Autosomal Dominant Non-Syndromic Intellectual Disability 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MRD1 MCID: ATS383 MIFTS: 37	Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

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 mbd5 haploinsufficiency 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. Affiliated tissues include thyroid, eye and bone marrow, and related phenotypes are Decreased vesicular stomatitis virus (VSV) infection and Decreased vesicular stomatitis virus (VSV) infection

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

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 18
Autosomal Dominant Non-Syndromic Intellectual Disability 19	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	mbd5 haploinsufficiency	10.1	MBD5 EPC2
2	helix syndrome	10.0
3	robinow syndrome, autosomal dominant 1	9.9	PDCD11 DDX49
4	autosomal dominant non-syndromic intellectual disability	7.9	UTP4 UTP20 TMEM243 SCAMP1-AS1 RRP7A RBM19

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

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 vesicular stomatitis virus (VSV) infection	GR00241-A-1	9.35	DCAF13 NOP58 PWP2
2	Decreased vesicular stomatitis virus (VSV) infection	GR00241-A-2	9.35	DCAF13 PWP2
3	Decreased human parainfluenza virus type 3 (HPIV3) infection	GR00241-A-4	9.16	DCAF13 PWP2
4	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

Search Clinical Trials , 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

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

⁴⁰

Thyroid, Eye, Bone Marrow, Skin, Bone, Myeloid, Liver

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Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

(show top 50) (show all 205)

#	Title	Authors	PMID	Year
1	Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ⁶	Carvill GL...Mefford HC	23708187	2013
2	Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. ⁶	Kleefstra T...van Bokhoven H	22726846	2012
3	Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. ⁶	Wagenstaller J...Strom TM	17847001	2007
4	Postoperative Clinical Outcomes Using Standard Variables Following Levator-Mullerectomy Advancement Blepharoptosis Surgery. ⁶¹	Dryden SC...Fowler BT	33606440	2021
5	External levator resection for involutional ptosis: is intraoperative suture adjustment necessary for good outcomes? ⁶¹	Radke PM...Sires BS	32048532	2021
6	Efficacy and predictability of Muller's muscle-conjunctival resection with different tarsectomy lengths for unilateral blepharoptosis treatment. ⁶¹	Yeh SH...Wei YH	33579223	2021
7	Revisiting Anchor Epicanthoplasty in Mild to Moderate Asian Epicanthal Folds: A Clinicopathological Study. ⁶¹	Esmaeilkhanian H...Karimi N	32767037	2021
8	Augmented fascia temporalis sling for paralytic ectropion of the lower lid. ⁶¹	Bagheri A...Tavakoli M	33607927	2021
9	Effect of brimonidine tartrate 0.15% on scotopic pupil size and upper eyelid position: controlled trial. ⁶¹	Tuncer I...Cinar E	32518394	2021
10	New insight into the physiologic function of Müller's muscle. ⁶¹	Leshno A...Sagiv O	33130032	2021
11	The Function-Preserving Frontalis Orbicularis Oculi Muscle Flap for the Correction of Severe Blepharoptosis With Poor Levator Function. ⁶¹	Huang SH...Lai CS	33400770	2021
12	Effect of topical Phenylephrine on the upper eyelid crease position. ⁶¹	Queiros TSM...Sales-Sanz M	32378788	2020
13	The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family. ⁶¹	Orrico A...Caterino E	33374027	2020
14	Current Upper Blepharoplasty and Ptosis Management Practice Patterns Among The Aesthetic Society Members. ⁶¹	Vaca EE...Alghoul MS	33346340	2020
15	Effect of Congenital Lower Eyelid Epiblepharon Surgery on Asymmetric Margin Reflex Distance 1. ⁶¹	Yang MK...Khwarg SI	33249930	2020
16	Early peripheral blast cell clearance predicts minimal residual disease status and refines disease prognosis in acute myeloid leukemia. ⁶¹	Mannelli F...Bosi A	32697337	2020
17	Recurrent upper eyelid trachomatous entropion repair: long-term efficacy of a five-step approach. ⁶¹	Diab MM...Allen RC	33235346	2020
18	Outcomes of conjunctival-Müller's muscle resection surgery with and without epinephrine in local anesthetic. ⁶¹	Mohammad S...Hussain A	33153357	2020
19	Postoperative Blepharoptosis After Pars Plana Vitrectomy Procedure. ⁶¹	Abdolalizadeh P...Sedaghat A	33229954	2020
20	Surgical outcomes following Muller Muscle-Conjunctival Resection in patients with glaucoma filtering surgery. ⁶¹	Putthirangsiwong B...Rootman DB	31809630	2020
21	Single-triangle versus Fox pentagon frontalis suspension for unilateral severe congenital ptosis correction. ⁶¹	Mohammed NM...Diab MM	33045376	2020
22	Müller Muscle Conjunctiva Resection for Revision of Residual Ptosis After External Levator Advancement Surgery. ⁶¹	Ozturk Karabulut G...Taskapili M	32022751	2020
23	Outcomes After Müller Muscle Conjunctival Resection Versus External Levator Advancement in Severe Involutional Blepharoptosis. ⁶¹	Sweeney AR...Yen MT	32387434	2020
24	Prevalence and risk factors of childhood blepharoptosis in Koreans: the Korea National Health and Nutrition Examination Survey. ⁶¹	Cho BJ...Lee MJ	31772383	2020
25	Time-dependent Response of Eyelid Height with a Single Drop of 2.5% Phenylephrine in Korean Ptotic Patients. ⁶¹	Shin MK...Ahn HB	32783424	2020
26	Evaluation of intraoperative lagophthalmos formula for levator resection in congenital ptosis in Egyptian patients. ⁶¹	Rakha TM...Mandour SS	32806945	2020
27	Surgical management of ptosis in chronic progressive external ophthalmoplegia. ⁶¹	Eshaghi M...Eshaghi S	32847396	2020
28	Natural history of inflammatory and non-inflammatory dry eye in thyroid eye disease. ⁶¹	Lo C...Rootman D	32847459	2020
29	[Triamcinolone acetonide deep fornix injection for the treatment of upper eyelid retraction in patients with thyroid-associated ophthalmopathy]. ⁶¹	Luo LH...Li DM	32842335	2020
30	Increased rate of ptosis following glaucoma drainage device placement and other anterior segment surgery: a prospective analysis. ⁶¹	Roddy GW...Khanna CL	32103333	2020
31	Adult T-cell acute lymphoblastic leukemias with IL7R pathway mutations are slow-responders who do not benefit from allogeneic stem-cell transplantation. ⁶¹	Kim R...on behalf the GRAALL group	31992840	2020
32	Lagophthalmos after congenital ptosis surgery: comparison between maximal levator resection and frontalis sling operation. ⁶¹	Young SM...Woo KI	32651544	2020
33	Outcomes of Early Correction of Congenital Myogenic Ptosis Using Transconjunctival Levator Plication. ⁶¹	Zikic Z...Stamenkovic M	32801437	2020
34	Long-Term Outcomes of Upper Eyelid Loading with Platinum Segment Chains for Lagophthalmos: An Adjustable Approach. ⁶¹	Ben Artsi E...Malhotra R	31765627	2020
35	The Effect of Early Postoperative Swelling on Change in Upper Eyelid Position After External Levator Resection and Blepharoplasty. ⁶¹	Cohen LM...Rootman DB	32501883	2020
36	Changes in Lower Eyelid Position and Shape After Inferior Orbital Wall Reconstruction. ⁶¹	Choi MG...Lee JK	32028368	2020
37	Corticosteroid eyedrops induced blepharoptosis and atrophy of levator muscle. ⁶¹	Zhang X...Liu XW	32060728	2020
38	Postoperative Blepharoptosis After Modern Phacoemulsification Procedure. ⁶¹	Kashkouli MB...Karimi N	31926884	2020
39	The Effect of a Ptosis Procedure Compared to an Upper Blepharoplasty on Dry Eye Syndrome. ⁶¹	Zloto O...Ben Simon G	31770512	2020
40	Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. ⁶¹	Saonanon P...Potita P	31162982	2020
41	Mild to moderate blepharoptosis correction: Outcomes of levator aponeurosis posterior layer plication. ⁶¹	Pan E...Yu JG	32195929	2020
42	Course of upper eyelid retraction in thyroid eye disease. ⁶¹	Lee DC...Woo KI	31079052	2020
43	A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome. ⁶¹	Wang Y...Li N	32008456	2020
44	Eyebrow Elevation as a Prognostic Factor for Success of Frontalis Suspension in Severe Congenital Ptosis. ⁶¹	Awara AM...Shalaby OE	32546941	2020
45	Conjunctival Sparing Ptosis Correction by White-Line Advancement Technique. ⁶¹	Habroosh FA...Eatamadi H	32733700	2020
46	Comparison between hyaluronic acid filler and botulinum toxin type A in the treatment of thyroid upper eyelid retraction. ⁶¹	Hassan Hussien M...El-Haddad NSEM	33447731	2020
47	Surgical Predictors of Reduced Marginal Reflex Distance After Upper Blepharoplasty. ⁶¹	Putthirangsiwong B...Rootman DB	30908469	2019
48	A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. ⁶¹	Lou L...Ye J	31148484	2019
49	The effect of eyebrow stenting on the measurement of levator excursion in normal and ptotic eyelids. ⁶¹	Yeganeh A...Rootman DB	30411993	2019
50	Postoperative levator function change in patients with unilateral myogenic versus aponeurotic blepharoptosis. ⁶¹	Kashkouli MB...Moradpasandi F	31272877	2019

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Genes for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 (2 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	429.81	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵	17847001
2	EPC2	Enhancer Of Polycomb Homolog 2	Protein Coding	400	Pathogenic ⁶
3	PDCD11	Programmed Cell Death 11	Protein Coding	7.12	DISEASES inferred ¹⁵
4	UTP4	UTP4 Small Subunit Processome Component	Protein Coding	6.93	DISEASES inferred ¹⁵
5	PWP2	PWP2 Small Subunit Processome Component	Protein Coding	6.57	DISEASES inferred ¹⁵
6	RRP7A	Ribosomal RNA Processing 7 Homolog A	Protein Coding	6.55	DISEASES inferred ¹⁵
7	MPHOSPH10	M-Phase Phosphoprotein 10	Protein Coding	6.36	DISEASES inferred ¹⁵
8	RBM19	RNA Binding Motif Protein 19	Protein Coding	6.33	DISEASES inferred ¹⁵
9	DCAF13	DDB1 And CUL4 Associated Factor 13	Protein Coding	6.28	DISEASES inferred ¹⁵
10	ELAPOR2	Endosome-Lysosome Associated Apoptosis And Autophagy Regulator Family Member 2	Protein Coding	6.24	DISEASES inferred ¹⁵
11	NOL6	Nucleolar Protein 6	Protein Coding	6.21	DISEASES inferred ¹⁵
12	ABCB1	ATP Binding Cassette Subfamily B Member 1	Protein Coding	6.19	DISEASES inferred ¹⁵
13	ESF1	ESF1 Nucleolar Pre-RRNA Processing Protein Homolog	Protein Coding	6.11	DISEASES inferred ¹⁵
14	RBFA	Ribosome Binding Factor A	Protein Coding	6.1	DISEASES inferred ¹⁵
15	SCAMP1-AS1	SCAMP1 Antisense RNA 1	RNA Gene	6.06	DISEASES inferred ¹⁵
16	NOP58	NOP58 Ribonucleoprotein	Protein Coding	6	DISEASES inferred ¹⁵
17	DDX49	DEAD-Box Helicase 49	Protein Coding	5.9	DISEASES inferred ¹⁵
18	ABT1	Activator Of Basal Transcription 1	Protein Coding	5.89	DISEASES inferred ¹⁵
19	TMEM243	Transmembrane Protein 243	Protein Coding	5.89	DISEASES inferred ¹⁵
20	UTP20	UTP20 Small Subunit Processome Component	Protein Coding	5.83	DISEASES inferred ¹⁵
21	HEATR1	HEAT Repeat Containing 1	Protein Coding	5.83	DISEASES inferred ¹⁵
22	POGLUT3	Protein O-Glucosyltransferase 3	Protein Coding	5.82	DISEASES inferred ¹⁵
23	ELMOD1	ELMO Domain Containing 1	Protein Coding	5.78	DISEASES inferred ¹⁵
24	WDR46	WD Repeat Domain 46	Protein Coding	5.77	DISEASES inferred ¹⁵
25	DDX52	DExD-Box Helicase 52	Protein Coding	5.76	DISEASES inferred ¹⁵
26	WDR3	WD Repeat Domain 3	Protein Coding	5.73	DISEASES inferred ¹⁵

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Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

⁶ (show top 50) (show all 321)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MBD5	nsv513766	Deletion	Pathogenic	921
2	MBD5	MBD5, THR157GLNFSTER4	Variation	Pathogenic	60718
3	MBD5	NM_018328.4(MBD5):c.150del (p.Thr52fs)	Deletion	Pathogenic	88896	rs398122412	2:149220186-149220186	2:148462617-148462617
4	MBD5	NM_018328.4(MBD5):c.440C>G (p.Ser147Ter)	SNV	Pathogenic	267726	rs886041003	2:149225952-149225952	2:148468383-148468383
5	MBD5	NM_018328.4(MBD5):c.2299_2302del (p.Asn767fs)	Deletion	Pathogenic	406455	rs1060501153	2:149227808-149227811	2:148470239-148470242
6	MBD5	NM_018328.4(MBD5):c.4455del (p.Lys1486fs)	Deletion	Pathogenic	406452	rs1060501151	2:149270475-149270475	2:148512906-148512906
7	MBD5	NM_018328.5:c.728del	Deletion	Pathogenic	812175		2:149226238-149226238	2:148468669-148468669
8	MBD5	NC_000002.12:g.(?_148458759)_(148512941_?)del	Deletion	Pathogenic	830448		2:149216328-149270510
9	MBD5	NC_000002.12:g.(?_148458739)_(148463939_?)del	Deletion	Pathogenic	831961		2:149216308-149221508
10	MBD5	NC_000002.12:g.(?_148458739)_(148512961_?)del	Deletion	Pathogenic	832942		2:149216308-149270530
11	MBD5	NM_018328.5(MBD5):c.698del (p.Gly233fs)	Deletion	Pathogenic	841779		2:149226209-149226209	2:148468640-148468640
12	MBD5	NM_018328.4(MBD5):c.4235C>A (p.Ser1412Ter)	SNV	Pathogenic	561057	rs1559099927	2:149248135-149248135	2:148490566-148490566
13	MBD5	NM_018328.4(MBD5):c.1000del (p.Gln334fs)	Deletion	Pathogenic	665197	rs1574459612	2:149226509-149226509	2:148468940-148468940
14	MBD5	NM_018328.4(MBD5):c.2633del (p.Pro878fs)	Deletion	Pathogenic	468775	rs1553519853	2:149240791-149240791	2:148483222-148483222
15	MBD5	NM_018328.4(MBD5):c.379del (p.Ser127fs)	Deletion	Pathogenic	536672	rs1553517984	2:149221470-149221470	2:148463901-148463901
16	MBD5	NM_001378120.1(MBD5):c.535_547del (p.Gly179fs)	Deletion	Pathogenic	948874		2:149226044-149226056	2:148468475-148468487
17	MBD5	NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter)	SNV	Pathogenic	951543		2:149247630-149247630	2:148490061-148490061
18	MBD5	NM_001378120.1(MBD5):c.947del (p.Asn316fs)	Deletion	Pathogenic	966643		2:149226458-149226458	2:148468889-148468889
19	MBD5	NM_018328.4(MBD5):c.2321del (p.Pro774fs)	Deletion	Pathogenic	536673	rs1553518752	2:149227832-149227832	2:148470263-148470263
20	MBD5	NM_018328.4(MBD5):c.2586_2667del (p.Ser863fs)	Deletion	Pathogenic	576080	rs1559094754	2:149240746-149240827	2:148483177-148483258
21	MBD5	NM_001378120.1(MBD5):c.217-1G>C	SNV	Pathogenic	973733		2:149221307-149221307	2:148463738-148463738
22	MBD5	NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs)	Microsatellite	Pathogenic	206110	rs796052719	2:149226399-149226400	2:148468830-148468831
23	MBD5	NM_018328.4(MBD5):c.1025dup (p.Ser343fs)	Duplication	Pathogenic	536668	rs1553518511	2:149226535-149226536	2:148468966-148468967
24	MBD5	NM_018328.4(MBD5):c.340_347del (p.Lys114fs)	Deletion	Pathogenic	198890	rs794727928	2:149221428-149221435	2:148463859-148463866
25	MBD5	NM_018328.4(MBD5):c.397+1G>A	SNV	Pathogenic	536667	rs1553517991	2:149221489-149221489	2:148463920-148463920
26	EPC2	NC_000002.10:g.148447496_149377297del	Deletion	Pathogenic	183383		2:148731026-149660827	2:147973457-148903258
27	MBD5	NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del	Deletion	Pathogenic	183385		2:148715921-149020805	2:147958352-148263236
28	MBD5	NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)	SNV	Likely pathogenic	931316		2:149226342-149226342	2:148468773-148468773
29	MBD5	NM_001378120.1(MBD5):c.1119del (p.Val374fs)	Deletion	Likely pathogenic	977793		2:149226631-149226631	2:148469062-148469062
30	MBD5	NM_018328.4(MBD5):c.114-2A>T	SNV	Likely pathogenic	658842	rs1574451881	2:149220149-149220149	2:148462580-148462580
31	MBD5	NM_001378120.1(MBD5):c.1A>G (p.Met1Val)	SNV	Likely pathogenic	813806		2:149216328-149216328	2:148458759-148458759
32	MBD5	NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile)	SNV	Conflicting interpretations of pathogenicity	279846	rs199626531	2:149247153-149247153	2:148489584-148489584
33	MBD5	NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val)	SNV	Conflicting interpretations of pathogenicity	206103	rs752035001	2:149247439-149247439	2:148489870-148489870
34	MBD5	NM_018328.4(MBD5):c.4158C>T (p.Gly1386=)	SNV	Conflicting interpretations of pathogenicity	211440	rs543329958	2:149248058-149248058	2:148490489-148490489
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.1382G>A (p.Arg461His)	SNV	Conflicting interpretations of pathogenicity	206112	rs139964770	2:149226894-149226894	2:148469325-148469325
37	MBD5	NM_018328.4(MBD5):c.2502A>C (p.Gln834His)	SNV	Uncertain significance	389768	rs147272790	2:149228014-149228014	2:148470445-148470445
38	MBD5	NM_018328.4(MBD5):c.4033G>A (p.Val1345Ile)	SNV	Uncertain significance	206055	rs376249586	2:149247933-149247933	2:148490364-148490364
39	MBD5	NM_018328.4(MBD5):c.2213A>G (p.His738Arg)	SNV	Uncertain significance	512606	rs528789050	2:149227725-149227725	2:148470156-148470156
40	MBD5	NM_018328.4(MBD5):c.1591A>G (p.Asn531Asp)	SNV	Uncertain significance	206073	rs757922781	2:149227103-149227103	2:148469534-148469534
41	MBD5	NM_018328.4(MBD5):c.2870C>A (p.Thr957Asn)	SNV	Uncertain significance	509817	rs774999439	2:149243335-149243335	2:148485766-148485766
42	MBD5	NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu)	SNV	Uncertain significance	193727	rs114359726	2:149241000-149241000	2:148483431-148483431
43	MBD5	NM_018328.4(MBD5):c.980T>C (p.Met327Thr)	SNV	Uncertain significance	199153	rs776228346	2:149226492-149226492	2:148468923-148468923
44	MBD5	NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu)	SNV	Uncertain significance	193912	rs200985982	2:149243368-149243368	2:148485799-148485799
45	MBD5	NM_018328.4(MBD5):c.1406A>G (p.His469Arg)	SNV	Uncertain significance	199150	rs766571687	2:149226918-149226918	2:148469349-148469349
46	MBD5	NM_018328.4(MBD5):c.2311A>G (p.Ser771Gly)	SNV	Uncertain significance	515645	rs777686665	2:149227823-149227823	2:148470254-148470254
47	MBD5	NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala)	SNV	Uncertain significance	982999		2:149240772-149240772	2:148483203-148483203
48	MBD5	NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser)	SNV	Uncertain significance	846073		2:149247598-149247598	2:148490029-148490029
49	MBD5	NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp)	SNV	Uncertain significance	930565		2:149247534-149247534	2:148489965-148489965
50	MBD5	NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln)	SNV	Uncertain significance	167265	rs727503999	2:149247394-149247394	2:148489825-148489825

Sources

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

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 Generic Transcription Pathway ⁶⁵	13.29	UTP4 UTP20 RRP7A PWP2 PDCD11 NOP58
2	rRNA processing in the nucleus and cytosol ⁶⁵ Show member pathways Major pathway of rRNA processing in the nucleolus and cytosol ⁶⁵ rRNA modification in the nucleus and cytosol ⁶⁵ rRNA processing ⁶⁵	12.13	UTP4 UTP20 RRP7A PWP2 PDCD11 NOP58
3	Ribosome biogenesis in eukaryotes ³⁶	11.47	UTP4 RRP7A PWP2 NOP58 NOL6 MPHOSPH10

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GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.25	UTP4 UTP20 RBM19 PWP2 PDCD11 NOP58
2	nucleoplasm	GO:0005654	10	UTP4 UTP20 RRP7A RBM19 PWP2 PDCD11
3	chromosome	GO:0005694	9.85	UTP4 RBM19 NOL6 MPHOSPH10 MBD5
4	nucleolus	GO:0005730	9.7	UTP4 UTP20 RBM19 PWP2 PDCD11 NOP58
5	90S preribosome	GO:0030686	9.43	UTP4 UTP20
6	small nucleolar ribonucleoprotein complex	GO:0005732	9.37	NOP58 MPHOSPH10
7	UTP-C complex	GO:0034456	9.32	RRP7A NOL6
8	CURI complex	GO:0032545	9.26	RRP7A NOL6
9	small-subunit processome	GO:0032040	9.23	UTP4 UTP20 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	ribosomal small subunit assembly	GO:0000028	9.4	RRP7A PWP2
2	rRNA processing	GO:0006364	9.4	UTP4 UTP20 RRP7A RBFA PWP2 PDCD11
3	endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	GO:0000447	9.37	UTP20 ABT1
4	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	GO:0000462	9.33	UTP4 PWP2 DCAF13
5	endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	GO:0000480	9.32	UTP20 ABT1
6	endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	GO:0000472	9.26	UTP20 ABT1
7	ribosome biogenesis	GO:0042254	9.26	UTP4 NOP58 MPHOSPH10 DCAF13

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	9.44	UTP4 UTP20 RRP7A RBM19 PWP2 PDCD11

Sources

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1)

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

Classifications:

External Ids:

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Diseases in the Non-Syndromic Intellectual Disability family:

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

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

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

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

Genes for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 (2 elite genes):

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

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

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

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1