Signaling by SCF-KIT

Pathway network for the Signaling by SCF-KIT SuperPath

Sources:
  • Reactome

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

Disorders associated with Signaling by SCF-KIT SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentCBL, HRAS, KRAS, NRAS, PTPN11, SOS110.78
2Noonan syndrome 1EnrichmentCBL, HRAS, KRAS, NRAS, PTPN11, SOS110.12
3RasopathyEnrichmentCBL, HRAS, KRAS, NRAS, PTPN11, SOS19.90
4Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA9.87
5Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS, PIK3CA8.94
6Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, SOS18.56
7Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS7.96
8Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, PTPN117.41
9Leukemia, acute myeloidEnrichmentJAK2, KIT, KRAS, NRAS6.52
10Lip and oral cavity carcinomaEnrichmentHRAS, KIT, PIK3CA6.22
11MyelofibrosisEnrichmentJAK2, SH2B3, SRC6.02
12Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS5.69
13Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R15.21
14Large congenital melanocytic nevusEnrichmentHRAS, NRAS5.21
15Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT35.21
16Colorectal cancerEnrichmentNRAS, PIK3CA, PIK3R1, SRC5.15
17Bladder cancerEnrichmentHRAS, KRAS, PIK3CA5.01
18Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS5.01
19Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.91
20Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS4.91
21Testicular germ cell tumorEnrichmentKIT, KITLG4.71
22Breast adenocarcinomaEnrichmentKRAS, PIK3CA4.51
23Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA4.51
24Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS4.36
25Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA4.36
26Leukemia, chronic myeloidEnrichmentKRAS, NRAS4.36
27Gallbladder cancerEnrichmentKRAS, PIK3CA4.36
28Follicular thyroid carcinomaEnrichmentHRAS, NRAS4.36
29Erythrocytosis, familial, 1EnrichmentJAK2, SH2B34.25
30Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN114.25
31Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS4.24
32Arteriovenous malformationEnrichmentHRAS, PIK3CA4.13
33Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA4.03
34Myeloproliferative neoplasmEnrichmentCBL, JAK24.03
35Non-immune hydrops fetalisEnrichmentHRAS, KRAS, PTPN113.93
36Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B3.80
37Essential thrombocythemiaEnrichmentJAK2, SH2B33.71
38Lynch syndromeEnrichmentKRAS, PIK3CA3.67
39Ovarian cancerEnrichmentKIT, KRAS, PIK3CA3.38
40Myeloma, multipleEnrichmentKRAS, PIK3R2, SH2B33.17
41Lung cancerEnrichmentKRAS, PIK3CA3.00
42RhabdomyosarcomaEnrichmentCBL, HRAS2.96
43Noonan syndrome 4EnrichmentSOS12.93
44Mastocytosis, cutaneousEnrichmentKIT2.93
45Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG2.93
46Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG2.93
47Immunodeficiency 22EnrichmentLCK2.93
48Thrombocytopenia 6EnrichmentSRC2.93
49Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.93
50Chronic mast cell leukemiaEnrichmentKIT2.93
51Deafness, autosomal dominant 69EnrichmentKITLG2.93
52Isolated bone marrow mastocytosisEnrichmentKIT2.93
53Smoldering systemic mastocytosisEnrichmentKIT2.93
54Vegetative pyoderma gangrenosumEnrichmentPTPN62.93
55Bullous pyoderma gangrenosumEnrichmentPTPN62.93
56Pustular pyoderma gangrenosumEnrichmentPTPN62.93
57MastocytosisEnrichmentKIT2.93
58Familial progressive hyperpigmentationEnrichmentKITLG2.93
59Growth retardation-mild developmental delay-chronic hepatitis syndromeEnrichmentSH2B32.93
60Cutaneous mastocytomaEnrichmentKIT2.93
61Typical urticaria pigmentosaEnrichmentKIT2.93
62Classic pyoderma gangrenosumEnrichmentPTPN62.93
63Nodular urticaria pigmentosaEnrichmentKIT2.93
64Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT2.93
65Telangiectasia macularis eruptiva perstansEnrichmentKIT2.93
66Acute mast cell leukemiaEnrichmentKIT2.93
67Familial progressive hyper- and hypopigmentationEnrichmentKITLG2.93
68Plaque-form urticaria pigmentosaEnrichmentKIT2.93
69Bullous diffuse cutaneous mastocytosisEnrichmentKIT2.93
70Testis seminomaEnrichmentKIT2.93
71MacrodactylyEnrichmentPIK3CA2.83
72Oculoectodermal syndromeEnrichmentKRAS2.83
73Megalencephaly, autosomal dominantEnrichmentPIK3CA2.83
74Cowden syndrome 5EnrichmentPIK3CA2.83
75Melanosis, neurocutaneousEnrichmentNRAS2.83
76Noonan syndrome 6EnrichmentNRAS2.83
77Cerebral cavernous malformations 4EnrichmentPIK3CA2.83
78Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.83
79Short syndromeEnrichmentPIK3R12.83
80T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.83
81Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.83
82Hemifacial myohyperplasiaEnrichmentPIK3CA2.83
83Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.83
84Immunodeficiency 31aEnrichmentSTAT12.83
85Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.83
86Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.83
87Immunodeficiency 31bEnrichmentSTAT12.83
88Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.83
89Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.83
90HypospadiasEnrichmentPIK3CA2.83
91Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.83
92Congenital pulmonary airway malformationEnrichmentKRAS2.83
93Rare venous malformationEnrichmentPIK3CA2.83
94Diaphragmatic eventrationEnrichmentPIK3CA2.83
95Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.83
96Rare combined vascular malformationEnrichmentPIK3CA2.83
97Cavernous lymphangiomaEnrichmentPIK3CA2.83
98Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.83
99Phakomatosis pigmentokeratoticaEnrichmentHRAS2.83
100Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.83
101Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.83
102Eccrine angiomatous hamartomaEnrichmentPIK3CA2.83
103Macrodactyly of toeEnrichmentPIK3CA2.83
104Neurocutaneous melanocytosisEnrichmentNRAS2.83
105Diffuse large b-cell lymphomaEnrichmentSOCS1, STAT32.81
106Gastric cancerEnrichmentKRAS, PIK3CA2.75
107Hereditary breast carcinomaEnrichmentKRAS, PIK3CA2.73
108Fibromatosis, gingival, 1EnrichmentSOS12.63
109Ovarian germ cell cancerEnrichmentCBL2.63
110Pulmonic stenosisEnrichmentSOS12.63
111Piebald traitEnrichmentKIT2.63
112Waardenburg syndrome, type 2fEnrichmentKITLG2.63
113Malignant germ cell tumor of ovaryEnrichmentCBL2.63
114B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT2.63
115Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.54
116Costello syndromeEnrichmentHRAS2.53
117Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B2.53
118Keratosis, seborrheicEnrichmentPIK3CA2.53
119Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.53
120Noonan syndrome 8EnrichmentPIK3CA2.53
121Thrombocythemia 3EnrichmentJAK22.53
122Immunodeficiency 31cEnrichmentSTAT12.53
123Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.53
124PolycythemiaEnrichmentJAK22.53
125Hypereosinophilic syndromeEnrichmentJAK22.53
126Laron syndrome with immunodeficiencyEnrichmentSTAT5B2.53
127Wooly hair nevusEnrichmentHRAS2.53
128MetachondromatosisEnrichmentPTPN112.51
129Leopard syndrome 1EnrichmentPTPN112.51
130Deafness, autosomal recessive 114EnrichmentGRAP2.51
131Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK12.51
132Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.51
133Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB102.51
134Malignant astrocytomaEnrichmentPTPN112.51
135Thrombocythemia 1EnrichmentSH2B32.45
136Immune thrombocytopeniaEnrichmentSOCS12.45
137Nuchal bleb, familialEnrichmentSOS12.45
138Neutrophilic dermatosis, acute febrileEnrichmentPTPN62.45
139Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS12.45
140Testicular germ cell cancerEnrichmentKIT2.45
141Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.35
142Polycythemia veraEnrichmentJAK22.35
143Pompe disease, infantile-onsetEnrichmentPIK3CA2.35
144Langerhans cell histiocytosisEnrichmentNRAS2.35
145Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.35
146Hyper ige syndromeEnrichmentSTAT32.35
147Immunodeficiency 14EnrichmentPIK3R12.35
148SpermatocytomaEnrichmentHRAS2.35
149KeratoacanthomaEnrichmentPIK3CA2.35
150Anemia, autoimmune hemolyticEnrichmentSOCS12.33
151Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT2.33
152Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT2.33
153Gingival fibromatosisEnrichmentSOS12.33
154Breast cancerEnrichmentKRAS, PIK3CA2.27
155Acute myeloid leukemia with maturationEnrichmentKIT2.23
156Aggressive systemic mastocytosisEnrichmentCBL2.23
157Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentKIT2.23
158Cardiofaciocutaneous syndrome 1EnrichmentKRAS2.23
159Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.23
160Budd-chiari syndromeEnrichmentJAK22.23
161Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R22.23
162Cardiofaciocutaneous syndromeEnrichmentKRAS2.23
163Lung sarcomatoid carcinomaEnrichmentKRAS2.23
164Cerebrovascular diseaseEnrichmentPIK3CA2.23
165Pilocytic astrocytomaEnrichmentKRAS2.23
166Epidermolytic nevusEnrichmentHRAS2.23
167Familial cerebral cavernous malformationsEnrichmentPIK3CA2.23
168Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.21
169Werner syndromeEnrichmentPTPN112.21
170Metaphyseal anadysplasia 2EnrichmentMMP92.21
171Metaphyseal anadysplasiaEnrichmentMMP92.21
172Capillary malformations, congenitalEnrichmentPIK3CA2.13
173HemimegalencephalyEnrichmentPIK3CA2.13
174Inherited cancer-predisposing syndromeEnrichmentKIT, PTPN11, SH2B32.11
175Gastrointestinal stromal tumorEnrichmentKIT2.08
176Waardenburg syndrome, type 2eEnrichmentKITLG2.08
177Klippel-trenaunay-weber syndromeEnrichmentPIK3CA2.05
178Cowden syndrome 1EnrichmentPIK3CA2.05
179Hemihyperplasia, isolatedEnrichmentPIK3CA2.05
180Chronic mucocutaneous candidiasisEnrichmentSTAT12.05
181Tricuspid valve insufficiencyEnrichmentPTPN112.03
182ThrombocytopeniaEnrichmentPTPN11, SRC2.02
183Pilomyxoid astrocytomaEnrichmentKRAS1.99
184Overgrowth syndromeEnrichmentPIK3R11.99
185Permanent neonatal diabetes mellitusEnrichmentSTAT31.93
186Noonan syndrome with multiple lentiginesEnrichmentPTPN111.91
187Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK11.91
188Leukemia, acute lymphoblastic 3EnrichmentJAK21.88
189Adult hepatocellular carcinomaEnrichmentPIK3CA1.88
190Cowden syndromeEnrichmentPIK3CA1.88
191Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.83
192Aortic valve disease 1EnrichmentSOS11.82
193LymphomaEnrichmentPTPN111.81
194OsteoporosisEnrichmentSRC1.79
19546,xy partial gonadal dysgenesisEnrichmentSOS11.79
196MeningiomaEnrichmentPIK3CA1.76
197Patent ductus arteriosusEnrichmentPTPN111.73
198Protein-deficiency anemiaEnrichmentNRAS1.72
199Lung cancer susceptibility 3EnrichmentKRAS1.69
200Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.56
201Arteriovenous malformations of the brainEnrichmentKRAS1.56
202Endometrial cancerEnrichmentPIK3CA1.52
203Hepatocellular carcinomaEnrichmentPIK3CA1.50
204Pectus excavatumEnrichmentPTPN111.47
205Specific learning disabilityEnrichmentPTPN111.47
206Pancreatic cancerEnrichmentKRAS1.44
207EpicanthusEnrichmentPTPN111.44
208Congenital long qt syndromeEnrichmentPTPN111.44
209Severe combined immunodeficiencyEnrichmentLCK1.42
210Prostate cancerEnrichmentPIK3CA1.38
211Systemic lupus erythematosusEnrichmentSOCS11.35
212Patent foramen ovaleEnrichmentPTPN111.27
213Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKITLG1.22
214ScoliosisEnrichmentPTPN111.14
215HypertelorismEnrichmentPIK3CA1.13
216Hereditary breast ovarian cancer syndromeEnrichmentKRAS1.11
217StrabismusEnrichmentPTPN111.09
218Primary ovarian insufficiencyEnrichmentJAK21.08
219Long qt syndrome 1EnrichmentPTPN111.05
220Hypertrophic cardiomyopathyEnrichmentPTPN110.90
221Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.80
222Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGRAP0.62
223Autism spectrum disorderEnrichmentPTPN110.54
224MicrocephalyEnrichmentPTPN110.50

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