeEnrichmentMAP2K11.72
122Retinopathy of prematurityEnrichmentFZD41.72
123Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL1.72
124Noonan syndrome with multiple lentiginesEnrichmentRAF11.72
125Idiopathic achalasiaEnrichmentNOS11.72
126Eyelid colobomaEnrichmentFZD51.72
127Primary hyperparathyroidismEnrichmentCDKN1B1.72
128Intermediate nemaline myopathyEnrichmentACTA11.72
129Gingival fibromatosisEnrichmentSOS11.72
130Lens colobomaEnrichmentFZD51.72
131Visceral myopathy 1EnrichmentMYLK1.62
132Congenital myopathy 3 with rigid spineEnrichmentACTA11.62
133Norrie diseaseEnrichmentFZD41.62
134Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentSOD11.62
135Familial adenomatous polyposis 1EnrichmentAPC1.62
136Charcot-marie-tooth disease, axonal, type 2eEnrichmentNEFL1.62
137Myeloproliferative neoplasmEnrichmentCBL1.62
138Persistent hyperplastic primary vitreousEnrichmentFZD41.62
139Coloboma of choroid and retinaEnrichmentFZD51.62
140Aggressive systemic mastocytosisEnrichmentCBL1.62
141Severe congenital nemaline myopathyEnrichmentACTA11.62
142Inherited cancer-predisposing syndromeEnrichmentAPC, CDKN1B, EGFR1.60
143Coloboma of optic nerveEnrichmentFZD51.55
144Cowden syndrome 1EnrichmentEGFR1.55
145Weyers acrofacial dysostosisEnrichmentCTNNB11.55
146Hemihyperplasia, isolatedEnrichmentRHOA1.55
147Adrenocortical carcinomaEnrichmentCTNNB11.55
148Breast adenocarcinomaEnrichmentAKT11.55
149Lung squamous cell carcinomaEnrichmentEGFR1.55
150Multicystic kidney dysplasiaEnrichmentFZD31.55
151Typical nemaline myopathyEnrichmentACTA11.55
152Multicystic dysplastic kidneyEnrichmentFZD31.55
153MyelofibrosisEnrichmentSRC1.48
154Squamous cell carcinoma, head and neckEnrichmentEGFR1.48
155Coats diseaseEnrichmentFZD41.48
156Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.48
157Motor neuron diseaseEnrichmentSOD11.48
158Gallbladder cancerEnrichmentCTNNB11.48
159Pilomyxoid astrocytomaEnrichmentRAF11.48
160Childhood-onset nemaline myopathyEnrichmentACTA11.48
161Melanocytic nevus syndrome, congenitalEnrichmentRAF11.42
162Glioma susceptibility 1EnrichmentERBB21.42
163Arteriovenous malformationEnrichmentMAP2K11.37
164Colonic benign neoplasmEnrichmentAPC1.37
165Cowden syndromeEnrichmentAKT11.37
166Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK1.37
167Cat eye syndromeEnrichmentFZD51.33
168Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.33
169Nemaline myopathyEnrichmentACTA11.33
170Specific learning disabilityEnrichmentMAPK11.29
171Juvenile myelomonocytic leukemiaEnrichmentCBL1.25
172MeningiomaEnrichmentAKT11.25
173Lip and oral cavity carcinomaEnrichmentEGFR1.25
174Dilated cardiomyopathyEnrichmentACTA1, RAF11.25
175Aortic valve disease 1EnrichmentSOS11.22
176Microphthalmia/coloboma 12EnrichmentFZD51.22
177Nk-cell enteropathyEnrichmentERBB41.22
178OsteoporosisEnrichmentSRC1.19
179Aortic aneurysm, familial thoracic 1EnrichmentMYLK1.19
18046,xy partial gonadal dysgenesisEnrichmentSOS11.19
181Coloboma of maculaEnrichmentFZD51.16
182Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.16
183HydrocephalusEnrichmentFZD31.16
184RhabdomyosarcomaEnrichmentCBL1.13
185GliosarcomaEnrichmentEGFR1.13
186Polycystic liver diseaseEnrichmentCTNNB11.11
187Giant cell glioblastomaEnrichmentEGFR1.11
188Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.11
189Heart, malformation ofEnrichmentMAPK11.08
190Neuromuscular diseaseEnrichmentACTA11.08
191Arteriovenous malformations of the brainEnrichmentEGFR1.06
192Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentNEFL1.06
193Congenital myopathyEnrichmentACTA11.06
194Centronuclear myopathyEnrichmentACTA11.02
195Tooth agenesisEnrichmentTGFA1.00
196Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.98
197Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.96
198MicrocephalyEnrichmentCTNNB1, MAPK10.93
199Auditory neuropathyEnrichmentNEFL0.93
200Hirschsprung disease 1EnrichmentERBB20.89
201Peripheral nervous system diseaseEnrichmentNEFL0.85
202NeuropathyEnrichmentNEFL0.85
203Familial hypertrophic cardiomyopathyEnrichmentRAF10.83
204Left ventricular noncompactionEnrichmentRAF10.81
205Fetal akinesia deformation sequence 1EnrichmentACTA10.79
206MyopathyEnrichmentACTA10.76
207Charcot-marie-tooth diseaseEnrichmentNEFL0.75
208Nephrotic syndromeEnrichmentFN10.73
209Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYLK0.72
210Sensorineural hearing lossEnrichmentNEFL0.69
211ThrombocytopeniaEnrichmentSRC0.69
212Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB40.67
213Familial isolated dilated cardiomyopathyEnrichmentRAF10.65
214Congenital nervous system abnormalityEnrichmentCTNNB10.40
215Nervous system diseaseEnrichmentCTNNB10.40
216Autism spectrum disorderEnrichmentMAP2K10.39
217Complex neurodevelopmental disorderEnrichmentPPP2CA0.35
218Hereditary retinal dystrophyEnrichmentFZD40.12
219Fundus dystrophyEnrichmentFZD40.12

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