MRD29
MCID: MNT222
MIFTS: 36

Mental Retardation, Autosomal Dominant 29 (MRD29)

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 29

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 29:

Name: Mental Retardation, Autosomal Dominant 29 57 72 29 6 70
Mrd29 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 29 12 15
Mental Retardation, Autosomal Dominant, Type 29 39
Autosomal Dominant Mental Retardation 29 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable dysmorphic features


HPO:

31
mental retardation, autosomal dominant 29:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 29

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 29: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 29, also known as mrd29, is related to setbp1 disorder and myelodysplastic/myeloproliferative neoplasm. An important gene associated with Mental Retardation, Autosomal Dominant 29 is SETBP1 (SET Binding Protein 1). Affiliated tissues include eye and myeloid, and related phenotypes are seizure and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3.

More information from OMIM: 616078 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 29

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 29 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 setbp1 disorder 11.4
2 myelodysplastic/myeloproliferative neoplasm 9.9 SETBP1 ABL1
3 chronic neutrophilic leukemia 9.9 SETBP1 ABL1
4 mixed phenotype acute leukemia 9.9 SETBP1 ABL1
5 atypical chronic myeloid leukemia 9.9 SETBP1 ABL1
6 chronic leukemia 9.8 SETBP1 ABL1
7 b-lymphoblastic leukemia/lymphoma 9.7 PBX1 ABL1
8 b-lymphoblastic leukemia/lymphoma with hypodiploidy 9.7 PBX1 ABL1
9 b-cell adult acute lymphocytic leukemia 9.7 PBX1 ABL1
10 adult acute lymphocytic leukemia 9.7 PBX1 ABL1
11 b-lymphoblastic leukemia/lymphoma with iamp21 9.7 PBX1 ABL1
12 leukemia, acute lymphoblastic 3 9.7 PBX1 ABL1
13 childhood leukemia 9.6 PBX1 ABL1
14 leukemia, acute lymphoblastic 9.4 VPREB1 PBX1 ABL1
15 childhood acute lymphocytic leukemia 9.4 PBX1 ABL1
16 leukemia, acute myeloid 9.3 SETBP1 PBX1 ABL1

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 29:



Diseases related to Mental Retardation, Autosomal Dominant 29

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 29

Human phenotypes related to Mental Retardation, Autosomal Dominant 29:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 ptosis 31 HP:0000508
4 high palate 31 HP:0000218
5 narrow palate 31 HP:0000189
6 hypertelorism 31 HP:0000316
7 brachycephaly 31 HP:0000248
8 absent speech 31 HP:0001344
9 attention deficit hyperactivity disorder 31 HP:0007018
10 low-set ears 31 HP:0000369
11 motor delay 31 HP:0001270
12 dental crowding 31 HP:0000678
13 downslanted palpebral fissures 31 HP:0000494
14 thin upper lip vermilion 31 HP:0000219
15 long face 31 HP:0000276
16 pointed chin 31 HP:0000307
17 synophrys 31 HP:0000664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
synophrys
downslanting palpebral fissures

Head And Neck Head:
brachycephaly
dolicocephaly

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder

Head And Neck Face:
long face
pointed chin
dysmorphic facies, variable

Head And Neck Nose:
full nasal tip

Head And Neck Mouth:
high palate
narrow palate
thin upper lip

Neurologic Central Nervous System:
absent speech
delayed motor development
seizures (uncommon)
delayed speech
mental retardation, mild to moderate (iq 30-76)

Head And Neck Ears:
low-set ears

Head And Neck Teeth:
crowded teeth

Clinical features from OMIM®:

616078 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.84 KCNN1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.84 KCNN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.84 KCNN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.84 SETBP1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.84 ABL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.84 ABL1 SETBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.84 SETBP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.84 SETBP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.84 SETBP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.84 SETBP1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.84 KCNN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.84 ABL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.84 KCNN1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.84 ABL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.84 VPREB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.84 ABL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.84 ABL1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.84 ABL1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.84 KCNN1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.84 KCNN1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.84 SETBP1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.84 SETBP1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.84 KCNN1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 ABL1

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 29:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 ABL1 DPCD KCNN1 PBX1 SETBP1

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 29

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 29

Genetic Tests for Mental Retardation, Autosomal Dominant 29

Genetic tests related to Mental Retardation, Autosomal Dominant 29:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 29 29 SETBP1

Anatomical Context for Mental Retardation, Autosomal Dominant 29

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 29:

40
Eye, Myeloid

Publications for Mental Retardation, Autosomal Dominant 29

Articles related to Mental Retardation, Autosomal Dominant 29:

# Title Authors PMID Year
1
Refining analyses of copy number variation identifies specific genes associated with developmental delay. 6 57
25217958 2014
2
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 6
28346496 2017
3
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 6
25663181 2015
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
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 6
25852444 2015
6
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 57
23020937 2012
7
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. 57
22333924 2012
8
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 57
21037274 2011
9
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 6
20436468 2010
10
The establishment and evaluation of a new model for the prediction of Children B-ALL based on TARGET: A SQUIRE-compliant study. 61
32384487 2020

Variations for Mental Retardation, Autosomal Dominant 29

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 29:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SETBP1 NM_015559.3(SETBP1):c.2464del (p.Ile822fs) Deletion Pathogenic 157555 rs606231269 GRCh37: 18:42531769-42531769
GRCh38: 18:44951803-44951803
2 SETBP1 NM_015559.3(SETBP1):c.1596G>A (p.Trp532Ter) SNV Pathogenic 157556 rs672601342 GRCh37: 18:42530901-42530901
GRCh38: 18:44950936-44950936
3 SETBP1 NM_015559.3(SETBP1):c.427del (p.Arg143fs) Deletion Pathogenic 157558 rs606231271 GRCh37: 18:42281738-42281738
GRCh38: 18:44701771-44701771
4 SETBP1 NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter) Insertion Pathogenic 375633 rs1057519594 GRCh37: 18:42531321-42531322
GRCh38: 18:44951356-44951357
5 SETBP1 NM_015559.3(SETBP1):c.1190C>A (p.Ser397Ter) SNV Pathogenic 975771 GRCh37: 18:42530495-42530495
GRCh38: 18:44950530-44950530
6 SETBP1 NM_015559.3(SETBP1):c.1082_1083dup (p.Phe362fs) Duplication Pathogenic 976037 GRCh37: 18:42530386-42530387
GRCh38: 18:44950421-44950422
7 SETBP1 NM_015559.3(SETBP1):c.2621A>G (p.Asp874Gly) SNV Pathogenic 984820 GRCh37: 18:42531926-42531926
GRCh38: 18:44951961-44951961
8 SETBP1 NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer) Deletion Pathogenic 520830 rs1555706391 GRCh37: 18:42530710-42530710
GRCh38: 18:44950745-44950745
9 SETBP1 NM_015559.3(SETBP1):c.3198C>A (p.Tyr1066Ter) SNV Pathogenic 931693 GRCh37: 18:42532503-42532503
GRCh38: 18:44952538-44952538
10 SETBP1 NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter) SNV Pathogenic 807682 rs1599368323 GRCh37: 18:42531730-42531730
GRCh38: 18:44951765-44951765
11 SETBP1 NM_015559.3(SETBP1):c.1630C>T (p.Arg544Ter) SNV Pathogenic 620563 rs1568234874 GRCh37: 18:42530935-42530935
GRCh38: 18:44950970-44950970
12 SETBP1 NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter) SNV Pathogenic 489124 rs1555705966 GRCh37: 18:42530126-42530126
GRCh38: 18:44950161-44950161
13 SETBP1 NM_015559.3(SETBP1):c.1568del (p.His523fs) Deletion Pathogenic 280223 rs886041469 GRCh37: 18:42530873-42530873
GRCh38: 18:44950908-44950908
14 SETBP1 NM_015559.3(SETBP1):c.487-1G>A SNV Pathogenic 429524 rs147805077 GRCh37: 18:42449194-42449194
GRCh38: 18:44869229-44869229
15 SETBP1 NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) SNV Pathogenic 1032 rs267607042 GRCh37: 18:42531907-42531907
GRCh38: 18:44951942-44951942
16 SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) SNV Pathogenic 1031 rs267607038 GRCh37: 18:42531917-42531917
GRCh38: 18:44951952-44951952
17 SETBP1 NM_015559.3(SETBP1):c.1821del (p.Ser608fs) Deletion Pathogenic 212152 rs797045952 GRCh37: 18:42531125-42531125
GRCh38: 18:44951160-44951160
18 SETBP1 NM_015559.3(SETBP1):c.3032C>G (p.Ser1011Ter) SNV Pathogenic 157557 rs606231270 GRCh37: 18:42532337-42532337
GRCh38: 18:44952372-44952372
19 SETBP1 NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) SNV Pathogenic 157559 rs606231272 GRCh37: 18:42531178-42531178
GRCh38: 18:44951213-44951213
20 SETBP1 NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) SNV Pathogenic 157560 rs606231273 GRCh37: 18:42531181-42531181
GRCh38: 18:44951216-44951216
21 SETBP1 NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) SNV Pathogenic 157559 rs606231272 GRCh37: 18:42531178-42531178
GRCh38: 18:44951213-44951213
22 SETBP1 NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) SNV Pathogenic 157560 rs606231273 GRCh37: 18:42531181-42531181
GRCh38: 18:44951216-44951216
23 SETBP1 NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs) Deletion Likely pathogenic 988755 GRCh37: 18:42530718-42530721
GRCh38: 18:44950753-44950756
24 SETBP1 NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe) SNV Likely pathogenic 984834 GRCh37: 18:42531866-42531866
GRCh38: 18:44951901-44951901
25 SETBP1 NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter) SNV Likely pathogenic 620362 rs1568097623 GRCh37: 18:42281576-42281576
GRCh38: 18:44701611-44701611
26 SETBP1 NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) SNV Likely pathogenic 620410 rs1568235086 GRCh37: 18:42531070-42531070
GRCh38: 18:44951105-44951105
27 SETBP1 NM_015559.3(SETBP1):c.4790_*9del (p.Ter1597TrpextTer?) Deletion Likely pathogenic 984901 GRCh37: 18:42643660-42643670
GRCh38: 18:45063695-45063705
28 SETBP1 NM_015559.3(SETBP1):c.1677_1686dup (p.Pro563fs) Duplication Likely pathogenic 982630 GRCh37: 18:42530981-42530982
GRCh38: 18:44951016-44951017
29 SETBP1 NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) SNV Likely pathogenic 521296 rs1178702025 GRCh37: 18:42531877-42531877
GRCh38: 18:44951912-44951912
30 SETBP1 NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys) SNV Uncertain significance 638458 rs767260608 GRCh37: 18:42532360-42532360
GRCh38: 18:44952395-44952395
31 SETBP1 NM_015559.3(SETBP1):c.3341G>C (p.Gly1114Ala) SNV Uncertain significance 930461 GRCh37: 18:42532646-42532646
GRCh38: 18:44952681-44952681
32 SETBP1 NM_015559.3(SETBP1):c.478A>G (p.Lys160Glu) SNV Uncertain significance 931273 GRCh37: 18:42281789-42281789
GRCh38: 18:44701824-44701824
33 SETBP1 NM_015559.3(SETBP1):c.2699A>G (p.Asp900Gly) SNV Uncertain significance 984821 GRCh37: 18:42532004-42532004
GRCh38: 18:44952039-44952039
34 SETBP1 NM_015559.3(SETBP1):c.3436C>T (p.Arg1146Trp) SNV Uncertain significance 984822 GRCh37: 18:42532741-42532741
GRCh38: 18:44952776-44952776
35 SETBP1 NM_015559.3(SETBP1):c.2870T>C (p.Leu957Pro) SNV Uncertain significance 984823 GRCh37: 18:42532175-42532175
GRCh38: 18:44952210-44952210
36 SETBP1 NM_015559.3(SETBP1):c.3499C>A (p.His1167Asn) SNV Uncertain significance 984833 GRCh37: 18:42532804-42532804
GRCh38: 18:44952839-44952839
37 SETBP1 NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met) SNV Uncertain significance 523514 rs200881888 GRCh37: 18:42618609-42618609
GRCh38: 18:45038644-45038644
38 SETBP1 NM_015559.3(SETBP1):c.3593C>T (p.Pro1198Leu) SNV Uncertain significance 714221 rs200960707 GRCh37: 18:42532898-42532898
GRCh38: 18:44952933-44952933
39 SETBP1 NM_015559.3(SETBP1):c.1243A>T (p.Asn415Tyr) SNV Uncertain significance 1030514 GRCh37: 18:42530548-42530548
GRCh38: 18:44950583-44950583
40 SETBP1 NM_015559.3(SETBP1):c.3079G>C (p.Asp1027His) SNV Uncertain significance 1030516 GRCh37: 18:42532384-42532384
GRCh38: 18:44952419-44952419
41 SETBP1 NM_015559.3(SETBP1):c.4768A>T (p.Ser1590Cys) SNV Uncertain significance 1030517 GRCh37: 18:42643640-42643640
GRCh38: 18:45063675-45063675
42 SETBP1 NM_015559.3(SETBP1):c.1141T>G (p.Ser381Ala) SNV Uncertain significance 1033368 GRCh37: 18:42530446-42530446
GRCh38: 18:44950481-44950481
43 SETBP1 NM_015559.3(SETBP1):c.1910C>A (p.Pro637Gln) SNV Uncertain significance 1033369 GRCh37: 18:42531215-42531215
GRCh38: 18:44951250-44951250
44 SETBP1 NM_015559.3(SETBP1):c.1990A>G (p.Lys664Glu) SNV Uncertain significance 1033370 GRCh37: 18:42531295-42531295
GRCh38: 18:44951330-44951330
45 SETBP1 NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) SNV Uncertain significance 548526 rs761385178 GRCh37: 18:42529970-42529970
GRCh38: 18:44950005-44950005

Expression for Mental Retardation, Autosomal Dominant 29

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 29.

Pathways for Mental Retardation, Autosomal Dominant 29

GO Terms for Mental Retardation, Autosomal Dominant 29

Biological processes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thymus development GO:0048538 8.96 PBX1 ABL1
2 spleen development GO:0048536 8.62 PBX1 ABL1

Sources for Mental Retardation, Autosomal Dominant 29

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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