Insulin receptor signalling cascade

Pathway network for the Insulin receptor signalling cascade SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the Insulin receptor signalling cascade SuperPath

#NameSourceGenes
1Insulin receptor signalling cascadeReactome
2Signaling by Insulin receptorReactome
3Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)Reactome
4IGF1R signaling cascadeReactome
5IRS-related events triggered by IGF1RReactome
6IRS-mediated signallingReactome
7PI3K CascadeReactome
8Signal attenuationReactome
9SHC-related events triggered by IGF1RReactome
10SOS-mediated signallingReactome
11IRS activationReactome
12Glucose homeostasisWikiPathways

Gene overlap in member pathways for Insulin receptor signalling cascade SuperPath

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

Disorders associated with Insulin receptor signalling cascade SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA10.57
2Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, SOS110.29
3Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, SOS19.60
4RasopathyEnrichmentHRAS, KRAS, NRAS, SOS19.43
5Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS9.43
6Noonan syndrome 3EnrichmentHRAS, KRAS, SOS18.53
7Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS7.86
8Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR37.50
9Autosomal recessive cutis laxa type ii classic typeEnrichmentATP6V0A2, ATP6V1A, ATP6V1E16.67
10Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS6.64
11Type 2 diabetes mellitusEnrichmentINSR, IRS1, IRS26.56
12Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS6.51
13Large congenital melanocytic nevusEnrichmentHRAS, NRAS6.16
14Lung squamous cell carcinomaEnrichmentFGFR3, KRAS, PIK3CA6.08
15Colorectal cancerEnrichmentFGFR2, FGFR3, IGF2, NRAS, PIK3CA, PIK3R16.03
16Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS5.86
17Bladder cancerEnrichmentFGFR3, HRAS, KRAS, PIK3CA5.51
18Insulin-like growth factor iEnrichmentIGF1, IGF1R5.41
19Renal tubular acidosis, distal, 1EnrichmentATP6V0A4, ATP6V1B1, ATP6V1C25.38
20Distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B1, ATP6V1C25.38
21Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS5.32
22Leukemia, chronic myeloidEnrichmentKRAS, NRAS5.32
23Follicular thyroid carcinomaEnrichmentHRAS, NRAS5.32
24Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS5.20
25Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, PTPN115.05
26Keratosis, seborrheicEnrichmentFGFR3, PIK3CA4.99
27Pfeiffer syndromeEnrichmentFGFR1, FGFR24.99
28Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.99
29Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA4.99
30Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.91
31Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR14.60
32Crouzon syndromeEnrichmentFGFR2, FGFR34.51
33Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, KL4.51
34Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.51
35SpermatocytomaEnrichmentFGFR3, HRAS4.44
36Myeloma, multipleEnrichmentFGFR3, FLT3, KRAS, PIK3R24.35
37Kallmann syndromeEnrichmentFGF17, FGF8, FGFR14.27
38Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.21
39Saethre-chotzen syndromeEnrichmentFGFR2, FGFR34.21
40Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.99
41HoloprosencephalyEnrichmentFGF8, FGFR13.99
42Non-immune hydrops fetalisEnrichmentHRAS, KRAS3.98
43Renal tubular acidosis, distal, 3, with or without sensorineural hearing lossEnrichmentATP6V0A4, ATP6V1B13.97
44Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentATP6V1B2, ATP6V1C13.97
45Maturity-onset diabetes of the young, type 10EnrichmentINS3.83
46HyperproinsulinemiaEnrichmentINS3.83
47Diabetes mellitus, permanent neonatal, 4EnrichmentINS3.83
48Holoprosencephaly 1EnrichmentFGF8, FGFR13.82
49Leukemia, acute myeloidEnrichmentKRAS, NRAS3.75
50Breast adenocarcinomaEnrichmentKRAS, PIK3CA3.74
51Hemihyperplasia, isolatedEnrichmentIGF2, PIK3CA3.67
52Type 1 diabetes mellitus 2EnrichmentINS3.66
5346,xy disorder of sex developmentEnrichmentFGFR3, INSR3.64
54Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA3.59
55Gallbladder cancerEnrichmentKRAS, PIK3CA3.59
56Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS3.59
57Neonatal diabetes mellitusEnrichmentINS3.53
58Donohue syndromeEnrichmentINSR3.43
59Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR3.43
60Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR3.43
61Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR3.43
62Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB103.43
63Arteriovenous malformationEnrichmentHRAS, PIK3CA3.36
64Type 1 diabetes mellitusEnrichmentINS3.35
65Gastric cancerEnrichmentFGFR2, KRAS, PIK3CA3.33
66Oculoectodermal syndromeEnrichmentKRAS3.29
67Noonan syndrome 4EnrichmentSOS13.29
68Melanosis, neurocutaneousEnrichmentNRAS3.29
69Noonan syndrome 6EnrichmentNRAS3.29
70Cardiofaciocutaneous syndrome 2EnrichmentKRAS3.29
71Congenital pulmonary airway malformationEnrichmentKRAS3.29
72Phakomatosis pigmentokeratoticaEnrichmentHRAS3.29
73Neurocutaneous melanocytosisEnrichmentNRAS3.29
74Autosomal recessive distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B13.27
75Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA3.27
76Permanent neonatal diabetes mellitusEnrichmentINS3.23
77Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR3.13
78Noonan syndrome 13EnrichmentMAPK13.13
79Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF8, KLB, PTPN113.11
80Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.10
81Diabetes mellitusEnrichmentINS3.09
82Specific learning disabilityEnrichmentMAPK1, PTPN113.08
83Fibromatosis, gingival, 1EnrichmentSOS12.99
84Costello syndromeEnrichmentHRAS2.99
85Pulmonic stenosisEnrichmentSOS12.99
86Wooly hair nevusEnrichmentHRAS2.99
87Breast cancerEnrichmentKRAS, SHC12.98
88Lung cancer susceptibility 3EnrichmentFGF10, KRAS2.96
89Nk-cell enteropathyEnrichmentIGF1R, PIK3CB2.96
90GliosarcomaEnrichmentFGFR1, FGFR32.92
91Microform holoprosencephalyEnrichmentFGF8, FGFR12.92
92Lobar holoprosencephalyEnrichmentFGF8, FGFR12.92
93Lynch syndromeEnrichmentKRAS, PIK3CA2.90
94Silver-russell syndrome 3EnrichmentIGF22.88
95Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF12.88
96Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF22.88
97Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF22.88
98Giant cell glioblastomaEnrichmentFGFR1, FGFR32.87
99Maturity-onset diabetes of the youngEnrichmentINS2.83
100Semilobar holoprosencephalyEnrichmentFGF8, FGFR12.82
101Nuchal bleb, familialEnrichmentSOS12.81
102Langerhans cell histiocytosisEnrichmentNRAS2.81
103CraniosynostosisEnrichmentFGFR2, FGFR32.73
104Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R2.70
105Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF22.70
106Cardiofaciocutaneous syndrome 1EnrichmentKRAS2.69
107Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.69
108Cardiofaciocutaneous syndromeEnrichmentKRAS2.69
109Lung sarcomatoid carcinomaEnrichmentKRAS2.69
110Pilocytic astrocytomaEnrichmentKRAS2.69
111Epidermolytic nevusEnrichmentHRAS2.69
112Gingival fibromatosisEnrichmentSOS12.69
113Endometrial cancerEnrichmentFGFR2, PIK3CA2.68
114Cutis laxaEnrichmentATP6V0A2, ATP6V1E12.64
115Silver-russell syndrome due to a point mutationEnrichmentIGF22.58
116Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.53
117HypochondroplasiaEnrichmentFGFR32.49
118MacrodactylyEnrichmentPIK3CA2.49
119Beare-stevenson cutis gyrata syndromeEnrichmentFGFR22.49
120Osteoglophonic dysplasiaEnrichmentFGFR12.49
121MetachondromatosisEnrichmentPTPN112.49
122Thanatophoric dysplasia, type iEnrichmentFGFR32.49
123Trigonocephaly 1EnrichmentFGFR12.49
124Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.49
125Muenke syndromeEnrichmentFGFR32.49
126Deafness, autosomal recessive 26EnrichmentGAB12.49
127Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR22.49
128Megalencephaly, autosomal dominantEnrichmentPIK3CA2.49
129Apert syndromeEnrichmentFGFR22.49
130Leopard syndrome 1EnrichmentPTPN112.49
131Cowden syndrome 5EnrichmentPIK3CA2.49
132Thanatophoric dysplasia, type iiEnrichmentFGFR32.49
133Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF172.49
134Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.49
135Aplasia of lacrimal and salivary glandsEnrichmentFGF102.49
136Bent bone dysplasia syndrome 1EnrichmentFGFR22.49
137Cerebral cavernous malformations 4EnrichmentPIK3CA2.49
138Tumoral calcinosis, hyperphosphatemic, familial, 3EnrichmentKL2.49
139Short syndromeEnrichmentPIK3R12.49
140Metacarpal 4-5 fusionEnrichmentFGF162.49
141Lacrimoauriculodentodigital syndrome 3EnrichmentFGF102.49
142Familial isolated trichomegalyEnrichmentFGF52.49
143Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.49
144Hemifacial myohyperplasiaEnrichmentPIK3CA2.49
145Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.49
146Multiple synostoses syndrome 3EnrichmentFGF92.49
147Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.49
148Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.49
149Acute myeloid leukemia with minimal differentiationEnrichmentFLT32.49
150Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF82.49
151Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.49
152Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF232.49
153Hartsfield syndromeEnrichmentFGFR12.49
154Renal hypodysplasia/aplasia 2EnrichmentFGF202.49
155Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.49
156Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.49
157Immunodeficiency 125EnrichmentFLT3LG2.49
158Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF42.49
159HypospadiasEnrichmentPIK3CA2.49
160Rare venous malformationEnrichmentPIK3CA2.49
161Diaphragmatic eventrationEnrichmentPIK3CA2.49
162Fgfr3-related chondrodysplasiaEnrichmentFGFR32.49
163Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.49
164Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.49
165Rare combined vascular malformationEnrichmentPIK3CA2.49
166Cavernous lymphangiomaEnrichmentPIK3CA2.49
167Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.49
168Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.49
169Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.49
170Eccrine angiomatous hamartomaEnrichmentPIK3CA2.49
171Non-syndromic unicoronal craniosynostosisEnrichmentFGFR22.49
172Interstitial lung disease specific to childhoodEnrichmentFGF102.49
173Macrodactyly of toeEnrichmentPIK3CA2.49
174Akt2-related familial partial lipodystrophyEnrichmentAKT22.49
175Malignant astrocytomaEnrichmentPTPN112.49
176Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.42
177Hypothyroidism, congenital, nongoitrous, 9EnrichmentIRS42.42
178Silver-russell syndrome 1EnrichmentIGF22.33
179Lung cancerEnrichmentKRAS, PIK3CA2.25
180Deafness, congenital, with onychodystrophy, autosomal dominantEnrichmentATP6V1B22.22
181Breasts and/or nipples, aplasia or hypoplasia of, 1EnrichmentPTPRF2.22
182Cutis laxa, autosomal recessive, type iidEnrichmentATP6V1A2.22
183Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD2.22
184Breasts and/or nipples, aplasia or hypoplasia of, 2EnrichmentPTPRF2.22
185Zimmermann-laband syndrome 2EnrichmentATP6V1B22.22
186Cutis laxa, autosomal recessive, type iicEnrichmentATP6V1E12.22
187Developmental and epileptic encephalopathy 104EnrichmentATP6V0A12.22
188Neurodevelopmental disorder with epilepsy and brain atrophyEnrichmentATP6V0A12.22
189Epilepsy, early-onset, 3, with or without developmental delayEnrichmentATP6V0C2.22
190Autosomal dominant deafness - onychodystrophy syndromeEnrichmentATP6V1B22.22
191Otodental dysplasiaEnrichmentFGF32.19
192TrichomegalyEnrichmentFGF52.19
193Pulmonary hypoplasia, primaryEnrichmentFGF102.19
194Cervical cancerEnrichmentFGFR32.19
195Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B2.19
196Aural atresia, congenitalEnrichmentFGFR22.19
197Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF32.19
198Noonan syndrome 8EnrichmentPIK3CA2.19
199Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR22.19
200Werner syndromeEnrichmentPTPN112.19
201Split hand-foot malformationEnrichmentFGFR22.19
202Cervix carcinomaEnrichmentFGFR32.19
203Acute myeloid leukemia without maturationEnrichmentFLT32.19
204Interfrontal craniofaciosynostosisEnrichmentFGFR12.19
205Autosomal dominant nonsyndromic deafnessEnrichmentFGFR22.19
206Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT32.19
207Oculootodental syndromeEnrichmentFGF32.19
208Aortic valve disease 1EnrichmentSOS12.17
209Protein-deficiency anemiaEnrichmentNRAS2.17
21046,xy partial gonadal dysgenesisEnrichmentSOS12.14
211RhabdomyosarcomaEnrichmentHRAS2.08
212AchondroplasiaEnrichmentFGFR32.01
213Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR12.01
214Larsen syndromeEnrichmentFGFR32.01
215Hypophosphatemic rickets, autosomal dominantEnrichmentFGF232.01
216Pompe disease, infantile-onsetEnrichmentPIK3CA2.01
217Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B2.01
218Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR12.01
219Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.01
220HamartomaEnrichmentFGFR32.01
221Testicular germ cell cancerEnrichmentFGFR32.01
222Immunodeficiency 14EnrichmentPIK3R12.01
223Tricuspid valve insufficiencyEnrichmentPTPN112.01
224Mixed phenotype acute leukemia with tEnrichmentFLT32.01
225Testicular cancerEnrichmentFGFR32.01
226KeratoacanthomaEnrichmentPIK3CA2.01
227Arteriovenous malformations of the brainEnrichmentKRAS2.01
228Wilms tumor 1EnrichmentIGF22.00
229Hereditary breast carcinomaEnrichmentKRAS, PIK3CA1.98
230Beckwith-wiedemann syndromeEnrichmentIGF21.93
231Renal tubular acidosis, distal, 2, with progressive sensorineural hearing lossEnrichmentATP6V1B11.92
232Wrinkly skin syndromeEnrichmentATP6V0A21.92
233Developmental and epileptic encephalopathy 93EnrichmentATP6V1A1.92
234Osteopetrosis, autosomal recessive 1EnrichmentTCIRG11.92
235Renal tubular acidosisEnrichmentATP6V1B11.92
236Childhood-onset epilepsy syndromeEnrichmentATP6V0C1.92
237HypertelorismEnrichmentFGFR2, PIK3CA1.91
238Pancreatic cancerEnrichmentKRAS1.89
239Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.89
240Multiple synostoses syndromeEnrichmentFGF91.89
241Chronic myelomonocytic leukemiaEnrichmentFLT31.89
242Cerebrovascular diseaseEnrichmentPIK3CA1.89
243Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN111.89
244Noonan syndrome with multiple lentiginesEnrichmentPTPN111.89
245Familial cerebral cavernous malformationsEnrichmentPIK3CA1.89
246Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT31.89
247Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.89
248GliomaEnrichmentFGFR21.89
249Heart, malformation ofEnrichmentMAPK11.88
250Capillary malformations, congenitalEnrichmentPIK3CA1.79
251LymphomaEnrichmentPTPN111.79
252Acute myeloid leukemia with maturationEnrichmentFLT31.79
253HemimegalencephalyEnrichmentPIK3CA1.79
254Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT31.79
255Primary hypereosinophilic syndromeEnrichmentFGFR11.79
256Zimmermann-laband syndrome 1EnrichmentATP6V1B21.74
257ChoreoacanthocytosisEnrichmentTCIRG11.74
258Cutis laxa, autosomal recessive, type iiaEnrichmentATP6V0A21.74
259Neutropenia, severe congenital, 1, autosomal dominantEnrichmentTCIRG11.74
260DysosteosclerosisEnrichmentTCIRG11.74
261Osteopetrosis, autosomal recessive 6EnrichmentTCIRG11.74
262Atp6v0a2-related cutis laxaEnrichmentATP6V0A21.74
263Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.71
264Cowden syndrome 1EnrichmentPIK3CA1.71
265Split-hand/foot malformation 1EnrichmentFGFR21.71
266Testicular germ cell tumorEnrichmentFGFR31.71
267Patent ductus arteriosusEnrichmentPTPN111.71
268Overgrowth syndromeEnrichmentPIK3R11.65
269Hypophosphatemic ricketsEnrichmentFGF231.65
270B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT31.65
271Autosomal recessive osteopetrosisEnrichmentTCIRG11.62
272Intervertebral disc diseaseEnrichmentCILP1.56
273Hereditary breast ovarian cancer syndromeEnrichmentKRAS1.55
274Orofacial cleft 1EnrichmentFGF101.54
275Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT31.54
276Adult hepatocellular carcinomaEnrichmentPIK3CA1.54
277Hypogonadotropic hypogonadismEnrichmentFGFR11.54
278Cowden syndromeEnrichmentPIK3CA1.54
279Renal agenesis, bilateralEnrichmentFGF201.54
280Congenital disorder of glycosylation, type ilEnrichmentATP6V0A21.52
281OsteopetrosisEnrichmentTCIRG11.52
282Alg9-congenital disorder of glycosylationEnrichmentATP6V0A21.52
283Autosomal dominant severe congenital neutropeniaEnrichmentTCIRG11.52
284Meier-gorlin syndrome 1EnrichmentFGFR21.50
285Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.50
286Primary bone dysplasiaEnrichmentFGFR31.50
287Pectus excavatumEnrichmentPTPN111.45
288Leukemia, acute lymphoblasticEnrichmentFLT31.45
289OsteochondrodysplasiaEnrichmentFGFR31.45
290EpicanthusEnrichmentPTPN111.42
291Septooptic dysplasiaEnrichmentFGFR11.42
292Renal hypodysplasia/aplasia 3EnrichmentFGFR31.42
293MeningiomaEnrichmentPIK3CA1.42
294Congenital long qt syndromeEnrichmentPTPN111.42
295MicrocephalyEnrichmentATP6V0A1, MAPK1, PTPN111.42
296Pulmonary disease, chronic obstructiveEnrichmentPDE3B1.38
297Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.35
298Immunodeficiency 47EnrichmentATP6AP11.32
299Severe congenital neutropeniaEnrichmentTCIRG11.32
300HydrocephalusEnrichmentFGFR21.32
301Septopreoptic holoprosencephalyEnrichmentFGF81.32
302Midline interhemispheric variant of holoprosencephalyEnrichmentFGF81.32
303Ovarian cancerEnrichmentKRAS, PIK3CA1.30
304Alobar holoprosencephalyEnrichmentFGF81.27
305Patent foramen ovaleEnrichmentPTPN111.25
306NephrocalcinosisEnrichmentATP6V1B11.23
307NephrolithiasisEnrichmentATP6V1B11.23
308HepatoblastomaEnrichmentFGFR31.18
309Hepatocellular carcinomaEnrichmentPIK3CA1.16
310Tooth agenesisEnrichmentFGFR11.16
311Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT31.14
312ScoliosisEnrichmentPTPN111.12
313StrabismusEnrichmentPTPN111.08
314Polydactyly, postaxial, type a1EnrichmentATP6V1B11.06
315Neuronal ceroid lipofuscinosisEnrichmentCTSD1.06
316Prostate cancerEnrichmentPIK3CA1.05
317Long qt syndrome 1EnrichmentPTPN111.03
318Connective tissue diseaseEnrichmentFGFR31.01
319Hypertrophic cardiomyopathyEnrichmentPTPN110.88
320ThrombocytopeniaEnrichmentPTPN110.84
321Non-syndromic x-linked intellectual disabilityEnrichmentATP6AP10.71
322Sensorineural hearing lossEnrichmentATP6V0A40.60
323Undetermined early-onset epileptic encephalopathyEnrichmentATP6V1A0.54
324Congenital nervous system abnormalityEnrichmentFGFR30.53
325Nervous system diseaseEnrichmentFGFR30.53
326Autism spectrum disorderEnrichmentPTPN110.52
327Inherited cancer-predisposing syndromeEnrichmentPTPN110.46
328AutismEnrichmentATP6V0A10.45
329Rare genetic deafnessEnrichmentATP6V1B10.42
330Complex neurodevelopmental disorderEnrichmentATP6V0A10.28

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