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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 Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and t cells, and related phenotype is 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 24
Autosomal Dominant Non-Syndromic Intellectual Disability 27 Autosomal Dominant Non-Syndromic Intellectual Disability 32
Autosomal Dominant Non-Syndromic Intellectual Disability 44 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 robinow syndrome, autosomal dominant 1 9.7 PDCD11 DDX49
4 autosomal dominant non-syndromic intellectual disability 5.3 UTP4 TMEM243 SCAMP1-AS1 RRP7A RBM19 RBFA

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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 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.32 NOP58
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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 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
2
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
3
Pegaspargase Approved, Investigational Phase 2, Phase 3 130167-69-0
4
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
5
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
6
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
7
Mercaptopurine Approved Phase 2, Phase 3 50-44-2 667490
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
9
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
10
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
11
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
12
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
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 Etoposide phosphate Phase 2, Phase 3
18 Hormones Phase 2, Phase 3
19 Anti-Infective Agents Phase 2, Phase 3
20 Antineoplastic Agents, Hormonal Phase 2, Phase 3
21 Vitamin B Complex Phase 2, Phase 3
22 Folic Acid Antagonists Phase 2, Phase 3
23 Hormone Antagonists Phase 2, Phase 3
24 Histone Deacetylase Inhibitors Phase 2, Phase 3
25 Antiviral Agents Phase 2, Phase 3
26 Alkylating Agents Phase 2, Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3
28 Antiemetics Phase 2, Phase 3
29 Dermatologic Agents Phase 2, Phase 3
30 Folate Phase 2, Phase 3
31 Anti-Bacterial Agents Phase 2, Phase 3
32
Liposomal doxorubicin Phase 2, Phase 3 31703
33 Gastrointestinal Agents Phase 2, Phase 3
34 Immunologic Factors Phase 2, Phase 3
35 Tubulin Modulators Phase 2, Phase 3
36 glucocorticoids Phase 2, Phase 3
37 Antibiotics, Antitubercular Phase 2, Phase 3
38 Antirheumatic Agents Phase 2, Phase 3
39 Vitamin B9 Phase 2, Phase 3
40 Antimetabolites Phase 2, Phase 3
41 Antimitotic Agents Phase 2, Phase 3
42 Anti-Inflammatory Agents Phase 2, Phase 3
43 Protein Kinase Inhibitors Phase 2, Phase 3
44
Lidocaine Approved, Vet_approved 137-58-6 3676
45
Epinephrine Approved, Vet_approved 51-43-4 5816
46
Racepinephrine Approved 329-65-7 838
47 Anesthetics
48 Epinephryl borate

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 Comparison Between Different Surgical Approaches for the Treatment of INVOLUTIONAL PTOSIS Unknown status NCT03373812
5 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478
6 Evaluation of Intraoperative Lagophthalmos Formula for Levator Resection in Congenital Ptosis on Egyptian Patients Completed NCT04291625

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
Eye, Thyroid, T Cells, Bone Marrow, Bone, 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 181)
# Title Authors PMID Year
1
Increased rate of ptosis following glaucoma drainage device placement and other anterior segment surgery: a prospective analysis. 61
32103333 2020
2
Long-Term Outcomes of Upper Eyelid Loading with Platinum Segment Chains for Lagophthalmos: An Adjustable Approach. 61
31765627 2020
3
The Effect of Early Postoperative Swelling on Change in Upper Eyelid Position After External Levator Resection and Blepharoplasty. 61
32501883 2020
4
Quantification of changes in eyelid position in patients with dry eye syndrome: A randomized, placebo-controlled multicenter study of application of topical anesthetic. 61
32563539 2020
5
Effect of brimonidine tartrate 0.15% on scotopic pupil size and upper eyelid position: controlled trial. 61
32518394 2020
6
Changes in Lower Eyelid Position and Shape After Inferior Orbital Wall Reconstruction. 61
32028368 2020
7
Corticosteroid eyedrops induced blepharoptosis and atrophy of levator muscle. 61
32060728 2020
8
Effect of topical Phenylephrine on the upper eyelid crease position. 61
32378788 2020
9
Outcomes after Müller muscle conjunctival resection versus external levator advancement in severe involutional blepharoptosis. 61
32387434 2020
10
Postoperative Blepharoptosis After Modern Phacoemulsification Procedure. 61
31926884 2020
11
The Effect of a Ptosis Procedure Compared to an Upper Blepharoplasty on Dry Eye Syndrome. 61
31770512 2020
12
Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. 61
31162982 2020
13
Mild to moderate blepharoptosis correction: Outcomes of levator aponeurosis posterior layer plication. 61
32195929 2020
14
Course of upper eyelid retraction in thyroid eye disease. 61
31079052 2020
15
Müller Muscle Conjunctiva Resection for Revision of Residual Ptosis After External Levator Advancement Surgery. 61
32022751 2020
16
External levator resection for involutional ptosis: is intraoperative suture adjustment necessary for good outcomes? 61
32048532 2020
17
Eyebrow Elevation as a Prognostic Factor for Success of Frontalis Suspension in Severe Congenital Ptosis. 61
32546941 2020
18
A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome. 61
32008456 2020
19
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
20
Surgical outcomes following Muller Muscle-Conjunctival Resection in patients with glaucoma filtering surgery. 61
31809630 2019
21
Prevalence and risk factors of childhood blepharoptosis in Koreans: the Korea National Health and Nutrition Examination Survey. 61
31772383 2019
22
Surgical Predictors of Reduced Marginal Reflex Distance After Upper Blepharoplasty. 61
30908469 2019
23
A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. 61
31148484 2019
24
The effect of eyebrow stenting on the measurement of levator excursion in normal and ptotic eyelids. 61
30411993 2019
25
Postoperative levator function change in patients with unilateral myogenic versus aponeurotic blepharoptosis. 61
31272877 2019
26
The Application of Temporal-Fasciae-Complex Sheet in Treating Severe Blepharoptosis. 61
31485765 2019
27
SNHG7 mediates cisplatin-resistance in non-small cell lung cancer by activating PI3K/AKT pathway. 61
31486493 2019
28
Surgical treatment of severe congenital ptosis using deep temporal fascia. 61
30325240 2019
29
Transconjunctival Müller's muscle Tucking Method for Non-incisional Correction of Mild Ptosis: The Effectiveness and Maintenance. 61
31037323 2019
30
The Epidemiology and Clinical Features of Blepharoptosis in Taiwanese Population. 61
30877447 2019
31
Prostaglandin analogue drops for the treatment of soft tissue expansion and exophthalmos in patients with inactive thyroid eye disease. 61
31358139 2019
32
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosis. 61
31283689 2019
33
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. 61
30049800 2019
34
Levator Pull-Out Suture Technique for Immediate Postoperative Correction of Eyelid Asymmetry After Ptosis Surgery in Asians. 61
30483936 2019
35
Three Different Anesthesia Approaches in Blepharoptosis Surgery. 61
31321168 2019
36
Simultaneous ipsilateral transconjunctival repair of upper and lower eyelid retraction in thyroid-associated ophthalmopathy. 61
29742012 2019
37
Lowering of the High Eyelid Crease in Revision Upper Eyelid Surgery. 61
30276454 2019
38
Transcaruncular rectus tendon fixation to the orbit and frontalis flap for complete third nerve palsy. 61
29543543 2019
39
Comparing the outcomes of severe versus mild/moderate ptosis using closed posterior levator advancement. 61
29842810 2019
40
The Relationship Between Eyebrow and Eyelid Position in Patients With Ptosis, Dermatochalasis and Controls. 61
30124610 2019
41
Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis. 61
30325839 2019
42
Eyelid metrics assessment in patients with chronic ocular graft versus-host disease. 61
30321606 2019
43
An Objective Evaluation of the Upper Eyelid Position after Phacoemulsification Cataract Surgery. 61
31314625 2019
44
A Modified Double Eyelid Plastic Surgery Method: Continuous Buried Suture Method Accompanied by Simultaneous Correction of Mild Blepharoptosis. 61
30141071 2018
45
[Relation between single Nucleotide Polymorphisms of CYP3A5 Gene and MDR1 Gene Loci and Risk of CML Cytogenetic Relapse]. 61
30501698 2018
46
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosiss. 61
30550502 2018
47
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. 61
30463547 2018
48
Traumatic Ptosis: Evaluation of Etiology, Management and Prognosis. 61
30479715 2018
49
Effect of iris show on perceived upper eyelid height. 61
30340711 2018
50
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
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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 274) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MBD5 NM_018328.4(MBD5):c.4455del (p.Lys1486fs)deletion Pathogenic 406452 rs1060501151 2:149270475-149270475 2:148512906-148512906
2 MBD5 NM_018328.4(MBD5):c.2299_2302del (p.Asn767fs)deletion Pathogenic 406455 rs1060501153 2:149227808-149227811 2:148470239-148470242
3 MBD5 NM_018328.4(MBD5):c.2633del (p.Pro878fs)deletion Pathogenic 468775 rs1553519853 2:149240791-149240791 2:148483222-148483222
4 MBD5 NM_018328.4(MBD5):c.397+1G>ASNV Pathogenic 536667 rs1553517991 2:149221489-149221489 2:148463920-148463920
5 MBD5 NM_018328.4(MBD5):c.1025dup (p.Ser343fs)duplication Pathogenic 536668 rs1553518511 2:149226535-149226536 2:148468966-148468967
6 MBD5 NM_018328.4(MBD5):c.379del (p.Ser127fs)deletion Pathogenic 536672 rs1553517984 2:149221470-149221470 2:148463901-148463901
7 MBD5 NM_018328.4(MBD5):c.2321del (p.Pro774fs)deletion Pathogenic 536673 rs1553518752 2:149227832-149227832 2:148470263-148470263
8 MBD5 NM_018328.4(MBD5):c.4235C>A (p.Ser1412Ter)SNV Pathogenic 561057 rs1559099927 2:149248135-149248135 2:148490566-148490566
9 MBD5 NM_018328.4(MBD5):c.2586_2667del (p.Ser863fs)deletion Pathogenic 576080 rs1559094754 2:149240746-149240827 2:148483177-148483258
10 MBD5 NM_018328.4(MBD5):c.1000del (p.Gln334fs)deletion Pathogenic 665197 2:149226509-149226509 2:148468940-148468940
11 MBD5 NC_000002.12:g.(?_148458739)_(148463939_?)deldeletion Pathogenic 831961 2:149216308-149221508
12 MBD5 NC_000002.12:g.(?_148458739)_(148512961_?)deldeletion Pathogenic 832942 2:149216308-149270530
13 MBD5 NC_000002.12:g.(?_148458759)_(148512941_?)deldeletion Pathogenic 830448 2:149216328-149270510
14 MBD5 NM_001378120.1(MBD5):c.698del (p.Gly233fs)deletion Pathogenic 841779 2:149226209-149226209 2:148468640-148468640
15 MBD5 nsv513766deletion Pathogenic 921
16 MBD5 MBD5, THR157GLNFSTER4undetermined variant Pathogenic 60718
17 MBD5 NM_018328.4(MBD5):c.150del (p.Thr52fs)deletion Pathogenic 88896 rs398122412 2:149220186-149220186 2:148462617-148462617
18 MBD5 NM_018328.5:c.728deldeletion Pathogenic 812175 2:149226238-149226238 2:148468669-148468669
19 MBD5 NM_018328.4(MBD5):c.340_347del (p.Lys114fs)deletion Pathogenic 198890 rs794727928 2:149221428-149221435 2:148463859-148463866
20 EPC2 , KIF5C , MBD5 , ORC4 NC_000002.10:g.148447496_149377297deldeletion Pathogenic 183383 2:148731026-149660827 2:147973457-148903258
21 NC_000002.10:g.146798229_150310317deldeletion Pathogenic 183384
22 MBD5 , ORC4 NC_000002.10:g.(148432391_148447295)_(148651456_148737275)deldeletion Pathogenic 183385 2:148715921-149020805 2:147958352-148263236
23 MBD5 NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs)short repeat Pathogenic 206110 rs796052719 2:149226399-149226400 2:148468830-148468831
24 MBD5 NM_018328.4(MBD5):c.440C>G (p.Ser147Ter)SNV Pathogenic 267726 rs886041003 2:149225952-149225952 2:148468383-148468383
25 MBD5 NM_001378120.1(MBD5):c.1A>G (p.Met1Val)SNV Likely pathogenic 813806 2:149216328-149216328 2:148458759-148458759
26 MBD5 NM_018328.4(MBD5):c.114-2A>TSNV Likely pathogenic 658842 2:149220149-149220149 2:148462580-148462580
27 MBD5 NM_018328.4(MBD5):c.2751C>G (p.Ser917Arg)SNV Conflicting interpretations of pathogenicity 649788 2:149240911-149240911 2:148483342-148483342
28 MBD5 NM_018328.4(MBD5):c.1198G>A (p.Val400Ile)SNV Conflicting interpretations of pathogenicity 536675 rs377568191 2:149226710-149226710 2:148469141-148469141
29 MBD5 NM_018328.4(MBD5):c.2213A>G (p.His738Arg)SNV Conflicting interpretations of pathogenicity 512606 rs528789050 2:149227725-149227725 2:148470156-148470156
30 MBD5 NM_018328.4(MBD5):c.2870C>A (p.Thr957Asn)SNV Conflicting interpretations of pathogenicity 509817 rs774999439 2:149243335-149243335 2:148485766-148485766
31 MBD5 NM_018328.4(MBD5):c.276A>G (p.Ala92=)SNV Conflicting interpretations of pathogenicity 447708 rs141855494 2:149221367-149221367 2:148463798-148463798
32 MBD5 NM_018328.4(MBD5):c.422G>A (p.Arg141Gln)SNV Conflicting interpretations of pathogenicity 449658 rs200245855 2:149225934-149225934 2:148468365-148468365
33 MBD5 NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn)SNV Conflicting interpretations of pathogenicity 95899 rs114314967 2:149227542-149227542 2:148469973-148469973
34 MBD5 NM_018328.4(MBD5):c.2605G>A (p.Val869Ile)SNV Conflicting interpretations of pathogenicity 95901 rs116207524 2:149240765-149240765 2:148483196-148483196
35 MBD5 NM_018328.4(MBD5):c.236G>A (p.Gly79Glu)SNV Conflicting interpretations of pathogenicity 198891 rs34995577 2:149221327-149221327 2:148463758-148463758
36 MBD5 NM_018328.4(MBD5):c.2279A>G (p.His760Arg)SNV Conflicting interpretations of pathogenicity 199146 rs763275881 2:149227791-149227791 2:148470222-148470222
37 MBD5 NM_018328.4(MBD5):c.796A>G (p.Ile266Val)SNV Conflicting interpretations of pathogenicity 199147 rs568826753 2:149226308-149226308 2:148468739-148468739
38 MBD5 NM_018328.4(MBD5):c.599G>A (p.Arg200Gln)SNV Conflicting interpretations of pathogenicity 199148 rs149278000 2:149226111-149226111 2:148468542-148468542
39 MBD5 NM_018328.4(MBD5):c.692T>C (p.Ile231Thr)SNV Conflicting interpretations of pathogenicity 199149 rs199530726 2:149226204-149226204 2:148468635-148468635
40 MBD5 NM_018328.4(MBD5):c.1368G>T (p.Ser456=)SNV Conflicting interpretations of pathogenicity 138174 rs146020786 2:149226880-149226880 2:148469311-148469311
41 MBD5 NM_018328.4(MBD5):c.2314A>C (p.Asn772His)SNV Conflicting interpretations of pathogenicity 167263 rs200151142 2:149227826-149227826 2:148470257-148470257
42 MBD5 NM_018328.4(MBD5):c.69G>A (p.Val23=)SNV Conflicting interpretations of pathogenicity 198228 rs151204004 2:149216396-149216396 2:148458827-148458827
43 MBD5 NM_018328.4(MBD5):c.884C>G (p.Thr295Ser)SNV Conflicting interpretations of pathogenicity 206064 rs368339420 2:149226396-149226396 2:148468827-148468827
44 MBD5 NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu)SNV Conflicting interpretations of pathogenicity 206068 rs536900412 2:149226623-149226623 2:148469054-148469054
45 MBD5 NM_018328.4(MBD5):c.1382G>A (p.Arg461His)SNV Conflicting interpretations of pathogenicity 206112 rs139964770 2:149226894-149226894 2:148469325-148469325
46 MBD5 NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg)SNV Conflicting interpretations of pathogenicity 193911 rs143028540 2:149243509-149243509 2:148485940-148485940
47 MBD5 NM_018328.4(MBD5):c.980T>C (p.Met327Thr)SNV Conflicting interpretations of pathogenicity 199153 rs776228346 2:149226492-149226492 2:148468923-148468923
48 MBD5 NM_018328.4(MBD5):c.961A>G (p.Met321Val)SNV Conflicting interpretations of pathogenicity 206065 rs369869865 2:149226473-149226473 2:148468904-148468904
49 MBD5 NM_018328.4(MBD5):c.1591A>G (p.Asn531Asp)SNV Conflicting interpretations of pathogenicity 206073 rs757922781 2:149227103-149227103 2:148469534-148469534
50 MBD5 NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr)SNV Conflicting interpretations of pathogenicity 206076 rs576930680 2:149227475-149227475 2:148469906-148469906
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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
 13.24 UTP4 RRP7A PWP2 PDCD11 NOP58 NOL6
2
rRNA processing in the nucleus and cytosol 65
Show member pathways
 12.41 UTP4 RRP7A PWP2 PDCD11 NOP58 NOL6
3
Ribosome biogenesis in eukaryotes 36
11.21 UTP4 RRP7A PWP2 NOP58 NOL6 MPHOSPH10
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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 10.27 UTP4 RBM19 PWP2 PDCD11 NOP58 NOL6
2 nucleoplasm GO:0005654 9.93 UTP4 RRP7A RBM19 PWP2 PDCD11 NOP58
3 chromosome GO:0005694 9.83 UTP4 RBM19 NOL6 MPHOSPH10 MBD5
4 fibrillar center GO:0001650 9.65 UTP4 NOP58 HEATR1
5 nucleolus GO:0005730 9.65 UTP4 RBM19 PWP2 PDCD11 NOP58 NOL6
6 90S preribosome GO:0030686 9.46 UTP4 HEATR1
7 small nucleolar ribonucleoprotein complex GO:0005732 9.4 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 9.17 UTP4 PWP2 PDCD11 NOP58 NOL6 MPHOSPH10

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 rRNA processing GO:0006364 9.36 UTP4 RRP7A RBFA PWP2 PDCD11 NOP58
2 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.33 UTP4 PWP2 HEATR1
3 ribosomal small subunit assembly GO:0000028 9.26 RRP7A PWP2
4 ribosome biogenesis GO:0042254 9.26 UTP4 NOP58 MPHOSPH10 HEATR1

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 9.4 UTP4 RRP7A RBM19 PWP2 PDCD11 NOP58
2 snoRNA binding GO:0030515 8.96 NOP58 HEATR1
Sources

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1

About this section
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
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49 NCIt
50 NDF-RT
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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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