Menkes Kinky Hair Syndrome

Download as a tab-separated text file.

Genes associated with Menkes Kinky Hair Syndrome:
  • TGOLN2
    • Genotator Score: 0.0
    • Description: trans-golgi network protein 2
    • Chromosome: 2, Band: 2p11.2
    • Gene Synonyms: MGC14722, TGN38, TGN46, TGN48, TGN51, TTGN2
    • Other Descriptions: "trans-Golgi network protein (46, 48, 51kD isoforms)"
    • Cross-references: NCBI: 10618, Ensembl: ENSG00000152291
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
  • CYP3A4
    • Genotator Score: 0.0
    • Description: "cytochrome P450, family 3, subfamily A, polypeptide 4"
    • Chromosome: 7, Band: 7q21.1
    • Gene Synonyms: CP33, CP34, CYP3A, CYP3A3, HLP, MGC126680, NF-25, P450C3, P450PCN1
    • Other Descriptions: "P450-III, steroid inducible, cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 3, cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4, glucocorticoid-inducible P450, nifedipine oxidase"
    • Cross-references: NCBI: 1576, Ensembl: ENSG00000160868
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • DEC
    • Genotator Score: 0.0
    • Description:
    • Chromosome: 10, Band: 10q26
    • Gene Synonyms:
    • Other Descriptions:
    • Cross-references: NCBI: 8037, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • CYP3A7
    • Genotator Score: 0.0
    • Description: "cytochrome P450, family 3, subfamily A, polypeptide 7"
    • Chromosome: 7, Band: 7q21-q22.1
    • Gene Synonyms: CP37, P450-HFLA
    • Other Descriptions: "aryl hydrocarbon hydroxylase, cytochrome P450, subfamily IIIA, polypeptide 7, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
    • Cross-references: NCBI: 1551, Ensembl: ENSG00000160870
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • CYP2C19
    • Genotator Score: 0.0
    • Description: "cytochrome P450, family 2, subfamily C, polypeptide 19"
    • Chromosome: 10, Band: 10q24.1-q24.3
    • Gene Synonyms: CPCJ, CYP2C, P450C2C, P450IIC19
    • Other Descriptions: "OTTHUMP00000020132, OTTHUMP00000059588, S-mephenytoin 4-hydroxylase, cytochrome P-450 II C, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19, flavoprotein-linked monooxygenase, mephenytoin 4'-hydroxylase, microsomal monooxygenase, xenobiotic monooxygenase"
    • Cross-references: NCBI: 1557, Ensembl: ENSG00000165841
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • CYP2B6
    • Genotator Score: 0.0
    • Description: "cytochrome P450, family 2, subfamily B, polypeptide 6"
    • Chromosome: 19, Band: 19q13.2
    • Gene Synonyms: CPB6, CYP2B, CYPIIB6, IIB1, P450
    • Other Descriptions: "cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"
    • Cross-references: NCBI: 1555, Ensembl: ENSG00000197408
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • ATOX1
    • Genotator Score: 0.0
    • Description: ATX1 antioxidant protein 1 homolog (yeast)
    • Chromosome: 5, Band: 5q32
    • Gene Synonyms: ATX1, HAH1, MGC138453, MGC138455
    • Other Descriptions: antioxidant protein 1, copper transport protein, metal transport protein
    • Cross-references: NCBI: 475, Ensembl: ENSG00000177556
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
  • BBS9
    • Genotator Score: 0.0
    • Description: Bardet-Biedl syndrome 9
    • Chromosome: 7, Band: 7p14
    • Gene Synonyms: B1, C18, D1, MGC118917, PTHB1
    • Other Descriptions: OTTHUMP00000158833, PTH-responsive osteosarcoma B1 protein, parathyroid hormone-responsive B1
    • Cross-references: NCBI: 27241, Ensembl: ENSG00000122507
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • CYP2D6
    • Genotator Score: 0.0
    • Description: "cytochrome P450, family 2, subfamily D, polypeptide 6"
    • Chromosome: 22, Band: 22q13.1
    • Gene Synonyms: CPD6, CYP2D, CYP2D@, CYP2DL1, MGC120389, MGC120390, P450-DB1, P450C2D, P450DB1
    • Other Descriptions: "cytochrome P450 2D6, cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6, cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1, debrisoquine 4-hydroxylase, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
    • Cross-references: NCBI: 1565, Ensembl: ENSG00000100197
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • ELN
    • Genotator Score: 0.0
    • Description: elastin
    • Chromosome: 7, Band: 7q11.23
    • Gene Synonyms: FLJ38671, FLJ43523, SVAS, WBS, WS
    • Other Descriptions: OTTHUMP00000196667, tropoelastin
    • Cross-references: NCBI: 2006, Ensembl: ENSG00000049540
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: GeneCards, PharmGKB
  • PGAM1
    • Genotator Score: 0.0
    • Description: phosphoglycerate mutase 1 (brain)
    • Chromosome: 10, Band: 10q25.3
    • Gene Synonyms: PGAM-B, PGAMA
    • Other Descriptions: "BPG-dependent PGAM 1, OTTHUMP00000020190, OTTHUMP00000059414, bisphosphoglycerate mutase 1, phosphoglycerate mutase A, nonmuscle form"
    • Cross-references: NCBI: 5223, Ensembl: ENSG00000171314
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
  • MKNK1
    • Genotator Score: 0.0
    • Description: MAP kinase interacting serine/threonine kinase 1
    • Chromosome: 1, Band: 1p33
    • Gene Synonyms: MNK1
    • Other Descriptions: MAP kinase interacting kinase 1, MAP kinase-interacting serine/threonine kinase 1, OTTHUMP00000009674
    • Cross-references: NCBI: 8569, Ensembl: ENSG00000079277
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
  • PART1
    • Genotator Score: 0.0
    • Description:
    • Chromosome: 5, Band: 5q12.1
    • Gene Synonyms: DKFZp586D0823
    • Other Descriptions:
    • Cross-references: NCBI: 25859, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
  • SCAR2
    • Genotator Score: 0.0
    • Description: "spinocerebellar ataxia, autosomal recessive 2"
    • Chromosome: 9, Band: 9q34-qter
    • Gene Synonyms: CLA1, CPD3
    • Other Descriptions:
    • Cross-references: NCBI: 1165, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • KMS
    • Genotator Score: 0.0
    • Description: Kabuki mental retardation syndrome
    • Chromosome: , Band:
    • Gene Synonyms:
    • Other Descriptions:
    • Cross-references: NCBI: 3826, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • LOX
    • Genotator Score: 0.0
    • Description: lysyl oxidase
    • Chromosome: 5, Band: 5q23.2
    • Gene Synonyms: MGC105112
    • Other Descriptions: protein-lysine 6-oxidase
    • Cross-references: NCBI: 4015, Ensembl: ENSG00000113083
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: GeneCards
  • MT1B
    • Genotator Score: 0.0
    • Description: metallothionein 1B
    • Chromosome: 16, Band: 16q13
    • Gene Synonyms: MT1, MT1Q, MTP
    • Other Descriptions: metallothionein 1B (functional), metallothionein 1Q
    • Cross-references: NCBI: 4490, Ensembl: ENSG00000169688
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
  • SLC31A1
    • Genotator Score: 0.0
    • Description: "solute carrier family 31 (copper transporters), member 1"
    • Chromosome: 9, Band: 9q31-q32
    • Gene Synonyms: COPT1, CTR1, MGC75487, hCTR1
    • Other Descriptions: OTTHUMP00000021950, copper transport 1 homolog, copper transporter 1
    • Cross-references: NCBI: 1317, Ensembl: ENSG00000136868
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
  • SCN5A
    • Genotator Score: 0.0
    • Description: "sodium channel, voltage-gated, type V, alpha subunit"
    • Chromosome: 3, Band: 3p21
    • Gene Synonyms: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1
    • Other Descriptions: cardiac sodium channel alpha subunit, cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit, sodium channel protein type V alpha subunit, voltage-gated sodium channel type V alpha
    • Cross-references: NCBI: 6331, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • ATRIP
    • Genotator Score: 0.0
    • Description: ATR interacting protein
    • Chromosome: 3, Band: 3p21.31
    • Gene Synonyms: DKFZp762J2115, FLJ12343, MGC20625, MGC21482, MGC26740
    • Other Descriptions:
    • Cross-references: NCBI: 84126, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • KFM
    • Genotator Score: 0.0
    • Description: Klippel-Feil malformation
    • Chromosome: 5, Band: 5q11.2
    • Gene Synonyms: KFS
    • Other Descriptions:
    • Cross-references: NCBI: 3793, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • FRAXE
    • Genotator Score: 0.0
    • Description: "fragile site, folic acid type, rare, fra(X)(q28) E"
    • Chromosome: X, Band: Xq28
    • Gene Synonyms: FMR2
    • Other Descriptions:
    • Cross-references: NCBI: 2481, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • CYP2C9
    • Genotator Score: 0.0
    • Description: "cytochrome P450, family 2, subfamily C, polypeptide 9"
    • Chromosome: 10, Band: 10q24
    • Gene Synonyms: CPC9, CYP2C, CYP2C10, MGC149605, MGC88320, P450IIC9
    • Other Descriptions: "OTTHUMP00000020135, cytochrome P-450 S-mephenytoin 4-hydroxylase, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 10, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9, cytochrome p4502C9, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
    • Cross-references: NCBI: 1559, Ensembl: ENSG00000138109
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • MEHMO
    • Genotator Score: 0.0
    • Description: "mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome"
    • Chromosome: X, Band: Xp22.13-p21.1
    • Gene Synonyms:
    • Other Descriptions:
    • Cross-references: NCBI: 8422, Ensembl:
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • NSUN5B
    • Genotator Score: 0.0
    • Description: "NOL1/NOP2/Sun domain family, member 5B"
    • Chromosome: 7, Band: 7q11.23
    • Gene Synonyms: MGC129801, WBSCR20B
    • Other Descriptions: Williams Beuren syndrome chromosome region 20B, Williams-Beuren Syndrome critical region protein 20 copy B
    • Cross-references: NCBI: 155400, Ensembl: ENSG00000183519
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • CYP1A2
    • Genotator Score: 0.0
    • Description: "cytochrome P450, family 1, subfamily A, polypeptide 2"
    • Chromosome: 15, Band: 15q24.1
    • Gene Synonyms: CP12, P3-450, P450(PA)
    • Other Descriptions: "P450 form 4, aryl hydrocarbon hydroxylase, cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2, dioxin-inducible P3-450, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
    • Cross-references: NCBI: 1544, Ensembl: ENSG00000140505
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • RCAN3
    • Genotator Score: 0.0
    • Description: RCAN family member 3
    • Chromosome: 1, Band: 1p35.3-p33
    • Gene Synonyms: DSCR1L2, MCIP3, RCN3, hRCN3
    • Other Descriptions: Down syndrome candidate region 1-like 2, Down syndrome critical region gene 1-like 2, OTTHUMP00000003336, regulator of calcineurin 3
    • Cross-references: NCBI: 11123, Ensembl: ENSG00000117602
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • JUNB
    • Genotator Score: 0.0
    • Description: jun B proto-oncogene
    • Chromosome: 19, Band: 19p13.2
    • Gene Synonyms: AP-1
    • Other Descriptions: activator protein 1
    • Cross-references: NCBI: 3726, Ensembl: ENSG00000171223
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • ATP7A
    • Genotator Score: 0.0
    • Description: "ATPase, Cu++ transporting, alpha polypeptide"
    • Chromosome: X, Band: Xq13.2-q13.3
    • Gene Synonyms: FLJ17790, MK, MNK
    • Other Descriptions: Cu++-transporting P-type ATPase, Menkes disease-associated protein, OTTHUMP00000023593, OTTHUMP00000062077, copper pump 1, copper-transporting ATPase 1
    • Cross-references: NCBI: 538, Ensembl: ENSG00000165240
    • Evidence:
  • ADRB2
    • Genotator Score: 0.0
    • Description: "adrenergic, beta-2-, receptor, surface"
    • Chromosome: 5, Band: 5q31-q32
    • Gene Synonyms: ADRB2R, ADRBR, B2AR, BAR, BETA2AR
    • Other Descriptions: beta-2 adrenergic receptor, beta-2 adrenoceptor, catecholamine receptor
    • Cross-references: NCBI: 154, Ensembl: ENSG00000169252
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • SDS
    • Genotator Score: 0.0
    • Description: serine dehydratase
    • Chromosome: 12, Band: 12q24.13
    • Gene Synonyms: SDH
    • Other Descriptions: L-serine ammonia-lyase, L-serine deaminase, L-serine dehydratase
    • Cross-references: NCBI: 10993, Ensembl: ENSG00000135094
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • CLIP2
    • Genotator Score: 0.0
    • Description: CAP-GLY domain containing linker protein 2
    • Chromosome: 7, Band: 7q11.23
    • Gene Synonyms: CLIP, CLIP-115, CYLN2, KIAA0291, MGC11333, WBSCR3, WBSCR4, WSCR3, WSCR4
    • Other Descriptions: OTTHUMP00000160724, Williams-Beuren syndrome chromosome region 3, Williams-Beuren syndrome chromosome region 4, cytoplasmic linker 2
    • Cross-references: NCBI: 7461, Ensembl: ENSG00000106665
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • DSC1
    • Genotator Score: 0.0
    • Description: desmocollin 1
    • Chromosome: 18, Band: 18q12.2|18q12.1
    • Gene Synonyms: CDHF1, DG2/DG3
    • Other Descriptions: desmosomal glycoprotein 2/3
    • Cross-references: NCBI: 1823, Ensembl: ENSG00000134765
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • PAF1
    • Genotator Score: 0.0
    • Description: "Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)"
    • Chromosome: 19, Band: 19q13.1
    • Gene Synonyms: F23149_1, FLJ11123, PD2
    • Other Descriptions: "Paf1, RNA polymerase II associated factor, homolog"
    • Cross-references: NCBI: 54623, Ensembl: ENSG00000006712
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: PharmGKB
  • ATP7B
    • Genotator Score: 0.0
    • Description: "ATPase, Cu++ transporting, beta polypeptide"
    • Chromosome: 13, Band: 13q14.3
    • Gene Synonyms: PWD, WC1, WD, WND
    • Other Descriptions: "ATPase, Cu(2+)- transporting, beta polypeptide, OTTHUMP00000040880, Wilson disease-associated protein, copper pump 2, copper-transporting ATPase 2"
    • Cross-references: NCBI: 540, Ensembl: ENSG00000123191
    • Evidence:
      • Pubmed Ids:
      • HuGE Navigator Score: None
      • GAD counts: yes=0, no=0, null=0
      • Evidence Sources: WikiGenes
Brought to you by The Wall Laboratory for Translational Bioinformatics and The Laboratory for Personalized Medicine
at The Center For Biomedical Informatics at Harvard Medical School
© 2010 - 2013