Regulation of endogenous retroelements

No Pathway Network information available for Regulation of endogenous retroelements

Pathways in the Regulation of endogenous retroelements SuperPath

#NameSourceGenes
1Regulation of endogenous retroelementsReactome
2Regulation of endogenous retroelements by KRAB-ZFP proteinsReactome

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

Disorders associated with Regulation of endogenous retroelements SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE110.79
2Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C96.32
3Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.21
4Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.21
5Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B4.21
6Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB13.96
7Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.74
8Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA23.19
9BlepharophimosisEnrichmentARID1B, SMARCA23.19
10Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA23.19
11Glioma susceptibility 1EnrichmentH3-3A, H3C12.78
12Meningioma, familialEnrichmentSMARCB1, SMARCE12.25
13Atrial heart septal defectEnrichmentACTL6A, SMARCA42.25
14Interatrial communicationEnrichmentACTL6A, SMARCA42.25
15MeningiomaEnrichmentSMARCB1, SMARCE12.17
16Spermatogenic failure, x-linked, 9EnrichmentRBBP72.10
17Gand syndromeEnrichmentGATAD2B2.10
18Polydactyly, postaxial, type a6EnrichmentZNF1412.10
19Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.10
20Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B2.10
21Wilms tumor 7EnrichmentTRIM282.10
22Rare genetic intellectual disabilityEnrichmentARID1B, DNMT3A1.98
23TorticollisEnrichmentACTL6A1.98
24Baraitser-winter syndrome 1EnrichmentACTB1.98
25Coffin-siris syndrome 5EnrichmentSMARCE11.98
26Coffin-siris syndrome 11EnrichmentSMARCD11.98
27Hydrocephalus, congenital, 5EnrichmentSMARCC11.98
28Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.98
29Heyn-sproul-jackson syndromeEnrichmentDNMT3A1.98
30Becker nevus syndromeEnrichmentACTB1.98
31Dystonia-deafness syndrome 1EnrichmentACTB1.98
32Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB11.98
33Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathyEnrichmentMORC21.98
34NeurilemmomaEnrichmentSMARCB11.98
35Coffin-siris syndrome 3EnrichmentSMARCB11.98
36Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.98
37Arid1b-related disorderEnrichmentARID1B1.98
38Ovarian small cell carcinomaEnrichmentSMARCA41.98
39Charcot-marie-tooth disease, axonal, type 2zEnrichmentMORC21.98
40Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA21.98
41Coffin-siris syndrome 7EnrichmentDPF21.98
42Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.98
43Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5EnrichmentZCCHC81.98
44Baraitser-winter syndromeEnrichmentACTB1.98
45Facial cleftEnrichmentSMARCE11.98
46Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD21.98
47Congenital smooth muscle hamartomaEnrichmentACTB1.98
48Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.98
49Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B1.93
50Sifrim-hitz-weiss syndromeEnrichmentCHD41.80
51Snijders blok-campeau syndromeEnrichmentCHD31.80
52Alopecia, androgenetic, 1EnrichmentSMARCD11.68
53TrichomegalyEnrichmentARID1B1.68
54Specific granule deficiency 1EnrichmentSMARCD21.68
55Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.68
56Schwannomatosis 1EnrichmentSMARCB11.68
57Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B1.68
58Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B1.68
59Specific granule deficiency 2EnrichmentSMARCD21.68
60Coffin-siris syndrome 8EnrichmentSMARCC21.68
61Kleefstra syndromeEnrichmentEHMT11.68
62Otosclerosis 12EnrichmentSMARCA41.68
63Coffin-siris syndrome 4EnrichmentSMARCA41.68
64Tatton-brown-rahman syndromeEnrichmentDNMT3A1.68
65Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.68
66Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA21.68
67Kleefstra syndrome due to a point mutationEnrichmentEHMT11.68
68Specific granule deficiencyEnrichmentSMARCD21.68
69Night blindness, congenital stationary, type 1bEnrichmentZNF4541.63
70Autism spectrum disorderEnrichmentARID1B, DNMT3A, EHMT1, SMARCB11.56
71Sarcoma, synovialEnrichmentSS181.51
72Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B1.51
73Coffin-siris syndrome 2EnrichmentARID1A1.51
74Umbilical herniaEnrichmentACTL6A1.51
75Atypical teratoid rhabdoid tumorEnrichmentSMARCB11.51
76Periventricular leukomalaciaEnrichmentARID1A1.51
77SchwannomatosisEnrichmentSMARCB11.51
78Night blindness, congenital stationary, type 1cEnrichmentZNF4541.41
79Aminoacylase 1 deficiencyEnrichmentACTB1.38
80Full schwannomatosisEnrichmentSMARCB11.38
81Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.38
82Complex neurodevelopmental disorderEnrichmentACTL6A, H4C3, H4C5, H4C91.38
83Wilms tumor 5EnrichmentTRIM281.33
84Myeloproliferative neoplasmEnrichmentDNMT3A1.29
85GlioblastomaEnrichmentDNMT3A1.29
86Inherited acute myeloid leukemiaEnrichmentZCCHC81.29
87Wiedemann-steiner syndromeEnrichmentARID1B1.21
88Kleefstra syndrome 1EnrichmentEHMT11.21
89Inguinal herniaEnrichmentACTL6A1.21
90HypertrichosisEnrichmentARID1B1.21
91Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A1.21
92Congenital hydrocephalusEnrichmentSMARCC11.15
93Gastroesophageal refluxEnrichmentACTL6A1.09
94NeuroblastomaEnrichmentSMARCA41.09
95Ventricular septal defectEnrichmentSMARCA41.04
96PolymicrogyriaEnrichmentEHMT11.00
97MelanomaEnrichmentDNMT3A1.00
98Specific learning disabilityEnrichmentDNMT3A0.96
99Polydactyly, postaxial, type a1EnrichmentZNF1410.95
100Wilms tumor 1EnrichmentTRIM280.95
101Myeloma, multipleEnrichmentDNMT3A, H3C10.93
102Septooptic dysplasiaEnrichmentARID1A0.93
103Hypercholesterolemia, familial, 1EnrichmentSMARCA40.89
104Nk-cell enteropathyEnrichmentSMARCB10.89
105Pituitary stalk interruption syndromeEnrichmentSMARCA20.86
106MicrocephalyEnrichmentACTB, ARID1A, ARID1B0.86
107Corpus callosum, agenesis ofEnrichmentARID1B0.84
108Familial hypercholesterolemiaEnrichmentSMARCA40.84
109Isolated corpus callosum agenesisEnrichmentARID1B0.84
110Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B0.84
111GliosarcomaEnrichmentDNMT3A0.81
112Inherited cancer-predisposing syndromeEnrichmentSMARCA4, SMARCB1, SMARCE10.79
113Cleft palate, isolatedEnrichmentSMARCA40.79
114Giant cell glioblastomaEnrichmentDNMT3A0.79
115Congenital stationary night blindnessEnrichmentZNF4540.78
116Diffuse large b-cell lymphomaEnrichmentDNMT3A0.74
117Dyskeratosis congenitaEnrichmentZCCHC80.74
118Hydrops fetalis, nonimmuneEnrichmentARID1A0.62
119Bladder cancerEnrichmentARID1A0.58
120Non-immune hydrops fetalisEnrichmentARID1A0.55
121Cerebral palsyEnrichmentSMARCA40.47
122Leukemia, acute myeloidEnrichmentDNMT3A0.46
123Body mass index quantitative trait locus 11EnrichmentDNMT3A0.39
124SchizophreniaEnrichmentEHMT10.33
125Leber plus diseaseEnrichmentZNF4540.28
126Colorectal cancerEnrichmentARID1A0.22
127Ovarian cancerEnrichmentSMARCB10.18
128Congenital nervous system abnormalityEnrichmentDNMT3A0.17
129Nervous system diseaseEnrichmentDNMT3A0.17
130Hereditary retinal dystrophyEnrichmentZNF4540.04
131Fundus dystrophyEnrichmentZNF4540.04

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