Summaries for Genetic Disease

Sources:
6Disease Ontology, 23MedlinePlus, 44Wikipedia, 22MalaCards
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MedlinePlus: A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. many diseases have a genetic aspect. some, including many cancers, are caused by a mutation in a gene or group of genes in a person's cells. these mutations can occur randomly or because of an environmental exposure such as cigarette smoke. other genetic disorders are inherited. a mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. still other genetic disorders are due to problems with the number of packages of genes called chromosomes. in down syndrome, for example, there is an extra copy of chromosome 21. if you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected. nih: national human genome research institute23

MalaCards: Genetic Disease, also known as genetic disorder, is related to phenylketonuria and 21-hydroxylase deficiency. An important gene associated with Genetic Disease is AANAT (aralkylamine N-acetyltransferase), and among its related pathways are Immune response Alternative complement pathway and Immune response_Alternative complement pathway. The compounds estrogen and heparin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and brain, and related mouse phenotypes are reproductive system and liver/biliary system.

Disease Ontology: A disease that has material basis in genetic variations in the human genome.6

Wikipedia: A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition...44 more...

Aliases & Descriptions for Genetic Disease

Sources:
6Disease Ontology, 8DISEASES, 32Novoseek , 23MedlinePlus, 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH
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Aliases & Descriptions:

genetic disease 6
genetic disorder 6 8 32
hereditary diseases 43
genetic disorders 23

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NCIt27 C3101

Related Diseases for Genetic Disease

Sources:
13GeneCards, 14GeneDecks
See all sources

Diseases related to genetic disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 684)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria27.8ACADM, G6PD, HBB, TTR
221-hydroxylase deficiency27.5CFB, INS, GNRH1, CYP21A2, POMC
3monogenic disease27.4GPRC6A, HBA1, HBA2, HBB
4osteopetrosis27.2LRP5, CLCN7, CA2, TNFRSF11A, TNFSF11, PLEKHM1
5mass syndrome27.2LRP5, FBN1, SOST
6late-onset congenital adrenal hyperplasia27.1HSD3BP4, CYP21A2, POMC
7tuberous sclerosis26.9VHL, CDKN1B, INS, PTEN, PKD1, NF1
8neurofibromatosis26.8VHL, MLH1, NF1, KRT14, TSC1, TSC2
9premature ovarian failure26.7FMR1, GNRH1, HSD3BP4, TPO, CYP11A1, GALT
10pendred syndrome26.6PAX8, TPO, TG, SLC26A4, SLC26A2
11peutz-jeghers syndrome26.1VHL, APC, PTEN, CYP19A1, TSC1, TSC2
12hemophilia26.1MTHFR, FBN1, F9, TNFSF11, KRT5, ABCD1
13gaucher's disease25.8VDR, MTHFR, ARSH, ARSA, F9, SMPD1
14polycystic ovary syndrome25.8INS, INSR, GNRH1, CYP11A1, CYP19A1, CYP21A2
15adrenal hyperplasia25.6CFB, INS, GNRH1, HSD3BP4, CYP11A1, CYP19A1
16polycystic kidney disease25.5VHL, CFTR, INS, INSR, FBN1, GNB3
17stickler syndrome25.4CFB, CFH, INS, APC, RHO, TSHR
18muscular dystrophy25.2CD59, FKTN, INS, INSR, TUBA3C, TMEM43
19cataract25.2RECQL4, MVK, MTHFR, INS, FBN1, ALDH9A1
20paralysis25.1INS, CA2, TPO, SMN1, TSHR, RYR1
21diarrhea25.1MVK, CFB, CFH, CFHR5, CFI, CFTR
22severe combined immunodeficiency24.6VHL, MLH1, FMR1, INS, TPO, TNFSF11
23klinefelter's syndrome24.5MTHFR, XIST, CFTR, INS, GNRH1, CYP19A1
24thalassemia24.0VDR, BLM, MTHFR, CFB, INS, GNRH1
25polyposis24.0VHL, VDR, CFTR, CDKN1B, MLH1, FEN1
26ataxia23.7BLM, LEPR, MVK, CDSN, FMR1, ARSA
27dementia23.7MTHFR, CFI, CDKN1B, FMR1, ARSA, INS
28photosensitive trichothiodystrophy23.6LEPR, MTHFR, CFI, CFTR, INS, INSR
29turner syndrome23.4VDR, MTHFR, FMR1, INS, GNRH1, TPO
30cystic fibrosis23.4SFTPB, VDR, CFTR, ARSH, INS, MASP2
31psoriasis22.6VHL, VDR, MTHFR, CFB, CDSN, CD59
32noonan syndrome21.1GCH1, CD46, FMR1, FKTN, INS, FBN1
33fibrosis20.3SFTPB, VHL, VDR, LEPR, MTHFR, CFTR
34retinitis19.1LRP5, PCDH15, VHL, VDR, RAB6A, MVK
35hepatocellular carcinoma18.8VHL, VDR, LEPR, MTHFR, CDSN, CDKN1B
36obesity18.7LRP5, VDR, LIPE, LEPR, UCP1, MTHFR
37arthritis18.5LRP5, VDR, MVK, MTHFR, CFB, CFH
38cholesterol17.5LRP5, SFTPB, VDR, RAB6A, LIPE, LEPR
39thyroiditis15.9SFTPB, VHL, VDR, LMX1B, PAX8, LEPR
40lysosomal storage disease13.9CLCN7, ARSH, ARSA, SMPD1, OSTM1, GBA
41heinz body anemia13.8HBA1, HBA2, HBB
42membranoproliferative glomerulonephritis type 213.8CFB, CFH, CFHR5
43optic atrophy13.8CLCN7, ARSA, FKTN, TCIRG1, OSTM1, SOST
44rothmund-thomson syndrome13.8RECQL4, BLM, HELLS, WRN
45hereditary spherocytosis13.7G6PD, HBA2, HBB
46ivemark syndrome13.7HBA1, HBA2, HBB
47alpha thalassemia13.6G6PD, HBA1, HBA2, HBB, HELLS
48hydrops fetalis13.6G6PD, HBA1, HBA2, HBB, GBA
49atypical hemolytic-uremic syndrome13.6CFB, CFH, CFI, CD46, THBD, C3
50cystic kidney13.6VHL, CFTR, PKD1, TSC1, TSC2

Graphical network of the top 20 diseases related to genetic disease:



Graphical network of diseases related to genetic disease

Clinical Features for Genetic Disease

Drugs & Therapeutics for Genetic Disease

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Genetic Disease

Anatomical Context for Genetic Disease

Sources:
22MalaCards
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MalaCards organs/tissues related to genetic disease:

22
Bone marrow, Whole blood, Brain, Skeletal muscle, Thyroid, B cells

Phenotypes for genes affiliated with Genetic Disease

Sources:
25MGI
See all sources

MGI Mouse Phenotypes related to genetic disease:

25 (show all 29)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1reproductive system phenotypeMP:0005389INFPAX8, LEPR, MTM1, XIST, CDKN1B, CD59
2liver/biliary system phenotypeMP:0005370INFPKD1, NF1, ACADM, HBB, TSC2, NPRL3
3skeleton phenotypeMP:0005390INFMTM1, , , SOST, SLC26A4, SLC26A2
4immune system phenotypeMP:0005387INFSMPD1, GBA, PKD1, NF1, KRT14, NDUFS4
5behavior/neurological phenotypeMP:0005386INFPCDH15, VDR, LMX1B, LIPE, CLCN7, PANX1
6nervous system phenotypeMP:0003631INFTYMP, HBB, G6PD, ABCD1, NDUFS4, RHO
7pigmentation phenotypeMP:0001186INFNF1, RHO, KRT14, HELLS, , POMC
8limbs/digits/tail phenotypeMP:0005371INFPKD1, NF1, KRT5, HELLS, , SOST
9normal phenotypeMP:0002873INFNDUFS4, NFKB1, NF1, PKD1, , SMN1
10mortality/agingMP:0010768INFCLCN7, PAX8, LEPR, MTHFR, MTM1, XIST
11cellular phenotypeMP:0005384INFCLCN7, GLI3, , , PTEN, CYP11A1
12digestive/alimentary phenotypeMP:0005381INFKRT14, KRT5, NFKB1, PKD1, SMN1, PTEN
13respiratory system phenotypeMP:00053888.5SMPD1, PKD1, NF1, NDUFS4, RYR1, ADA
14hearing/vestibular/ear phenotypeMP:00053777.2GLI3, CYP19A1, SMN1, NF1, NFKB1, TSHR
15cardiovascular system phenotypeMP:0005385INF, VHL, VDR, LMX1B, LIPE, BLM
16adipose tissue phenotypeMP:0005375INFPTEN, CYP19A1, HELLS, POMC, RYR1, WRN
17endocrine/exocrine gland phenotypeMP:0005379INF, PAX8, CDSN, CDKN1B, , GPRC6A
18no phenotypic analysisMP:0003012INFPTPN3, SMN1, RHO, , STK11, POMC
19embryogenesis phenotypeMP:0005380INFSMN1, NF1, RHBDF1, G6PD, HELLS, STK11
20muscle phenotypeMP:0005369INFACADM, NDUFS4, PDLIM5, NFKB1, NF1, PKD1
21growth/size phenotypeMP:0005378INF, FKTN, INS, FEN1, FBN1, APC
22renal/urinary system phenotypeMP:0005367INFINSR, FBN1, APC, GPRC6A, GNRH1, GLI3
23homeostasis/metabolism phenotypeMP:0005376INFSLC26A4, RYR1, RYR2, NKX2-1, WRN,
24vision/eye phenotypeMP:0005391INFKRT14, RHO, NF1, PTEN, GLI3, NDUFS4
25integument phenotypeMP:0010771INFVHL, LMX1B, LIPE, BLM, CLCN7, LEPR
26tumorigenesisMP:0002006INFNF1, KRT14, TSC1, TSC2, STK11, POMC
27hematopoietic system phenotypeMP:0005397INFXIST, ARSA, FEN1, FBN1, APC,
28other phenotypeMP:0005395INF, RYR1, HBB, NF1, PKD1, GLI3
29craniofacial phenotypeMP:0005382INFNF1, KRT5, , STK11, , NPRL3

Publications for genes affiliated with Genetic Disease

Sources:
35PubMed
See all sources

Articles related to genetic disease:

(show top 50)    (show all 70)
idTitleAuthorsYearAffiliating Genes
1Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador : lessons for health policy in genetic disease. (20010364)Hodgkinson K.... Pullman D.2009TMEM43
2Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment. (19297407)Inoki K.... Guan K.L.2009TSC1, TSC2
3Genetic diseases of the retinal pigment epithelium (19343351)Preising M.N.... Lorenz B.2009RHO
4PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history. (19089844)Alarcon F.... BonaA^ti-PelliAc C.2009TTR
5The nuclear envelope, human genetic diseases and ageing. (17703602)Maraldi N.M.... Guidotti L.2007SUN2
6Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases. (17525274)Butler A.... Schuchman E.H.2007SMPD1
7RNase MRP RNA and human genetic diseases. (17189938)Martin A.N.... Li Y.2007RMRP
8Genetic diseases associated with heterotrimeric G pro teins. (16600389)Weinstein L.S.... Liu J.2006GNB3, GNAT2, GNAT1
9NF-kappaB-related genetic diseases. (16397577)Courtois G.... Smahi A.2006NFKB1
10A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (16728641)De Gobbi M.... Higgs D.R.2006HBA1, HBA2, POLR3K
11Chemical genetics and orphan genetic diseases. (16242649)Lunn M.R.... Stockwell B.R.2005SMN1
12The thyroid as a model for molecular mechanisms in genetic diseases (16042141)Rivolta C.M.... Targovnik H.M.2005TPO, TSHR, PAX8
13Roles of FGF signaling in skeletal development and human genetic diseases. (15769677)Chen L.... Deng C.X.2005FGF22
14A genomic perspective on protein tyrosine phosphatase s: gene structure, pseudogenes, and genetic disease linkage. (14718383)Andersen J.N.... ller N.P.2004LOC100128076
15Improving the understanding of human genetic diseases through predictions of protein structures and protein-protein interaction sites. (15032602)Zhou H.X.2004ABCD1
16Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex (15269663)Lunardi J.... Monnier N.2004CACNA1S
17Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. (15232309)Musso C.... Gorden P.2004INSR, INS
18Ryanodine receptor defects in muscle genetic diseases. (15336972)Brini M.2004RYR1, RYR2
19Respiratory complex I in brain development and genetic disease. (15038602)Papa S.... Santorelli F.M.2004NDUFS4
20A major step on the road to understanding a unique posttranslational modification and its role in a genetic disease. (12757700)Baenziger J.U.2003ARSH
21Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal. (14671168)Wergedal J.E.... Van Hul W.2003SOST
22Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin. (14618257)Tronchere H.... Payrastre B.2003MTM1
23A rare genetic disease: multiple sulfatase deficiency (14648473)Maire I.2003ARSH
24Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. (12730694)Tufarelli C.... Higgs D.R.2003HBA2
25Human FEN-1 can process the 5'-flap DNA of CTG/CAG triplet repeat derived from human genetic diseases by length and sequence dependent manner. (12515398)Lee S.... Park M.S.2002FEN1
26Augmenting vitamin D to combat genetic disease. (12498876)Peterson B.R.2002VDR
27X-chromosome inactivation and human genetic disease. (12572852)Lyon M.F.2002XIST
28Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. (11943462)O'Brien T.W.2002MRPS7, MRPL23, MRPL39
29Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. (12361953)Jang S.B.... Oh B.H.2002TRAPPC2
30Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. (11978876)Morello R.... Lee B.2002LMX1B, PDLIM5
31Genetic diseases of muscle. (12432825)Wagner K.R.2002FKTN
32The myotubularin family: from genetic disease to phosphoinositide metabolism. (11275328)Laporte J.... Mandel J.L.2001MTM1, PTPN3, MTMR1
33A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. (10899995)Rampazzo C.... Bianchi V.2000TYMP, NT5C, NT5M
34DNA helicases, genomic instability, and human genetic disease. (11701636)van Brabant A.J.... Ellis N.A.2000BLM, WRN, RECQL4
35Recombinant proteins for genetic disease. (10450855)Russell C.S.... Clarke L.A.1999ADA, GBA
36Paroxysmal nocturnal hemoglobinuria: An acquired genetic disease. (10539884)Nishimura J.... Kinoshita T.1999CD55, CD59
37Genetic diseases and gene knockouts reveal diverse co nnexin functions. (10099690)White T.W.... Paul D.L.1999PANX1
38A family of mammalian anion transporters and their involvement in human genetic diseases. (10469841)Everett L.A.... Green E.D.1999SLC26A2
39Genetic diseases of erythrocyte membrane permeabilit y (10432360)Delaunay J.1999STOM
40Gene therapy of genetic diseases and cancer. (10587981)McIvor R.S.1999ADA
41Genetic diseases of the seminal ducts. (9755815)Meschede D.... Horst J.1998CFTR
42Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. (9533876)Burwinkel B.... Kilimann M.W.1998PHKB
43Genetic diseases with rheumatic manifestations in children. (9746866)Prahalad S.... Colbert R.A.1998FBN1
44Human surfactant protein B: structure, function, regulation, and genetic disease. (7480161)Whitsett J.A.... Horowitz A.D.1995SFTPB
45Estimation of the incidence of a rare genetic disease through a two-tier mutation survey. (8503445)Chakraborty R.... Raskin S.1993ACADM
46Clinical application of intrauterine bone marrow transplantation for treatment of genetic diseases--feasibility studies. (1504665)Slavin S.... Lewin A.1992ARSA
47Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. (1721080)Ishida-Yamamoto A.... Eady R.A.1991KRT5, KRT14
48Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes. (1671714)Kuppuswamy M.N.... Bajaj S.P.1991F9
49Detection of point mutations associated with genetic diseases by an exon scanning technique. (2276738)Kaufman D.L.... Tobin A.J.1990HBB
50Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease. (2561974)Buckle V.J.... Darlison M.G.1989GABRA3

Expression for genes affiliated with Genetic Disease

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Genetic Disease

Pathways for genes affiliated with Genetic Disease

Sources:
10EMD Millipore, 41Thomson Reuters, 38Reactome, 36QIAGEN, 3Cell Signaling Technology, 20KEGG
See all sources

Compounds for genes affiliated with Genetic Disease

Sources:
32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB
See all sources

Compounds related to genetic disease according to GeneDecks:

(show top 50)    (show all 175)
idCompoundScoreTop Affiliating Genes
1estrogen32 INF, GCH1, VHL, VDR, LIPE, LEPR
2heparin32 9 18 9 INFCFH, CD55, ARSH, FBN1, F9, GNRH1
3cholesterol32 9 18 9 INF, SFTPB, RAB6A, LIPE, LEPR, MVK
4tyrosine32 INFSFTPB, GCH1, VHL, LMX1B, RAB6A, LEPR
5atp32 INFSFTPB, RAB6A, BLM, PANX1, MVK, UCP1
6alanine32 INFVDR, LEPR, MVK, UCP1, MTHFR, CFH
7cysteine32 INFSFTPB, VDR, RAB6A, LEPR, UCP1, MTHFR
8serine32 INFSFTPB, GCH1, VHL, VDR, RAB6A, LIPE
9cyclic amp32 18 INFSFTPB, LIPE, UCP1, CFTR, CDKN1B,
10calcium32 9 18 9 INF, SFTPB, PCDH15, GCH1, VHL, VDR
11leucine32 INFSFTPB, CDKN1B, CD55, ARSA, F9,
12valine32 INF, CLCN7, MTHFR, CFTR, CD55, ARSA
13phospholipid32 INFSFTPB, LIPE, UCP1, CD59, CD55, FEN1
14nitric oxide32 9 18 9 INFSFTPB, GCH1, VHL, LIPE, UCP1, CDKN1B
15oxygen32 18 INFSFTPB, GCH1, LIPE, LEPR, UCP1, CDKN1B
16arginine32 INFSFTPB, GCH1, VDR, LEPR, ,
17paraffin32 INFSFTPB, CFTR, CDKN1B, , , APC
18methionine32 INFGCH1, CLCN7, MTHFR, , CDKN1B,
19aspartate32 INFVDR, LIPE, UCP1, CFTR, CD55, ARSA
20thyroxine32 18 INFVDR, PAX8, LEPR, UCP1, , INS
21retinoic acid32 42 18 INFSFTPB, VDR, UCP1, MTHFR, CFH,
22progesterone32 42 9 18 9 INFSFTPB, LEPR, UCP1, CDKN1B, CD55,
23iodide32 18 10.8PAX8, CFTR, FOXE1, TPO, TSHR, TG
24threonine32 9.8SFTPB, PAX8, CDKN1B, GPRC6A, F9, RHO
25ribonucleic acid32 8.8SFTPB, LIPE, PAX8, LEPR, UCP1, GNRH1
26dehydroepiandrosterone sulfate32 8.8ARSH, INS, GNRH1, HSD17B13, HSD3BP4, CYP11A1
27h2o232 8.5RECQL4, GCH1, LEPR, UCP1, CFTR, INSR
28guanine32 9 18 9 11.1GCH1, VDR, MTHFR, APC, F9, GNB3
29dopamine32 9 18 9 10.8GCH1, LMX1B, LEPR, MTHFR, CFTR, ARSH
30lipid32 INF, SFTPB, RAB6A, LIPE, LEPR, MVK
31glutamine32 INFVDR, RAB6A, LEPR, CFTR, CDKN1B, ARSA
32adenylate32 INFVDR, LIPE, CFTR, APC, GPRC6A, ALDH9A1
33forskolin32 42 9 9 INFLIPE, PAX8, UCP1, CFTR, CDKN1B,
34glutamate32 INFVDR, LEPR, UCP1, MTHFR, CFTR, CDKN1B
35cycloheximide32 INFSFTPB, VDR, CDKN1B, CD55, , INSR
36norepinephrine32 9 18 9 INFGCH1, LIPE, UCP1, CFTR, INS, APC
37polyacrylamide32 INFSFTPB, LIPE, LEPR, , , CD55
38hydrogen32 18 INFSFTPB, UCP1, ARSH, ARSA, APC, GPRC6A
39histidine32 INFVHL, MVK, CFH, ARSH, , TPO
40fatty acid32 INFSFTPB, LIPE, LEPR, UCP1, CDKN1B, CD59
41steroid32 INFVDR, LMX1B, LIPE, LEPR, , ARSH
42dhea32 INFARSH, ARSA, INS, HSD17B13, HSD3BP4,
43epinephrine32 9 18 9 INFGCH1, LIPE, CFTR, INS, INSR, APC
44glucose32 INFGCH1, VHL, , APC, TYMP, TSC1
45oligonucleotide32 INFVHL, LIPE, PAX8, CDKN1B, CD55,
46dexamethasone32 42 34 9 9 INFSFTPB, VDR, LIPE, LEPR, CFH, CFTR
47testosterone32 9 18 9 INFVDR, MTHFR, , CFTR, CDKN1B,
48proline32 INFVHL, MVK, CD55, , , ARSA
49chloramphenicol32 9 9 INFSFTPB, VDR, CD55, INSR, F9, ALDH9A1
50creatinine32 INFVDR, MVK, MTHFR, , CD55,

GO Terms for genes affiliated with Genetic Disease

Sources:
12Gene Ontology
See all sources

Cellular components related to genetic disease according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:005829INFGALT, NFKB1, PDLIM5, KRT5, KRT14, ABCD1
2photoreceptor outer segment membraneGO:04262210.4GNAT1, GNAT2, RHO
3hemoglobin complexGO:00583310.2HBQ1, HBM, HBB, HBA2
4membraneGO:016020INFGALK1, ADA, SLC26A2, STK11, TSC2, TSC1
5extracellular spaceGO:005615INF, SMPD1, TTR, , SOST, POMC

Biological processes related to genetic disease according to GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of complement activationGO:030449INF, , CD55, , CFH,
2thyroid gland developmentGO:03087810.4NKX2-1, TG, FOXE1, PAX8
3protein heterooligomerizationGO:05129110.3STK11, TSC1, HBB, HBA2, GCH1
4phospholipid metabolic processGO:00664410.0GBA, NKX2-1, SMPD1, PTEN, ARSA, ARSH
5oxygen transportGO:0156719.9HBQ1, HBB, HBA2
6negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:0607709.9CDKN1B, APC, STK11
7calcium ion transportGO:0068169.4CACNA1S, RYR2, RYR1, CDH23, PANX1, VDR
8negative regulation of cell proliferationGO:0082858.9STK11, TSC2, TSC1, PTEN, GLI3, GNRH1
9complement activation, classical pathwayGO:006958INF, MASP2, , CD55,
10small molecule metabolic processGO:044281INFGALT, NT5M, SMPD1, PHKB, NDUFS4, ABCD1
11kidney developmentGO:001822INFTSC1, PKD1, , ALDH9A1, APC, PAX8
12insulin receptor signaling pathwayGO:008286INFSTK11, , TSC2, TSC1, FGF22, INSR
13complement activation, alternative pathwayGO:006957INF, CFH, ,
14regulation of blood pressureGO:008217INF, GCH1, GNB3, HBB, POMC

Molecular functions related to genetic disease according to GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:005515INFABCD1, KRT14, KRT5, RHO, NFKB1, NF1
2oxygen transporter activityGO:00534410.4HBA2, HBB, HBM, HBQ1
3ATP-dependent 3-5 DNA helicase activityGO:04314010.3WRN, BLM, RECQL4
4phosphatidylinositol-3-phosphatase activityGO:00443810.0PTEN, MTM1, MTMR1
5bubble DNA bindingGO:00040510.0RECQL4, BLM, WRN
6oxygen bindingGO:0198259.9HBQ1, HBM, HBB, HBA2, CYP19A1
7protein tyrosine phosphatase activityGO:0047259.8PTEN, MTM1, MTMR1, MTMR7, MTMR8, PTPN3
8heme bindingGO:0200379.5TPO, HBQ1, HBM, HBB, HBA2, CYP21A2

Sources for Genetic Disease

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS