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MRD1
MCID: ATS383
MIFTS: 41

Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 1:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 1 12 15
Mental Retardation, Autosomal Dominant 1 71
Mrd1 12

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0070031
UMLS 71 C1969562
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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 1: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 1, also known as mental retardation, autosomal dominant 1, is related to hepatocellular carcinoma and helix syndrome. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 1 is MBD5 (Methyl-CpG Binding Domain Protein 5), and among its related pathways/superpathways are Gene Expression and rRNA processing in the nucleus and cytosol. The drugs Dexamethasone acetate and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include thyroid, eye and bone, and related phenotypes are Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection and Nucleoplasmic pre-40S maturation defects

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of MBD5 on chromosome 2q23.1.

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Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1 Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8 Autosomal Dominant Non-Syndromic Intellectual Disability 9
Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Non-Syndromic Intellectual Disability 27
Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatocellular carcinoma 10.2
2 helix syndrome 10.2
3 bowen-conradi syndrome 9.8 UTP4 UTP14A
4 robinow syndrome, autosomal dominant 1 9.4 PDCD11 DDX52 DDX49
5 robinow syndrome 9.3 PDCD11 DDX52 DDX49
6 autosomal dominant non-syndromic intellectual disability 5.7 UTP4 UTP14A RRP7A RBM19 RBFA PWP2

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 1:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 1
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Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection GR00233-A-1 9.65 HEATR1 NOL6 NOP58 UTP14A UTP4
2 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.65 DDX49 DHX37 MPHOSPH10 NOL6 NOP58 PDCD11
3 Nuclear 40S maturation defects GR00209-A-2 9.46 HEATR1 MPHOSPH10 PWP2 UTP4
4 Synthetic lethal with Ras GR00018-A-0 9.17 DDX52 HEATR1 MPHOSPH10 NOL6 PDCD11 UTP14A
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Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Drugs for Autosomal Dominant Non-Syndromic Intellectual Disability 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
2
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
3
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
4
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
5
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
7
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
8
Mercaptopurine Approved Phase 2, Phase 3 50-44-2 667490
9
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
10
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
11
Pegaspargase Approved, Investigational Phase 2, Phase 3 130167-69-0
12
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
13
Cytarabine Approved, Experimental, Investigational Phase 2, Phase 3 147-94-4, 65-46-3 6253
14
Dasatinib Approved, Investigational Phase 2, Phase 3 302962-49-8 3062316
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
16
Tyrosine Approved, Investigational, Nutraceutical Phase 2, Phase 3 60-18-4 6057
17 Antiemetics Phase 2, Phase 3
18 Gastrointestinal Agents Phase 2, Phase 3
19 Immunologic Factors Phase 2, Phase 3
20 Anti-Bacterial Agents Phase 2, Phase 3
21 HIV Protease Inhibitors Phase 2, Phase 3
22 Alkylating Agents Phase 2, Phase 3
23
protease inhibitors Phase 2, Phase 3
24 Antibiotics, Antitubercular Phase 2, Phase 3
25 Anti-Infective Agents Phase 2, Phase 3
26 Folic Acid Antagonists Phase 2, Phase 3
27 Autonomic Agents Phase 2, Phase 3
28 Hormone Antagonists Phase 2, Phase 3
29 Vitamin B Complex Phase 2, Phase 3
30 Vitamin B9 Phase 2, Phase 3
31 Antimitotic Agents Phase 2, Phase 3
32 Antiviral Agents Phase 2, Phase 3
33 Topoisomerase Inhibitors Phase 2, Phase 3
34 Anti-Inflammatory Agents Phase 2, Phase 3
35 Dermatologic Agents Phase 2, Phase 3
36 Antirheumatic Agents Phase 2, Phase 3
37
Liposomal doxorubicin Phase 2, Phase 3 31703
38 Folate Phase 2, Phase 3
39 Antineoplastic Agents, Hormonal Phase 2, Phase 3
40 Histone Deacetylase Inhibitors Phase 2, Phase 3
41 BB 1101 Phase 2, Phase 3
42 glucocorticoids Phase 2, Phase 3
43 Immunosuppressive Agents Phase 2, Phase 3
44 Antimetabolites Phase 2, Phase 3
45 Etoposide phosphate Phase 2, Phase 3
46 Hormones Phase 2, Phase 3
47 Protein Kinase Inhibitors Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Histone Deacetylase Inhibitor Chidamide Total Therapy for Adult T-lymphoblastic Lymphoma/Leukemia Recruiting NCT03564704 Phase 2, Phase 3 Dexamethasone;vincristine;Cyclophosphamide;Idarubicin;Pegaspargase;Adriamycin;Methotrexate;6-mercaptopurine.;Etoposide;Cytarabine;Chidamide
2 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Target Total Therapy for Adult Ph-like Acute Lymphoblastic Leukemia Recruiting NCT03564470 Phase 2, Phase 3 Chidamide;Dasatinib
3 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Histone Deacetylase Inhibitor Chidamide Target Total Therapy for Adult Early T-cell Progenitor Acute Lymphoblastic Leukemia/Lymphoma Recruiting NCT03553238 Phase 2, Phase 3 Chidamide;Dexamethasone;vincristine;Cyclophosphamide;Idarubicin;Pegaspargase;Adriamycin;Methotrexate;6-Mercaptopurine;Etoposide;Cytarabine
4 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478
5 Comparison Between Different Surgical Approaches for the Treatment of INVOLUTIONAL PTOSIS Not yet recruiting NCT03373812

Search NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 1:

40
Thyroid, Eye, Bone, T Cells, Bone Marrow, Skin, Testes
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Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 1:

(show top 50) (show all 171)
# Title Authors PMID Year
1
Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. 61
31162982 2020
2
Course of upper eyelid retraction in thyroid eye disease. 61
31079052 2020
3
Müller Muscle Conjunctiva Resection for Revision of Residual Ptosis After External Levator Advancement Surgery. 61
32022751 2020
4
Changes in Lower Eyelid Position and Shape After Inferior Orbital Wall Reconstruction. 61
32028368 2020
5
Postoperative Blepharoptosis after Modern Phacoemulsification Procedure. 61
31926884 2020
6
A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome. 61
32008456 2020
7
Adult T-cell acute lymphoblastic leukemias with IL7R pathway mutations are slow-responders who do not benefit from allogeneic stem-cell transplantation. 61
31992840 2020
8
Surgical outcomes following Muller Muscle-Conjunctival Resection in patients with glaucoma filtering surgery. 61
31809630 2019
9
The effect of a ptosis procedure compared to an upper blepharoplasty on dry eye syndrome. 61
31770512 2019
10
Surgical Predictors of Reduced Marginal Reflex Distance After Upper Blepharoplasty. 61
30908469 2019
11
Long term outcomes of upper eyelid loading with platinum segment chains for lagophthalmos: an adjustable approach to eyelid loading. 61
31765627 2019
12
Prevalence and risk factors of childhood blepharoptosis in Koreans: the Korea National Health and Nutrition Examination Survey. 61
31772383 2019
13
A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. 61
31148484 2019
14
The effect of eyebrow stenting on the measurement of levator excursion in normal and ptotic eyelids. 61
30411993 2019
15
Postoperative levator function change in patients with unilateral myogenic versus aponeurotic blepharoptosis. 61
31272877 2019
16
The Application of Temporal-Fasciae-Complex Sheet in Treating Severe Blepharoptosis. 61
31485765 2019
17
SNHG7 mediates cisplatin-resistance in non-small cell lung cancer by activating PI3K/AKT pathway. 61
31486493 2019
18
Surgical treatment of severe congenital ptosis using deep temporal fascia. 61
30325240 2019
19
Transconjunctival Müller's muscle Tucking Method for Non-incisional Correction of Mild Ptosis: The Effectiveness and Maintenance. 61
31037323 2019
20
The Epidemiology and Clinical Features of Blepharoptosis in Taiwanese Population. 61
30877447 2019
21
Prostaglandin analogue drops for the treatment of soft tissue expansion and exophthalmos in patients with inactive thyroid eye disease. 61
31358139 2019
22
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosis. 61
31283689 2019
23
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. 61
30049800 2019
24
Levator Pull-Out Suture Technique for Immediate Postoperative Correction of Eyelid Asymmetry After Ptosis Surgery in Asians. 61
30483936 2019
25
Three Different Anesthesia Approaches in Blepharoptosis Surgery. 61
31321168 2019
26
Simultaneous ipsilateral transconjunctival repair of upper and lower eyelid retraction in thyroid-associated ophthalmopathy. 61
29742012 2019
27
Lowering of the High Eyelid Crease in Revision Upper Eyelid Surgery. 61
30276454 2019
28
Transcaruncular rectus tendon fixation to the orbit and frontalis flap for complete third nerve palsy. 61
29543543 2019
29
Comparing the outcomes of severe versus mild/moderate ptosis using closed posterior levator advancement. 61
29842810 2019
30
The Relationship Between Eyebrow and Eyelid Position in Patients With Ptosis, Dermatochalasis and Controls. 61
30124610 2019
31
Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis. 61
30325839 2019
32
Eyelid metrics assessment in patients with chronic ocular graft versus-host disease. 61
30321606 2019
33
An Objective Evaluation of the Upper Eyelid Position after Phacoemulsification Cataract Surgery. 61
31314625 2019
34
A Modified Double Eyelid Plastic Surgery Method: Continuous Buried Suture Method Accompanied by Simultaneous Correction of Mild Blepharoptosis. 61
30141071 2018
35
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosiss. 61
30550502 2018
36
[Relation between single Nucleotide Polymorphisms of CYP3A5 Gene and MDR1 Gene Loci and Risk of CML Cytogenetic Relapse]. 61
30501698 2018
37
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. 61
30463547 2018
38
Traumatic Ptosis: Evaluation of Etiology, Management and Prognosis. 61
30479715 2018
39
Effect of iris show on perceived upper eyelid height. 61
30340711 2018
40
Relationships between eyelid position and levator-superior rectus complex and inferior rectus muscle in patients with Graves' orbitopathy with unilateral upper eyelid retraction. 61
29959506 2018
41
Association of Involutional Lower Eyelid Entropion with Reduced Upper Eyelid Position Relative to the Corneal Light Reflex: Quantification of Facial Asymmetry. 61
29342029 2018
42
Significance of Early Postoperative Eyelid Position on Late Postoperative Result in Mueller's Muscle Conjunctival Resection and External Levator Advancement Surgery. 61
29319641 2018
43
Symmetry of Upper Eyelid Contour After Unilateral Blepharoptosis Repair With a Single-strip Frontalis Suspension Technique. 61
29329174 2018
44
A novel technique for the measurement of eyelid contour to compare outcomes following Muller's muscle-conjunctival resection and external levator resection surgery. 61
29799019 2018
45
Predictors of Success Following Müller's Muscle-Conjunctival Resection. 61
29334540 2018
46
Change in Eyelid Position Following Muller's Muscle Conjunctival Resection With a Standard Versus Variable Resection Length. 61
28914711 2018
47
Efficacy of Gaze Photographs in Diagnosing Ocular Myasthenia Gravis. 61
29856158 2018
48
Assessing the Accuracy of Eyelid Measurements Utilizing the Volk Eye Check System and Clinical Measurements. 61
28863120 2018
49
Functional and aesthetic outcomes of eyelid skin grafting in facial nerve palsy. 61
29945894 2018
50
Change in eyelid parameters after orbital decompression in thyroid-associated orbitopathy. 61
29391576 2018
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Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1:

6 (show top 50) (show all 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPC2 , KIF5C , MBD5 , ORC4 NC_000002.10:g.148447496_149377297deldeletion Pathogenic 183383 2:148731026-149660827 2:147973457-148903258
2 NC_000002.10:g.146798229_150310317deldeletion Pathogenic 183384
3 MBD5 , ORC4 NC_000002.10:g.(148432391_148447295)_(148651456_148737275)deldeletion Pathogenic 183385 2:148715921-149020805 2:147958352-148263236
4 MBD5 NM_018328.4(MBD5):c.340_347del (p.Lys114fs)deletion Pathogenic 198890 rs794727928 2:149221428-149221435 2:148463859-148463866
5 MBD5 NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs)short repeat Pathogenic 206110 rs796052719 2:149226399-149226400 2:148468830-148468831
6 MBD5 nsv513766deletion Pathogenic 921
7 MBD5 MBD5, THR157GLNFSTER4undetermined variant Pathogenic 60718
8 MBD5 NM_018328.4(MBD5):c.150del (p.Thr52fs)deletion Pathogenic 88896 rs398122412 2:149220186-149220186 2:148462617-148462617
9 MBD5 NM_018328.4(MBD5):c.440C>G (p.Ser147Ter)SNV Pathogenic 267726 rs886041003 2:149225952-149225952 2:148468383-148468383
10 MBD5 NM_018328.4(MBD5):c.2299_2302del (p.Asn767fs)deletion Pathogenic 406455 rs1060501153 2:149227808-149227811 2:148470239-148470242
11 MBD5 NM_018328.4(MBD5):c.4455del (p.Lys1486fs)deletion Pathogenic 406452 rs1060501151 2:149270475-149270475 2:148512906-148512906
12 MBD5 NM_018328.4(MBD5):c.2633del (p.Pro878fs)deletion Pathogenic 468775 rs1553519853 2:149240791-149240791 2:148483222-148483222
13 MBD5 NM_018328.4(MBD5):c.397+1G>ASNV Pathogenic 536667 rs1553517991 2:149221489-149221489 2:148463920-148463920
14 MBD5 NM_018328.4(MBD5):c.1025dup (p.Ser343fs)duplication Pathogenic 536668 rs1553518511 2:149226535-149226536 2:148468966-148468967
15 MBD5 NM_018328.4(MBD5):c.379del (p.Ser127fs)deletion Pathogenic 536672 rs1553517984 2:149221470-149221470 2:148463901-148463901
16 MBD5 NM_018328.4(MBD5):c.2321del (p.Pro774fs)deletion Pathogenic 536673 rs1553518752 2:149227832-149227832 2:148470263-148470263
17 MBD5 NM_018328.4(MBD5):c.4235C>A (p.Ser1412Ter)SNV Pathogenic 561057 rs1559099927 2:149248135-149248135 2:148490566-148490566
18 MBD5 NM_018328.4(MBD5):c.2586_2667del (p.Ser863fs)deletion Pathogenic 576080 rs1559094754 2:149240746-149240827 2:148483177-148483258
19 MBD5 NM_018328.4(MBD5):c.1000del (p.Gln334fs)deletion Pathogenic 665197 2:149226509-149226509 2:148468940-148468940
20 MBD5 NM_018328.4(MBD5):c.114-2A>TSNV Likely pathogenic 658842 2:149220149-149220149 2:148462580-148462580
21 MBD5 NM_018328.4(MBD5):c.2751C>G (p.Ser917Arg)SNV Conflicting interpretations of pathogenicity 649788 2:149240911-149240911 2:148483342-148483342
22 MBD5 NM_018328.4(MBD5):c.46C>A (p.Leu16Ile)SNV Conflicting interpretations of pathogenicity 516380 rs749436847 2:149216373-149216373 2:148458804-148458804
23 MBD5 NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro)SNV Conflicting interpretations of pathogenicity 241285 rs761395486 2:149243443-149243443 2:148485874-148485874
24 MBD5 NM_018328.4(MBD5):c.2605G>A (p.Val869Ile)SNV Conflicting interpretations of pathogenicity 95901 rs116207524 2:149240765-149240765 2:148483196-148483196
25 MBD5 NM_018328.4(MBD5):c.4032C>T (p.Ser1344=)SNV Conflicting interpretations of pathogenicity 390517 rs777735514 2:149247932-149247932 2:148490363-148490363
26 MBD5 NM_018328.4(MBD5):c.2502A>C (p.Gln834His)SNV Conflicting interpretations of pathogenicity 389768 rs147272790 2:149228014-149228014 2:148470445-148470445
27 MBD5 NM_018328.4(MBD5):c.1987C>T (p.Pro663Ser)SNV Conflicting interpretations of pathogenicity 381255 rs1057520996 2:149227499-149227499 2:148469930-148469930
28 MBD5 NM_018328.4(MBD5):c.3500C>T (p.Pro1167Leu)SNV Conflicting interpretations of pathogenicity 385743 rs1057522316 2:149247400-149247400 2:148489831-148489831
29 MBD5 NM_018328.4(MBD5):c.4033G>A (p.Val1345Ile)SNV Conflicting interpretations of pathogenicity 206055 rs376249586 2:149247933-149247933 2:148490364-148490364
30 MBD5 NM_018328.4(MBD5):c.1141T>C (p.Phe381Leu)SNV Conflicting interpretations of pathogenicity 211435 rs768570356 2:149226653-149226653 2:148469084-148469084
31 MBD5 NM_018328.4(MBD5):c.2314A>C (p.Asn772His)SNV Conflicting interpretations of pathogenicity 167263 rs200151142 2:149227826-149227826 2:148470257-148470257
32 MBD5 NM_018328.4(MBD5):c.4158C>T (p.Gly1386=)SNV Conflicting interpretations of pathogenicity 211440 rs543329958 2:149248058-149248058 2:148490489-148490489
33 MBD5 NM_018328.4(MBD5):c.961A>G (p.Met321Val)SNV Conflicting interpretations of pathogenicity 206065 rs369869865 2:149226473-149226473 2:148468904-148468904
34 MBD5 NM_018328.4(MBD5):c.1382G>A (p.Arg461His)SNV Conflicting interpretations of pathogenicity 206112 rs139964770 2:149226894-149226894 2:148469325-148469325
35 MBD5 NM_018328.4(MBD5):c.2979G>C (p.Gln993His)SNV Conflicting interpretations of pathogenicity 206115 rs148321416 2:149243444-149243444 2:148485875-148485875
36 MBD5 NM_018328.4(MBD5):c.3355G>T (p.Ala1119Ser)SNV Conflicting interpretations of pathogenicity 206116 rs373177231 2:149247255-149247255 2:148489686-148489686
37 MBD5 NM_018328.4(MBD5):c.599G>A (p.Arg200Gln)SNV Conflicting interpretations of pathogenicity 199148 rs149278000 2:149226111-149226111 2:148468542-148468542
38 MBD5 NM_018328.4(MBD5):c.980T>C (p.Met327Thr)SNV Conflicting interpretations of pathogenicity 199153 rs776228346 2:149226492-149226492 2:148468923-148468923
39 MBD5 NM_018328.4(MBD5):c.884C>G (p.Thr295Ser)SNV Conflicting interpretations of pathogenicity 206064 rs368339420 2:149226396-149226396 2:148468827-148468827
40 MBD5 NM_018328.4(MBD5):c.1535C>T (p.Ser512Phe)SNV Conflicting interpretations of pathogenicity 206072 rs201695275 2:149227047-149227047 2:148469478-148469478
41 MBD5 NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr)SNV Conflicting interpretations of pathogenicity 206076 rs576930680 2:149227475-149227475 2:148469906-148469906
42 MBD5 NM_018328.4(MBD5):c.236G>A (p.Gly79Glu)SNV Conflicting interpretations of pathogenicity 198891 rs34995577 2:149221327-149221327 2:148463758-148463758
43 MBD5 NM_018328.4(MBD5):c.2279A>G (p.His760Arg)SNV Uncertain significance 199146 rs763275881 2:149227791-149227791 2:148470222-148470222
44 MBD5 NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln)SNV Uncertain significance 167265 rs727503999 2:149247394-149247394 2:148489825-148489825
45 MBD5 NM_018328.4(MBD5):c.1570C>T (p.Pro524Ser)SNV Uncertain significance 167262 rs727503998 2:149227082-149227082 2:148469513-148469513
46 MBD5 NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu)SNV Uncertain significance 193727 rs114359726 2:149241000-149241000 2:148483431-148483431
47 MBD5 NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu)SNV Uncertain significance 193912 rs200985982 2:149243368-149243368 2:148485799-148485799
48 MBD5 NM_018328.4(MBD5):c.2257C>A (p.Pro753Thr)SNV Uncertain significance 206083 rs370340010 2:149227769-149227769 2:148470200-148470200
49 MBD5 NM_018328.4(MBD5):c.2828A>G (p.Gln943Arg)SNV Uncertain significance 206090 rs377062993 2:149240988-149240988 2:148483419-148483419
50 MBD5 NM_018328.4(MBD5):c.935A>T (p.Lys312Ile)SNV Uncertain significance 206066 rs146031838 2:149226447-149226447 2:148468878-148468878
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Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 1.
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Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gene Expression 65
Show member pathways
 13.37 UTP4 UTP14A RRP7A PWP2 PDCD11 NOP58
2
rRNA processing in the nucleus and cytosol 65
Show member pathways
 12.21 UTP4 UTP14A RRP7A PWP2 PDCD11 NOP58
3
Ribosome biogenesis in eukaryotes 36
11.58 UTP4 UTP14A RRP7A PWP2 NOP58 NOL6
Sources

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.25 UTP4 UTP14A RBM19 PWP2 PDCD11 NOP58
2 nucleoplasm GO:0005654 10 UTP4 UTP14A RRP7A RBM19 PWP2 PDCD11
3 chromosome GO:0005694 9.83 UTP4 RBM19 NOL6 MPHOSPH10 MBD5
4 nucleolus GO:0005730 9.73 UTP4 UTP14A RBM19 PWP2 PDCD11 NOP58
5 fibrillar center GO:0001650 9.67 UTP4 NOP58 HEATR1
6 90S preribosome GO:0030686 9.48 UTP4 HEATR1
7 small nucleolar ribonucleoprotein complex GO:0005732 9.46 NOP58 MPHOSPH10
8 UTP-C complex GO:0034456 9.37 RRP7A NOL6
9 t-UTP complex GO:0034455 9.32 UTP4 HEATR1
10 CURI complex GO:0032545 9.26 RRP7A NOL6
11 small-subunit processome GO:0032040 9.23 UTP4 UTP14A PWP2 PDCD11 NOP58 NOL6

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribosome biogenesis GO:0042254 9.55 UTP4 UTP14A NOP58 MPHOSPH10 HEATR1
2 rRNA processing GO:0006364 9.44 UTP4 UTP14A RRP7A RBFA PWP2 PDCD11
3 ribosomal small subunit assembly GO:0000028 9.32 RRP7A PWP2
4 maturation of SSU-rRNA GO:0030490 9.26 UTP4 DDX52
5 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.26 UTP4 PWP2 HEATR1 DHX37

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.47 UTP4 UTP14A RRP7A RBM19 PWP2 PDCD11
2 helicase activity GO:0004386 9.43 DHX37 DDX52 DDX49
3 nucleic acid binding GO:0003676 9.43 RRP7A RBM19 DHX37 DDX52 DDX49 ABT1
4 RNA helicase activity GO:0003724 9.33 DHX37 DDX52 DDX49
Sources

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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