NCAM signaling for neurite out-growth

No Pathway Network information available for NCAM signaling for neurite out-growth

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

Disorders associated with NCAM signaling for neurite out-growth SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Stickler syndromeEnrichmentCOL2A1, COL9A1, COL9A2, COL9A37.78
2Multiple epiphyseal dysplasia due to collagen 9 anomalyEnrichmentCOL9A1, COL9A2, COL9A37.56
3Collagen vi-related dystrophiesEnrichmentCOL6A1, COL6A2, COL6A37.56
4Intermediate collagen vi-related muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A37.56
5Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A57.56
6Autosomal recessive stickler syndromeEnrichmentCOL9A1, COL9A2, COL9A36.96
7Bethlem muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A36.96
8Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A56.56
9Ullrich congenital muscular dystrophy 1aEnrichmentCOL6A1, COL6A2, COL6A36.56
10Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.56
11Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.56
12Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.42
13Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, SOS16.26
14Bethlem myopathy 1aEnrichmentCOL6A1, COL6A2, COL6A36.02
15Connective tissue diseaseEnrichmentCOL2A1, COL5A1, COL9A1, COL9A35.57
16Nevus, epidermalEnrichmentHRAS, KRAS, NRAS5.48
17Noonan syndrome 3EnrichmentHRAS, KRAS, SOS15.48
18Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, SOS15.46
19RasopathyEnrichmentHRAS, KRAS, NRAS, SOS15.23
20Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A54.91
21Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS4.81
22Pyropoikilocytosis, hereditaryEnrichmentSPTA1, SPTB4.67
23Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.67
24Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.67
25Ehlers-danlos syndromeEnrichmentCOL3A1, COL5A1, COL5A24.59
26Protein-deficiency anemiaEnrichmentNRAS, SPTA1, SPTB4.58
27Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A44.55
28Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A24.55
29Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A24.25
30Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A44.25
31Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A44.25
32Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.20
33Retinal detachmentEnrichmentCOL2A1, COL9A34.03
34Familial porencephalyEnrichmentCOL4A1, COL4A24.03
35Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.90
36Hereditary elliptocytosisEnrichmentSPTA1, SPTB3.90
37Ehlers-danlos syndrome, classic type, 1EnrichmentCOL5A1, COL5A23.86
38Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A23.86
39KeratoconusEnrichmentCOL4A1, COL5A23.86
40Classic ehlers-danlos syndromeEnrichmentCOL5A1, COL5A23.86
41Intervertebral disc diseaseEnrichmentCOL9A2, COL9A33.71
42Cerebral palsyEnrichmentCACNA1C, COL4A1, COL4A23.63
43MyopathyEnrichmentCOL6A1, COL6A2, COL6A33.60
44Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A53.51
45Hereditary spherocytosisEnrichmentSPTA1, SPTB3.50
46Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS3.49
47Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL3A1, COL5A1, COL5A23.48
48Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS3.36
49Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.36
50Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS3.36
51Follicular thyroid carcinomaEnrichmentHRAS, NRAS3.36
52Hemolytic anemiaEnrichmentSPTA1, SPTB3.36
53Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS3.23
54Chronic kidney diseaseEnrichmentCOL4A4, COL4A53.15
55MyopiaEnrichmentCOL2A1, COL4A43.02
56HypertensionEnrichmentCOL4A4, COL4A52.96
57Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS2.87
58Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A52.77
59Spastic ataxiaEnrichmentCACNA1G, CACNB4, SPTAN12.72
60Brugada syndromeEnrichmentCACNA1C, CACNB22.54
61Heart, malformation ofEnrichmentCOL2A1, MAPK12.51
62Stickler syndrome, type iEnrichmentCOL2A12.51
63Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.51
64Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.51
65Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.51
66Alport syndrome 1, x-linkedEnrichmentCOL4A52.51
67Fatal familial insomniaEnrichmentPRNP2.51
68Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.51
69Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.51
70Czech dysplasiaEnrichmentCOL2A12.51
71Epilepsy, idiopathic generalized 9EnrichmentCACNB42.51
72Brugada syndrome 4EnrichmentCACNB22.51
73Kniest dysplasiaEnrichmentCOL2A12.51
74Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.51
75Gerstmann-straussler diseaseEnrichmentPRNP2.51
76Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.51
77KuruEnrichmentPRNP2.51
78Episodic ataxia, type 5EnrichmentCACNB42.51
79Acrogeria, gottron typeEnrichmentCOL3A12.51
80Epiphyseal dysplasia, multiple, 6EnrichmentCOL9A12.51
81Achondrogenesis, type iiEnrichmentCOL2A12.51
82Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I2.51
83Epiphyseal dysplasia, multiple, 2EnrichmentCOL9A22.51
84Congenital myopathy 18EnrichmentCACNA1S2.51
85Ullrich congenital muscular dystrophy 1bEnrichmentCOL6A22.51
86Spongiform encephalopathy with neuropsychiatric featuresEnrichmentPRNP2.51
87Spondyloperipheral dysplasiaEnrichmentCOL2A12.51
88Myosclerosis, autosomal recessiveEnrichmentCOL6A22.51
89PorencephalyEnrichmentCOL4A12.51
90Ullrich congenital muscular dystrophy 1cEnrichmentCOL6A32.51
91Epiphyseal dysplasia, multiple, 3EnrichmentCOL9A32.51
92Huntington disease-like 1EnrichmentPRNP2.51
93Renal hypodysplasia/aplasia 4EnrichmentGFRA12.51
94Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.51
95Brugada syndrome 3EnrichmentCACNA1C2.51
96Epilepsy, childhood absence 6EnrichmentCACNA1H2.51
97Malignant hyperthermia 5EnrichmentCACNA1S2.51
98Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.51
99Stickler syndrome, type ivEnrichmentCOL9A12.51
100Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.51
101Familial alzheimer-like prion diseaseEnrichmentPRNP2.51
102Dystonia 27EnrichmentCOL6A32.51
103Hirschsprung disease 3EnrichmentGDNF2.51
104Spinocerebellar ataxia 42EnrichmentCACNA1G2.51
105Stickler syndrome, type vEnrichmentCOL9A22.51
106Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G2.51
107Prion diseaseEnrichmentPRNP2.51
108Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.51
109Qualitative or quantitative defects of collagen 6EnrichmentCOL6A22.51
110Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.51
111Bethlem myopathy 1bEnrichmentCOL6A22.51
112Col4a1-related disordersEnrichmentCOL4A12.51
113Bethlem myopathy 1cEnrichmentCOL6A32.51
114Retinal lattice degenerationEnrichmentCOL9A32.51
115Conn's syndromeEnrichmentCACNA1H2.51
116Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.51
117Prp systemic amyloidosisEnrichmentPRNP2.51
118Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A12.51
119Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.51
120HypochondrogenesisEnrichmentCOL2A12.51
121X-linked alport syndromeEnrichmentCOL4A52.51
122PneumothoraxEnrichmentCOL5A12.51
123Atypical timothy syndromeEnrichmentCACNA1C2.51
124Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.51
125Inherited human prion diseaseEnrichmentPRNP2.51
126DysspondyloenchondromatosisEnrichmentCOL2A12.51
127Abdominal aortic aneurysmEnrichmentCOL3A12.51
128Timothy syndrome type 2EnrichmentCACNA1C2.51
129Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.51
130Type 2 collagen-related bone disorderEnrichmentCOL2A12.51
131Timothy syndrome type 1EnrichmentCACNA1C2.51
132Inherited creutzfeldt-jakob diseaseEnrichmentPRNP2.51
133Cacna1c-related disordersEnrichmentCACNA1C2.51
134Hirschsprung disease 1EnrichmentGDNF, NRTN2.44
135Long qt syndromeEnrichmentCACNA1C, CACNA1S2.39
136Elliptocytosis 2EnrichmentSPTA12.33
137Osteoglophonic dysplasiaEnrichmentFGFR12.33
138Trigonocephaly 1EnrichmentFGFR12.33
139Oculoectodermal syndromeEnrichmentKRAS2.33
140Spinocerebellar ataxia 5EnrichmentSPTBN22.33
141Noonan syndrome 4EnrichmentSOS12.33
142Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.33
143Melanosis, neurocutaneousEnrichmentNRAS2.33
144Noonan syndrome 6EnrichmentNRAS2.33
145Noonan syndrome 13EnrichmentMAPK12.33
146Spherocytosis, type 3EnrichmentSPTA12.33
147Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN22.33
148Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN12.33
149Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.33
150Hyperpigmentation, familial progressive, 1EnrichmentSPTA12.33
151Hartsfield syndromeEnrichmentFGFR12.33
152Thrombocytopenia 6EnrichmentSRC2.33
153Spherocytosis, type 2EnrichmentSPTB2.33
154Elliptocytosis 3EnrichmentSPTB2.33
155Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.33
156Developmental delay with or without epilepsyEnrichmentSPTAN12.33
157Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.33
158Congenital pulmonary airway malformationEnrichmentKRAS2.33
159Phakomatosis pigmentokeratoticaEnrichmentHRAS2.33
160Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.33
161Neurocutaneous melanocytosisEnrichmentNRAS2.33
162Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.21
163Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.21
164Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A12.21
165Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A12.21
166Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL2A12.21
167Timothy syndromeEnrichmentCACNA1C2.21
168Legg-calve-perthes diseaseEnrichmentCOL2A12.21
169Creutzfeldt-jakob diseaseEnrichmentPRNP2.21
170Epilepsy, early-onset, 5, with or without developmental delayEnrichmentCNTN22.21
171Specific language impairment 5EnrichmentCOL4A42.21
172Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL2A12.21
173Long qt syndrome 8EnrichmentCACNA1C2.21
174Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A22.21
175Stickler syndrome, type viEnrichmentCOL9A32.21
176Fibromuscular dysplasia, multifocalEnrichmentCOL5A12.21
177Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.21
178Aortic dissectionEnrichmentCOL3A12.21
179GlomerulonephritisEnrichmentCOL4A42.21
180Familial avascular necrosis of the femoral headEnrichmentCOL2A12.21
181Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D2.21
182X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A52.21
183Bladder cancerEnrichmentHRAS, KRAS2.10
184Non-immune hydrops fetalisEnrichmentHRAS, KRAS2.04
185Mccune-albright syndromeEnrichmentCOL2A12.03
186Retinal arteries, tortuosity ofEnrichmentCOL4A12.03
187Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A12.03
188TelecanthusEnrichmentCOL5A22.03
189Brain small vessel disease 2EnrichmentCOL4A22.03
190Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A12.03
191Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1C2.03
192Pilarowski-bjornsson syndromeEnrichmentCOL4A32.03
193Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A32.03
194Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A12.03
195Hematuria, benign familial, 2EnrichmentCOL4A32.03
196Thyrotoxic periodic paralysisEnrichmentCACNA1S2.03
197Multiple epiphyseal dysplasiaEnrichmentCOL2A12.03
198Fibromatosis, gingival, 1EnrichmentSOS12.03
199Costello syndromeEnrichmentHRAS2.03
200Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN12.03
201Pulmonic stenosisEnrichmentSOS12.03
202Histiocytoma, angiomatoid fibrousEnrichmentCREB12.03
203Pfeiffer syndromeEnrichmentFGFR12.03
204Jackson-weiss syndromeEnrichmentFGFR12.03
205Chudley-mccullough syndromeEnrichmentSPTB2.03
206Neurodevelopmental disorder with hypotonia, neuropathy, and deafnessEnrichmentSPTBN42.03
207Dystonia 30EnrichmentPTPRA2.03
208Rosette-forming glioneuronal tumorEnrichmentFGFR12.03
209Congenital hemolytic anemiaEnrichmentSPTA12.03
210Interfrontal craniofaciosynostosisEnrichmentFGFR12.03
211Wooly hair nevusEnrichmentHRAS2.03
212SchizencephalyEnrichmentCOL4A11.91
213Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.91
214Frontotemporal dementia 2EnrichmentPRNP1.91
215Malignant hyperthermiaEnrichmentCACNA1S1.91
216Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.86
217Nuchal bleb, familialEnrichmentSOS11.86
218Langerhans cell histiocytosisEnrichmentNRAS1.86
219Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.86
220Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.86
221Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.86
222SpermatocytomaEnrichmentHRAS1.86
223Melanoma of soft tissueEnrichmentCREB11.86
224Leukemia, acute myeloidEnrichmentKRAS, NRAS1.83
225Myasthenic syndrome, congenital, 8EnrichmentAGRN1.81
226Heart conduction diseaseEnrichmentCACNA1C1.81
227Familial cerebral saccular aneurysmEnrichmentCOL3A11.81
228Developmental dysplasia of the hip 1EnrichmentCOL2A11.73
229Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.73
230Anterior segment dysgenesis 5EnrichmentCOL4A11.73
231Familial adult myoclonic epilepsyEnrichmentCNTN21.73
232Inguinal herniaEnrichmentCOL5A11.73
233Pain disorderEnrichmentCOL5A11.73
234Childhood absence epilepsyEnrichmentCACNA1H1.73
235Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.73
236Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.73
237Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.73
238Cardiofaciocutaneous syndromeEnrichmentKRAS1.73
239Lung sarcomatoid carcinomaEnrichmentKRAS1.73
240Pilocytic astrocytomaEnrichmentKRAS1.73
241Epidermolytic nevusEnrichmentHRAS1.73
242Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.73
243Gingival fibromatosisEnrichmentSOS11.73
244Complex neurodevelopmental disorderEnrichmentCACNA1C, CNTN2, SPTBN11.70
245Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.67
246Pervasive developmental disorderEnrichmentSPTBN11.64
247HoloprosencephalyEnrichmentFGFR11.64
248Primary hypereosinophilic syndromeEnrichmentFGFR11.64
249Rare pervasive developmental disorderEnrichmentSPTBN11.64
250Gastroesophageal refluxEnrichmentCOL5A11.61
251Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A11.61
252Orthostatic intoleranceEnrichmentCOL5A11.61
253Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.56
254Congenital central hypoventilation syndromeEnrichmentGDNF1.56
255Primary hyperaldosteronismEnrichmentCACNA1H1.56
256Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A11.56
257Renal agenesis, bilateralEnrichmentGFRA11.56
258Holoprosencephaly 1EnrichmentFGFR11.56
259Breast adenocarcinomaEnrichmentKRAS1.56
260Lung squamous cell carcinomaEnrichmentKRAS1.56
261Marfan syndromeEnrichmentCOL2A11.52
262Peters-plus syndromeEnrichmentCOL4A11.52
263MyelofibrosisEnrichmentSRC1.49
264Capillary malformation-arteriovenous malformation 1EnrichmentKRAS1.49
265Gallbladder cancerEnrichmentKRAS1.49
266Focal epilepsyEnrichmentSPTAN11.49
267Epilepsy, myoclonic juvenileEnrichmentCACNB41.47
268Epilepsy, idiopathic generalizedEnrichmentCACNA1H1.47
269Presynaptic congenital myasthenic syndromesEnrichmentAGRN1.47
270Cardiac conduction defectEnrichmentCACNA1C1.44
271Cutis laxaEnrichmentCOL5A11.44
272Postsynaptic congenital myasthenic syndromesEnrichmentAGRN1.44
273Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A11.40
274ClubfootEnrichmentCOL5A11.40
275Arteriovenous malformationEnrichmentHRAS1.39
276Hypogonadotropic hypogonadismEnrichmentFGFR11.39
277Aortic aneurysm, familial thoracic 1EnrichmentCOL3A11.37
278Walker-warburg syndromeEnrichmentCOL4A11.37
279CataractEnrichmentCOL5A11.37
280Congenital myasthenic syndromeEnrichmentAGRN1.37
281Isolated macular dystrophyEnrichmentCOL4A51.37
282Corpus callosum, agenesis ofEnrichmentCOL4A11.34
283Anterior segment dysgenesisEnrichmentCOL4A11.34
284Atypical hemolytic-uremic syndromeEnrichmentCOL4A51.34
285Isolated corpus callosum agenesisEnrichmentCOL4A11.34
286Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A11.34
287Myopathy, x-linked, with excessive autophagyEnrichmentHRAS1.34
288Specific learning disabilityEnrichmentMAPK11.30
289Beckwith-wiedemann syndromeEnrichmentCOL6A11.27
290Polycystic kidney diseaseEnrichmentCOL4A41.27
291Septooptic dysplasiaEnrichmentFGFR11.26
292Lip and oral cavity carcinomaEnrichmentHRAS1.26
293Congenital myopathyEnrichmentCACNA1S1.24
294Aortic valve disease 1EnrichmentSOS11.23
295Colorectal cancerEnrichmentNRAS, SRC1.21
296Centronuclear myopathyEnrichmentCACNA1S1.20
297Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.20
298OsteoporosisEnrichmentSRC1.20
299Lung cancer susceptibility 3EnrichmentKRAS1.20
30046,xy partial gonadal dysgenesisEnrichmentSOS11.20
301Lynch syndromeEnrichmentKRAS1.17
302Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C1.14
303ScoliosisEnrichmentCOL2A11.14
304Muscular dystrophyEnrichmentCOL6A21.14
305RhabdomyosarcomaEnrichmentHRAS1.14
306GliosarcomaEnrichmentFGFR11.14
307Microform holoprosencephalyEnrichmentFGFR11.14
308Lobar holoprosencephalyEnrichmentFGFR11.14
309Giant cell glioblastomaEnrichmentFGFR11.12
310Neuromuscular diseaseEnrichmentSPTAN11.09
311Semilobar holoprosencephalyEnrichmentFGFR11.09
312Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR11.09
313Arteriovenous malformations of the brainEnrichmentKRAS1.07
314Long qt syndrome 1EnrichmentCACNA1C1.05
315Stargardt disease 1EnrichmentCOL2A11.05
316Tooth agenesisEnrichmentFGFR11.01
317CakutEnrichmentCOL4A11.00
318Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A31.00
319Kallmann syndromeEnrichmentFGFR10.99
320Pancreatic cancerEnrichmentKRAS0.96
321Jeune thoracic dystrophyEnrichmentSPTAN10.96
322MicrocephalyEnrichmentCOL4A1, MAPK10.95
323Hydrops fetalis, nonimmuneEnrichmentHRAS0.94
324Asphyxiating thoracic dystrophyEnrichmentSPTAN10.91
325Sensorineural hearing lossEnrichmentCOL9A10.86
326Lung cancerEnrichmentKRAS0.86
327Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.85
328Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I0.84
329Developmental and epileptic encephalopathyEnrichmentSPTAN10.81
330Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.76
331Hereditary spastic paraplegiaEnrichmentSPTAN10.75
332Centralopathic epilepsyEnrichmentSPTAN10.74
333Gastric cancerEnrichmentKRAS0.74
334West syndromeEnrichmentSPTAN10.73
335Hereditary breast carcinomaEnrichmentKRAS0.73
336ThrombocytopeniaEnrichmentSRC0.70
337Rare genetic deafnessEnrichmentCOL4A50.66
338Hereditary retinal dystrophyEnrichmentCOL2A1, COL9A10.65
339Fundus dystrophyEnrichmentCOL2A1, COL9A10.65
340Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.65
341Myeloma, multipleEnrichmentKRAS0.64
342Breast cancerEnrichmentKRAS0.53
343Ovarian cancerEnrichmentKRAS0.42

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