Down Syndrome malady

MedlinePlus: Down syndrome is set of mental and physical symptoms that result from having an extra copy of chromosome 21. even though people with down syndrome may have some physical and mental features in common, symptoms of down syndrome can range from mild to severe. usually, mental development and physical development are slower in people with down syndrome than in those without it. people with the syndrome may also have other health problems. they may be born with heart disease. they may have dementia. they may have hearing problems and problems with the intestines, eyes, thyroid and skeleton. the chance of having a baby with down syndrome increases as a woman gets older. down syndrome cannot be cured. however, many people with down syndrome live productive lives well into adulthood. nih: national institute of child health and human development²³

MalaCards: Down Syndrome, also known as trisomy 21, is related to neuronitis and carcinoma. An important gene associated with Down Syndrome is RCAN1 (regulator of calcineurin 1), and among its related pathways are Metabolic pathways and Neuroscience. The compounds calcium and cysteine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and thymus, and related mouse phenotypes are mortality/aging and growth/size.

CDC: Click here to view a larger image²

Genetics Home Reference: Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.¹⁷

Wikipedia: Down syndrome (DS) or Down\'s syndrome, also known as trisomy 21, is a chromosomal condition caused by...⁴⁴ more...

OMIM: 190685

Aliases & Descriptions:

down syndrome 6 7 44 17 8 33 32 23 43 trisomy 21 44 17 47,xy,+21 44 17 47,xx,+21 44 17 complete trisomy 21 syndrome (disorder) 6 down's syndrome nos (disorder) 6 down's syndrome - trisomy 21 6 trisomy 21 syndrome 6

down's syndrome nos 6 down's syndrome 6 downs syndrome 6 g trisomy 6 trisomy g 17 trisomy 43

Diseases related to down syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 1147)

id	Related Disease	Score	Top Affiliating Genes
1	neuronitis	51.5	PICALM, NCAM1, NCAM2, NCK2, NCL, REG1A
2	carcinoma	47.0	RFC1, NCAM1, NCL, REG1A, REST, RET
3	leukemia	44.0	PICALM, RFC1, NCAM1, NCL, CNR1, CNR2
4	down syndrome critical region	42.2	PIGP, KISS1, KISS1R, RCAN1, RCAN2, RCAN3
5	prostatitis	40.4	RFC1, NCAM1, NCAM2, NCL, RET, CNR1
6	pancreatitis	37.8	NCAM1, NCL, REG1A, REST, RET, CNN1
7	alzheimer's disease	37.7	CLU, APOE, APP, MAPT, IDE, TFCP2
8	cerebritis	36.4	NCAM1, NCK2, REG1A, REST, CNP, CNR1
9	schizophrenia	36.2	WDR1, NCAM1, RET, CNP, CNR1, CNR2
10	dementia	35.6	NCAM1, SERPINC1, SERPINE1, SERPINA3, VIP, VEGFA
11	thyroiditis	35.2	PICALM, RFC1, NCAM1, RET, CNR2, KISS1
12	myeloproliferative disorder	35.1	KITLG, MPL, MPO, JAK2, MLL, FLT3
13	neurodegenerative disease	35.0	NCAM1, CNR1, SERPINA3, RAC1, CLU, PARP1
14	pick's disease	34.3	CNP, CLU, BDNF, CHAT, APOE, APP
15	megakaryoblastic leukemia	33.9	PICALM, KITLG, BMP6, ZFPM1, BACH1, MPL
16	acute megakaryoblastic leukemia	33.9	MPO, CD36, MLL, CBS, RHOA, THPO
17	neural tube defect	33.7	MTRR, MTHFR, MTR, CGA, CGB, CGB5
18	bipolar disorder	32.6	NCAM1, CNR1, CNR2, PCNT, VIP, NAPG
19	myeloid leukemia	32.4	PICALM, NCAM1, NCL, KITLG, PCNT, VEGFA
20	acute lymphoblastic leukemia	32.3	PICALM, KITLG, SERPINC1, LEPR, MTHFR, MPL
21	cholesterol	32.1	REG1A, CNP, CNR1, CNR2, KITLG, SERPINC1
22	megakaryocytic leukemia	32.1	NCAM1, KITLG, BST2, MPO, JAK2, CD36
23	neurodegeneration	32.0	NCL, CNR1, CNR2, RCAN1, SERPINA3, VIP
24	lateral sclerosis	31.7	CNR1, CNR2, SERPINE1, VEGFA, VDAC2, RAB5A
25	amyotrophic lateral sclerosis	31.6	CNR1, CNR2, SERPINE1, VEGFA, VDAC2, RAB5A
26	ovarian cancer	31.4	NCAM1, REST, KISS1, KITLG, KISS1R, RCAN1
27	dysgerminoma	31.4	KITLG, CGA, CGB, CGB5, ITGAL, INHA
28	hypertension	31.0	RFC1, NCAM1, RET, CNP, CNR1, CNR2
29	adrenal hyperplasia	30.9	LEP, CGA, CGB, CGB5, MRAP, CD36
30	twinning	30.7	NCAM1, SERPINC1, SERPINE1, VEGFA, PAPPA, BDNF
31	spina bifida	30.5	RFC1, PCMT1, LEPR, MTRR, MTHFR, MTR
32	cryptorchidism	30.5	PARP1, LEP, CGA, CGB5, CD8A, AMH
33	homocysteine	30.3	RFC1, PCMT1, SERPINC1, SERPINE1, SERPINA3, VEGFA
34	hepatitis	30.3	XDH, GSR, IFNA1, ALB, GLUD1, TXN
35	chronic lymphocytic leukemia	30.2	BAX, JAK2, CD40LG, CD55, ITGAL, ITGB2
36	alcoholism	30.2	CNR1, LBR, ARSA, GSR, FAAH, MAPT
37	hirschsprung's disease	30.1	NCAM1, RET, VIP, KCNN3, NTF3, NTRK1
38	hypothyroidism	30.0	RET, CGA, IL1A, IFNA1, AIRE, TRH
39	lymphocytic leukemia	29.9	NCAM1, NCL, KITLG, RCAN1, RCAN3, SERPINC1
40	choriocarcinoma	29.9	KISS1, KISS1R, PAPPA, BDNF, LEP, LEPR
41	infertility	29.8	KISS1, KITLG, KISS1R, SERPINE1, VEGFA, BMP6
42	obesity	29.8	SH3BGR, SH3BGRL, NCAM2, CNR1, CNR2, KISS1
43	pancreatic cancer	29.5	RET, VIP, VEGFA, RAC1, INHA, CASP3
44	turner syndrome	29.4	PAPPA, XDH, CGA, CGB, IGF1, GH1
45	male infertility	29.4	KITLG, MTRR, MTHFR, MTR, XDH, CGA
46	keratoconus	29.3	S100A1, MMP2, MMP8, MMP9, FN1, GSN
47	klinefelter's syndrome	29.3	KISS1, KISS1R, SERPINE1, LEP, MTHFR, CGA
48	mayer-rokitansky-kuster-hauser syndrome	29.3	LEPR, MTHFR, CD55, FMR1, ARSA, INS
49	fibrosis	29.2	REG1A, CNR1, CNR2, KITLG, SERPINC1, SERPINE1
50	lymphoblastic leukemia	28.9	PICALM, RFC1, NCAM1, KITLG, SERPINC1, SERPINE1

Clinical features from OMIM: 190685

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to down syndrome:

²²

MGI Mouse Phenotypes related to down syndrome:

²⁵ (show all 29)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	22.2	PICALM, WDR1, NCAM1, NCK2, REST, RET
2	growth/size phenotype	MP:0005378	20.2	PICALM, WDR1, NCK2, REST, RET, CNP
3	homeostasis/metabolism phenotype	MP:0005376	19.5	PICALM, WDR1, NCK2, REG1A, RET, CNN1
4	cellular phenotype	MP:0005384	17.5	PICALM, WDR1, NCAM1, NCK2, REST, RET
5	nervous system phenotype	MP:0003631	17.3	NCAM2, NCK2, REST, CNP, CNR1, KISS1
6	behavior/neurological phenotype	MP:0005386	15.6	NCAM1, NCK2, CNP, CNR1, KISS1R, RDX
7	integument phenotype	MP:0010771	14.7	WDR1, CNR1, CNR2, KISS1, KITLG, KISS1R
8	immune system phenotype	MP:0005387	14.5	PICALM, WDR1, CNN2, CNP, CNR2, KISS1R
9	hematopoietic system phenotype	MP:0005397	14.5	PICALM, WDR1, CNN2, KISS1R, RCAN1, RCAN2
10	embryogenesis phenotype	MP:0005380	14.4	PICALM, NCK2, REST, RET, PCNT, SERPINC1
11	no phenotypic analysis	MP:0003012	14.3	REST, RET, CNN2, CNR1, BST2, VEGFA
12	normal phenotype	MP:0002873	14.1	NCAM2, NCK2, RET, KISS1R, SEPT6, VIP
13	endocrine/exocrine gland phenotype	MP:0005379	13.8	REG1A, RET, CNP, KISS1, KISS1R, RCAN1
14	respiratory system phenotype	MP:0005388	13.6	RET, CNP, PCMT1, BDNF, KCNN3, KCNQ2
15	reproductive system phenotype	MP:0005389	13.5	REG1A, RET, CNP, KISS1, KISS1R, RCAN1
16	cardiovascular system phenotype	MP:0005385	13.3	RET, KITLG, RCAN1, RCAN2, SERPINC1, SEPT5
17	muscle phenotype	MP:0005369	13.0	RET, CNP, PCMT1, NACA, VEGFA, RAC1
18	skeleton phenotype	MP:0005390	12.6	WDR1, CNN1, CNP, CNR1, KITLG, RCAN2
19	renal/urinary system phenotype	MP:0005367	12.6	NCK2, RET, KISS1, KISS1R, GCNT2, CLU
20	craniofacial phenotype	MP:0005382	12.6	KITLG, NAPA, BDNF, CHRNB2, LBR, FST
21	digestive/alimentary phenotype	MP:0005381	12.2	RET, CNP, KISS1, KITLG, KISS1R, VEGFA
22	vision/eye phenotype	MP:0005391	12.2	NCAM1, REST, CNP, KITLG, SERPINC1, VEGFA
23	hearing/vestibular/ear phenotype	MP:0005377	11.9	WDR1, KITLG, RDX, NAPA, PARP1, BDNF
24	liver/biliary system phenotype	MP:0005370	11.7	PICALM, RDX, RCAN2, SERPINC1, VEGFA, ZFPM1
25	other phenotype	MP:0005395	11.2	CNR1, CLU, LEPR, BACE1, JAK2, CD40LG
26	limbs/digits/tail phenotype	MP:0005371	11.1	RET, CNN1, KITLG, RCAN2, PCNT, VEGFA
27	pigmentation phenotype	MP:0001186	10.4	KITLG, SERPINC1, RAC1, ITGB1, ITGB2, APOE
28	adipose tissue phenotype	MP:0005375	10.3	CNR1, RCAN2, SERPINE1, LEP, LEPR, UBB
29	tumorigenesis	MP:0002006	9.7	RET, KITLG, RCAN1, SERPINE1, LEP, LEPR

Articles related to down syndrome:

(show top 50)    (show all 902)

id	Title	Authors	Year	Affiliating Genes
1	Microdeletion of the Down syndrome critical region at 21q22. (20358607)	Fujita H.... Kosaki K.	2010	DYRK1A
2	Alzheimer's disease amyloid-beta links lens and brain pathology in Down syndrome. (20502642)	Moncaster J.A.... Goldstein L.E.	2010	APP
3	Systemic pathology in aged mouse models of Down's syndrome and Alzheimer's disease. (19041304)	Levine S.... Ginsberg S.D.	2009	APP
4	Plasma endothelin-1 and nitrate levels in Down's syndrome with complete atrioventricular septal defect-associated pulmonary hypertension: a comparison with non-Down's syndrome children. (18682983)	Sungur M.... Senocak F.	2009	EDN1
5	Reduced neuronal co-localisation of nardilysin and the putative alpha-secretases ADAM10 and ADAM17 in Alzheimer's disease and Down syndrome brains. (19234765)	Bernstein H.G.... Reiser G.	2009	ADAM10, ADAM17, NRD1
6	Rivastigmine for dementia in people with Down syndrom e. (19160344)	Mohan M.... Carpenter P.K.	2009	ACHE
7	The impact of apolipoprotein E on dementia in persons with Down's syndrome. (17250929)	Coppus A.M.... Van Duijn C.M.	2008	APOE
8	Plasma amino acids and neopterin in healthy persons with Down's syndrome. (17401539)	Coppus A.W.... Van Duijn C.M.	2007	CBS
9	JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. (17252020)	Kiyoi H.... Naoe T.	2007	JAK3
10	Transient myeloproliferative disorder in a neonate without Down syndrome (17913678)	Adam M.... Favier R.	2007	GATA1
11	Molecular insights into Down syndrome-associated leukemia. (17224656)	Vyas P.... Crispino J.D.	2007	GATA1
12	Analysis of JAK3, JAK2, and C-MPL mutations in transient myeloproliferative disorder and myeloid leukemia of Down syndrome blasts in children with Down syndrome. (17644747)	Norton A.... Vyas P.	2007	JAK2, JAK3, MPL
13	Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. (16596679)	Coppede F.... Migliore L.	2006	MTHFR, RFC1, SLC19A1
14	Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome. (15946822)	Rachidi M.... Delabar J.M.	2005	SIM2
15	Alzheimer disease and Down syndrome: factors in patho genesis. (15639317)	Lott I.T.... Head E.	2005	APOE
16	Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines. (12393509)	Ge Y.... Taub J.W.	2003	CBS, NFYA
17	Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. (12560215)	Mundschau G.... Crispino J.D.	2003	GATA1
18	Elevated second-trimester maternal serum inhibin A levels in Asian pregnancies with fetal down syndrome and other chromosomal abnormalities. (12576745)	Hsu J.J.... Hsieh T.T.	2003	INHA
19	Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. (12172547)	Wechsler J.... Crispino J.D.	2002	GATA1, ZFPM1
20	Maternal serum hyperglycosylated human chorionic gonadotrophin (HhCG) in the first trimester of pregnancies affected by Down syndrome, using a sialic acid-specific lectin immunoassay. (12210572)	Spencer K.... Abushoufa R.A.	2002	PAPPA
21	Human brain nascent polypeptide-associated complex alpha subunit is decreased in patients with Alzheimer' s disease and Down syndrome. (12109594)	Kim S.H.... Lubec G.	2002	NACA
22	C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. (12080391)	Stuppia L.... Palka G.	2002	MTHFR
23	Reduction of nucleoside diphosphate kinase B, Rab GDP-dissociation inhibitor beta and histidine triad nucleotide-binding protein in fetal Down syndrome brain. (11771757)	Weitzdoerfer R.... Lubec G.	2001	NME2, GNB5, HINT1
24	Combined measurement of fetal nuchal translucency, maternal serum free beta-hCG, and pregnancy-associated plasma protein A for first-trimester Down's syndrome screening. (11432311)	Tsai M.S.... Lee F.K.	2001	PAPPA, CGB
25	Expression profiles of proteins in fetal brain with Down syndrome. (11771754)	Cheon M.S.... Lubec G.	2001	VPS29, SEPT6, WDR1
26	Genetic dissection of region associated with behavioral abnormalities in mouse models for Down syndrome. (11044479)	Sago H.... Epstein C.J.	2000	APP
27	The development of a sialic acid specific lectin-immunoassay for the measurement of human chorionic gonadotrophin glycoforms in serum and its application in normal and Down's syndrome pregnancies. (10762294)	Abushoufa R.A.... Robertson W.R.	2000	CGA
28	Maternal serum activin A and follistatin levels in pregnancies with Down syndrome. (10416964)	Cuckle H.S.... Evans L.W.	1999	FST
29	Amniotic fluid levels of dimeric inhibins, pro-alpha C inhibin, activin A and follistatin in Down's syndrome. (10468934)	Wallace E.M.... Groome N.P.	1999	FST
30	Maternal serum screening for Down syndrome in a teaching hospital in Hong Kong. (11601289)	Law L.... Hjelm M.	1999	AFP, CGB
31	Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (10329007)	Guimera J.... Pritchard M.A.	1999	DYRK1A
32	Expression of chromosome 21-localized genes in acute myeloid leukemia: differences between Down syndrome and non-Down syndrome blast cells and relationship to in vitro sensitivity to cytosine arabinoside and daunorubicin. (10438727)	Taub J.W.... Ravindranath Y.	1999	CBS
33	Overexpression of s100beta in Down's syndrome: correlation with patient age and with beta-amyloid deposition. (10564528)	Royston M.C.... Mrak R.E.	1999	S100B
34	Screening of maternal serum for fetal Down's syndrome in the first trimester. (9521983)	Haddow J.E.... Johnson A.	1998	CGA
35	First-trimester urine free beta hCG, beta core, and t otal oestriol in pregnancies affected by Down's syndrome: implications for firs t-trimester screening with nuchal translucency and serum free beta hCG. (9203211)	Spencer K.... Nicolaides K.H.	1997	CGA, CGB7
36	The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome. (8661114)	Yamaki A.... Shimizu N.	1996	SIM2
37	Enhanced metabolism of 1-beta-D-arabinofuranosylcytos ine in Down syndrome cells: a contributing factor to the superior event free su rvival of Down syndrome children with acute myeloid leukemia. (8605357)	Taub J.W.... Ravindranath Y.	1996	CBS
38	Down syndrome screening in an Asian population using alpha-fetoprotein and free beta-hCG: a report of the Taiwan Down Syndrome Screening Group. (8649703)	Hsu J.J.... Hsieh F.J.	1996	AFP
39	A case-control study of apolipoprotein E genotypes in Alzheimer's disease associated with Down's syndrome. Dutch Study Group on Down's Syndrome and Ageing. (7654070)	van Gool W.A.... Van Duijn C.M.	1995	APOE
40	Serum PAPP-A and free beta-hCG are first-trimester screening markers for Down syndrome. (7533285)	Brambati B.... Grudzinskas J.G.	1994	CGA, PAPPA, CGB7
41	Repeat maternal serum testing in multiple marker Down's syndrome screening programmes. (7526366)	Cuckle H.... WALD N.	1994	CGA, AFP
42	Implementation of an antenatal serum screening programme for Down's syndrome in two districts (Brighton and Eastbourne). The Brighton and Eastbourne Down's Syndrome Screening Group. (8790485)	Piggott M.... Bennett J.	1994	AFP
43	Expanding multiple marker screening for Down's syndrome to include Edward's syndrome. (7506408)	Barkai G.... Cuckle H.	1993	CGA
44	Serum PAPP-A measurements in first-trimester screening for Down syndrome. (7508624)	Hurley P.A.... Grudzinskas J.G.	1993	PAPPA
45	Serological alpha 1-antichymotrypsin in Down's syndrome and Alzheimer's disease. (1387300)	Brugge K.... Saitoh T.	1992	SERPINA3
46	Growth and development of the brain in Down syndrome. (1838182)	Becker L.... Onodera K.	1991	SOD1, APP, S100B
47	Maternal serum unconjugated oestriol and human chorionic gonadotrophin levels in twin pregnancies: implications for screening for Down's syndrome. (1716981)	WALD N.... George L.	1991	CGA
48	Immunoglobulin G subclass deficiency and predisposition to infection in Down's syndrome. (2146585)	Loh R.K.... Ferrante A.	1990	CD40LG
49	Deposition of amyloid (A4) protein within the brains of persons with dementing disorders other than Alzheimer's disease and Down's syndrome. (2138261)	Mann D.M.... Jones D.	1990	APP
50	First-trimester maternal serum biochemical indicators in Down syndrome. (1694994)	Brock D.J.... Seppala M.	1990	CGA, AFP, PSG1

Genes related to down syndrome according to GeneCards:

(show top 50)    (show all 533)

id	Symbol	Description	Score	GeneCards Section Context
1	RCAN1	regulator of calcineurin 1	11.1	Summaries, Publications, Aliases & Descriptions, Orthologs
2	DSCR3	Down syndrome critical region gene 3	11.1	Orthologs, Summaries, Publications, Transcripts (show all 5 sections) Aliases & Descriptions
3	PIGP	phosphatidylinositol glycan anchor biosynthesis, class P	11.1	Summaries, Publications, Aliases & Descriptions, Orthologs
4	DSCR4	Down syndrome critical region gene 4	11.1	Transcripts, Publications, Proteins, Aliases & Descriptions (show all 5 sections) Summaries
5	BACE2	beta-site APP-cleaving enzyme 2	11.1	Publications, Aliases & Descriptions, Summaries
6	DCR	Down syndrome chromosome region	11.1	Disorders, Summaries, Publications, Aliases & Descriptions
7	DYRK1A	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	11.1	Functions, Summaries, Publications
8	SIM2	single-minded homolog 2 (Drosophila)	11.1	Summaries, Publications, Functions
9	RCAN3	RCAN family member 3	11.1	Publications, Aliases & Descriptions, Orthologs
10	RCAN2	regulator of calcineurin 2	11.1	Publications, Aliases & Descriptions, Orthologs
11	WRB	tryptophan rich basic protein	11.1	Summaries, Publications
12	DSCR10	Down syndrome critical region gene 10 (non-protein coding)	11.1	Transcripts, Proteins, Aliases & Descriptions
13	DSCR6	Down syndrome critical region gene 6	11.1	Transcripts, Publications, Aliases & Descriptions, Orthologs
14	PSMG1	proteasome (prosome, macropain) assembly chaperone 1	11.1	Publications, Aliases & Descriptions, Orthologs
15	DSCAM	Down syndrome cell adhesion molecule	11.1	Publications, Transcripts, Aliases & Descriptions, Functions (show all 6 sections) Proteins, Orthologs
16	C21orf33	chromosome 21 open reading frame 33	11.0	Publications, Summaries
17	S100B	S100 calcium binding protein B	11.0	Publications, Summaries
18	SIM1	single-minded homolog 1 (Drosophila)	11.0	Publications, Summaries
19	UBB	ubiquitin B	11.0	Publications, Summaries
20	LOC100420893	Down syndrome critical region gene 3 pseudogene	11.0	Aliases & Descriptions
21	DSCR9	Down syndrome critical region gene 9 (non-protein coding)	11.0	Transcripts, Proteins, Aliases & Descriptions
22	DSCR8	Down syndrome critical region gene 8	11.0	Transcripts, Publications, Aliases & Descriptions, Proteins
23	BRWD1	bromodomain and WD repeat domain containing 1	11.0	Publications, Summaries
24	GABPA	GA binding protein transcription factor, alpha subunit 60kDa	11.0	Summaries
25	STMN2	stathmin-like 2	11.0	Publications, Summaries
26	WDR4	WD repeat domain 4	11.0	Disorders, Summaries
27	DSERG1	Down syndrome encephalopathy related protein 1	11.0	Proteins, Transcripts, Aliases & Descriptions
28	DSCAML1	Down syndrome cell adhesion molecule like 1	11.0	Transcripts, Aliases & Descriptions, Proteins, Orthologs
29	GATA1	GATA binding protein 1 (globin transcription factor 1)	11.0	Publications
30	MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	11.0	Publications
31	OLIG2	oligodendrocyte lineage transcription factor 2	11.0	Summaries
32	KCNJ3	potassium inwardly-rectifying channel, subfamily J, member 3	11.0	Summaries
33	TAM	Myeloproliferative syndrome, transient (transient abnormal	11.0
34	HLCS	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	11.0	Publications
35	MAPT	microtubule-associated protein tau	11.0	Publications
36	RUNX1	runt-related transcription factor 1	11.0	Publications
37	CGB7	chorionic gonadotropin, beta polypeptide 7	11.0	Publications
38	AFP	alpha-fetoprotein	11.0	Publications
39	CGA	glycoprotein hormones, alpha polypeptide	11.0	Publications
40	CGB	chorionic gonadotropin, beta polypeptide	11.0	Publications
41	FAM215A	family with sequence similarity 215, member A (non-protein coding)	11.0	Publications
42	CBS	cystathionine-beta-synthase	11.0	Publications
43	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	11.0	Publications, UniProt Related
44	PAPPA	pregnancy-associated plasma protein A, pappalysin 1	11.0	Publications
45	PSG1	pregnancy specific beta-1-glycoprotein 1	11.0	Publications
46	CBR1	carbonyl reductase 1	11.0	Publications
47	DBN1	drebrin 1	11.0	Publications
48	ELF5	E74-like factor 5 (ets domain transcription factor)	11.0	Publications
49	ETS2	v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)	11.0	Publications
50	HMGN1	high mobility group nucleosome binding domain 1	11.0	Publications

Pathways related to down syndrome according to GeneDecks:

(show top 50)    (show all 130)

id	Pathway	Score	Top Affiliating Genes
1	Metabolic pathways20	15.2	PIGP, GCNT2, NANS, MTHFR, MT-ATP6, MTR
2	Neuroscience3	13.8	NCAM1, RET, CNP, KCNE1, BACE1, S100B
3	ILK Signaling36	12.6	NCK2, KITLG, NACA, RAC1, BDNF, JUND
4	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics34	11.5	RAC1, MTRR, MTHFR, MTR, GSTA1, GSTM1
5	Paxillin Interactions36	11.5	KITLG, RAC1, PAK1, BDNF, ITGA2, ITGAL
6	Alzheimers Disease Pathway36	11.4	BACE2, FGFR3, APOE, APP, MAPT, SRC
7	PTEN Pathway36	11.4	KITLG, RAC1, BDNF, ITGA2, ITGAL, ITGB2
8	Doxorubicin Pathway, Pharmacokinetics34	11.2	XDH, GPX1, CBR1, CBR3, CAT, AKR1A1
9	Phospholipase-C Pathway36	11.1	KITLG, BMP6, RAC1, BDNF, CD79A, ITGA2
10	Neurotrophin signaling pathway20	11.1	RAC1, BDNF, YWHAG, BAX, IRAK1, MAPK8
11	Actin-Based Motility by Rho Family GTPases36	10.9	PAK1, BDNF, ITGAL, GSN, FGFR3, IL2
12	Rho Family GTPases36	10.9	KITLG, RDX, BMP6, RAC1, PAK1, BDNF
13	Molecular Mechanisms of Cancer36	10.7	KITLG, BMP6, BDNF, BAX, JAK1, ITGA2
14	DHA Signaling36	10.6	KITLG, BMP6, BDNF, YWHAG, BAX, FGFR3
15	MAPK Signaling36	10.5	KITLG, BMP6, RAC1, PAK1, BDNF, ITGA2
16	ERK Signaling36	10.5	KITLG, BMP6, PAK1, ITGAL, ITGB1, ITGB2
17	Pathways in cancer20	10.4	RET, VEGFA, RAC1, BAX, JAK1, ITGA2
18	Akt Signaling36	10.3	ITGA2, ITGAL, ITGB2, FLT3, FGFR3, IL10
19	JNK Pathway36	10.3	KITLG, BMP6, RAC1, PAK1, BAX, FLT3
20	Rac1 Pathway36	10.2	KITLG, BMP6, RAC1, PAK1, BDNF, ITGA2
21	Immune response IL-1 signaling pathway10	10.1	SERPINE1, UBB, JUND, IRAK1, IL1A, IL1B
22	Immune response_IL-1 signaling pathway41	10.1	SERPINE1, UBB, JUND, IRAK1, IL1A, IL1B
23	NF-KappaB (p50-p65) Pathway36	10.1	KITLG, BMP6, BDNF, UBB, IRAK1, FGFR3
24	Renin-Angiotensin Pathway36	10.1	KITLG, BMP6, RAC1, PAK1, BDNF, JAK2
25	PGC1Alpha Pathway36	10.1	BMP6, BAX, IL13, IL1A, IL1B, IL1R1
26	p70S6K Signaling36	10.1	KITLG, BMP6, RAC1, BDNF, YWHAG, JAK1
27	GPCR Pathway36	10.1	KITLG, BMP6, RAC1, PAK1, BDNF, FLT3
28	Osteoclast differentiation20	10.0	RAC1, JUND, JAK1, IL1A, IL1B, IL1R1
29	eNOS Signaling36	10.0	KITLG, BMP6, BDNF, CHRNA7, CHRNA3, CHRNB2
30	Tuberculosis20	10.0	RAB5A, BAX, JAK1, JAK2, ITGB2, IRAK1
31	Jak-STAT signaling pathway20	9.9	LEP, LEPR, MPL, JAK1, JAK2, IL10
32	Endothelin-1 Signaling Pathway36	9.8	BMP6, FLT3, FGFR3, IL10, IL13, IL1A
33	NF-KappaB Family Pathway36	9.8	KITLG, BMP6, BDNF, IRAK1, FGFR3, IL1A
34	Selected targets of GCR-alpha10	9.7	KITLG, LEP, CHAT, BACE1, CGA, INS
35	Tec Kinases Signaling36	9.6	KITLG, BMP6, RAC1, PAK1, BDNF, BAX
36	Measles20	9.6	MX1, MSN, JAK1, JAK2, IRAK1, IL13
37	TGF-Beta Pathway36	9.6	KITLG, BMP6, BDNF, BAX, FGFR3, IL10
38	Pertussis20	9.5	ITGB1, ITGB2, IRAK1, IL10, IL1A, IL1B
39	p53 Mediated Apoptosis36	9.5	KITLG, BMP6, BDNF, BAX, FGFR3, IL2
40	Cellular Apoptosis Pathway36	9.5	KITLG, VDAC2, BMP6, BDNF, BAX, FGFR3
41	JAK-STAT Pathway36	9.4	KITLG, BMP6, BDNF, UBB, BAX, MPL
42	Antioxidant Action of Vitamin-C36	9.3	KITLG, BMP6, RAC1, BDNF, BAX, JAK2
43	Apoptotic Pathways in Synovial Fibroblasts36	9.3	KITLG, BMP6, BDNF, FGFR3, IL2, IL2RA
44	PAK Pathway36	9.3	KITLG, BMP6, RAC1, PAK1, BDNF, BAX
45	MAPK Family Pathway36	9.3	KITLG, BMP6, RAC1, PAK1, BDNF, BAX
46	Malaria20	9.2	CD36, CD40LG, ITGAL, ITGB2, GYPC, IL10
47	Pancreatic Adenocarcinoma36	9.2	KITLG, BMP6, RAC1, BDNF, JAK1, JAK2
48	p38 Signaling36	8.9	KITLG, BMP6, RAC1, PAK1, BDNF, BAX
49	Cytokine-cytokine receptor interaction20	8.8	KITLG, VEGFA, LEP, LEPR, MPL, CD40LG
50	MIF Regulation of Innate Immune Cells36	8.5	BMP6, BAX, IL10, IL13, IL1A, IL1B

Compounds related to down syndrome according to GeneDecks:

(show top 50)    (show all 525)

id	Compound	Score	Top Affiliating Genes
1	calcium32 9 18 9	21.8	NCL, REG1A, REST, CNR1, KISS1, KITLG
2	cysteine32	16.2	SERPINA3, NAPA, RAB5A, RAC1, USP5, CLU
3	atp32	15.4	RFC1, NCAM1, NCL, RET, NAPG, NAPA
4	oxygen32 18	15.8	KITLG, SERPINA3, RAC1, CLU, PARP1, BDNF
5	hydrogen32 18	15.4	CNR2, RAC1, BDNF, BACE1, MT-ATP6, MTR
6	dopamine32 9 18 9	16.9	NCAM1, RET, SERPINA3, VIP, BMP6, RABEP2
7	cholesterol32 9 18 9	16.6	CNR2, KITLG, SERPINE1, SERPINA3, RAC1, CLU
8	nmda32 42	14.5	NCAM1, REST, CNR1, KISS1R, BDNF, KCNJ6
9	superoxide32 18	14.4	KITLG, SERPINA3, RAC1, CLU, KCNJ5, LEPR
10	iron32 18	14.3	PICALM, KITLG, SERPINA3, BDNF, BACH1, S100A1
11	glucose32	13.3	KISS1, PAK1, KCNJ5, S100B, CGB, FST
12	adp32 18	14.0	RFC1, RET, SERPINC1, RAC1, PAK1, KCNJ5
13	estradiol32 9 18 9	15.9	KITLG, SERPINE1, SERPINA3, PAPPA, BDNF, LEPR
14	nitric oxide32 9 18 9	15.9	NCAM1, KITLG, BMP6, KCNE1, KCNJ5, CHAT
15	adenylate32	12.9	NCL, CNP, CNR1, CNR2, KITLG, SERPINC1
16	ethanol32 34 9 18 9	16.7	NCAM1, KITLG, CLU, BDNF, LEPR, CHRNA7
17	polyacrylamide32	12.3	NCL, SERPINA3, LEPR, MT3, FST, CD55
18	pyruvate32	12.0	CHAT, FABP12, GPI, ALDH9A1, HSPA5, CA2
19	folate32	12.0	SERPINC1, SERPINA3, CLU, MTRR, MTHFR, MTR
20	silver32	11.9	NCL, SERPINA3, BDNF, CHAT, S100A1, FMR1
21	histamine32 18	12.7	NCAM1, CNR1, KITLG, VIP, BMP6, BDNF
22	kainate32	11.6	NCAM1, REST, CNR1, CLU, BDNF, CHAT
23	sodium dodecylsulfate32	11.6	SERPINE1, BMP6, CGB5, FST, CD79A, ITGA2
24	polysaccharide32	11.5	NCAM1, KITLG, GCNT2, SERPINC1, SERPINA3, BMP6
25	formaldehyde32 18	12.4	CHAT, S100B, MPO, CD79A, CD40LG, CDKN3
26	paraffin32	11.2	NCAM1, RET, KITLG, SERPINA3, VEGFA, CLU
27	lactate32	11.1	NCAM1, KITLG, VIP, BMP6, CLU, BDNF
28	matrigel32	11.0	NCAM1, SERPINE1, VEGFA, BMP6, RAC1, CLU
29	chloramphenicol32 9 9	12.7	SERPINC1, SERPINE1, MX1, LBR, S100B, MPO
30	calcitriol32 42 9 18 9	14.7	KITLG, BMP6, CLU, S100G, CD36, ITGAL
31	citrate32	10.7	CD79A, CDKN3, INTS4, FABP3, HSP90AA1, CAT
32	n acetylcysteine32	10.6	SERPINC1, CLU, BDNF, JAK1, JAK2, CD79A
33	glycerol32 9 18 9	13.5	SERPINC1, LEP, CD79A, CD36, ITGA2, MMP2
34	hypoxanthine32 9 18 9	13.4	XDH, CGB5, MPO, FMR1, IL4, ENO2
35	alpha tocopherol32	10.4	LEP, MTHFR, XDH, CD36, CDKN3, ITGAL
36	c2ceramide32	10.3	PARP1, BAX, CGB5, IL1B, MAPK8, CASP3
37	actinomycin d32	10.0	NCL, CNN1, KITLG, SERPINE1, VEGFA, CLU
38	mifepristone32 42 9 9	12.9	BAX, LBR, CGA, CGB, CGB5, JAK1
39	chloroquine32 34 9 9	12.9	SERPINC1, BMP6, BACE1, CD79A, ITGAL, GSR
40	thyroxine32 18	10.9	SERPINA3, VIP, LEP, LEPR, CGA, CGB
41	vinblastine32 9 9	11.8	BDNF, BAX, CGA, CGB5, ITGAL, ITGB1
42	mg 13232 42	10.7	PARP1, BAX, JAK2, IL1A, IL1B, IL8
43	methotrexate32 34 42 9 9	13.7	KITLG, SERPINE1, SERPINA3, BMP6, LEP, MTRR
44	lactacystin32	9.6	PARP1, BACE1, JAK2, CDC25C, CDKN3, MMP9
45	adriamycin32	9.4	BAX, CD36, FN1, GSR, GSTP1, IGF1
46	5fluorouracil32	9.2	KITLG, VEGFA, BAX, MTHFR, MPL, MPO
47	8-isoprostane32	8.6	SERPINE1, LEP, XDH, MPO, MMP2, MMP9
48	herbimycin a32 42	9.6	RET, KITLG, BMP6, JAK2, CD36, CD40LG
49	triptolide32	8.5	VEGFA, PARP1, BAX, IL1B, IL2, IL6
50	docetaxel32 34 9 9	11.4	VEGFA, CLU, PARP1, BAX, GSTP1, ENO2

Cellular components related to down syndrome according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:005737	19.5	TRAF6, PDXK, PDGFRB, PDGFRA, PFAS, NFKBIA
2	nucleus	GO:005634	18.6	WDR4, WT1, RHOA, PDXK, PDGFRB, PDGFRA
3	cytosol	GO:005829	16.8	GFAP, HDC, ADA, RIPK2, NEFL, NME2
4	plasma membrane	GO:005886	15.0	NCAM1, NCAM2, REPS1, TNF, ABCC1, ABCB11
5	mitochondrion	GO:005739	13.3	ACAT2, ACO2, AGPS, TYMS, TTC3, C6orf203
6	extracellular region	GO:005576	12.3	KISS1, REG1A, NCAM1, WDR1, KITLG, SERPINC1
7	neuronal cell body	GO:043025	11.8	DPYSL2, TGFB1, CRMP1, SNAP25, SNCG, DPYSL5
8	membrane	GO:016020	11.8	PSEN1, DCXR, STS, STMN2, DSCAM, ACHE
9	axon	GO:030424	11.6	DSCAM, TGFB1, STMN2, NEFH, NEFL, NEFM
10	cell surface	GO:009986	11.4	NTRK1, TNF, TPO, GHR, HSPD1, HSPA9
11	external side of plasma membrane	GO:009897	10.4	ITGB1, IL13, IL4, AQP4, ANXA5, IFNG
12	platelet alpha granule lumen	GO:031093	10.1	TGFB1, THBS1, ALB, IGF1, APP, FN1
13	extracellular space	GO:005615	9.4	CCL4, DPYSL3, TGFB1, THPO, THBS1, EDN1

Biological processes related to down syndrome according to GeneDecks:

(show all 43)

id	Name	GO ID	Score	Top Affiliating Genes
1	small molecule metabolic process	GO:044281	14.7	CHAT, LBR, MTHFR, MTR, XDH, CGA
2	synaptic transmission	GO:007268	12.9	CNP, KCNJ15, KCNJ6, KCNA4, KCNJ3, KCNJ5
3	nervous system development	GO:007399	12.9	VEGFA, RAB5A, BDNF, KCNQ2, CHRNA3, MTR
4	signal transduction	GO:007165	12.1	NCK2, RET, KITLG, RCAN1, BST2, CHRNA7
5	apoptotic process	GO:006915	11.8	PCNT, RABEP1, RAC1, PAK1, CIB1, UBB
6	negative regulation of neuron apoptotic process	GO:043524	11.7	BDNF, BAX, MT3, MECP2, GPI, NTF3
7	positive regulation of cell proliferation	GO:008284	11.7	REG1A, VIP, VEGFA, LEP, CHRNA7, CGA
8	nucleobase-containing small molecule metabolic process	GO:055086	11.7	XDH, CDA, GSR, IMPDH2, GPX1, CAT
9	memory	GO:007613	11.5	CNR1, CHRNA7, CHAT, CHRNB2, S100B, IL1B
10	hydrogen peroxide catabolic process	GO:042744	11.5	MPO, GPX1, CAT, TPO, HBB, PRDX2
11	purine nucleobase metabolic process	GO:006144	11.3	XDH, IMPDH2, GPX1, CAT, HPRT1, PFAS
12	cell-cell signaling	GO:007267	11.2	BST2, CGA, CGB, ITGB2, INHA, INS
13	nerve growth factor receptor signaling pathway	GO:048011	11.2	RAC1, UBB, ITSN1, IRAK1, MAPK8, MAG
14	axon guidance	GO:007411	11.2	NCAM1, NCK2, RAC1, PAK1, BDNF, KCNQ2
15	response to oxidative stress	GO:006979	11.2	CHRNA4, MPO, MMP9, MBL2, GPX4, GPX5
16	glucose metabolic process	GO:006006	11.1	LEP, INS, FABP5, ENO2, GPI, ALDH5A1
17	positive regulation of transcription from RNA polymerase II promoter	GO:045944	11.0	NCK2, SERPINE1, VEGFA, BMP6, UBB, CGA
18	negative regulation of transcription from RNA polymerase II promoter	GO:000122	11.0	REST, UXT, PARP1, LEP, UBB, BACH1
19	activation of MAPK activity	GO:000187	11.0	CHRNA7, UBB, FPR1, IRAK1, IL1B, MAPK10
20	blood coagulation	GO:007596	10.8	WDR1, SERPINC1, SERPINE1, VEGFA, RAB5A, RAC1
21	response to lipopolysaccharide	GO:032496	10.8	CNR1, CNR2, JAK2, MMP9, IRAK1, IL13
22	response to ethanol	GO:045471	10.8	CNR1, CHAT, CHRNB2, MMP9, GSN, IL13
23	anti-apoptosis	GO:006916	10.8	BDNF, UBB, MPO, CD40LG, IRAK1, GSTP1
24	response to nicotine	GO:035094	10.8	CNR1, CHRNA7, CHRNB2, CHRNA4, MMP9, IL13
25	positive regulation of angiogenesis	GO:045766	10.7	SERPINE1, VEGFA, CHRNA7, MMP9, IL1A, IL1B
26	aging	GO:007568	10.7	CNR1, GSN, IL1B, CCL2, AMH, ALDOC
27	response to hypoxia	GO:001666	10.7	VEGFA, PAK1, LEP, CHRNA7, CHAT, CHRNB2
28	positive regulation of cell migration	GO:030335	10.6	RET, VEGFA, CGA, JAK2, ITGB1, INS
29	platelet degranulation	GO:002576	10.5	WDR1, SERPINE1, VEGFA, CLU, CD36, FN1
30	positive regulation of transcription, DNA-dependent	GO:045893	10.5	PICALM, REST, RET, MT3, MLL, IRAK1
31	cellular component movement	GO:006928	10.4	RAC1, MSN, JAK2, ITGAL, FPR1, IL13
32	induction of apoptosis	GO:006917	10.4	MX1, BAX, INHA, APOE, CASP3, CASP1
33	platelet activation	GO:030168	10.4	WDR1, SERPINE1, VEGFA, RAC1, CLU, MPL
34	positive regulation of apoptotic process	GO:043065	10.3	REST, CNR1, CLU, BAX, JAK2, ITGB1
35	positive regulation of I-kappaB kinase/NF-kappaB cascade	GO:043123	10.3	BST2, UBB, S100B, CD36, IRAK1, IL1A
36	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	10.2	KITLG, VEGFA, JAK2, CD36, ITGB1, INS
37	positive regulation of NF-kappaB transcription factor activity	GO:051092	10.2	CLU, UBB, IRAK1, INS, IL1B, IL6
38	response to drug	GO:042493	10.1	BDNF, CHRNA3, CHAT, ITGB1, MMP9, IL10
39	negative regulation of cell proliferation	GO:008285	10.0	NCK2, REST, KISS1R, CIB1, JAK2, CDKN3
40	induction of apoptosis by extracellular signals	GO:008624	9.9	RAC1, UBB, BAX, ITSN1, MAPK8, CASP3
41	negative regulation of apoptotic process	GO:043066	9.5	SERPINE1, VEGFA, CLU, LEP, MT3, INS
42	positive regulation of nitric oxide biosynthetic process	GO:045429	9.3	JAK2, INS, IL1B, IFNG, HSP90AA1, ESR1
43	inflammatory response	GO:006954	9.1	CNR2, SERPINA3, BMP6, RAC1, CD40LG, ITGAL

Molecular functions related to down syndrome according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	18.6	RTN4, TCF12, DNM1, DNASE1, TFF2, TFAM
2	protein homodimerization activity	GO:042803	12.8	HLCS, CRYAB, CRP, NTRK1, OLIG2, DAPK3
3	ATP binding	GO:005524	12.7	PDXK, ABCB1, ABCB11, ABCC1, ABCC13, ABCG4
4	receptor binding	GO:005102	11.3	GNB2L1, HSPA8, CAT, TNFSF10, SRC, NTF3
5	identical protein binding	GO:042802	10.3	SYP, DNM1, THBS1, PFKM, PFKL, NFKBIA
6	growth factor activity	GO:008083	10.1	GPI, IGF1, AMH, GH1, PTN, NTF3
7	hormone activity	GO:005179	10.0	GH2, SST, EDN1, THPO, TG, PRL
8	cytokine activity	GO:005125	9.2	IL7, CCL4, GPI, IFNG, TNF, TNFSF10