Rare disease: Williams syndrome (Orphanet code 904)
Associated genes:
Name: syntaxin 1A
Symbol: STX1A
Synonyms: lang: en
text: HPC-1
lang: en
text: p35-1
GeneType: Name: gene with protein product
Name: transducin beta like 2
Symbol: TBL2
Synonyms: lang: en
text: DKFZP43N024
lang: en
text: WBSCR13
lang: en
text: WS-betaTRP
lang: en
text: Williams-Beuren syndrome chromosome region 13
GeneType: Name: gene with protein product
Name: GTF2I repeat domain containing 2
Symbol: GTF2IRD2
Synonyms: lang: en
text: FLJ37938
lang: en
text: GTF2IRD2A
lang: en
text: transcription factor GTF2IRD2
GeneType: Name: gene with protein product
Name: VPS37D subunit of ESCRT-I
Symbol: VPS37D
Synonyms: lang: en
text: MGC35352
GeneType: Name: gene with protein product
Name: FKBP prolyl isomerase family member 6 (inactive)
Symbol: FKBP6
Synonyms: lang: en
text: FK506 binding protein 6 (36kD)
lang: en
text: FKBP36
lang: en
text: PPIase
lang: en
text: immunophilin FKBP36
lang: en
text: peptidylprolyl cis-trans isomerase
lang: en
text: rotamase
GeneType: Name: gene with protein product
Name: replication factor C subunit 2
Symbol: RFC2
Synonyms: lang: en
text: A1
lang: en
text: RFC40
lang: en
text: activator 1
GeneType: Name: gene with protein product
Name: neutrophil cytosolic factor 1
Symbol: NCF1
Synonyms: lang: en
text: NADPH oxidase organizer 2
lang: en
text: NCF1A
lang: en
text: NOXO2
lang: en
text: SH3PXD1A
lang: en
text: chronic granulomatous disease, autosomal 1
lang: en
text: p47phox
GeneType: Name: gene with protein product
Name: transmembrane protein 270
Symbol: TMEM270
Synonyms: lang: en
text: MGC26719
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 4H
Symbol: EIF4H
Synonyms: lang: en
text: KIAA0038
lang: en
text: WSCR1
GeneType: Name: gene with protein product
Name: DnaJ heat shock protein family (Hsp40) member C30
Symbol: DNAJC30
GeneType: Name: gene with protein product
Name: methyltransferase like 27
Symbol: METTL27
GeneType: Name: gene with protein product
Name: BUD23 rRNA methyltransferase and ribosome maturation factor
Symbol: BUD23
Synonyms: lang: en
text: MERM1
lang: en
text: MGC19709
lang: en
text: MGC2022
lang: en
text: MGC5140
lang: en
text: PP3381
lang: en
text: WBMT
lang: en
text: metastasis-related methyltransferase 1
GeneType: Name: gene with protein product
Name: bromodomain adjacent to zinc finger domain 1B
Symbol: BAZ1B
Synonyms: lang: en
text: WSTF
lang: en
text: Williams-Beuren syndrome chromosome region 10
lang: en
text: Williams-Beuren syndrome chromosome region 9
lang: en
text: transcription factor WSTF
GeneType: Name: gene with protein product
Name: CAP-Gly domain containing linker protein 2
Symbol: CLIP2
Synonyms: lang: en
text: CLIP
lang: en
text: CLIP-115
lang: en
text: KIAA0291
lang: en
text: WSCR3
lang: en
text: WSCR4
GeneType: Name: gene with protein product
Name: elastin
Symbol: ELN
Synonyms: lang: en
text: SVAS
lang: en
text: WBS
lang: en
text: WS
lang: en
text: Williams-Beuren syndrome
lang: en
text: supravalvular aortic stenosis
lang: en
text: tropoelastin
GeneType: Name: gene with protein product
Name: general transcription factor IIi
Symbol: GTF2I
Synonyms: lang: en
text: BAP-135
lang: en
text: BTKAP1
lang: en
text: DIWS
lang: en
text: IB291
lang: en
text: SPIN
lang: en
text: TFII-I
GeneType: Name: gene with protein product
Name: GTF2I repeat domain containing 1
Symbol: GTF2IRD1
Synonyms: lang: en
text: BEN
lang: en
text: Cream1
lang: en
text: GTF3
lang: en
text: MusTRD1
lang: en
text: RBAP2
lang: en
text: WBSCR12
lang: en
text: binding factor for early enhancer
GeneType: Name: gene with protein product
Name: LIM domain kinase 1
Symbol: LIMK1
Synonyms: lang: en
text: LIMK
GeneType: Name: gene with protein product