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

MCID: CHR084 MIFTS: 40	Chromosomal Disease Categories: Genetic diseases
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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 down syndrome and autism. 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 myeloid, testes and brain, 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 all 23)

#	Related Disease	Score	Top Affiliating Genes
1	down syndrome	30.4	AFP APP BACE1 DSCAM DYRK1A GATA1
2	autism	29.3	GABRB3 MAGEL2 NDN SNRPN UBE3A
3	angelman syndrome due to imprinting defect in 15q11-q13	10.8	SNRPN UBE3A
4	triploidy	10.8	AFP PAPPA
5	balanoposthitis	10.8	AFP BACE1
6	childhood disintegrative disease	10.7	APP GABRB3
7	porphyria, congenital erythropoietic	10.7	GATA1 UROD
8	prader-willi syndrome due to maternal uniparental disomy of chromosome 15	10.7	MAGEL2 NDN SNRPN
9	prader-willi syndrome due to imprinting mutation	10.7	MAGEL2 NDN SNRPN
10	mosaic variegated aneuploidy syndrome 1	10.7
11	patau syndrome	10.6	AFP UROD
12	prader-willi syndrome due to paternal deletion of 15q11q13 type 1	10.6	MAGEL2 NDN SNRPN
13	prader-willi syndrome due to paternal deletion of 15q11q13 type 2	10.6	MAGEL2 NDN SNRPN
14	orofaciodigital syndrome viii	10.4	AFP PAPPA
15	chromosomal deletion syndrome	10.4	GTF2I GTF2IRD1 PTER RAI1
16	velocardiofacial syndrome	10.3
17	2q37 deletion syndrome	10.3
18	trehalase deficiency	10.2	DSCAM DYRK1A MAGEL2 RAI1 UBE3A
19	angelman syndrome	10.2	GABRB3 MAGEL2 NDN SNRPN UBE3A UROD
20	prader-willi syndrome	10.1	GABRB3 MAGEL2 MKRN3 NDN SNRPN UBE3A
21	potocki-lupski syndrome	10.1	PTER RAI1
22	strabismus	9.3
23	phelan-mcdermid syndrome	9.3

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	10.07	DYRK1A
2	Decreased viability	GR00240-S-1	10.07	GATA1
3	Decreased viability	GR00342-S-3	10.07	DYRK1A
4	Decreased viability	GR00381-A-1	10.07	UROD CORO7 DSCAM
5	Decreased viability	GR00402-S-2	10.07	AFP APP BACE1 CORO7 DSCAM DYRK1A
6	no effect	GR00402-S-1	9.62	RCAN1 SNRPN UBE3A UROD AFP APP

MGI Mouse Phenotypes related to Chromosomal Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.3	AFP APP BACE1 DSCAM DYRK1A GABRB3
2	growth/size/body region	MP:0005378	10.25	APP BACE1 DSCAM DYRK1A GABRB3 GATA1
3	cellular	MP:0005384	10.21	SNRPN UBE3A APP BACE1 DSCAM DYRK1A
4	mortality/aging	MP:0010768	10.2	BACE1 DSCAM DYRK1A GABRB3 GATA1 GTF2I
5	homeostasis/metabolism	MP:0005376	10.18	AFP APP BACE1 GATA1 GTF2IRD1 MAGEL2
6	nervous system	MP:0003631	10	GTF2I GTF2IRD1 MAGEL2 NDN RAI1 UBE3A
7	no phenotypic analysis	MP:0003012	9.76	APP BACE1 DSCAM GABRB3 GTF2I GTF2IRD1
8	normal	MP:0002873	9.65	GABRB3 GATA1 GTF2I NDN PAPPA RAI1
9	reproductive system	MP:0005389	9.32	AFP APP DSCAM DYRK1A GABRB3 GTF2I

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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 489)

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

57-83-0

5994

Cytarabine

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

147-94-4

6253

Daunorubicin

Approved

Phase 4,Phase 3,Phase 2,Phase 1

20830-81-3

30323

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

50-02-2

5743

Idarubicin

Approved

Phase 4,Phase 3,Phase 2,Phase 1

58957-92-9

42890

Methotrexate

Approved

Phase 4,Phase 3,Phase 2,Phase 1

1959-05-2, 59-05-2

126941

Vincristine

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

2068-78-2, 57-22-7

5978

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

Dopamine

Approved

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

51-61-6, 62-31-7

681

Memantine

Approved, Investigational

Phase 4,Phase 2,Not Applicable

19982-08-2

4054

Cyclophosphamide

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1

50-18-0, 6055-19-2

2907

Hydrocortisone

Approved, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

50-23-7

5754

Testosterone

Approved, Investigational

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

58-22-0

6013

Dasatinib

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

302962-49-8

3062316

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

3911 657181

Dalteparin

Approved

Phase 4

9005-49-6

Enoxaparin

Approved

Phase 4

9005-49-6

772

Heparin

Approved, Investigational

Phase 4

9005-49-6

772 46507594

Riluzole

Approved, Investigational

Phase 4

1744-22-5

5070

Mitoxantrone

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

65271-80-9

4212

Prednisone

Approved, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

53-03-2

5865

Celiprolol

Approved, Investigational

Phase 4

56980-93-9

Methyltestosterone

Approved

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

58-18-4

6010

Testosterone enanthate

Approved

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

315-37-7

9416

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

Lovastatin

Approved, Investigational

Phase 4,Phase 2

75330-75-5

53232

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

leucovorin

Approved, Nutraceutical

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

58-05-9

143 6006

Deslorelin

Investigational, Vet_approved

Phase 4,Phase 3

57773-65-6

Lactitol

Investigational

Phase 4

585-86-4

3871

Butyric Acid

Experimental, Investigational

Phase 4,Phase 3,Phase 2

107-92-6

264

Fertility Agents

Phase 4,Phase 3,Not Applicable

Follicle Stimulating Hormone

Phase 4,Not Applicable

Hormone Antagonists

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

Hormones

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

Progestins

Phase 4,Phase 3

Anti-Bacterial Agents

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

Antibiotics, Antitubercular

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

asparaginase

Phase 4,Phase 3,Phase 2,Phase 1

BB 1101

Phase 4,Phase 3,Phase 2,Phase 1

Dexamethasone acetate

Phase 4,Phase 3,Phase 2,Phase 1

1177-87-3

Interventional clinical trials:

(show top 50) (show all 853)

#	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	Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia	Unknown status	NCT01990807	Phase 4	Idarubicin(IDA)
3	Compliance: Role Emerges for Success in Chronic Myelogenous Leukaemia (CML): Evaluation aND Optimisation	Unknown status	NCT01243489	Phase 4
4	Embryo Aneuploidies and Ovarian Stimulation	Completed	NCT00707525	Phase 4
5	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
6	Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies	Completed	NCT01608347	Phase 4	LMWH+Folic acid;Folic Acid
7	Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase	Completed	NCT01061177	Phase 4	Nilotinib
8	Growth Response in Girls With Turner Syndrome	Completed	NCT01734486	Phase 4	somatropin;somatropin
9	Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome	Completed	NCT01518062	Phase 4	somatropin;somatropin;somatropin;oestrogen
10	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
11	Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents	Completed	NCT01245374	Phase 4
12	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
13	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism	Completed	NCT00837616	Phase 4	17 B estradiol orally;17 B estradiol
14	Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome	Completed	NCT00266656	Phase 4	Humatrope
15	Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®	Completed	NCT00256126	Phase 4	Saizen;Saizen
16	Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome	Completed	NCT00134745	Phase 4	estradiol
17	Riluzole in Fragile X Syndrome	Completed	NCT00895752	Phase 4	Riluzole
18	Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?	Completed	NCT01298180	Phase 4	Growth hormone (Genotonorm® or Omnitrope®)
19	Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome	Completed	NCT01112683	Phase 4	Memantine;Placebo
20	Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response	Completed	NCT01043874	Phase 4	Nilotinib
21	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
22	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
23	Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type	Completed	NCT00190411	Phase 4	celiprolol;Control
24	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
25	Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome	Recruiting	NCT02642653	Phase 4	Lovastatin
26	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
27	Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.	Recruiting	NCT03015909	Phase 4	Somatropin
28	The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome	Recruiting	NCT00768820	Phase 4	methylphenidate, fluoxetin, risperidone
29	Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome	Recruiting	NCT03031626	Phase 4
30	Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment	Active, not recruiting	NCT02408445	Phase 4	testosterone cypionate 200mg/ml
31	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
32	Multicenter, PhaseⅣ, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib	Not yet recruiting	NCT02389920	Phase 4	Nilotinib
33	Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age	Suspended	NCT00646893	Phase 4
34	Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib	Terminated	NCT00461929	Phase 4
35	LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)	Terminated	NCT01198054	Phase 4	Lenalidomide
36	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
37	Impact of Parental Support on Pregnancy Outcomes (IPSO) Trial- Day 3 Preimplantation Genetic Screening (PGS) With Day 5 Fresh Transfer	Terminated	NCT01194531	Phase 4
38	Liraglutide Use in Prader-Willi Syndrome	Terminated	NCT01542242	Phase 4	Liraglutide
39	Study of Nilotinib in Ph+ CML-CP Patients With Low Imatinib Trough Plasma Concentrations	Terminated	NCT01131325	Phase 4	nilotinib
40	Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years	Unknown status	NCT00546988	Phase 3
41	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)
42	Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS	Unknown status	NCT02231008	Phase 2, Phase 3	tasimelteon
43	Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion	Unknown status	NCT00966810	Phase 2, Phase 3
44	Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome	Unknown status	NCT02804373	Phase 2, Phase 3	Oxytocin continuous;Placebo;Placebo continuous;Oxytocin
45	Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.	Unknown status	NCT02070211	Phase 2, Phase 3
46	Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome	Unknown status	NCT00603109	Phase 3	rimonabant;placebo
47	Growth Hormone Use in Adults With Prader-Willi Syndrome	Unknown status	NCT00444964	Phase 3	Nutropin AQ
48	Vitamin E in Aging Persons With Down Syndrome	Unknown status	NCT00056329	Phase 3	Vitamin E;multivitamin;Placebo
49	Lenalidomide Versus Placebo in Myelodysplastic Syndromes With a Deletion 5q[31] Abnormality	Completed	NCT00179621	Phase 3	Lenalidomide 5 mg;Lenalidomide 10 mg;Placebo
50	Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET)	Completed	NCT01259856	Phase 3	PEGASYS;Hydroxyurea;Aspirin

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

Myeloid, Testes, Brain, Bone, Thymus, T Cells, B Cells

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Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

#	Title	Authors	Year
1	Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism? ( 24078047 )	de Rezende Pinto W.B....Barsottini O.G.	2013
2	The ultrasound markers of chromosomal disease: a retrospective study. ( 8319061 )	Twining P....Zuccollo J.	1993
3	Quantitative histology of human fetal testes in chromosomal disease. ( 2937030 )	Coerdt W....Gropp A.	1985
4	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
5	Tentative estimate of the risk of chromosomal disease due to radiation-induced translocations in man. ( 7266558 )	Dutrillaux B....Prieur M.	1981
6	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	23.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	1722580 11601289 11360279 (more) 1705804
2	BACE1	Beta-Secretase 1	Protein Coding	19.94	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	19.15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	18.84	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	RCAN1	Regulator Of Calcineurin 1	Protein Coding	18.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	UROD	Uroporphyrinogen Decarboxylase	Protein Coding	18.44	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GATA1	GATA Binding Protein 1	Protein Coding	17.95	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	MKRN3	Makorin Ring Finger Protein 3	Protein Coding	17.72	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	NDN	Necdin, MAGE Family Member	Protein Coding	17.7	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	GTF2I	General Transcription Factor IIi	Protein Coding	17.66	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	APP	Amyloid Beta Precursor Protein	Protein Coding	17.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit	Protein Coding	17.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	RAI1	Retinoic Acid Induced 1	Protein Coding	17.5	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	MAGEL2	MAGE Family Member L2	Protein Coding	17.44	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	DSCAM	DS Cell Adhesion Molecule	Protein Coding	17.41	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	GTF2IRD1	GTF2I Repeat Domain Containing 1	Protein Coding	17.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
17	SNRPN	Small Nuclear Ribonucleoprotein Polypeptide N	Protein Coding	17.37	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
18	PAPPA	Pappalysin 1	Protein Coding	9.18	DISEASES inferred ¹⁵
19	PTER	Phosphotriesterase Related	Protein Coding	7.56	DISEASES inferred ¹⁵
20	CORO7	Coronin 7	Protein Coding	7.5	DISEASES inferred ¹⁵ ¹⁵
21	TBX1	T-Box 1	Protein Coding	7.34	DISEASES inferred ¹⁵
22	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	7.21	DISEASES inferred ¹⁵
23	IPW	Imprinted In Prader-Willi Syndrome	RNA Gene	7.16	DISEASES inferred ¹⁵
24	ETS2	ETS Proto-Oncogene 2, Transcription Factor	Protein Coding	7.15	DISEASES inferred ¹⁵
25	SNORD116@	Small Nucleolar RNA, C/D Box 116 Cluster	Gene Cluster	7.1	DISEASES inferred ¹⁵
26	TTC3	Tetratricopeptide Repeat Domain 3	Protein Coding	7.09	DISEASES inferred ¹⁵
27	DIO3	Iodothyronine Deiodinase 3	Protein Coding	7.03	DISEASES inferred ¹⁵ ¹⁵
28	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	7.02	DISEASES inferred ¹⁵
29	CRELD1	Cysteine Rich With EGF Like Domains 1	Protein Coding	6.91	DISEASES inferred ¹⁵
30	SNURF	SNRPN Upstream Reading Frame	Protein Coding	6.85	DISEASES inferred ¹⁵
31	SIM2	SIM BHLH Transcription Factor 2	Protein Coding	6.84	DISEASES inferred ¹⁵
32	KCNJ6	Potassium Voltage-Gated Channel Subfamily J Member 6	Protein Coding	6.77	DISEASES inferred ¹⁵
33	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	6.77	DISEASES inferred ¹⁵
34	SNORD115@	Small Nucleolar RNA, C/D Box 115 Cluster	Gene Cluster	6.75	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	rhythmic process	GO:0048511	9.33	MAGEL2 RAI1 UBE3A
2	cellular protein metabolic process	GO:0044267	9.26	AFP APP BACE1 PAPPA
3	transition between slow and fast fiber	GO:0014886	8.62	GTF2I GTF2IRD1

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

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³⁰ HGMD

³¹ HMDB

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

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⁴² MedGen

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⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁶¹ PharmGKB

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⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia