Chromosomal Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR084 MIFTS: 34	Chromosomal Disease Categories: Genetic diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Chromosomal Disease

MalaCards integrated aliases for Chromosomal Disease:

Name: Chromosomal Disease ¹² ¹⁵

Congenital Chromosomal Disease ⁷³

Chromosomal Disorders ⁵⁵

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other chromosome abnormalities, not elsewhere classified

Chromosomal abnormality, unspecified

External Ids:

Disease Ontology ¹² DOID:0080014

ICD10 ³³ Q99.9

UMLS ⁷³ C0008626

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Summaries for Chromosomal Disease

Disease Ontology : ¹² A genetic disease that has material basis in extra, missing, or re-arranged chromosomes.

MalaCards based summary : Chromosomal Disease, also known as congenital chromosomal disease, is related to patau syndrome and prader-willi syndrome. An important gene associated with Chromosomal Disease is AFP (Alpha Fetoprotein), and among its related pathways/superpathways are Circadian rythm related genes and A-beta Pathways: Plaque Formation and APP Metabolism. The drugs Cetrorelix and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Chromosomal Disease

Diseases in the Chromosomal Disease family:

Chromosomal Deletion Syndrome

Diseases related to Chromosomal Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)

#	Related Disease	Score	Top Affiliating Genes
1	patau syndrome	30.9	AFP UROD
2	prader-willi syndrome	30.8	GABRB3 MAGEL2 MKRN3 NDN UBE3A
3	down syndrome	30.6	AFP APP BACE1 DSCAM DYRK1A GATA1
4	angelman syndrome	29.4	GABRB3 MAGEL2 NDN UBE3A UROD
5	mosaic variegated aneuploidy syndrome 1	10.8
6	48, xxxx	10.8
7	jacobsen syndrome	10.6
8	emanuel syndrome	10.6
9	diploid-triploid mosaicism	10.6
10	tetrasomy x	10.6
11	trisomy 22	10.6
12	velocardiofacial syndrome	10.5
13	2q37 deletion syndrome	10.5
14	cri-du-chat syndrome	10.5
15	alpha-thalassemia/mental retardation syndrome, chromosome 16-related	10.5
16	chromosome 18p deletion syndrome	10.5
17	chromosome 9p deletion syndrome	10.5
18	chromosome 1p36 deletion syndrome	10.5
19	chromosome 3q29 deletion syndrome	10.5
20	chromosome 16p13.3 deletion syndrome, proximal	10.5
21	chromosome 13q14 deletion syndrome	10.5
22	ring chromosome 14 syndrome	10.5
23	selective igm deficiency disease	10.5
24	oligomeganephronia	10.5
25	turner syndrome	10.5
26	mbd5 haploinsufficiency	10.5
27	15q13.3 microduplication syndrome	10.5
28	16q24.3 microdeletion syndrome	10.5
29	chromosome 10p deletion	10.5
30	chromosome 10p duplication	10.5
31	chromosome 10q duplication	10.5
32	chromosome 13q duplication	10.5
33	chromosome 14q deletion	10.5
34	chromosome 16q deletion	10.5
35	chromosome 17q deletion	10.5
36	chromosome 18p tetrasomy	10.5
37	chromosome 19p deletion	10.5
38	chromosome 20p deletion	10.5
39	chromosome 22q duplication	10.5
40	chromosome 9p duplication	10.5
41	chromosome 9q deletion	10.5
42	chromosome 9q duplication	10.5
43	distal chromosome 18q deletion syndrome	10.5
44	mosaic trisomy 14	10.5
45	mosaic trisomy 22	10.5
46	proximal chromosome 18q deletion syndrome	10.5
47	tetrasomy 9p	10.5
48	tracheoesophageal fistula	10.5
49	trisomy 2 mosaicism	10.5
50	distal trisomy 10q	10.5

Graphical network of the top 20 diseases related to Chromosomal Disease:

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Symptoms & Phenotypes for Chromosomal Disease

GenomeRNAi Phenotypes related to Chromosomal Disease according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-4	10.09	DYRK1A
2	Decreased viability	GR00240-S-1	10.09	GATA1
3	Decreased viability	GR00342-S-3	10.09	DYRK1A
4	Decreased viability	GR00381-A-1	10.09	CORO7 DSCAM TBX1 UROD
5	Decreased viability	GR00402-S-2	10.09	AFP APP BACE1 CORO7 DSCAM DYRK1A
6	no effect	GR00402-S-1	9.62	AFP APP BACE1 CORO7 DSCAM DYRK1A

MGI Mouse Phenotypes related to Chromosomal Disease:

⁴⁶ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.38	AFP APP BACE1 DSCAM DYRK1A GABRB3
2	growth/size/body region	MP:0005378	10.32	APP BACE1 DSCAM DYRK1A GABRB3 GATA1
3	mortality/aging	MP:0010768	10.31	AFP APP BACE1 DSCAM DYRK1A GABRB3
4	cellular	MP:0005384	10.3	APP BACE1 DSCAM DYRK1A GATA1 GTF2I
5	homeostasis/metabolism	MP:0005376	10.27	AFP APP BACE1 GATA1 GTF2IRD1 MAGEL2
6	nervous system	MP:0003631	10.15	APP BACE1 DSCAM DYRK1A GABRB3 GTF2I
7	endocrine/exocrine gland	MP:0005379	10.1	AFP DYRK1A GTF2I MAGEL2 RAI1 RCAN1
8	craniofacial	MP:0005382	9.99	DSCAM GABRB3 GTF2I GTF2IRD1 RAI1 TBX1
9	normal	MP:0002873	9.96	APP BACE1 GABRB3 GATA1 GTF2I NDN
10	muscle	MP:0005369	9.95	APP BACE1 DSCAM GTF2IRD1 MAGEL2 NDN
11	no phenotypic analysis	MP:0003012	9.92	APP BACE1 DSCAM GABRB3 GTF2I GTF2IRD1
12	reproductive system	MP:0005389	9.81	AFP APP DSCAM DYRK1A GABRB3 GTF2I
13	respiratory system	MP:0005388	9.5	DSCAM GATA1 GTF2IRD1 MAGEL2 NDN RAI1
14	skeleton	MP:0005390	9.23	DSCAM GABRB3 GATA1 GTF2IRD1 MAGEL2 PAPPA

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Drugs & Therapeutics for Chromosomal Disease

Drugs for Chromosomal Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 524)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cetrorelix

Approved, Investigational

Phase 4,Phase 3

120287-85-6

16129715 25074887

Progesterone

Approved, Vet_approved

Phase 4,Phase 3,Not Applicable

57-83-0

5994

Dasatinib

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

302962-49-8

3062316

Vincristine

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

57-22-7, 2068-78-2

5978

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

1177-87-3

Cytarabine

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

147-94-4

6253

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

50-02-2

5743

Methotrexate

Approved

Phase 4,Phase 3,Phase 2,Phase 1

59-05-2, 1959-05-2

126941

Idarubicin

Approved

Phase 4,Phase 3,Phase 2,Phase 1

58957-92-9

42890

Daunorubicin

Approved

Phase 4,Phase 3,Phase 2,Phase 1

20830-81-3

30323

Estradiol

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

50-28-2

5757

Estradiol valerate

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

979-32-8

Polyestradiol phosphate

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

28014-46-2

leucovorin

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

58-05-9

6006 143

Memantine

Approved, Investigational

Phase 4,Phase 2,Not Applicable

19982-08-2

4054

Dopamine

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

51-61-6, 62-31-7

681

Cyclophosphamide

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1

6055-19-2, 50-18-0

2907

Hydrocortisone acetate

Approved, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

50-23-7

5754

Lenalidomide

Approved

Phase 4,Phase 3,Phase 2,Phase 1

191732-72-6

216326

Ganirelix

Approved

Phase 4,Phase 3

123246-29-7, 124904-93-4

25081094

Leuprolide

Approved, Investigational

Phase 4

53714-56-0

657181 3911

Heparin

Approved, Investigational

Phase 4

9005-49-6

772 46507594

Enoxaparin

Approved

Phase 4

9005-49-6

772

Dalteparin

Approved

Phase 4

9005-49-6

Lovastatin

Approved, Investigational

Phase 4,Phase 2

75330-75-5

53232

Riluzole

Approved, Investigational

Phase 4

1744-22-5

5070

Prednisone

Approved, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

53-03-2

5865

Mitoxantrone

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

65271-80-9

4212

Celiprolol

Approved, Investigational

Phase 4

56980-93-9

Testosterone

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

58-22-0

6013

Testosterone enanthate

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

315-37-7

9416

Methyltestosterone

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

58-18-4

6010

Testosterone undecanoate

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

5949-44-0

Methylphenidate

Approved, Investigational

Phase 4,Phase 2

113-45-1

4158

Risperidone

Approved, Investigational

Phase 4

106266-06-2

5073

Liraglutide

Approved

Phase 4,Phase 3

204656-20-2

44147092

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

59-30-3

6037

Deslorelin

Investigational, Vet_approved

Phase 4,Phase 3

57773-65-6

Lactitol

Investigational

Phase 4

585-86-4

3871

Progestins

Phase 4,Phase 3

Follicle Stimulating Hormone

Phase 4,Not Applicable

Hormone Antagonists

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hormones

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Fertility Agents

Phase 4,Phase 3,Not Applicable

asparaginase

Phase 4,Phase 3,Phase 2,Phase 1

Anti-Bacterial Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

BB 1101

Phase 4,Phase 3,Phase 2,Phase 1

Topoisomerase Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 925)

#	Name	Status	NCT ID	Phase	Drugs
1	Assessment of Implantation Potential of Embryos by Time-lapse Technology	Unknown status	NCT01760278	Phase 4	recombinant Follicle Stimulating Hormone (rFSH)
2	Multicenter, PhaseⅣ, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib	Unknown status	NCT02389920	Phase 4	Nilotinib
3	Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia	Unknown status	NCT01990807	Phase 4	Idarubicin(IDA)
4	Compliance: Role Emerges for Success in Chronic Myelogenous Leukaemia (CML): Evaluation aND Optimisation	Unknown status	NCT01243489	Phase 4
5	Embryo Aneuploidies and Ovarian Stimulation	Completed	NCT00707525	Phase 4
6	Near Infrared Spectroscopy (NIRS) and Superior Mesenteric Artery (SMA) Doppler Patterns as Predictor of Feeding Tolerance in Very Low Birth Weight (VLBW) IntraUterine Growth Restricted (IUGR) and NON IUGR Infants	Completed	NCT01341236	Phase 4
7	Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies	Completed	NCT01608347	Phase 4	LMWH+Folic acid;Folic Acid
8	Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome	Completed	NCT02642653	Phase 4	Lovastatin
9	Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase	Completed	NCT01061177	Phase 4	Nilotinib
10	Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.	Completed	NCT03015909	Phase 4	Somatropin
11	Growth Response in Girls With Turner Syndrome	Completed	NCT01734486	Phase 4	somatropin;somatropin
12	Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome	Completed	NCT01518062	Phase 4	somatropin;somatropin;somatropin;oestrogen
13	First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study	Completed	NCT01419249	Phase 4
14	Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents	Completed	NCT01245374	Phase 4
15	Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years	Completed	NCT01066052	Phase 4	r-hGH
16	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism	Completed	NCT00837616	Phase 4	17 B estradiol orally;17 B estradiol
17	Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome	Completed	NCT00266656	Phase 4	Humatrope
18	Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®	Completed	NCT00256126	Phase 4	Saizen;Saizen
19	Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome	Completed	NCT00134745	Phase 4	estradiol
20	Riluzole in Fragile X Syndrome	Completed	NCT00895752	Phase 4	Riluzole
21	Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?	Completed	NCT01298180	Phase 4	Growth hormone (Genotonorm® or Omnitrope®)
22	Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome	Completed	NCT01112683	Phase 4	Memantine;Placebo
23	Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response	Completed	NCT01043874	Phase 4	Nilotinib
24	Study of Molecular Response in Adult Patients on Nilotinib With Philadelphia Chromosome Positive Chronic Myelogenous Leukemia (Ph+ CML) in Chronic Phase and a Suboptimal Molecular Response to Imatinib	Completed	NCT00644878	Phase 4	Nilotinib
25	LAL-Ph-2000: Treatment of Acute Lymphoblastic Leukemia Chromosome Philadelphia Positive	Completed	NCT00526305	Phase 4	Vincristine;Daunorubicin;Prednisone;L-Asparaginase;Mitoxantrone;Cytosine Arabinoside;Hydrocortisone;Mercaptopurine;Cyclophosphamide;Dexamethasone
26	Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type	Completed	NCT00190411	Phase 4	celiprolol;Control
27	Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia (CML)	Completed	NCT00171899	Phase 4	imatinib mesylate
28	TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY	Recruiting	NCT03325647	Phase 4	Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
29	The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome	Recruiting	NCT00768820	Phase 4	methylphenidate, fluoxetin, risperidone
30	Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome	Recruiting	NCT03031626	Phase 4
31	Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment	Active, not recruiting	NCT02408445	Phase 4	testosterone cypionate 200mg/ml
32	GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition	Active, not recruiting	NCT03616509	Phase 4	Growth hormone;Placebo
33	Safety And Efficacy Study Of Bosutinib In Patients With Philadelphia Chromosome Positive Chronic Myeloid Leukemia Previously Treated With One Or More Tyrosine Kinase Inhibitors	Active, not recruiting	NCT02228382	Phase 4	Bosutinib
34	Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age	Suspended	NCT00646893	Phase 4
35	Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib	Terminated	NCT00461929	Phase 4
36	LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)	Terminated	NCT01198054	Phase 4	Lenalidomide
37	A Study of the Effects of a Novel Ovarian Stimulation Regimen on Embryo Aneuploidy Rates in In Vitro Fertilization (IVF)	Terminated	NCT00866008	Phase 4	Ovarian stimulation
38	Impact of Parental Support on Pregnancy Outcomes (IPSO) Trial- Day 3 Preimplantation Genetic Screening (PGS) With Day 5 Fresh Transfer	Terminated	NCT01194531	Phase 4
39	Liraglutide Use in Prader-Willi Syndrome	Terminated	NCT01542242	Phase 4	Liraglutide
40	Study of Nilotinib in Ph+ CML-CP Patients With Low Imatinib Trough Plasma Concentrations	Terminated	NCT01131325	Phase 4	nilotinib
41	Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years	Unknown status	NCT00546988	Phase 3
42	The Results of Preimplantation Genetic Diagnosis and Preimplantation Genetic Screening of Embryos Obtained From GnRH-agonist Long and GnRH-antagonist Ovarian Stimulation Protocol	Unknown status	NCT01636505	Phase 3	ghrh antagonist (cetrotide/orgalutran);gnrh agonist (suprefact)
43	Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome	Unknown status	NCT02942498	Phase 3	Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
44	Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS	Unknown status	NCT02231008	Phase 2, Phase 3	tasimelteon
45	Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion	Unknown status	NCT00966810	Phase 2, Phase 3
46	Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.	Unknown status	NCT02070211	Phase 2, Phase 3
47	Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome	Unknown status	NCT00603109	Phase 3	rimonabant;placebo
48	Growth Hormone Use in Adults With Prader-Willi Syndrome	Unknown status	NCT00444964	Phase 3	Nutropin AQ
49	Vitamin E in Aging Persons With Down Syndrome	Unknown status	NCT00056329	Phase 3	Vitamin E;multivitamin;Placebo
50	Lenalidomide Versus Placebo in Myelodysplastic Syndromes With a Deletion 5q[31] Abnormality	Completed	NCT00179621	Phase 3	Lenalidomide 5 mg;Lenalidomide 10 mg;Placebo

Search NIH Clinical Center for Chromosomal Disease

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Genetic Tests for Chromosomal Disease

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Anatomical Context for Chromosomal Disease

MalaCards organs/tissues related to Chromosomal Disease:

⁴¹

Testes

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Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

#	Title	Authors	Year
1	The ultrasound markers of chromosomal disease: a retrospective study. ( 8319061 )		1993
2	Quantitative histology of human fetal testes in chromosomal disease. ( 2937030 )	Coerdt W....Gropp A.	1985
3	Risk of chromosomal disease due to radiation. Tentative estimate from the study of radiation-induced translocations in human fibroblasts. ( 6828069 )	Dutrillaux B....Sportes M.	1983
4	Tentative estimate of the risk of chromosomal disease due to radiation-induced translocations in man. ( 7266558 )	Dutrillaux B....Prieur M.	1981
5	Chromosomal disease and strabismus. ( 900613 )	Howard R.	1977

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Genes for Chromosomal Disease

Genes related to Chromosomal Disease (0 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AFP	Alpha Fetoprotein	Protein Coding	23.76	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	1722580 11601289 11360279 (more) 1705804
2	BACE1	Beta-Secretase 1	Protein Coding	19.88	DISEASES inferred ¹⁵ ¹⁵
3	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	19.11	DISEASES inferred ¹⁵
4	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	18.8	DISEASES inferred ¹⁵
5	RCAN1	Regulator Of Calcineurin 1	Protein Coding	18.5	DISEASES inferred ¹⁵
6	UROD	Uroporphyrinogen Decarboxylase	Protein Coding	18.45	DISEASES inferred ¹⁵
7	GATA1	GATA Binding Protein 1	Protein Coding	17.9	DISEASES inferred ¹⁵
8	TBX1	T-Box 1	Protein Coding	17.89	DISEASES inferred ¹⁵
9	MKRN3	Makorin Ring Finger Protein 3	Protein Coding	17.68	DISEASES inferred ¹⁵
10	NDN	Necdin, MAGE Family Member	Protein Coding	17.64	DISEASES inferred ¹⁵
11	GTF2I	General Transcription Factor IIi	Protein Coding	17.55	DISEASES inferred ¹⁵
12	APP	Amyloid Beta Precursor Protein	Protein Coding	17.52	DISEASES inferred ¹⁵
13	MAGEL2	MAGE Family Member L2	Protein Coding	17.48	DISEASES inferred ¹⁵
14	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit	Protein Coding	17.48	DISEASES inferred ¹⁵
15	RAI1	Retinoic Acid Induced 1	Protein Coding	17.47	DISEASES inferred ¹⁵
16	DSCAM	DS Cell Adhesion Molecule	Protein Coding	17.42	DISEASES inferred ¹⁵
17	GTF2IRD1	GTF2I Repeat Domain Containing 1	Protein Coding	17.35	DISEASES inferred ¹⁵
18	PAPPA	Pappalysin 1	Protein Coding	9.16	DISEASES inferred ¹⁵
19	CORO7	Coronin 7	Protein Coding	7.5	DISEASES inferred ¹⁵ ¹⁵
20	PTER	Phosphotriesterase Related	Protein Coding	7.48	DISEASES inferred ¹⁵
21	SNRPN	Small Nuclear Ribonucleoprotein Polypeptide N	Protein Coding	7.34	DISEASES inferred ¹⁵
22	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	7.22	DISEASES inferred ¹⁵
23	IPW	Imprinted In Prader-Willi Syndrome	RNA Gene	7.08	DISEASES inferred ¹⁵
24	TTC3	Tetratricopeptide Repeat Domain 3	Protein Coding	7.07	DISEASES inferred ¹⁵
25	SNORD116@	Small Nucleolar RNA, C/D Box 116 Cluster	Gene Cluster	7.06	DISEASES inferred ¹⁵
26	ETS2	ETS Proto-Oncogene 2, Transcription Factor	Protein Coding	7.05	DISEASES inferred ¹⁵
27	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	7.01	DISEASES inferred ¹⁵
28	CRELD1	Cysteine Rich With EGF Like Domains 1	Protein Coding	6.94	DISEASES inferred ¹⁵
29	HIRA	Histone Cell Cycle Regulator	Protein Coding	6.93	DISEASES inferred ¹⁵
30	SNURF	SNRPN Upstream Reading Frame	Protein Coding	6.82	DISEASES inferred ¹⁵
31	NKX2-6	NK2 Homeobox 6	Protein Coding	6.77	DISEASES inferred ¹⁵
32	KCNJ6	Potassium Voltage-Gated Channel Subfamily J Member 6	Protein Coding	6.77	DISEASES inferred ¹⁵
33	DIO3	Iodothyronine Deiodinase 3	Protein Coding	6.76	DISEASES inferred ¹⁵ ¹⁵
34	SIM2	SIM BHLH Transcription Factor 2	Protein Coding	6.73	DISEASES inferred ¹⁵

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Variations for Chromosomal Disease

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Expression for Chromosomal Disease

Search GEO for disease gene expression data for Chromosomal Disease.

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Pathways for Chromosomal Disease

Pathways related to Chromosomal Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Circadian rythm related genes ¹	11.24	DYRK1A MAGEL2 RAI1 UBE3A
2	A-beta Pathways: Plaque Formation and APP Metabolism ⁶⁵	10.32	APP BACE1

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GO Terms for Chromosomal Disease

Cellular components related to Chromosomal Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axon	GO:0030424	8.92	APP BACE1 DSCAM DYRK1A

Biological processes related to Chromosomal Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	9.8	APP GATA1 NDN RAI1 TBX1 UBE3A
2	cellular response to copper ion	GO:0071280	9.37	APP BACE1
3	rhythmic process	GO:0048511	9.33	MAGEL2 RAI1 UBE3A
4	response to lead ion	GO:0010288	9.26	APP BACE1
5	cellular response to manganese ion	GO:0071287	8.96	APP BACE1
6	cellular protein metabolic process	GO:0044267	8.92	AFP APP BACE1 PAPPA

Molecular functions related to Chromosomal Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity	GO:0003700	9.1	GATA1 GTF2I GTF2IRD1 RAI1 RCAN1 TBX1

Sources

Sources for Chromosomal Disease

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

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia