Tyrosine Kinases / Adaptors

No Pathway Network information available for Tyrosine Kinases / Adaptors

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

Disorders associated with Tyrosine Kinases / Adaptors SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Hemifacial hyperplasiaEnrichmentEFNB1, FGFR2, FGFR34.90
2Acute myeloid leukemia with maturationEnrichmentFLT3, KIT, NPM14.90
3Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.90
4Ovarian cancerEnrichmentALK, EGFR, ERBB2, KIT, MET, NTRK1, PDGFRA, RET4.85
5Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG4.60
6Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR34.60
7Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, ROS14.54
8B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, BCR, FLT34.37
9Lymphatic malformation 1EnrichmentEPHB4, FLT43.93
10Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT43.93
11Pfeiffer syndromeEnrichmentFGFR1, FGFR23.93
12Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.93
13Lymphoproliferative syndromeEnrichmentITK, SH2D1A3.93
14Hereditary lymphedema iEnrichmentEPHB4, FLT43.93
15Acute myeloid leukemia without maturationEnrichmentFLT3, NPM13.93
16Lymphomatoid papulosisEnrichmentNPM1, TYK23.93
17Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM1, TYK23.93
18Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR, RET3.77
19Lip and oral cavity carcinomaEnrichmentABL1, EGFR, KIT3.58
20Bladder cancerEnrichmentEGFR, ERBB2, ERBB3, FGFR33.58
21Nk-cell enteropathyEnrichmentAXL, ERBB4, IGF1R3.47
22Crouzon syndromeEnrichmentFGFR2, FGFR33.45
23Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR33.45
24Thyroid carcinoma, familial medullaryEnrichmentNTRK1, RET3.45
25Chromosome 8p11 myeloproliferative syndromeEnrichmentBCR, FGFR13.45
26Testicular germ cell cancerEnrichmentFGFR3, KIT3.45
27Colorectal cancerEnrichmentERBB2, FGFR2, FGFR3, MET, RET, SRC3.43
28Lung cancerEnrichmentALK, EGFR, ERBB2, MET3.41
29Lung cancer susceptibility 3EnrichmentEGFR, ERBB2, ROS13.37
30GliosarcomaEnrichmentEGFR, FGFR1, FGFR33.19
31Chromosome 22q11.2 deletion syndrome, distalEnrichmentBCR, CRKL3.16
32Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.16
33Malignant epithelioid hemangioendotheliomaEnrichmentWWTR1, YAP13.16
34Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, YWHAZ3.16
35Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT3.16
36Leukemia, acute myeloidEnrichmentFLT3, JAK2, KIT, NPM13.04
37Myeloproliferative neoplasmEnrichmentCBL, JAK22.94
38Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.94
39Hepatocellular carcinomaEnrichmentIGF2R, MET, RET2.77
40Hemangioma, capillary infantileEnrichmentFLT4, KDR2.76
4146,xy disorder of sex developmentEnrichmentFGFR3, INSR2.76
42Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, BCR, FLT32.72
43MyelofibrosisEnrichmentJAK2, SRC2.62
44Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.62
45Leukemia, chronic myeloidEnrichmentABL1, BCR2.62
46Pilomyxoid astrocytomaEnrichmentFGFR1, NTRK22.62
47Myeloma, multipleEnrichmentFGFR3, FLT3, MST1R, YAP12.49
48Inherited cancer-predisposing syndromeEnrichmentALK, EGFR, KIT, MET, PDGFRA, RET2.49
49Hirschsprung disease 1EnrichmentERBB2, ERBB3, RET2.42
50Differentiated thyroid carcinomaEnrichmentALK, NTRK1, RET2.42
51Primary ovarian insufficiencyEnrichmentIGF2R, JAK2, KDR, NTRK12.41
52Arteriovenous malformationEnrichmentEPHB4, TEK2.39
53Non-immune hydrops fetalisEnrichmentANGPT2, EPHB4, FLT42.34
54Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, TEK2.30
55Lung non-small cell carcinomaEnrichmentEGFR, ERBB22.21
56Renal hypodysplasia/aplasia 3EnrichmentFGFR3, RET2.14
57Lymphatic malformation 5EnrichmentEPHB41.96
58Multiple endocrine neoplasia, type iibEnrichmentRET1.96
59Brachydactyly, type b1EnrichmentROR21.96
60Erythroleukemia, familialEnrichmentERBB31.96
61HypochondroplasiaEnrichmentFGFR31.96
62Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.96
63Paget disease, extramammaryEnrichmentERBB21.96
64Osteoglophonic dysplasiaEnrichmentFGFR11.96
65Thanatophoric dysplasia, type iEnrichmentFGFR31.96
66Trigonocephaly 1EnrichmentFGFR11.96
67Donohue syndromeEnrichmentINSR1.96
68Muenke syndromeEnrichmentFGFR31.96
69Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.96
70Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.96
71Deafness, autosomal recessive 26EnrichmentGAB11.96
72Legius syndromeEnrichmentSPRED11.96
73Immunodeficiency 35EnrichmentTYK21.96
74Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.96
75Immunodeficiency 61EnrichmentSH3KBP11.96
76Hypomagnesemia 4, renalEnrichmentEGF1.96
77Nephrolithiasis/osteoporosis, hypophosphatemic, 2EnrichmentNHERF11.96
78Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.96
79Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.96
80Mastocytosis, cutaneousEnrichmentKIT1.96
81Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.96
82Apert syndromeEnrichmentFGFR21.96
83Neuroblastoma 3EnrichmentALK1.96
84Dermatitis, atopic, 4EnrichmentSOCS31.96
85Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP11.96
86Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.96
87Myofibromatosis, infantile, 1EnrichmentPDGFRB1.96
88Thanatophoric dysplasia, type iiEnrichmentFGFR31.96
89Iga nephropathy 3EnrichmentSPRY21.96
90Lethal congenital contracture syndrome 2EnrichmentERBB31.96
91Gist-plus syndromeEnrichmentPDGFRA1.96
92Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.96
93Transient erythroblastopenia of childhoodEnrichmentTEC1.96
94Bent bone dysplasia syndrome 1EnrichmentFGFR21.96
95Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.96
96Deafness, autosomal recessive 108EnrichmentROR11.96
97Immunodeficiency 81EnrichmentLCP21.96
98Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.96
99Developmental and epileptic encephalopathy 58EnrichmentNTRK21.96
100Respiratory infections, recurrent, and failure to thrive with or without diarrheaEnrichmentAGR21.96
101Lymphoproliferative syndrome, x-linked, 1EnrichmentSH2D1A1.96
102Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.96
103Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB1.96
104Immunodeficiency 48EnrichmentZAP701.96
105Craniofrontonasal syndromeEnrichmentEFNB11.96
106Hereditary lymphedema idEnrichmentVEGFC1.96
107Osteofibrous dysplasiaEnrichmentMET1.96
108Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.96
109Isolated growth hormone deficiency type iiiEnrichmentBTK1.96
110Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.96
111Lymphatic malformation 4EnrichmentVEGFC1.96
112Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP11.96
113Deafness, autosomal recessive 97EnrichmentMET1.96
114Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.96
115Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.96
116Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.96
117Lymphoproliferative syndrome 1EnrichmentITK1.96
118Autism 9EnrichmentMET1.96
119Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.96
120Amyotrophic lateral sclerosis 19EnrichmentERBB41.96
121Nasopharyngeal carcinoma 3EnrichmentMST1R1.96
122Spinocerebellar ataxia 37EnrichmentDAB11.96
123Deafness, autosomal recessive 102EnrichmentEPS81.96
124Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.96
125Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.96
126Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.96
127Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.96
128Kosaki overgrowth syndromeEnrichmentPDGFRB1.96
129Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.96
130Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.96
131Hartsfield syndromeEnrichmentFGFR11.96
132Congenital heart defects, multiple types, 7EnrichmentFLT41.96
133Immunodeficiency 22EnrichmentLCK1.96
134Bleeding disorder, platelet-type, 22EnrichmentEPHB21.96
135Thrombocytopenia 6EnrichmentSRC1.96
136Glaucoma 3, primary congenital, eEnrichmentTEK1.96
137Deafness, autosomal recessive 107EnrichmentWBP21.96
138Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.96
139Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.96
140Infantile-onset mesial temporal lobe epilepsy with severe cognitive regressionEnrichmentTNK21.96
141Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.96
142Peho-like syndromeEnrichmentCCDC88A1.96
143Chronic mast cell leukemiaEnrichmentKIT1.96
144Warburg-cinotti syndromeEnrichmentDDR21.96
145Tufted angioma of skinEnrichmentKDR1.96
146Deafness, autosomal dominant 69EnrichmentKITLG1.96
147Arthrogryposis, distal, type 11EnrichmentMET1.96
148Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.96
149Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK1.96
150Csf1r-related disorderEnrichmentCSF1R1.96
151Autosomal recessive spastic paraplegia type 59EnrichmentUSP81.96
152Bockenheimer syndromeEnrichmentTEK1.96
153ColitisEnrichmentSYK1.96
154Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.96
155Isolated bone marrow mastocytosisEnrichmentKIT1.96
156Thyroid cancerEnrichmentRET1.96
157Smoldering systemic mastocytosisEnrichmentKIT1.96
158Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.96
159Alk-positive anaplastic large cell lymphomaEnrichmentALK1.96
160Fgfr3-related chondrodysplasiaEnrichmentFGFR31.96
161MastocytosisEnrichmentKIT1.96
162Congenital primary lymphedema of gordonEnrichmentVEGFC1.96
163Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.96
164Familial progressive hyperpigmentationEnrichmentKITLG1.96
165Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.96
166Cutaneous mastocytomaEnrichmentKIT1.96
167Typical urticaria pigmentosaEnrichmentKIT1.96
168Nodular urticaria pigmentosaEnrichmentKIT1.96
169Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB101.96
170Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.96
171Alk-positive large b-cell lymphomaEnrichmentALK1.96
172Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.96
173Telangiectasia macularis eruptiva perstansEnrichmentKIT1.96
174Acute mast cell leukemiaEnrichmentKIT1.96
175Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.96
176Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.96
177Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.96
178Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.96
179Plaque-form urticaria pigmentosaEnrichmentKIT1.96
180Serous carcinoma of the corpus uteriEnrichmentERBB21.96
181Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.96
182Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.96
183Zap70-related severe combined immunodeficiencyEnrichmentZAP701.96
184Temporomandibular joint anomalyEnrichmentDOCK11.96
185Gastrointestinal system diseaseEnrichmentRET1.96
186Vein of galen aneurysmal malformationEnrichmentEPHB41.96
187Multiple endocrine neoplasiaEnrichmentRET1.96
188Testis seminomaEnrichmentKIT1.96
189HydrocephalusEnrichmentFGFR2, PDGFRB1.95
190Noonan syndrome and noonan-related syndromeEnrichmentCBL, SPRED11.95
191RhabdomyosarcomaEnrichmentALK, CBL1.89
192Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentEPS8, MET, ROR1, WBP21.79
193HypertelorismEnrichmentEFNB1, FGFR2, RET1.72
194CraniosynostosisEnrichmentFGFR2, FGFR31.70
195Blue rubber bleb nevusEnrichmentTEK1.66
196Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.66
197Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.66
198Pituitary adenoma 4, acth-secretingEnrichmentUSP81.66
199Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.66
200Ovarian germ cell cancerEnrichmentCBL1.66
201Cervical cancerEnrichmentFGFR31.66
202Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.66
203Piebald traitEnrichmentKIT1.66
204Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.66
205Aural atresia, congenitalEnrichmentFGFR21.66
206Keratosis, seborrheicEnrichmentFGFR31.66
207Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.66
208Maturity-onset diabetes of the young, type 11EnrichmentBLK1.66
209Angioma, tuftedEnrichmentKDR1.66
210Thrombocythemia 3EnrichmentJAK21.66
211Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.66
212Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.66
213Myopia 28, autosomal recessiveEnrichmentDOK11.66
214Waardenburg syndrome, type 2fEnrichmentKITLG1.66
215Lymphatic malformation 11EnrichmentTIE11.66
216Agammaglobulinemia, x-linkedEnrichmentBTK1.66
217Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.66
218HypophosphatemiaEnrichmentNHERF11.66
219Infantile myofibromatosisEnrichmentPDGFRB1.66
220Autoimmune disease, multisystem, infantile-onset, 3EnrichmentCBLB1.66
221Childhood hepatocellular carcinomaEnrichmentMET1.66
222Split hand-foot malformationEnrichmentFGFR21.66
223Rosette-forming glioneuronal tumorEnrichmentFGFR11.66
224Papillary renal cell carcinomaEnrichmentMET1.66
225Medullary thyroid carcinomaEnrichmentRET1.66
226Cervix carcinomaEnrichmentFGFR31.66
227Retinitis pigmentosa 38EnrichmentMERTK1.66
228PolycythemiaEnrichmentJAK21.66
229Lymphatic malformation 10EnrichmentANGPT21.66
230Interfrontal craniofaciosynostosisEnrichmentFGFR11.66
231Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.66
232Chronic eosinophilic leukemiaEnrichmentPDGFRA1.66
233ArthritisEnrichmentSYK1.66
234Hypereosinophilic syndromeEnrichmentJAK21.66
235Malignant germ cell tumor of ovaryEnrichmentCBL1.66
236B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.66
237Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.66
238Dominant hypophosphatemia with nephrolithiasis or osteoporosisEnrichmentNHERF11.66
239B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.66
240Tooth agenesisEnrichmentFGFR1, TGFA1.63
241AchondroplasiaEnrichmentFGFR31.49
242Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.49
243Larsen syndromeEnrichmentFGFR31.49
244Polycythemia veraEnrichmentJAK21.49
245Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.49
246Niemann-pick disease, type aEnrichmentAPBB11.49
247Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.49
248Niemann-pick disease, type bEnrichmentAPBB11.49
249Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.49
250Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.49
251Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.49
252Agammaglobulinemia 1EnrichmentBTK1.49
253Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.49
254HamartomaEnrichmentFGFR31.49
255Lymphatic malformation 7EnrichmentEPHB41.49
256Gingival overgrowthEnrichmentRET1.49
257Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.49
258T-cell acute lymphoblastic leukemiaEnrichmentABL11.49
259SpermatocytomaEnrichmentFGFR31.49
260Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.49
261Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.49
262Mixed phenotype acute leukemia with tEnrichmentFLT31.49
263Renal cell carcinomaEnrichmentMET1.49
264Testicular cancerEnrichmentFGFR31.49
265Hydrops fetalis, nonimmuneEnrichmentEPHB4, FLT41.49
266Erythrocytosis, familial, 1EnrichmentJAK21.37
267Budd-chiari syndromeEnrichmentJAK21.37
268Glaucoma 3, primary infantile, bEnrichmentTEK1.37
269CholangiocarcinomaEnrichmentROS11.37
270Barrett esophagusEnrichmentERBB21.37
271Central hypoventilation syndrome, congenital, 1EnrichmentRET1.37
272Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.37
273Chronic myelomonocytic leukemiaEnrichmentFLT31.37
274Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.37
275Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.37
276GliomaEnrichmentFGFR21.37
277Haddad syndromeEnrichmentRET1.37
278Pseudomyogenic hemangioendotheliomaEnrichmentWWTR11.37
279Severe combined immunodeficiencyEnrichmentLCK, ZAP701.30
280Cataract 6, multiple typesEnrichmentEPHA21.27
281Multiple endocrine neoplasia, type iiaEnrichmentRET1.27
282Niemann-pick disease, type c1EnrichmentAPBB11.27
283Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT21.27
284Robinow syndrome, autosomal recessive 1EnrichmentROR21.27
285Insulin-like growth factor iEnrichmentIGF1R1.27
286Pre-eclampsiaEnrichmentFLT11.27
287Niemann-pick diseaseEnrichmentAPBB11.27
288HoloprosencephalyEnrichmentFGFR11.27
289AniridiaEnrichmentEPHA21.27
290Aggressive systemic mastocytosisEnrichmentCBL1.27
291Endometrial stromal sarcomaEnrichmentYWHAE1.27
292Cowden syndrome 1EnrichmentEGFR1.20
293Split-hand/foot malformation 1EnrichmentFGFR21.20
294Holoprosencephaly 1EnrichmentFGFR11.20
295Inflammatory myofibroblastic tumorEnrichmentALK1.20
296Autosomal recessive robinow syndromeEnrichmentROR21.20
297Kidney clear cell sarcomaEnrichmentYWHAE1.20
298Sporadic pheochromocytoma/secreting paragangliomaEnrichmentRET1.20
299Nevus, epidermalEnrichmentFGFR31.13
300Glaucoma 3, primary congenital, aEnrichmentTEK1.13
301Squamous cell carcinoma, head and neckEnrichmentEGFR1.13
302Waardenburg syndrome, type 2eEnrichmentKITLG1.13
303Capillary malformation-arteriovenous malformation 1EnrichmentEPHB41.13
304Renal cell carcinoma, papillary, 1EnrichmentMET1.13
305Neuropathy, hereditary sensory and autonomic, type vEnrichmentNTRK11.13
306Essential thrombocythemiaEnrichmentJAK21.13
307Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RB1.13
308Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RB1.13
309Moyamoya angiopathyEnrichmentABL11.13
310Type 2 diabetes mellitusEnrichmentINSR, IRS11.12
311Gastric cancerEnrichmentERBB2, FGFR21.10
312Arthrogryposis, distal, type 1aEnrichmentMET1.08
313Melanocytic nevus syndrome, congenitalEnrichmentALK1.08
314Glioma susceptibility 1EnrichmentERBB21.08
315Basal ganglia calcification, idiopathic, 1EnrichmentPDGFRB1.08
316Renal hypodysplasia/aplasia 1EnrichmentRET1.08
317HypothyroidismEnrichmentRET1.08
318NeuroblastomaEnrichmentALK1.08
319Early-onset posterior polar cataractEnrichmentEPHA21.08
320Neurofibromatosis, type iEnrichmentSPRED11.03
321Leukemia, acute lymphoblastic 3EnrichmentJAK21.03
322Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT31.03
323Adult hepatocellular carcinomaEnrichmentEGF1.03
324Hypogonadotropic hypogonadismEnrichmentFGFR11.03
325Congenital central hypoventilation syndromeEnrichmentRET1.03
326Primary hyperaldosteronismEnrichmentUSP81.03
327Ventricular septal defectEnrichmentTEK1.03
328Renal agenesis, bilateralEnrichmentRET1.03
329Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB4, YWHAZ0.99
330Meier-gorlin syndrome 1EnrichmentFGFR20.98
331NephrolithiasisEnrichmentNHERF10.98
332Primary bone dysplasiaEnrichmentFGFR30.98
333Immune deficiency diseaseEnrichmentSYK0.94
334Frontotemporal dementia 1EnrichmentCSF1R0.94
335Leukemia, acute lymphoblasticEnrichmentFLT30.94
336Combined immunodeficiencyEnrichmentZAP700.94
337OsteochondrodysplasiaEnrichmentFGFR30.94
338IchthyosisEnrichmentIL2RB0.94
339Combined t cell and b cell immunodeficiencyEnrichmentZAP700.94
340Specific learning disabilityEnrichmentYWHAG0.94
341Combined t and b cell immunodeficiencyEnrichmentZAP700.94
342Septooptic dysplasiaEnrichmentFGFR10.91
343Juvenile myelomonocytic leukemiaEnrichmentCBL0.91
344Undetermined early-onset epileptic encephalopathyEnrichmentNTRK2, YWHAG0.90
345Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, ERBB40.88
346Microphthalmia/coloboma 12EnrichmentYAP10.88
347Acute promyelocytic leukemiaEnrichmentNPM10.88
348Alzheimer's diseaseEnrichmentCSF1R0.88
349Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.85
350OsteoporosisEnrichmentSRC0.85
351PheochromocytomaEnrichmentRET0.85
352Heart diseaseEnrichmentABL10.85
353CataractEnrichmentEPHA20.85
354Cleft lip/palateEnrichmentPDGFRA0.85
355MicrocephalyEnrichmentABL1, IGF1R, YWHAG0.82
356Coloboma of maculaEnrichmentYAP10.82
357Renal cell carcinoma, nonpapillaryEnrichmentMET0.82
358Male infertility with spermatogenesis disorderEnrichmentSPRED10.82
359Microform holoprosencephalyEnrichmentFGFR10.79
360Lobar holoprosencephalyEnrichmentFGFR10.79
361Alzheimer disease, familial, 1EnrichmentCSF1R0.77
362Dandy-walker syndromeEnrichmentPDGFRB0.77
363Cataract 44EnrichmentEPHA20.77
364Semilobar holoprosencephalyEnrichmentFGFR10.75
365Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.75
366Early-onset nuclear cataractEnrichmentEPHA20.75
367Arteriovenous malformations of the brainEnrichmentEGFR0.73
368Diffuse large b-cell lymphomaEnrichmentBTK0.73
369Parkinson's diseaseEnrichmentTNK20.73
370Dyskeratosis congenitaEnrichmentNPM10.73
371Maturity-onset diabetes of the youngEnrichmentBLK0.71
372Breast cancerEnrichmentRET, SHC10.71
373Endometrial cancerEnrichmentFGFR20.69
374HepatoblastomaEnrichmentFGFR30.69
375Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentRET0.69
376Noonan syndrome 1EnrichmentCBL0.65
377Kallmann syndromeEnrichmentFGFR10.65
378Autoinflammatory diseaseEnrichmentSH2D1A0.64
379RasopathyEnrichmentCBL0.60
380Prostate cancerEnrichmentEPHB20.56
381Primary autosomal recessive microcephalyEnrichmentANGPT20.53
382Connective tissue diseaseEnrichmentFGFR30.53
383Fetal akinesia deformation sequence 1EnrichmentROR20.48
384Systemic lupus erythematosusEnrichmentBLK0.46
385Cerebral palsyEnrichmentPDGFRB0.46
386Distal arthrogryposisEnrichmentROR20.43
387West syndromeEnrichmentNTRK20.42
388Hereditary breast carcinomaEnrichmentRET0.42
389Sensorineural hearing lossEnrichmentRET0.39
390ThrombocytopeniaEnrichmentSRC0.39
391Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKITLG0.36
392Spastic ataxiaEnrichmentDAB10.36
393Hereditary breast ovarian cancer syndromeEnrichmentBCAR10.34
394Deafness, autosomal recessiveEnrichmentEPS80.30
395Autosomal recessive nonsyndromic deafnessEnrichmentEPS80.30
396Congenital nervous system abnormalityEnrichmentFGFR30.16
397Nervous system diseaseEnrichmentFGFR30.16
398Retinitis pigmentosaEnrichmentMERTK0.04
399Hereditary retinal dystrophyEnrichmentMERTK0.02
400Fundus dystrophyEnrichmentMERTK0.02

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