Chromosome Maintenance

No Pathway Network information available for Chromosome Maintenance

Pathways in the Chromosome Maintenance SuperPath

#NameSourceGenes
1Chromosome MaintenanceReactome
2Telomere MaintenanceReactome

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

Disorders associated with Chromosome Maintenance SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Dyskeratosis congenitaEnrichmentCTC1, DKC1, NHP2, NOP10, NPM1, POT1, RTEL1, TERT, TINF2, WRAP5311.14
2Hoyeraal-hreidarsson syndromeEnrichmentACD, DKC1, RTEL1, TERT, TINF29.63
3Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C96.26
4Melanoma, cutaneous malignant 1EnrichmentACD, POT1, TERF2IP, TERT5.02
5Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.17
6Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.17
7Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B4.17
8Dyskeratosis congenita, x-linkedEnrichmentDKC1, RTEL13.70
9Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.70
10Cerebroretinal microangiopathy with calcifications and cysts 1EnrichmentCTC1, STN13.70
11Interstitial lung disease 2EnrichmentRTEL1, STN1, TERT3.47
12Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT, TINF23.00
13Pulmonary fibrosisEnrichmentRTEL1, TERT3.00
14Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT, TINF22.86
15Seckel syndromeEnrichmentDNA2, PRIM12.24
16Leukemia, acute myeloidEnrichmentNPM1, RTEL1, TERT2.09
17Bloom syndromeEnrichmentBLM2.08
18Van esch-o'driscoll syndromeEnrichmentPOLA12.08
19Colorectal cancer 10EnrichmentPOLD12.08
20Dyskeratosis congenita, autosomal recessive 1EnrichmentNOP102.08
21Seckel syndrome 8EnrichmentDNA22.08
22Dyskeratosis congenita, autosomal recessive 3EnrichmentWRAP532.08
23Tumor predisposition syndrome 3EnrichmentPOT12.08
24Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA12.08
25Neurodevelopmental disorder with dystonia and seizuresEnrichmentSHQ12.08
26Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA12.08
27Intellectual disability-hypotonic facies syndrome, x-linked, 1EnrichmentATRX2.08
28Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8EnrichmentPOT12.08
29Immunodeficiency 120EnrichmentPOLD12.08
30Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2EnrichmentNOP102.08
31Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6EnrichmentDNA22.08
32Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1EnrichmentDKC12.08
33High-grade astrocytoma with piloid featuresEnrichmentPOT12.08
34Cerebroretinal microangiopathy with calcifications and cysts 3EnrichmentPOT12.08
35Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeEnrichmentPOLD12.08
36Ataxia-telangiectasia-like disorder 2EnrichmentPCNA2.08
37Immunodeficiency 96EnrichmentLIG12.08
38Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.08
39Cerebroretinal microangiopathy with calcifications and cysts 2EnrichmentSTN12.08
40Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9EnrichmentNOP102.08
41Autosomal recessive dyskeratosis congenita 4EnrichmentTERT2.08
42Dystonia 35, childhood-onsetEnrichmentSHQ12.08
43Rothmund-thomson syndrome, type 4EnrichmentDNA22.08
44Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC42.08
45Immunodeficiency 122EnrichmentPOLD32.08
46Gastric neuroendocrine neoplasmEnrichmentATRX2.08
47Spermatogenic failure, x-linked, 9EnrichmentRBBP71.99
48Microcephaly 4, primary, autosomal recessiveEnrichmentKNL11.99
49Short stature and microcephaly with genital anomaliesEnrichmentCENPT1.99
50Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.99
51Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.99
52Revesz syndromeEnrichmentTINF21.78
53Rothmund-thomson syndrome, type 2EnrichmentDNA21.78
54Alpha-thalassemia myelodysplasia syndromeEnrichmentATRX1.78
55Waardenburg syndrome, type 4cEnrichmentPOLR2F1.78
56Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT1.78
57Dyskeratosis congenita, autosomal recessive 5EnrichmentRTEL11.78
58Dyskeratosis congenita, autosomal recessive 2EnrichmentNHP21.78
59Cerebellar ataxia, neuropathy, and vestibular areflexia syndromeEnrichmentRFC11.78
60Alpha-thalassemia/impaired intellectual development syndrome, x-linkedEnrichmentATRX1.78
61Immunodeficiency, common variable, 15EnrichmentRUVBL11.78
62Werner syndromeEnrichmentWRN1.78
63Dyskeratosis congenita, autosomal dominant 3EnrichmentTINF21.78
64Autosomal dominant dyskeratosis congenita 4EnrichmentRTEL11.78
65OligodendrogliomaEnrichmentPOT11.78
66Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM11.78
67Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.78
68Melanoma, cutaneous malignant 9EnrichmentTERT1.78
69Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3EnrichmentRTEL11.78
70Idiopathic interstitial pneumoniaEnrichmentTERT1.78
71Anaplastic oligodendrogliomaEnrichmentPOT11.78
72Alpha thalassemia-x-linked intellectual disability syndromeEnrichmentATRX1.78
73Body mass index quantitative trait locus 19EnrichmentCENPO1.69
74Degenerative disc diseaseEnrichmentCENPP1.69
75Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.69
76Acute myeloid leukemia without maturationEnrichmentNPM11.69
77Lymphomatoid papulosisEnrichmentNPM11.69
78Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM11.69
79Inherited cancer-predisposing syndromeEnrichmentBLM, POLD1, POT1, WRAP531.62
80Waardenburg syndrome, type 2aEnrichmentPOLR2F1.61
81Partington syndromeEnrichmentPOLA11.61
82Dyskeratosis congenita, autosomal dominant 6EnrichmentACD1.61
83Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.61
84Alpha thalassemia-intellectual disability syndrome type 1EnrichmentATRX1.61
85Torsion dystonia 1EnrichmentSHQ11.61
86Interstitial lung diseaseEnrichmentTERT1.61
87Atypical teratoid rhabdoid tumorEnrichmentATRX1.61
88Anaplastic astrocytomaEnrichmentATRX1.61
89Macrocytic anemiaEnrichmentTERT1.61
90Childhood apraxia of speechEnrichmentRFC31.61
91Polymerase proofreading-related polyposisEnrichmentPOLD11.61
92Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT1.51
93Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentRTEL11.49
94Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.49
95Lung sarcomatoid carcinomaEnrichmentTERT1.49
96Combined oxidative phosphorylation deficiency 24EnrichmentRTEL11.49
97Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.39
98Idiopathic aplastic anemiaEnrichmentTERT1.39
99Li-fraumeni syndromeEnrichmentWRAP531.31
100Waardenburg syndrome, type 4aEnrichmentPOLR2F1.31
101Adrenocortical carcinomaEnrichmentTERT1.31
102Waardenburg syndromeEnrichmentPOLR2F1.31
103Kidney clear cell sarcomaEnrichmentTERT1.31
104Acute myeloid leukemia with maturationEnrichmentNPM11.30
105Waardenburg syndrome, type 1EnrichmentPOLR2F1.25
106Waardenburg syndrome, type 2eEnrichmentPOLR2F1.25
107Glioma susceptibility 1EnrichmentH3-3A1.19
108Isolated growth hormone deficiency, type iaEnrichmentDNA21.19
109Primary hyperaldosteronismEnrichmentATRX1.14
110Leukemia, chronic lymphocyticEnrichmentPOT11.10
111Aplastic anemiaEnrichmentTERT1.10
112Ewing sarcomaEnrichmentSMARCA51.10
113Complex neurodevelopmental disorderEnrichmentH4C3, H4C5, H4C91.08
114Combined immunodeficiencyEnrichmentPOLD11.06
115Combined t cell and b cell immunodeficiencyEnrichmentPOLD11.06
116Familial colorectal cancer type xEnrichmentPOLD11.06
117Combined t and b cell immunodeficiencyEnrichmentPOLD11.06
118MeningiomaEnrichmentTERT1.02
119MedulloblastomaEnrichmentWRN0.96
120CataractEnrichmentWRN0.96
121Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDKC10.91
122Acute promyelocytic leukemiaEnrichmentNPM10.90
123Polycystic liver diseaseEnrichmentRUVBL10.88
124Autosomal dominant polycystic liver diseaseEnrichmentRUVBL10.88
125Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.84
126Parkinson's diseaseEnrichmentRFC10.84
127Williams-beuren syndromeEnrichmentRFC20.82
128Endometrial cancerEnrichmentBLM0.80
129HepatoblastomaEnrichmentTERT0.80
130Colorectal cancerEnrichmentBLM, POLD10.79
131Hepatocellular carcinomaEnrichmentTERT0.78
132Kallmann syndromeEnrichmentPOLR2F0.76
133Parkinson disease, late-onsetEnrichmentRFC10.74
134Pancreatic cancerEnrichmentPOLD10.73
135Ovarian cancerEnrichmentBLM, WRN0.69
136Bladder cancerEnrichmentTERT0.67
137Hirschsprung disease 1EnrichmentPOLR2F0.67
138Differentiated thyroid carcinomaEnrichmentTERT0.67
139Primary autosomal recessive microcephalyEnrichmentKNL10.55
140Type 2 diabetes mellitusEnrichmentWRN0.53
141Hereditary breast carcinomaEnrichmentBLM0.51
142MicrocephalyEnrichmentATRX, SMARCA50.44
143Hereditary breast ovarian cancer syndromeEnrichmentBLM0.44
144Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentATRX0.43
145Body mass index quantitative trait locus 11EnrichmentCENPO0.39
146Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCENPP0.38
147Breast cancerEnrichmentBLM0.33
148Rare genetic deafnessEnrichmentPOLR2F0.32
149Congenital nervous system abnormalityEnrichmentATRX0.23
150Nervous system diseaseEnrichmentATRX0.23

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