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P56705 (WNT4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 132. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein Wnt-4
Gene names
Name:WNT4
ORF Names:UNQ426/PRO864
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length351 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters By similarity. Overexpression may be associated with abnormal proliferation in human breast tissue.

Subunit structure

Interacts with PORCN By similarity.

Subcellular location

Secretedextracellular spaceextracellular matrix.

Post-translational modification

Palmitoylation at Ser-212 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-78. Palmitoylation is necessary for proper trafficking to cell surface By similarity.

Involvement in disease

Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]: Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls.
Note: The disease is caused by mutations affecting the gene represented in this entry.

46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]: A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]: A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the Wnt family.

Ontologies

Keywords
   Biological processWnt signaling pathway
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainSignal
   Molecular functionDevelopmental protein
   PTMGlycoprotein
Lipoprotein
Palmitate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadrenal gland development

Inferred from expression pattern PubMed 12844346. Source: UniProtKB

androgen biosynthetic process

Inferred from direct assay Ref.11. Source: UniProtKB

branching involved in ureteric bud morphogenesis

Inferred from electronic annotation. Source: Ensembl

canonical Wnt signaling pathway

Inferred from direct assay Ref.10. Source: UniProtKB

cell fate commitment

Inferred from Biological aspect of Ancestor. Source: RefGenome

cellular response to transforming growth factor beta stimulus

Inferred from expression pattern PubMed 15040835. Source: UniProtKB

embryonic epithelial tube formation

Inferred from electronic annotation. Source: Ensembl

epithelial to mesenchymal transition

Inferred from expression pattern PubMed 12841867. Source: UniProtKB

establishment of protein localization to plasma membrane

Inferred from direct assay PubMed 17976063. Source: UniProtKB

female gonad development

Inferred from sequence or structural similarity. Source: UniProtKB

female sex determination

Inferred from mutant phenotype Ref.2. Source: UniProtKB

immature T cell proliferation in thymus

Inferred from electronic annotation. Source: Ensembl

liver development

Inferred from expression pattern PubMed 15312687. Source: UniProtKB

male gonad development

Inferred from mutant phenotype Ref.2. Source: UniProtKB

mammary gland epithelium development

Inferred from expression pattern Ref.7. Source: UniProtKB

mesenchymal to epithelial transition

Inferred from electronic annotation. Source: Ensembl

mesonephric tubule development

Inferred from electronic annotation. Source: Ensembl

metanephric mesenchymal cell differentiation

Non-traceable author statement PubMed 16368682. Source: UniProtKB

metanephric nephron morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic signaling pathway

Inferred from electronic annotation. Source: Ensembl

negative regulation of canonical Wnt signaling pathway

Inferred from direct assay PubMed 17976063. Source: UniProtKB

negative regulation of cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell migration

Inferred from electronic annotation. Source: Ensembl

negative regulation of fibroblast growth factor receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

negative regulation of male gonad development

Inferred from mutant phenotype Ref.2. Source: UniProtKB

negative regulation of testicular blood vessel morphogenesis

Inferred from mutant phenotype PubMed 12949260. Source: UniProtKB

negative regulation of testosterone biosynthetic process

Inferred from mutant phenotype PubMed 12949260. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from mutant phenotype PubMed 12949260. Source: UniProtKB

negative regulation of wound healing

Inferred from electronic annotation. Source: Ensembl

neuron differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

non-canonical Wnt signaling pathway via MAPK cascade

Inferred from direct assay PubMed 17720811. Source: BHF-UCL

oocyte development

Inferred from electronic annotation. Source: Ensembl

paramesonephric duct development

Inferred from mutant phenotype Ref.13. Source: UniProtKB

positive regulation of Rho GTPase activity

Inferred from electronic annotation. Source: Ensembl

positive regulation of aldosterone biosynthetic process

Inferred from direct assay PubMed 16981135. Source: UniProtKB

positive regulation of bone mineralization

Inferred from direct assay PubMed 17720811. Source: BHF-UCL

positive regulation of canonical Wnt signaling pathway

Inferred from direct assay Ref.11Ref.13. Source: UniProtKB

positive regulation of collagen biosynthetic process

Inferred from direct assay PubMed 17720811. Source: BHF-UCL

positive regulation of cortisol biosynthetic process

Inferred from direct assay PubMed 16981135. Source: UniProtKB

positive regulation of dermatome development

Inferred from direct assay PubMed 10654605. Source: BHF-UCL

positive regulation of focal adhesion assembly

Inferred from electronic annotation. Source: Ensembl

positive regulation of meiosis

Inferred from electronic annotation. Source: Ensembl

positive regulation of osteoblast differentiation

Inferred from direct assay PubMed 17720811. Source: BHF-UCL

positive regulation of stress fiber assembly

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.11PubMed 16981135Ref.13. Source: UniProtKB

protein palmitoylation

Inferred from direct assay Ref.10. Source: UniProtKB

regulation of cell-cell adhesion

Inferred from electronic annotation. Source: Ensembl

renal vesicle formation

Inferred from electronic annotation. Source: Ensembl

renal vesicle induction

Inferred from electronic annotation. Source: Ensembl

smooth muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

somatotropin secreting cell differentiation

Inferred from electronic annotation. Source: Ensembl

tertiary branching involved in mammary gland duct morphogenesis

Inferred from electronic annotation. Source: Ensembl

thyroid-stimulating hormone-secreting cell differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentGolgi lumen

Traceable author statement. Source: Reactome

cell surface

Inferred from sequence or structural similarity. Source: UniProtKB

endoplasmic reticulum lumen

Traceable author statement. Source: Reactome

extracellular space

Inferred from direct assay Ref.11. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionfrizzled binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

receptor agonist activity

Inferred by curator Ref.11. Source: BHF-UCL

transcription corepressor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 351329Protein Wnt-4
PRO_0000041421

Amino acid modifications

Lipidation781S-palmitoyl cysteine By similarity
Lipidation2121O-palmitoyl serine; by PORCN By similarity
Glycosylation881N-linked (GlcNAc...) Potential
Glycosylation2971N-linked (GlcNAc...) Potential

Natural variations

Natural variant121L → P in RKH syndrome; unable to suppress steroidogenesis in an ovarian adenocarcinoma cell line resulting in increased androgen production. Ref.13
VAR_043497
Natural variant831R → C in RKH syndrome; with androgen excess, normal kidney size and location; unable to suppress expression of steroidogenic enzymes in ovarian; impairs protein secretion. Ref.11
VAR_043498
Natural variant1141A → V in SERKAL; reduced transcript levels. Ref.12
VAR_043499
Natural variant2161E → G in RKH syndrome; unable to suppress expression of steroidogenic enzymes in ovarian and adrenal cell lines. Ref.10
VAR_034703
Natural variant2771P → L.
Corresponds to variant rs34228276 [ dbSNP | Ensembl ].
VAR_052955

Experimental info

Sequence conflict1061T → I in AAG38658. Ref.1
Sequence conflict1111F → L in AAG38658. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P56705 [UniParc].

Last modified May 10, 2002. Version 4.
Checksum: 465D08755C992DA8

FASTA35139,052
        10         20         30         40         50         60 
MSPRSCLRSL RLLVFAVFSA AASNWLYLAK LSSVGSISEE ETCEKLKGLI QRQVQMCKRN 

        70         80         90        100        110        120 
LEVMDSVRRG AQLAIEECQY QFRNRRWNCS TLDSLPVFGK VVTQGTREAA FVYAISSAGV 

       130        140        150        160        170        180 
AFAVTRACSS GELEKCGCDR TVHGVSPQGF QWSGCSDNIA YGVAFSQSFV DVRERSKGAS 

       190        200        210        220        230        240 
SSRALMNLHN NEAGRKAILT HMRVECKCHG VSGSCEVKTC WRAVPPFRQV GHALKEKFDG 

       250        260        270        280        290        300 
ATEVEPRRVG SSRALVPRNA QFKPHTDEDL VYLEPSPDFC EQDMRSGVLG TRGRTCNKTS 

       310        320        330        340        350 
KAIDGCELLC CGRGFHTAQV ELAERCSCKF HWCCFVKCRQ CQRLVELHTC R 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of six novel human WNT genes."
Testa T.T., Mossakowska D.E., Carter P.S., Hu E., Zhu Y., Kelsell D.P., Murdock P.R., Herrity N.C., Lewis C.J., Cross D.A., Culbert A.A., Reith A.D., Barnes M.R.
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Up-regulation of wnt-4 signaling and dosage-sensitive sex reversal in humans."
Jordan B.K., Mohammed M., Ching S.T., Delot E., Chen X.N., Dewing P., Swain A., Rao P.N., Elejalde B.R., Vilain E.
Am. J. Hum. Genet. 68:1102-1109(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[7]"Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue."
Huguet E.L., McMahon J.A., McMahon A.P., Bicknell R., Harris A.L.
Cancer Res. 54:2615-2621(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 210-329.
Tissue: Mammary gland.
[8]Peltoketo H., Heikkila M., Vainio S.
Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26.
[9]"Expression of Wnt-4 can be regulated by the Wilms' tumor suppressor gene, WT1."
Sim U.E., Smith A., Szilagi E., Ioannou P., Lindsay M.H., Little M.H.
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26.
[10]"A WNT4 mutation associated with Muellerian-duct regression and virilization in a 46,XX woman."
Biason-Lauber A., Konrad D., Navratil F., Schoenle E.J.
N. Engl. J. Med. 351:792-798(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RKH SYNDROME GLY-216, CHARACTERIZATION OF VARIANT RKH SYNDROME GLY-216.
[11]"WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report."
Biason-Lauber A., De Filippo G., Konrad D., Scarano G., Nazzaro A., Schoenle E.J.
Hum. Reprod. 22:224-229(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RKH SYNDROME CYS-83, CHARACTERIZATION OF VARIANT RKH SYNDROME CYS-83.
[12]"SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4."
Mandel H., Shemer R., Borochowitz Z.U., Okopnik M., Knopf C., Indelman M., Drugan A., Tiosano D., Gershoni-Baruch R., Choder M., Sprecher E.
Am. J. Hum. Genet. 82:39-47(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SERKAL VAL-114, CHARACTERIZATION OF VARIANT SERKAL VAL-114.
[13]"Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Muellerian duct abnormalities: a French collaborative study."
Philibert P., Biason-Lauber A., Rouzier R., Pienkowski C., Paris F., Konrad D., Schoenle E., Sultan C.
J. Clin. Endocrinol. Metab. 93:895-900(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RKH SYNDROME PRO-12, CHARACTERIZATION OF VARIANT RKH SYNDROME PRO-12.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY009398 mRNA. Translation: AAG38658.1.
AF316543 mRNA. Translation: AAK51699.1.
AY358947 mRNA. Translation: AAQ89306.1.
BT020125 mRNA. Translation: AAV38928.1.
AL445253, AL031281 Genomic DNA. Translation: CAI22251.1.
AL031281, AL445253 Genomic DNA. Translation: CAI19848.1.
BC057781 mRNA. Translation: AAH57781.1.
AF335591 Genomic DNA. Translation: AAK25765.1.
AH010731 Genomic DNA. Translation: AAK50427.1.
RefSeqNP_110388.2. NM_030761.4.
UniGeneHs.25766.

3D structure databases

ProteinModelPortalP56705.
SMRP56705. Positions 63-280.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119939. 5 interactions.
IntActP56705. 1 interaction.
STRING9606.ENSP00000290167.

PTM databases

PhosphoSiteP56705.

Polymorphism databases

DMDM20532425.

Proteomic databases

PaxDbP56705.
PRIDEP56705.

Protocols and materials databases

DNASU54361.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290167; ENSP00000290167; ENSG00000162552.
GeneID54361.
KEGGhsa:54361.
UCSCuc001bfs.4. human.

Organism-specific databases

CTD54361.
GeneCardsGC01M022443.
HGNCHGNC:12783. WNT4.
HPAHPA011397.
MIM158330. phenotype.
277000. phenotype.
603490. gene.
611812. phenotype.
neXtProtNX_P56705.
Orphanet247768. Atypical Mayer-Rokitansky-Kuster-Hauser syndrome.
139466. SERKAL syndrome.
PharmGKBPA37384.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284879.
HOGENOMHOG000039529.
HOVERGENHBG001595.
InParanoidP56705.
KOK00408.
OMAQVQICKR.
PhylomeDBP56705.
TreeFamTF105310.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkP56705.

Gene expression databases

ArrayExpressP56705.
BgeeP56705.
CleanExHS_WNT4.
GenevestigatorP56705.

Family and domain databases

InterProIPR005817. Wnt.
IPR009142. Wnt4.
IPR018161. Wnt_CS.
[Graphical view]
PANTHERPTHR12027. PTHR12027. 1 hit.
PTHR12027:SF19. PTHR12027:SF19. 1 hit.
PfamPF00110. wnt. 1 hit.
[Graphical view]
PRINTSPR01844. WNT4PROTEIN.
PR01349. WNTPROTEIN.
SMARTSM00097. WNT1. 1 hit.
[Graphical view]
PROSITEPS00246. WNT1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiWNT4.
GenomeRNAi54361.
NextBio56599.
PROP56705.
SOURCESearch...

Entry information

Entry nameWNT4_HUMAN
AccessionPrimary (citable) accession number: P56705
Secondary accession number(s): Q5TZQ0 expand/collapse secondary AC list , Q96T81, Q9BXF5, Q9H1J8, Q9UJM2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 10, 2002
Last modified: March 19, 2014
This is version 132 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM