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MRD1
MCID: ATS383
MIFTS: 33

Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 72
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 72 C1969562
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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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UniProtKB/Swiss-Prot : 74 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). The drugs Dexamethasone and Mercaptopurine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, eye and t cells.

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

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 autosomal dominant non-syndromic intellectual disability 9.7 MBD5 EXOSC8

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

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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 top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
2
Mercaptopurine Approved Phase 2, Phase 3 50-44-2 667490
3
Pegaspargase Approved, Investigational Phase 2, Phase 3 130167-69-0
4
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
5
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
6
leucovorin Approved Phase 2, Phase 3 58-05-9 143 6006
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
8
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
9
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
10
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
12
Cytarabine Approved, Experimental, Investigational Phase 2, Phase 3 147-94-4, 65-46-3 6253
13
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
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 Alkylating Agents Phase 2, Phase 3
18 Anti-Inflammatory Agents Phase 2, Phase 3
19 Gastrointestinal Agents Phase 2, Phase 3
20 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
21 Antiemetics Phase 2, Phase 3
22 Folic Acid Antagonists Phase 2, Phase 3
23 HIV Protease Inhibitors Phase 2, Phase 3
24 Hormones Phase 2, Phase 3
25
protease inhibitors Phase 2, Phase 3
26 glucocorticoids Phase 2, Phase 3
27
Liposomal doxorubicin Phase 2, Phase 3 31703
28 Anti-Infective Agents Phase 2, Phase 3
29 Topoisomerase Inhibitors Phase 2, Phase 3
30 Antibiotics, Antitubercular Phase 2, Phase 3
31 Folate Phase 2, Phase 3
32 Antineoplastic Agents, Hormonal Phase 2, Phase 3
33 Vitamin B9 Phase 2, Phase 3
34 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
35 Tubulin Modulators Phase 2, Phase 3
36 Anti-Bacterial Agents Phase 2, Phase 3
37 Vitamin B Complex Phase 2, Phase 3
38 Immunosuppressive Agents Phase 2, Phase 3
39 Histone Deacetylase Inhibitors Phase 2, Phase 3
40 Dermatologic Agents Phase 2, Phase 3
41 Hormone Antagonists Phase 2, Phase 3
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
43 Immunologic Factors Phase 2, Phase 3
44 Peripheral Nervous System Agents Phase 2, Phase 3
45 Etoposide phosphate Phase 2, Phase 3
46 Antimitotic Agents Phase 2, Phase 3
47 Autonomic Agents Phase 2, Phase 3
48 BB 1101 Phase 2, Phase 3
49 Antimetabolites Phase 2, Phase 3
50 Antimetabolites, Antineoplastic 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:

41
Thyroid, Eye, T Cells, Skin, Testes, Bone, Bone Marrow
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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 160)
# Title Authors PMID Year
1
Surgical treatment of severe congenital ptosis using deep temporal fascia. 38
30325240 2019
2
Transconjunctival Müller's muscle Tucking Method for Non-incisional Correction of Mild Ptosis: The Effectiveness and Maintenance. 38
31037323 2019
3
The Epidemiology and Clinical Features of Blepharoptosis in Taiwanese Population. 38
30877447 2019
4
Prostaglandin analogue drops for the treatment of soft tissue expansion and exophthalmos in patients with inactive thyroid eye disease. 38
31358139 2019
5
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosis. 38
31283689 2019
6
Postoperative levator function change in patients with unilateral myogenic versus aponeurotic blepharoptosis. 38
31272877 2019
7
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. 38
30049800 2019
8
Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. 38
31162982 2019
9
A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. 38
31148484 2019
10
Course of upper eyelid retraction in thyroid eye disease. 38
31079052 2019
11
Levator Pull-Out Suture Technique for Immediate Postoperative Correction of Eyelid Asymmetry After Ptosis Surgery in Asians. 38
30483936 2019
12
Three Different Anesthesia Approaches in Blepharoptosis Surgery. 38
31321168 2019
13
Simultaneous ipsilateral transconjunctival repair of upper and lower eyelid retraction in thyroid-associated ophthalmopathy. 38
29742012 2019
14
Surgical Predictors of Reduced Marginal Reflex Distance After Upper Blepharoplasty. 38
30908469 2019
15
Transcaruncular rectus tendon fixation to the orbit and frontalis flap for complete third nerve palsy. 38
29543543 2019
16
Lowering of the High Eyelid Crease in Revision Upper Eyelid Surgery. 38
30276454 2019
17
Comparing the outcomes of severe versus mild/moderate ptosis using closed posterior levator advancement. 38
29842810 2019
18
The Relationship Between Eyebrow and Eyelid Position in Patients With Ptosis, Dermatochalasis and Controls. 38
30124610 2019
19
Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis. 38
30325839 2019
20
Eyelid metrics assessment in patients with chronic ocular graft versus-host disease. 38
30321606 2019
21
An Objective Evaluation of the Upper Eyelid Position after Phacoemulsification Cataract Surgery. 38
31314625 2019
22
A Modified Double Eyelid Plastic Surgery Method: Continuous Buried Suture Method Accompanied by Simultaneous Correction of Mild Blepharoptosis. 38
30141071 2018
23
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosiss. 38
30550502 2018
24
[Relation between single Nucleotide Polymorphisms of CYP3A5 Gene and MDR1 Gene Loci and Risk of CML Cytogenetic Relapse]. 38
30501698 2018
25
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. 38
30463547 2018
26
The effect of eyebrow stenting on the measurement of levator excursion in normal and ptotic eyelids. 38
30411993 2018
27
Effect of iris show on perceived upper eyelid height. 38
30340711 2018
28
Traumatic Ptosis: Evaluation of Etiology, Management and Prognosis. 38
30479715 2018
29
Relationships between eyelid position and levator-superior rectus complex and inferior rectus muscle in patients with Graves' orbitopathy with unilateral upper eyelid retraction. 38
29959506 2018
30
Association of Involutional Lower Eyelid Entropion with Reduced Upper Eyelid Position Relative to the Corneal Light Reflex: Quantification of Facial Asymmetry. 38
29342029 2018
31
Significance of Early Postoperative Eyelid Position on Late Postoperative Result in Mueller's Muscle Conjunctival Resection and External Levator Advancement Surgery. 38
29319641 2018
32
Symmetry of Upper Eyelid Contour After Unilateral Blepharoptosis Repair With a Single-strip Frontalis Suspension Technique. 38
29329174 2018
33
A novel technique for the measurement of eyelid contour to compare outcomes following Muller's muscle-conjunctival resection and external levator resection surgery. 38
29799019 2018
34
Predictors of Success Following Müller's Muscle-Conjunctival Resection. 38
29334540 2018
35
Change in Eyelid Position Following Muller's Muscle Conjunctival Resection With a Standard Versus Variable Resection Length. 38
28914711 2018
36
Efficacy of Gaze Photographs in Diagnosing Ocular Myasthenia Gravis. 38
29856158 2018
37
Assessing the Accuracy of Eyelid Measurements Utilizing the Volk Eye Check System and Clinical Measurements. 38
28863120 2018
38
Change in eyelid parameters after orbital decompression in thyroid-associated orbitopathy. 38
29391576 2018
39
Functional and aesthetic outcomes of eyelid skin grafting in facial nerve palsy. 38
29945894 2018
40
The Effect of Upper Aging Blepharoplasty on Upper and Lower Eyelid Position. 38
29420375 2018
41
Blepharoplasty Effect on a Described Algorithmic Approach to External Ptosis Repair: Is It Time for Unbundling? 38
28520629 2018
42
Closed Posterior Levator Advancement in Severe Ptosis. 38
29922563 2018
43
Relationship between ocular dominance and brow position in patients with blepharoptosis. 38
29053045 2018
44
Maturation of the 90S pre-ribosome requires Mrd1 dependent U3 snoRNA and 35S pre-rRNA structural rearrangements. 38
29373706 2018
45
Prognostic value of multicenter flow cytometry harmonized assessment of minimal residual disease in acute myeloblastic leukemia. 38
29218734 2018
46
Endoscope-assisted harvest of autogenous fascia lata in frontalis suspension surgery: A minimally invasive approach revisited. 38
29480260 2018
47
Efficacy of autogenous fascia lata and silicone aurosling in correction of congenital blepharoptosis by frontalis suspension. 38
29652008 2018
48
Tarsal switch using an anterior approach to correct severe ptosis. 38
29566467 2018
49
Quantitative Expression of Hepatobiliary Transporters and Functional Uptake of Substrates in Hepatic Two-Dimensional Sandwich Cultures: A Comparative Evaluation of Upcyte and Primary Human Hepatocytes. 38
29212823 2018
50
Long-term effect of triamcinolone acetonide in the treatment of upper lid retraction with thyroid associated ophthalmopathy. 38
30140631 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 184)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MBD5 NM_018328.4(MBD5): c.4455del (p.Lys1486fs) deletion Pathogenic rs1060501151 2:149270480-149270480 2:148512911-148512911
2 MBD5 NM_018328.4(MBD5): c.2299_2302del (p.Asn767fs) deletion Pathogenic rs1060501153 2:149227811-149227814 2:148470242-148470245
3 MBD5 NM_018328.4(MBD5): c.2633del (p.Pro878fs) deletion Pathogenic rs1553519853 2:149240793-149240793 2:148483224-148483224
4 MBD5 NM_018328.4(MBD5): c.1025dup (p.Ser343fs) duplication Pathogenic rs1553518511 2:149226537-149226537 2:148468968-148468968
5 MBD5 NM_018328.4(MBD5): c.379del (p.Ser127fs) deletion Pathogenic rs1553517984 2:149221470-149221470 2:148463901-148463901
6 MBD5 NM_018328.4(MBD5): c.397+1G> A single nucleotide variant Pathogenic rs1553517991 2:149221489-149221489 2:148463920-148463920
7 MBD5 NM_018328.4(MBD5): c.2321del (p.Pro774fs) deletion Pathogenic rs1553518752 2:149227833-149227833 2:148470264-148470264
8 MBD5 NM_018328.4(MBD5): c.4235C> A (p.Ser1412Ter) single nucleotide variant Pathogenic 2:149248135-149248135 2:148490566-148490566
9 MBD5 nsv513766 deletion Pathogenic
10 MBD5 MBD5, THR157GLNFSTER4 undetermined variant Pathogenic
11 MBD5 NM_018328.4(MBD5): c.150del (p.Thr52fs) deletion Pathogenic rs398122412 2:149220187-149220187 2:148462618-148462618
12 EPC2 ; KIF5C ; MBD5 ; ORC4 NC_000002.10: g.148447496_149377297del deletion Pathogenic 2:148731026-149660827 2:147973457-148903258
13 NC_000002.10: g.146798229_150310317del deletion Pathogenic
14 MBD5 ; ORC4 NC_000002.10 deletion Pathogenic 2:148715921-149020805 2:147958352-148263236
15 MBD5 NM_018328.4(MBD5): c.340_347del (p.Lys114fs) deletion Pathogenic rs794727928 2:149221431-149221438 2:148463862-148463869
16 MBD5 NM_018328.4(MBD5): c.888_889TA[1] (p.Ile297fs) short repeat Pathogenic rs796052719 2:149226402-149226403 2:148468833-148468834
17 MBD5 NM_018328.4(MBD5): c.2586_2667del (p.Ser863fs) deletion Pathogenic 2:149240746-149240827 2:148483177-148483258
18 MBD5 NM_018328.4(MBD5): c.1000del (p.Gln334fs) deletion Pathogenic 2:149226512-149226512 2:148468943-148468943
19 MBD5 NM_018328.4(MBD5): c.440C> G (p.Ser147Ter) single nucleotide variant Pathogenic rs886041003 2:149225952-149225952 2:148468383-148468383
20 MBD5 NM_018328.4(MBD5): c.114-2A> T single nucleotide variant Likely pathogenic 2:149220149-149220149 2:148462580-148462580
21 MBD5 NM_018328.4(MBD5): c.884C> G (p.Thr295Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs368339420 2:149226396-149226396 2:148468827-148468827
22 MBD5 NM_018328.4(MBD5): c.3143C> T (p.Thr1048Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145475623 2:149247043-149247043 2:148489474-148489474
23 MBD5 NM_018328.4(MBD5): c.3355G> T (p.Ala1119Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs373177231 2:149247255-149247255 2:148489686-148489686
24 MBD5 NM_018328.4(MBD5): c.2399G> A (p.Gly800Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201668347 2:149227911-149227911 2:148470342-148470342
25 MBD5 NM_018328.4(MBD5): c.3595G> A (p.Gly1199Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201334086 2:149247495-149247495 2:148489926-148489926
26 MBD5 NM_018328.4(MBD5): c.1141T> C (p.Phe381Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768570356 2:149226653-149226653 2:148469084-148469084
27 MBD5 NM_018328.4(MBD5): c.3896G> A (p.Arg1299Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35934694 2:149247796-149247796 2:148490227-148490227
28 MBD5 NM_018328.4(MBD5): c.4033G> A (p.Val1345Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs376249586 2:149247933-149247933 2:148490364-148490364
29 MBD5 NM_018328.4(MBD5): c.2978A> C (p.Gln993Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs761395486 2:149243443-149243443 2:148485874-148485874
30 MBD5 NM_018328.4(MBD5): c.980T> C (p.Met327Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs776228346 2:149226492-149226492 2:148468923-148468923
31 MBD5 NM_018328.4(MBD5): c.961A> G (p.Met321Val) single nucleotide variant Conflicting interpretations of pathogenicity rs369869865 2:149226473-149226473 2:148468904-148468904
32 MBD5 NM_018328.4(MBD5): c.1111C> G (p.Gln371Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs536900412 2:149226623-149226623 2:148469054-148469054
33 MBD5 NM_018328.4(MBD5): c.1382G> A (p.Arg461His) single nucleotide variant Conflicting interpretations of pathogenicity rs139964770 2:149226894-149226894 2:148469325-148469325
34 MBD5 NM_018328.4(MBD5): c.1535C> T (p.Ser512Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201695275 2:149227047-149227047 2:148469478-148469478
35 MBD5 NM_018328.4(MBD5): c.1963G> A (p.Ala655Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs576930680 2:149227475-149227475 2:148469906-148469906
36 MBD5 NM_018328.4(MBD5): c.2162C> T (p.Pro721Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138639760 2:149227674-149227674 2:148470105-148470105
37 MBD5 NM_018328.4(MBD5): c.2979G> C (p.Gln993His) single nucleotide variant Conflicting interpretations of pathogenicity rs148321416 2:149243444-149243444 2:148485875-148485875
38 MBD5 NM_018328.4(MBD5): c.3055-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370173652 2:149246946-149246946 2:148489377-148489377
39 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 2:149221327-149221327 2:148463758-148463758
40 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 2:149226308-149226308 2:148468739-148468739
41 MBD5 NM_018328.4(MBD5): c.599G> A (p.Arg200Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149278000 2:149226111-149226111 2:148468542-148468542
42 MBD5 NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143028540 2:149243509-149243509 2:148485940-148485940
43 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 2:149216396-149216396 2:148458827-148458827
44 MBD5 NM_018328.4(MBD5): c.2314A> C (p.Asn772His) single nucleotide variant Conflicting interpretations of pathogenicity rs200151142 2:149227826-149227826 2:148470257-148470257
45 MBD5 NM_018328.4(MBD5): c.2030G> A (p.Ser677Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs114314967 2:149227542-149227542 2:148469973-148469973
46 MBD5 NM_018328.4(MBD5): c.2605G> A (p.Val869Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116207524 2:149240765-149240765 2:148483196-148483196
47 MBD5 NM_018328.4(MBD5): c.1368G> T (p.Ser456=) single nucleotide variant Conflicting interpretations of pathogenicity rs146020786 2:149226880-149226880 2:148469311-148469311
48 MBD5 NM_018328.4(MBD5): c.46C> A (p.Leu16Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs749436847 2:149216373-149216373 2:148458804-148458804
49 MBD5 NM_018328.4(MBD5): c.4032C> T (p.Ser1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs777735514 2:149247932-149247932 2:148490363-148490363
50 MBD5 NM_018328.4(MBD5): c.2502A> C (p.Gln834His) single nucleotide variant Conflicting interpretations of pathogenicity rs147272790 2:149228014-149228014 2:148470445-148470445
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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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GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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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 8.62 UTP4 EXOSC8
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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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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