Regulation of retinoblastoma protein

No Pathway Network information available for Regulation of retinoblastoma protein

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

Disorders associated with Regulation of retinoblastoma protein SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Inherited cancer-predisposing syndromeEnrichmentCDK4, CDKN1B, CDKN2A, MET, MITF, RB1, SMARCA4, SMARCB17.21
2Lip and oral cavity carcinomaEnrichmentABL1, CDKN2A, RB14.85
3Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB14.78
4Papillary renal cell carcinomaEnrichmentMET, MITF4.78
5Melanoma, cutaneous malignant 1EnrichmentCDK4, CDKN2A, MITF4.36
6Dedifferentiated liposarcomaEnrichmentCDK4, MDM24.30
7Well-differentiated liposarcomaEnrichmentCDK4, MDM24.30
8Ovarian cancerEnrichmentCDKN1B, CDKN2A, MET, RB1, SMARCB14.23
9Bladder cancerEnrichmentCDKN1A, CDKN2A, RB13.65
10Li-fraumeni syndromeEnrichmentCDKN2A, MDM23.60
11Waardenburg syndromeEnrichmentMITF, PAX33.60
12Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B3.46
13Waardenburg syndrome, type 1EnrichmentMITF, PAX33.46
14B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, CDKN2A3.46
15MelanomaEnrichmentCDKN2A, MITF3.13
16Coffin-siris syndrome 1EnrichmentSMARCA4, SMARCB12.77
17Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, CDKN2A2.40
18Craniofacial-deafness-hand syndromeEnrichmentPAX32.38
19Waardenburg syndrome, type 3EnrichmentPAX32.38
20Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF12.38
21Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalitiesEnrichmentGSC2.38
22Dystonia 3, torsion, x-linkedEnrichmentTAF12.38
23Noonan syndrome 5EnrichmentRAF12.38
24Melanoma, cutaneous malignant 3EnrichmentCDK42.38
25Heterochromia iridisEnrichmentMITF2.38
26Tietz albinism-deafness syndromeEnrichmentMITF2.38
27Cardiomyopathy, dilated, 1nnEnrichmentRAF12.38
28Accelerated tumor formationEnrichmentMDM22.38
29Agammaglobulinemia 10, autosomal dominantEnrichmentSPI12.38
30Lessel-kubisch syndromeEnrichmentMDM22.38
31Osteofibrous dysplasiaEnrichmentMET2.38
32Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.38
33Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnessEnrichmentMITF2.38
34Deafness, autosomal recessive 97EnrichmentMET2.38
35Camurati-engelmann disease 2EnrichmentTGFB22.38
36Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB12.38
37Neuroendocrine tumorEnrichmentCDKN1B2.38
38Autism 9EnrichmentMET2.38
39Leopard syndrome 2EnrichmentRAF12.38
40Congenital myopathy 17EnrichmentMYOD12.38
41NeurilemmomaEnrichmentSMARCB12.38
42Coffin-siris syndrome 3EnrichmentSMARCB12.38
43Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.38
44Ovarian small cell carcinomaEnrichmentSMARCA42.38
45Congenital myopathy 14EnrichmentMYL12.38
46TrigonitisEnrichmentRAF12.38
47Trilateral retinoblastomaEnrichmentRB12.38
48Arthrogryposis, distal, type 11EnrichmentMET2.38
49Cdkn2a cancer predispositionEnrichmentCDKN2A2.38
50Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.38
51X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF12.38
525q14.3 microdeletion syndromeEnrichmentMEF2C2.38
53AgammaglobulinemiaEnrichmentSPI12.38
54Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.38
55Mef2c-related disorderEnrichmentMEF2C2.38
56Lung oat cell carcinomaEnrichmentRB12.38
57Melanoma-astrocytoma syndromeEnrichmentCDKN2A2.08
58Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX22.08
59Carotid intimal medial thickness 1EnrichmentPPARG2.08
60Spinocerebellar ataxia 17EnrichmentTBP2.08
61Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA42.08
62Schwannomatosis 1EnrichmentSMARCB12.08
63Melanoma, cutaneous malignant 2EnrichmentCDKN2A2.08
64Chromosome 13q14 deletion syndromeEnrichmentRB12.08
65Multiple endocrine neoplasia, type ivEnrichmentCDKN1B2.08
66Congenital heart defects and skeletal malformations syndromeEnrichmentABL12.08
67Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP12.08
68Melanoma, cutaneous malignant 8EnrichmentMITF2.08
69Childhood hepatocellular carcinomaEnrichmentMET2.08
70Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT12.08
71Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A2.08
72Loeys-dietz syndrome 4EnrichmentTGFB22.08
73Otosclerosis 12EnrichmentSMARCA42.08
74Coffin-siris syndrome 4EnrichmentSMARCA42.08
75Houge-janssens syndrome 3EnrichmentPPP2CA2.08
76Familial partial lipodystrophyEnrichmentPPARG2.08
77Familial retinoblastomaEnrichmentRB12.08
78Cleidocranial dysplasia 1EnrichmentRUNX21.91
79RetinoblastomaEnrichmentRB11.91
80Waardenburg syndrome, type 2aEnrichmentMITF1.91
81Osteogenic sarcomaEnrichmentRB11.91
82Woolly hair, autosomal recessive 3EnrichmentRB11.91
83Neuropathy, hereditary sensory, type ieEnrichmentDNMT11.91
84Hypotrichosis 8EnrichmentRB11.91
85Atypical teratoid rhabdoid tumorEnrichmentSMARCB11.91
86Cleidocranial dysplasiaEnrichmentRUNX21.91
87Squamous cell carcinomaEnrichmentRB11.91
88T-cell acute lymphoblastic leukemiaEnrichmentABL11.91
89Bone osteosarcomaEnrichmentRB11.91
90Neurodegeneration, childhood-onset, with brain atrophyEnrichmentUBTF1.91
91SchwannomatosisEnrichmentSMARCB11.91
92Renal cell carcinomaEnrichmentMET1.91
93Gastric cancerEnrichmentCDK4, CDKN2A1.87
94Small cell cancer of the lungEnrichmentRB11.78
95Lipodystrophy, familial partial, type 3EnrichmentPPARG1.78
96Leptin deficiency or dysfunctionEnrichmentPPARG1.78
97Lynch syndrome 4EnrichmentRB11.78
98Congenital generalized lipodystrophyEnrichmentPPARG1.78
99Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.78
100Noonan syndrome with multiple lentiginesEnrichmentRAF11.78
101Primary hyperparathyroidismEnrichmentCDKN1B1.78
102Full schwannomatosisEnrichmentSMARCB11.78
103Clear cell papillary renal cell carcinomaEnrichmentMITF1.78
104Rhabdomyosarcoma 2EnrichmentPAX31.69
105Rare syndromic intellectual disabilityEnrichmentUBTF1.69
106Atrial septal defect 1EnrichmentTGFB21.61
107Myopathy, centronuclear, 1EnrichmentMYOD11.61
108Wolf-hirschhorn syndromeEnrichmentCTBP11.61
109Waardenburg syndrome, type 4aEnrichmentMITF1.61
110Adrenocortical carcinomaEnrichmentCDKN2A1.61
111Lung squamous cell carcinomaEnrichmentCDKN2A1.61
112Waardenburg syndrome, type 2eEnrichmentMITF1.54
113Leukemia, chronic myeloidEnrichmentABL11.54
114Renal cell carcinoma, papillary, 1EnrichmentMET1.54
115Noonan syndrome 3EnrichmentRAF11.54
116Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT11.54
117Pilomyxoid astrocytomaEnrichmentRAF11.54
118Moyamoya angiopathyEnrichmentABL11.54
119Arthrogryposis, distal, type 1aEnrichmentMET1.49
120Melanocytic nevus syndrome, congenitalEnrichmentRAF11.49
121NeuroblastomaEnrichmentSMARCA41.49
122Loeys-dietz syndromeEnrichmentTGFB21.44
123Ventricular septal defectEnrichmentSMARCA41.44
124Marfan syndromeEnrichmentTGFB21.39
125Autosomal non-syndromic agammaglobulinemiaEnrichmentSPI11.39
126Rare genetic deafnessEnrichmentMITF, PAX31.38
127Meningioma, familialEnrichmentSMARCB11.35
128Leukemia, acute lymphoblasticEnrichmentCDKN2A1.35
129Atrial heart septal defectEnrichmentSMARCA41.35
130Interatrial communicationEnrichmentSMARCA41.35
131MeningiomaEnrichmentSMARCB11.31
132Colorectal cancerEnrichmentMET, PPARG1.30
133Hypercholesterolemia, familial, 1EnrichmentSMARCA41.28
134Nk-cell enteropathyEnrichmentSMARCB11.28
135Lung cancer susceptibility 3EnrichmentRB11.25
136Heart diseaseEnrichmentABL11.25
137Pituitary stalk interruption syndromeEnrichmentDNMT11.25
138Renal cell carcinoma, nonpapillaryEnrichmentMET1.22
139Familial hypercholesterolemiaEnrichmentSMARCA41.22
140Noonan syndrome and noonan-related syndromeEnrichmentRAF11.22
141GliosarcomaEnrichmentPPARG1.19
142Cleft palate, isolatedEnrichmentSMARCA41.17
143Giant cell glioblastomaEnrichmentPPARG1.17
144Autism spectrum disorderEnrichmentMEF2C, SMARCB11.13
145Ehlers-danlos syndromeEnrichmentTGFB21.12
146Parkinson's diseaseEnrichmentTBP1.12
147Hepatocellular carcinomaEnrichmentMET1.06
148Noonan syndrome 1EnrichmentRAF11.04
149Ear malformationEnrichmentMITF1.02
150Parkinson disease, late-onsetEnrichmentTBP1.02
151Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.02
152Pancreatic cancerEnrichmentCDKN2A1.01
153RasopathyEnrichmentRAF10.99
154Differentiated thyroid carcinomaEnrichmentPPARG0.95
155Lung cancerEnrichmentMET0.91
156Familial hypertrophic cardiomyopathyEnrichmentRAF10.89
157Left ventricular noncompactionEnrichmentRAF10.87
158Non-syndromic genetic deafnessEnrichmentMITF0.86
159Fetal akinesia deformation sequence 1EnrichmentMYOD10.85
160Cerebral palsyEnrichmentSMARCA40.83
161Type 2 diabetes mellitusEnrichmentPPARG0.80
162Distal arthrogryposisEnrichmentMYOD10.80
163Nonsyndromic hearing lossEnrichmentMITF0.80
164Nephrotic syndromeEnrichmentRUNX20.79
165Familial thoracic aortic aneurysm and aortic dissectionEnrichmentTGFB20.78
166Body mass index quantitative trait locus 11EnrichmentPPARG0.73
167Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMITF0.71
168Spastic ataxiaEnrichmentDNMT10.71
169Familial isolated dilated cardiomyopathyEnrichmentRAF10.71
170Hereditary breast ovarian cancer syndromeEnrichmentMITF0.69
171Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.67
172Breast cancerEnrichmentJUN0.57
173Dilated cardiomyopathyEnrichmentRAF10.55
174Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMET0.51
175MicrocephalyEnrichmentABL10.40
176Complex neurodevelopmental disorderEnrichmentPPP2CA0.40

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