MRD9
MCID: ATS390
MIFTS: 11

Autosomal Dominant Non-Syndromic Intellectual Disability 9 (MRD9)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 9

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 9:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 9 12 15
Mental Retardation, Autosomal Dominant 9 74
Mrd9 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070039
UMLS 74 C3280283

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KIF1A on chromosome 2q37.3.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 9, is also known as mental retardation, autosomal dominant 9, and has symptoms including muscle spasticity An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 9 is KIF1A (Kinesin Family Member 1A).

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 9

UMLS symptoms related to Autosomal Dominant Non-Syndromic Intellectual Disability 9:


muscle spasticity

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 9

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 9:

6 (show top 50) (show all 530)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1A NM_001244008.1(KIF1A): c.946C> T (p.Arg316Trp) single nucleotide variant Pathogenic rs672601370 GRCh38 Chromosome 2, 240775863: 240775863
2 KIF1A NM_001244008.1(KIF1A): c.946C> T (p.Arg316Trp) single nucleotide variant Pathogenic rs672601370 GRCh37 Chromosome 2, 241715280: 241715280
3 KIF1A NM_001244008.1(KIF1A): c.757G> A (p.Glu253Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs672601369 GRCh38 Chromosome 2, 240783780: 240783780
4 KIF1A NM_001244008.1(KIF1A): c.757G> A (p.Glu253Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs672601369 GRCh37 Chromosome 2, 241723197: 241723197
5 KIF1A NM_001244008.1(KIF1A): c.746T> A (p.Leu249Gln) single nucleotide variant Likely pathogenic rs672601371 GRCh38 Chromosome 2, 240783791: 240783791
6 KIF1A NM_001244008.1(KIF1A): c.746T> A (p.Leu249Gln) single nucleotide variant Likely pathogenic rs672601371 GRCh37 Chromosome 2, 241723208: 241723208
7 KIF1A NM_001244008.1(KIF1A): c.647G> C (p.Arg216Pro) single nucleotide variant Uncertain significance rs672601368 GRCh38 Chromosome 2, 240785062: 240785062
8 KIF1A NM_001244008.1(KIF1A): c.647G> C (p.Arg216Pro) single nucleotide variant Uncertain significance rs672601368 GRCh37 Chromosome 2, 241724479: 241724479
9 KIF1A NM_001244008.1(KIF1A): c.643A> C (p.Ser215Arg) single nucleotide variant Pathogenic rs672601367 GRCh38 Chromosome 2, 240785066: 240785066
10 KIF1A NM_001244008.1(KIF1A): c.643A> C (p.Ser215Arg) single nucleotide variant Pathogenic rs672601367 GRCh37 Chromosome 2, 241724483: 241724483
11 KIF1A NM_001244008.1(KIF1A): c.604G> C (p.Ala202Pro) single nucleotide variant Pathogenic/Likely pathogenic rs672601366 GRCh38 Chromosome 2, 240786339: 240786339
12 KIF1A NM_001244008.1(KIF1A): c.604G> C (p.Ala202Pro) single nucleotide variant Pathogenic/Likely pathogenic rs672601366 GRCh37 Chromosome 2, 241725756: 241725756
13 KIF1A NM_001244008.1(KIF1A): c.499C> T (p.Arg167Cys) single nucleotide variant Likely pathogenic rs672601365 GRCh38 Chromosome 2, 240786444: 240786444
14 KIF1A NM_001244008.1(KIF1A): c.499C> T (p.Arg167Cys) single nucleotide variant Likely pathogenic rs672601365 GRCh37 Chromosome 2, 241725861: 241725861
15 KIF1A NM_001244008.1(KIF1A): c.430G> T (p.Val144Phe) single nucleotide variant Likely pathogenic rs672601364 GRCh38 Chromosome 2, 240786513: 240786513
16 KIF1A NM_001244008.1(KIF1A): c.430G> T (p.Val144Phe) single nucleotide variant Likely pathogenic rs672601364 GRCh37 Chromosome 2, 241725930: 241725930
17 KIF1A NM_001244008.1(KIF1A): c.305G> A (p.Gly102Asp) single nucleotide variant Likely pathogenic rs672601363 GRCh38 Chromosome 2, 240788109: 240788109
18 KIF1A NM_001244008.1(KIF1A): c.305G> A (p.Gly102Asp) single nucleotide variant Likely pathogenic rs672601363 GRCh37 Chromosome 2, 241727526: 241727526
19 KIF1A NM_001244008.1(KIF1A): c.173C> T (p.Ser58Leu) single nucleotide variant Pathogenic rs672601362 GRCh38 Chromosome 2, 240789246: 240789246
20 KIF1A NM_001244008.1(KIF1A): c.173C> T (p.Ser58Leu) single nucleotide variant Pathogenic rs672601362 GRCh37 Chromosome 2, 241728663: 241728663
21 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
22 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh38 Chromosome 2, 240788208: 240788208
23 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh37 Chromosome 2, 241727608: 241727608
24 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh38 Chromosome 2, 240788191: 240788191
25 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh37 Chromosome 2, 241685270: 241685270
26 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh38 Chromosome 2, 240745853: 240745853
27 KIF1A NM_001244008.1(KIF1A): c.647G> A (p.Arg216His) single nucleotide variant Pathogenic rs672601368 GRCh37 Chromosome 2, 241724479: 241724479
28 KIF1A NM_001244008.1(KIF1A): c.647G> A (p.Arg216His) single nucleotide variant Pathogenic rs672601368 GRCh38 Chromosome 2, 240785062: 240785062
29 KIF1A NM_001244008.1(KIF1A): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs797045164 GRCh37 Chromosome 2, 241724480: 241724480
30 KIF1A NM_001244008.1(KIF1A): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs797045164 GRCh38 Chromosome 2, 240785063: 240785063
31 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh37 Chromosome 2, 241680767: 241680767
32 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh38 Chromosome 2, 240741350: 240741350
33 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh37 Chromosome 2, 241737132: 241737132
34 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh38 Chromosome 2, 240797715: 240797715
35 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh38 Chromosome 2, 240719868: 240719868
36 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh37 Chromosome 2, 241659285: 241659285
37 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh38 Chromosome 2, 240722517: 240722517
38 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh37 Chromosome 2, 241661934: 241661934
39 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh38 Chromosome 2, 240744058: 240744058
40 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh37 Chromosome 2, 241683475: 241683475
41 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh38 Chromosome 2, 240745767: 240745767
42 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh37 Chromosome 2, 241685184: 241685184
43 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh38 Chromosome 2, 240745866: 240745866
44 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh37 Chromosome 2, 241685283: 241685283
45 KIF1A NM_004321.7(KIF1A): c.2655G> C (p.Val885=) single nucleotide variant Conflicting interpretations of pathogenicity rs186881889 GRCh38 Chromosome 2, 240750448: 240750448
46 KIF1A NM_004321.7(KIF1A): c.2655G> C (p.Val885=) single nucleotide variant Conflicting interpretations of pathogenicity rs186881889 GRCh37 Chromosome 2, 241689865: 241689865
47 KIF1A NM_004321.7(KIF1A): c.2595C> G (p.Pro865=) single nucleotide variant Conflicting interpretations of pathogenicity rs140783695 GRCh38 Chromosome 2, 240750508: 240750508
48 KIF1A NM_004321.7(KIF1A): c.2595C> G (p.Pro865=) single nucleotide variant Conflicting interpretations of pathogenicity rs140783695 GRCh37 Chromosome 2, 241689925: 241689925
49 KIF1A NM_004321.7(KIF1A): c.2448C> T (p.Tyr816=) single nucleotide variant Conflicting interpretations of pathogenicity rs199996308 GRCh38 Chromosome 2, 240758467: 240758467
50 KIF1A NM_004321.7(KIF1A): c.2448C> T (p.Tyr816=) single nucleotide variant Conflicting interpretations of pathogenicity rs199996308 GRCh37 Chromosome 2, 241697884: 241697884

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 9

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Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 9

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 9

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