7q11.23 copy number variation syndrome

No Pathway Network information available for 7q11.23 copy number variation syndrome

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

Disorders associated with 7q11.23 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Williams-beuren syndromeEnrichmentBAZ1B, BUD23, CDKN1C, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, GTF2I, GTF2IRD1, LIMK1, METTL27, RFC2, STX1A, TBL2, TMEM270, VPS37D16.00
2Autosomal dominant cutis laxaEnrichmentELN, FBLN53.95
3Familial thoracic aortic aneurysm and aortic dissectionEnrichmentELN, FBN1, PRKG12.60
4Adenosine triphosphate, elevated, of erythrocytesEnrichmentPKLR2.21
5Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN12.21
6Paget disease of bone 3EnrichmentSQSTM12.21
7Cutis laxa, autosomal recessive, type iaEnrichmentFBLN52.21
8Anemia, congenital, nonspherocytic hemolytic, 2EnrichmentPKLR2.21
9Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC62.21
10Oxoglutarate dehydrogenase deficiencyEnrichmentOGDH2.21
11Hyperlipidemia, familial combined, 1EnrichmentUSF12.21
12Macular degeneration, age-related, 3EnrichmentFBLN52.21
13Schnyder corneal dystrophyEnrichmentUBIAD12.21
14Weill-marchesani syndrome 2EnrichmentFBN12.21
15Aortic aneurysm, familial thoracic 8EnrichmentPRKG12.21
16Geleophysic dysplasia 2EnrichmentFBN12.21
17Protrusio acetabuliEnrichmentFBN12.21
18Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM12.21
19Developmental and epileptic encephalopathy 117EnrichmentSNAP252.21
20Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM12.21
21Cornelia de lange syndrome 6EnrichmentBRD42.21
22Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA2.21
23Pheochromocytoma/paraganglioma syndrome 7EnrichmentDLST2.21
24Isolated growth hormone deficiency type iiiEnrichmentBTK2.21
25Lymphoplasmacytic lymphomaEnrichmentFBN12.21
26Cutis laxa, autosomal dominant 2EnrichmentFBLN52.21
27Spastic paraplegia 53, autosomal recessiveEnrichmentVPS37A2.21
28Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP22.21
29Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP252.21
30Ataxia-telangiectasia-like disorder 2EnrichmentPCNA2.21
31Spermatogenic failure 77EnrichmentFKBP62.21
32Fraser syndrome 3EnrichmentGRIP12.21
33Charcot-marie-tooth disease, demyelinating, type 1hEnrichmentFBLN52.21
34Trilateral retinoblastomaEnrichmentRB12.21
35Adenoid ameloblastomaEnrichmentCTNNB12.21
36Neonatal marfan syndromeEnrichmentFBN12.21
37Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeEnrichmentCDKN1C2.21
38Hereditary sensorimotor neuropathy with hyperelastic skinEnrichmentFBLN52.21
39Microcystic stromal tumorEnrichmentCTNNB12.21
40Lung oat cell carcinomaEnrichmentRB12.21
41Acromicric dysplasiaEnrichmentFBN11.91
42Burkitt lymphomaEnrichmentMYC1.91
43Cutis laxa, autosomal dominant 1EnrichmentELN1.91
44Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP11.91
45Lowry-wood syndromeEnrichmentCLASP11.91
46Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.91
47Stiff skin syndromeEnrichmentFBN11.91
48Dihydrolipoamide dehydrogenase deficiencyEnrichmentDLD1.91
49Striatonigral degeneration, infantileEnrichmentNUP621.91
50Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.91
51Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.91
52Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisEnrichmentCLDN11.91
53Welander distal myopathyEnrichmentSQSTM11.91
54Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentCDKN1C1.91
55Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD1.91
56Beaulieu-boycott-innes syndromeEnrichmentFBN11.91
57Chromosome 13q14 deletion syndromeEnrichmentRB11.91
58Supravalvular aortic stenosisEnrichmentELN1.91
59Roifman syndromeEnrichmentCLASP11.91
60Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.91
61Agammaglobulinemia, x-linkedEnrichmentBTK1.91
62Microcephaly 21, primary, autosomal recessiveEnrichmentGAPDH1.91
63Nut midline carcinomaEnrichmentBRD41.91
64Childhood hepatocellular carcinomaEnrichmentCTNNB11.91
65Leber-like hereditary optic neuropathy, autosomal recessive 1EnrichmentDNAJC301.91
66Aortic dissectionEnrichmentFBN11.91
67Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN11.91
68Paget's disease of boneEnrichmentSQSTM11.91
69Rnu4atac-opathyEnrichmentCLASP11.91
70Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.91
713q26 microduplication syndromeEnrichmentBRD41.91
72TeratomaEnrichmentCTNNB11.91
73Familial retinoblastomaEnrichmentRB11.91
74Lens subluxationEnrichmentFBN11.91
75Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM11.91
76Bladder cancerEnrichmentCTNNB1, RB11.86
77Contractural arachnodactyly, congenitalEnrichmentFBN11.73
78Desmoid disease, hereditaryEnrichmentCTNNB11.73
79AchondroplasiaEnrichmentFBN11.73
80Mccune-albright syndromeEnrichmentFBN11.73
81RetinoblastomaEnrichmentRB11.73
82Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP11.73
83Menkes diseaseEnrichmentEIF2AK31.73
84Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.73
85Osteogenic sarcomaEnrichmentRB11.73
86Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.73
87Woolly hair, autosomal recessive 3EnrichmentRB11.73
88Anus, imperforateEnrichmentCTNNB11.73
89Exudative vitreoretinopathy 7EnrichmentCTNNB11.73
90Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.73
91Hypotrichosis 8EnrichmentRB11.73
92Weill-marchesani syndrome 1EnrichmentFBN11.73
93Agammaglobulinemia 1EnrichmentBTK1.73
94Autosomal recessive cutis laxa type iEnrichmentFBLN51.73
95Desmoid tumorEnrichmentCTNNB11.73
96High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.73
97Isolated ectopia lentisEnrichmentFBN11.73
98Squamous cell carcinomaEnrichmentRB11.73
99Bone osteosarcomaEnrichmentRB11.73
100Geleophysic dysplasiaEnrichmentFBN11.73
101Vogt-koyanagi-harada diseaseEnrichmentFAS1.73
102Small cell cancer of the lungEnrichmentRB11.61
103Autoimmune lymphoproliferative syndromeEnrichmentFAS1.61
104Developmental and epileptic encephalopathy 2EnrichmentSNAP251.61
105Paget disease of bone 2, early-onsetEnrichmentSQSTM11.61
106PilomatrixomaEnrichmentCTNNB11.61
107Lynch syndrome 4EnrichmentRB11.61
108Alazami syndromeEnrichmentCTNNB11.61
109Weill-marchesani syndromeEnrichmentFBN11.61
110Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.61
111Aortic aneurysmEnrichmentFBN11.61
112CraniopharyngiomaEnrichmentCTNNB11.61
113Paget's disease of bone 2EnrichmentSQSTM11.61
114Silver-russell syndrome due to a point mutationEnrichmentCDKN1C1.61
115Mitral valve insufficiencyEnrichmentFBN11.61
116Familial infantile bilateral striatal necrosisEnrichmentNUP621.61
117Optic atrophy plus syndromeEnrichmentDNAJC30, SNAP251.52
118Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN11.51
119Hyperlipidemia, familial combined, 3EnrichmentUSF11.51
120Exudative vitreoretinopathy 1EnrichmentCTNNB11.51
121Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN11.51
122Goldberg-shprintzen syndromeEnrichmentFBN11.51
123Polycystic liver disease 1EnrichmentFBN11.51
124Weyers acrofacial dysostosisEnrichmentCTNNB11.44
125Fraser syndrome 1EnrichmentGRIP11.44
126Inflammatory myofibroblastic tumorEnrichmentCLTC1.44
127Inguinal herniaEnrichmentFBN11.44
128Adrenocortical carcinomaEnrichmentCTNNB11.44
129Brugada syndrome 1EnrichmentFBN11.37
130Noonan syndrome 3EnrichmentCLTC1.37
131Renal cell carcinoma with mit translocationsEnrichmentCLTC1.37
132Gallbladder cancerEnrichmentCTNNB11.37
133Focal epilepsyEnrichmentSNAP251.37
134Hemolytic anemiaEnrichmentPKLR1.37
135Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, LIMK11.33
136Orthostatic intoleranceEnrichmentFBN11.31
137Exudative vitreoretinopathyEnrichmentCTNNB11.31
138Childhood-onset schizophreniaEnrichmentGTF2IRD11.31
139Cornelia de lange syndrome 1EnrichmentBRD41.26
140Loeys-dietz syndromeEnrichmentFBN11.26
141Adult hepatocellular carcinomaEnrichmentCTNNB11.26
142Cornelia de lange syndromeEnrichmentBRD41.26
143Familial thoracic aortic aneurysm and dissectionEnrichmentFBN11.26
144Behavioral variant of frontotemporal dementiaEnrichmentSQSTM11.26
145Marfan syndromeEnrichmentFBN11.22
146Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM11.22
147Stroke, ischemicEnrichmentFBN11.22
148MelanomaEnrichmentFBN11.22
149Pectus excavatumEnrichmentFBN11.18
150Presynaptic congenital myasthenic syndromesEnrichmentSNAP251.18
151Lactic acidosisEnrichmentDLD1.14
152Lip and oral cavity carcinomaEnrichmentRB11.14
153Diaphragmatic hernia, congenitalEnrichmentFBN11.11
154Stereotypic movement disorderEnrichmentSNAP251.11
155MedulloblastomaEnrichmentCTNNB11.08
156Aortic aneurysm, familial thoracic 1EnrichmentFBN11.08
157Lung cancer susceptibility 3EnrichmentRB11.08
158MyopiaEnrichmentFBN11.05
159Perrault syndrome 1EnrichmentFBN11.02
160Polycystic liver diseaseEnrichmentCTNNB11.00
161Syndromic intellectual disabilityEnrichmentBRD41.00
162Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.00
163Beckwith-wiedemann syndromeEnrichmentCDKN1C0.98
164Behcet syndromeEnrichmentFAS0.95
165Diffuse large b-cell lymphomaEnrichmentBTK0.95
166HepatoblastomaEnrichmentCTNNB10.91
167Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentDLST0.91
168Hepatocellular carcinomaEnrichmentCTNNB10.89
169Ovarian cancerEnrichmentCTNNB1, RB10.89
170Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.88
171ScoliosisEnrichmentFBN10.86
172MicrocephalyEnrichmentCTNNB1, SNAP250.75
173Lung cancerEnrichmentFAS0.74
174Cystic fibrosisEnrichmentSTX1A0.74
175Connective tissue diseaseEnrichmentFBN10.74
176Male infertilityEnrichmentFKBP60.72
177Developmental and epileptic encephalopathyEnrichmentSNAP250.70
178Leber hereditary optic neuropathy, modifier ofEnrichmentDNAJC300.69
179MyopathyEnrichmentFBN10.66
180Type 2 diabetes mellitusEnrichmentHMGA10.64
181Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC0.57
182HypertelorismEnrichmentELN0.56
183Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentSQSTM10.52
184AutismEnrichmentSTX1A0.44
185Dilated cardiomyopathyEnrichmentFBN10.41
186Colorectal cancerEnrichmentCTNNB10.38
187Congenital nervous system abnormalityEnrichmentCTNNB10.32
188Nervous system diseaseEnrichmentCTNNB10.32
189Inherited cancer-predisposing syndromeEnrichmentRB10.25
190Hereditary retinal dystrophyEnrichmentDNAJC300.08
191Fundus dystrophyEnrichmentDNAJC300.08

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