MRD23
MCID: MNT211
MIFTS: 35

Mental Retardation, Autosomal Dominant 23 (MRD23)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 23

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 23:

Name: Mental Retardation, Autosomal Dominant 23 57 72 29 6 70
Mrd23 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 23 12 15
Intellectual Disability-Facial Dysmorphism Syndrome Due to Setd5 Haploinsufficiency 58
Mental Retardation, Autosomal Dominant, Type 23 39
Autosomal Dominant Mental Retardation 23 12

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable dysmorphic features


HPO:

31
mental retardation, autosomal dominant 23:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 23

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 23: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 23, also known as mrd23, is related to rare genetic intellectual disability and kbg syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 23 is SETD5 (SET Domain Containing 5). Affiliated tissues include thalamus and heart, and related phenotypes are intellectual disability and delayed speech and language development

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SETD5 on chromosome 3p25.3.

More information from OMIM: 615761 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 23

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rare genetic intellectual disability 9.7 SETD5 ANKRD11
2 kbg syndrome 9.7 SETD5 ANKRD11
3 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.7 SETD5 ANKRD11
4 cornelia de lange syndrome 9.7 SETD5 ANKRD11
5 autosomal dominant non-syndromic intellectual disability 9.7 SETD5 ANKRD11
6 alacrima, achalasia, and mental retardation syndrome 9.6 SETD5 ANKRD11
7 autism 9.6 SETD5 ANKRD11
8 autism spectrum disorder 9.5 SETD5 ANKRD11

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 23:



Diseases related to Mental Retardation, Autosomal Dominant 23

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 23

Human phenotypes related to Mental Retardation, Autosomal Dominant 23:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 delayed speech and language development 58 31 very rare (1%) Very frequent (99-80%) HP:0000750
3 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
4 wide nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0000431
5 anteverted nares 58 31 very rare (1%) Frequent (79-30%) HP:0000463
6 low-set ears 58 31 very rare (1%) Frequent (79-30%) HP:0000369
7 downturned corners of mouth 58 31 very rare (1%) Frequent (79-30%) HP:0002714
8 long philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000343
9 autistic behavior 58 31 very rare (1%) Frequent (79-30%) HP:0000729
10 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
11 hypotonia 31 frequent (33%) HP:0001252
12 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
15 depressed nasal bridge 58 31 very rare (1%) Occasional (29-5%) HP:0005280
16 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
17 brachycephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000248
18 strabismus 58 31 very rare (1%) Occasional (29-5%) HP:0000486
19 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
20 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
21 micrognathia 58 31 very rare (1%) Occasional (29-5%) HP:0000347
22 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
23 myopia 58 31 very rare (1%) Occasional (29-5%) HP:0000545
24 downslanted palpebral fissures 58 31 very rare (1%) Occasional (29-5%) HP:0000494
25 upslanted palpebral fissure 58 31 very rare (1%) Occasional (29-5%) HP:0000582
26 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
27 obsessive-compulsive behavior 58 31 very rare (1%) Occasional (29-5%) HP:0000722
28 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
29 thin upper lip vermilion 58 31 very rare (1%) Occasional (29-5%) HP:0000219
30 deep philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002002
31 low anterior hairline 58 31 very rare (1%) Occasional (29-5%) HP:0000294
32 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
33 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
34 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
35 lower limb asymmetry 58 31 very rare (1%) Occasional (29-5%) HP:0100559
36 abnormal oral frenulum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000190
37 postaxial foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001830
38 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
39 feeding difficulties 58 31 very rare (1%) Occasional (29-5%) HP:0011968
40 hemianopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012377
41 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
42 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
43 broad distal phalanx of finger 58 31 very rare (1%) Occasional (29-5%) HP:0009836
44 abnormality of thalamus morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010663
45 chronic constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012450
46 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
47 postaxial polydactyly 58 31 very rare (1%) Occasional (29-5%) HP:0100259
48 ptosis 31 very rare (1%) HP:0000508
49 hyperlordosis 31 very rare (1%) HP:0003307
50 global developmental delay 31 very rare (1%) HP:0001263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
lordosis

Head And Neck Head:
brachycephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
obsessive-compulsive behavior
autistic features
hand-flapping

Head And Neck Mouth:
drooling
thin upper lip
downturned corners of the mouth

Head And Neck Teeth:
crowded teeth

Abdomen Gastrointestinal:
chewing abnormalities

Head And Neck Nose:
depressed nasal bridge
anteverted nares
tubular nose
prominent, high nasal root

Head And Neck Eyes:
strabismus
myopia
synophrys
astigmatism
upslanting palpebral fissures
more
Head And Neck Face:
micrognathia
long, smooth philtrum

Genitourinary External Genitalia Male:
hypospadias

Neurologic Central Nervous System:
delayed psychomotor development
delayed speech
intellectual disability, moderate to severe

Skin Nails Hair Hair:
low hairline

Clinical features from OMIM®:

615761 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 23:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ANKRD11 SETD5

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 23

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 23

Genetic Tests for Mental Retardation, Autosomal Dominant 23

Genetic tests related to Mental Retardation, Autosomal Dominant 23:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 23 29 SETD5

Anatomical Context for Mental Retardation, Autosomal Dominant 23

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 23:

40
Thalamus, Heart

Publications for Mental Retardation, Autosomal Dominant 23

Articles related to Mental Retardation, Autosomal Dominant 23:

# Title Authors PMID Year
1
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. 57 6
25138099 2015
2
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. 6 57
24680889 2014
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6 57
23020937 2012
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
5
First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember. 61
33218422 2020
6
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome. 61
32793091 2020

Variations for Mental Retardation, Autosomal Dominant 23

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 23:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SETD5 NM_001080517.3(SETD5):c.960del (p.Lys320fs) Deletion Pathogenic 818221 GRCh37: 3:9483421-9483421
GRCh38: 3:9441737-9441737
2 SETD5 NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs) Deletion Pathogenic 818222 GRCh37: 3:9488782-9488783
GRCh38: 3:9447098-9447099
3 SETD5 NM_001080517.3(SETD5):c.1783-1G>C SNV Pathogenic 488444 rs1553625691 GRCh37: 3:9489369-9489369
GRCh38: 3:9447685-9447685
4 SETD5 NM_001080517.3(SETD5):c.2388_2389del (p.Ser797fs) Deletion Pathogenic 619990 rs1559451052 GRCh37: 3:9495464-9495465
GRCh38: 3:9453780-9453781
5 SETD5 NM_001080517.3(SETD5):c.1195A>T (p.Lys399Ter) SNV Pathogenic 127102 rs587777325 GRCh37: 3:9486739-9486739
GRCh38: 3:9445055-9445055
6 SETD5 NM_001080517.3(SETD5):c.3771dup (p.Ser1258fs) Duplication Pathogenic 127105 rs587777328 GRCh37: 3:9517216-9517217
GRCh38: 3:9475532-9475533
7 SETD5 NM_001080517.3(SETD5):c.1125dup (p.Val376fs) Duplication Pathogenic 431105 rs1135401767 GRCh37: 3:9485038-9485039
GRCh38: 3:9443354-9443355
8 SETD5 NM_001080517.3(SETD5):c.2508dup (p.Arg837fs) Duplication Pathogenic 438303 rs1553635477 GRCh37: 3:9506139-9506140
GRCh38: 3:9464455-9464456
9 SETD5 NM_001080517.3(SETD5):c.1893_1894insA (p.Arg632fs) Insertion Pathogenic 438302 rs1553625836 GRCh37: 3:9489480-9489481
GRCh38: 3:9447796-9447797
10 SETD5 NM_001080517.3(SETD5):c.547_567+60del Deletion Pathogenic 219199 rs1553618323 GRCh37: 3:9477566-9477646
GRCh38: 3:9435882-9435962
11 SETD5 NM_001080517.3(SETD5):c.2386dup (p.Thr796fs) Duplication Pathogenic 975161 GRCh37: 3:9495459-9495460
GRCh38: 3:9453775-9453776
12 SETD5 NM_001080517.3(SETD5):c.345dup (p.Lys116fs) Duplication Pathogenic 975772 GRCh37: 3:9476518-9476519
GRCh38: 3:9434834-9434835
13 SETD5 NM_001080517.3(SETD5):c.1744_1745del (p.Ser582fs) Microsatellite Pathogenic 975773 GRCh37: 3:9488951-9488952
GRCh38: 3:9447267-9447268
14 SETD5 NM_001080517.3(SETD5):c.1441-1G>A SNV Pathogenic 917529 GRCh37: 3:9487340-9487340
GRCh38: 3:9445656-9445656
15 SETD5 NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter) SNV Pathogenic 127104 GRCh37: 3:9512419-9512419
GRCh38: 3:9470735-9470735
16 SETD5 NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) SNV Pathogenic 975162 GRCh37: 3:9514938-9514938
GRCh38: 3:9473254-9473254
17 SETD5 NM_001080517.3(SETD5):c.3856del (p.Ser1286fs) Deletion Pathogenic 127106 rs587777329 GRCh37: 3:9517302-9517302
GRCh38: 3:9475618-9475618
18 SETD5 NM_001080517.3(SETD5):c.2175_2176CA[1] (p.Thr726fs) Microsatellite Pathogenic 127103 rs587777326 GRCh37: 3:9490143-9490144
GRCh38: 3:9448459-9448460
19 SETD5 NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter) SNV Pathogenic 219198 rs864321657 GRCh37: 3:9490270-9490270
GRCh38: 3:9448586-9448586
20 SETD5 NM_001080517.3(SETD5):c.1566del (p.Phe522fs) Deletion Pathogenic 807683 rs1575466399 GRCh37: 3:9488772-9488772
GRCh38: 3:9447088-9447088
21 SETD5 NM_001080517.3(SETD5):c.2154del (p.Val719fs) Deletion Pathogenic 807684 rs1575475764 GRCh37: 3:9490122-9490122
GRCh38: 3:9448438-9448438
22 SETD5 NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs) Insertion Pathogenic 998029 GRCh37: 3:9488911-9488912
GRCh38: 3:9447227-9447228
23 SETD5 NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter) SNV Pathogenic 1031046 GRCh37: 3:9487359-9487359
GRCh38: 3:9445675-9445675
24 SETD5 NM_001080517.3(SETD5):c.1390C>T (p.Gln464Ter) SNV Pathogenic 1032602 GRCh37: 3:9486934-9486934
GRCh38: 3:9445250-9445250
25 SETD5 NM_001080517.3(SETD5):c.1495del (p.Asp499fs) Deletion Pathogenic 1032603 GRCh37: 3:9487395-9487395
GRCh38: 3:9445711-9445711
26 SETD5 NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter) SNV Likely pathogenic 620169 rs1421204500 GRCh37: 3:9483388-9483388
GRCh38: 3:9441704-9441704
27 SETD5 NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) Duplication Likely pathogenic 450756 rs1553641476 GRCh37: 3:9517294-9517295
GRCh38: 3:9475610-9475611
28 SETD5 NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu) SNV Likely pathogenic 666294 rs1575430613 GRCh37: 3:9483840-9483840
GRCh38: 3:9442156-9442156
29 SETD5 NM_001080517.3(SETD5):c.1441-2A>G SNV Likely pathogenic 976477 GRCh37: 3:9487339-9487339
GRCh38: 3:9445655-9445655
30 SETD5 NM_001080517.3(SETD5):c.3631+1G>T SNV Likely pathogenic 436694 rs1553640838 GRCh37: 3:9516267-9516267
GRCh38: 3:9474583-9474583
31 SETD5 NM_001080517.3(SETD5):c.1030G>A (p.Gly344Ser) SNV Likely pathogenic 975774 GRCh37: 3:9483882-9483882
GRCh38: 3:9442198-9442198
32 SETD5 NM_001080517.3(SETD5):c.1707_1708CT[1] (p.Ser570fs) Microsatellite Likely pathogenic 666306 rs1575467723 GRCh37: 3:9488916-9488917
GRCh38: 3:9447232-9447233
33 SETD5 NM_001080517.3(SETD5):c.1452dup (p.Pro485fs) Duplication Likely pathogenic 800867 rs1575453353 GRCh37: 3:9487351-9487352
GRCh38: 3:9445667-9445668
34 SETD5 NM_001080517.3(SETD5):c.3631G>A (p.Asp1211Asn) SNV Likely pathogenic 620047 GRCh37: 3:9516266-9516266
GRCh38: 3:9474582-9474582
35 SETD5 NM_001080517.3(SETD5):c.670C>T (p.Gln224Ter) SNV Likely pathogenic 666304 rs1575421295 GRCh37: 3:9482242-9482242
GRCh38: 3:9440558-9440558
36 SETD5 NM_001080517.3(SETD5):c.897del (p.Ile299fs) Deletion Likely pathogenic 812163 rs1575427610 GRCh37: 3:9483363-9483363
GRCh38: 3:9441679-9441679
37 SETD5 NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser) SNV Likely pathogenic 973265 GRCh37: 3:9483407-9483407
GRCh38: 3:9441723-9441723
38 SETD5 NM_001080517.3(SETD5):c.1931C>G (p.Ser644Ter) SNV Likely pathogenic 520418 rs1553625881 GRCh37: 3:9489518-9489518
GRCh38: 3:9447834-9447834
39 SETD5 NM_001080517.3(SETD5):c.538C>T (p.Arg180Cys) SNV Uncertain significance 393550 rs753185558 GRCh37: 3:9477561-9477561
GRCh38: 3:9435877-9435877
40 SETD5 NM_001080517.3(SETD5):c.73C>G (p.Pro25Ala) SNV Uncertain significance 930414 GRCh37: 3:9475530-9475530
GRCh38: 3:9433846-9433846
41 SETD5 NM_001080517.3(SETD5):c.1031G>A (p.Gly344Asp) SNV Uncertain significance 992376 GRCh37: 3:9483883-9483883
GRCh38: 3:9442199-9442199
42 SETD5 NM_001080517.3(SETD5):c.2519T>A (p.Met840Lys) SNV Uncertain significance 1028533 GRCh37: 3:9506151-9506151
GRCh38: 3:9464467-9464467
43 SETD5 NM_001080517.3(SETD5):c.2701T>A (p.Cys901Ser) SNV Uncertain significance 1028534 GRCh37: 3:9506333-9506333
GRCh38: 3:9464649-9464649
44 SETD5 NM_001080517.3(SETD5):c.346A>C (p.Lys116Gln) SNV Uncertain significance 1028535 GRCh37: 3:9476524-9476524
GRCh38: 3:9434840-9434840
45 SETD5 NM_001080517.3(SETD5):c.4159C>G (p.Arg1387Gly) SNV Uncertain significance 1028536 GRCh37: 3:9517605-9517605
GRCh38: 3:9475921-9475921
46 SETD5 NM_001080517.3(SETD5):c.847C>T (p.Arg283Trp) SNV Uncertain significance 1028537 GRCh37: 3:9483313-9483313
GRCh38: 3:9441629-9441629
47 SETD5 NM_001080517.3(SETD5):c.2200A>G (p.Thr734Ala) SNV Uncertain significance 996149 rs918034864 GRCh37: 3:9490168-9490168
GRCh38: 3:9448484-9448484
48 SETD5 NM_001080517.3(SETD5):c.2855C>T (p.Pro952Leu) SNV Uncertain significance 996900 GRCh37: 3:9512273-9512273
GRCh38: 3:9470589-9470589
49 SETD5 NM_001080517.3(SETD5):c.3341G>T (p.Gly1114Val) SNV Uncertain significance 996998 GRCh37: 3:9515065-9515065
GRCh38: 3:9473381-9473381
50 SETD5 NM_001080517.3(SETD5):c.2346+3A>G SNV Uncertain significance 1031047 GRCh37: 3:9490317-9490317
GRCh38: 3:9448633-9448633

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 23:

72
# Symbol AA change Variation ID SNP ID
1 SETD5 p.Ser175Gly VAR_078954

Expression for Mental Retardation, Autosomal Dominant 23

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 23.

Pathways for Mental Retardation, Autosomal Dominant 23

GO Terms for Mental Retardation, Autosomal Dominant 23

Sources for Mental Retardation, Autosomal Dominant 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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