TaoMedAI/RareMedData huggingface dataset:
Rare disease: Dravet syndrome (Orphanet code 33069)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 1
Symbol: SCN1A
Synonyms: lang: en
text: GEFSP2
lang: en
text: HBSCI
lang: en
text: NAC1
lang: en
text: Nav1.1
lang: en
text: SMEI
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel beta subunit 1
Symbol: SCN1B
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 9
Symbol: SCN9A
Synonyms: lang: en
text: ETHA
lang: en
text: NE-NA
lang: en
text: NENA
lang: en
text: Nav1.7
lang: en
text: PN1
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit alpha1
Symbol: GABRA1
Synonyms: lang: en
text: EJM5
lang: en
text: GABA(A) receptor, alpha 1
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit gamma2
Symbol: GABRG2
Synonyms: lang: en
text: GABA(A) receptor, gamma 2
GeneType: Name: gene with protein product
Name: protocadherin 19
Symbol: PCDH19
Synonyms: lang: en
text: EIEE9
lang: en
text: KIAA1313
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 2
Symbol: SCN2A
Synonyms: lang: en
text: HBSCI
lang: en
text: HBSCII
lang: en
text: Nav1.2
GeneType: Name: gene with protein product
Rare disease: Lymphedema-distichiasis syndrome (Orphanet code 33001)
Associated genes:
Name: forkhead box C2
Symbol: FOXC2
Synonyms: lang: en
text: MFH-1
lang: en
text: mesenchyme forkhead 1
GeneType: Name: gene with protein product
Rare disease: Reticular dysgenesis (Orphanet code 33355)
Associated genes:
Name: adenylate kinase 2
Symbol: AK2
GeneType: Name: gene with protein product
Rare disease: Familial lipase maturation factor 1 deficiency (Orphanet code 535453)
Associated genes:
Name: lipase maturation factor 1
Symbol: LMF1
Synonyms: lang: en
text: FLJ12681
lang: en
text: FLJ22302
lang: en
text: JFP11
lang: en
text: TMEM112A
GeneType: Name: gene with protein product
Rare disease: Trichothiodystrophy (Orphanet code 33364)
Associated genes:
Name: M-phase specific PLK1 interacting protein
Symbol: MPLKIP
Synonyms: lang: en
text: ORF20
lang: en
text: TTDN1
lang: en
text: tricothiodystrophy, non-photosensitive 1
GeneType: Name: gene with protein product
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
Symbol: ERCC2
Synonyms: lang: en
text: EM9
lang: en
text: MAG
lang: en
text: MGC102762
lang: en
text: MGC126218
lang: en
text: MGC126219
lang: en
text: TFIIH
lang: en
text: TFIIH basal transcription factor complex helicase XPB subunit
lang: en
text: excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
GeneType: Name: gene with protein product
Name: general transcription factor IIH subunit 5
Symbol: GTF2H5
Synonyms: lang: en
text: DNA repair syndrome trichothiodystrophy group A
lang: en
text: FLJ30544
lang: en
text: TFB5
lang: en
text: TFIIH
lang: en
text: TTD-A
lang: en
text: TTDA
lang: en
text: bA120J8.2
GeneType: Name: gene with protein product
Name: ERCC excision repair 3, TFIIH core complex helicase subunit
Symbol: ERCC3
Synonyms: lang: en
text: BTF2
lang: en
text: GTF2H
lang: en
text: RAD25
lang: en
text: Ssl2
lang: en
text: TFIIH
lang: en
text: XPB
lang: en
text: xeroderma pigmentosum group B complementing
GeneType: Name: gene with protein product
Name: ring finger protein 113A
Symbol: RNF113A
Synonyms: lang: en
text: Cwc24
lang: en
text: RNF113
GeneType: Name: gene with protein product
Name: general transcription factor IIE subunit 2
Symbol: GTF2E2
Synonyms: lang: en
text: FE
lang: en
text: TF2E2
lang: en
text: TFIIE beta subunit
lang: en
text: TFIIE-B
lang: en
text: Transcription initiation factor IIE subunit beta
GeneType: Name: gene with protein product
Name: threonyl-tRNA synthetase 1
Symbol: TARS1
Synonyms: lang: en
text: threonine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: cysteinyl-tRNA synthetase 1
Symbol: CARS1
Synonyms: lang: en
text: CARS1
lang: en
text: Cysteine tRNA ligase 1, cytoplasmic
lang: en
text: cysteine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: alanyl-tRNA synthetase 1
Symbol: AARS1
Synonyms: lang: en
text: AlaRS
lang: en
text: CMT2N
lang: en
text: alanine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Waldenström macroglobulinemia (Orphanet code 33226)
Associated genes:
Name: MYD88 innate immune signal transduction adaptor
Symbol: MYD88
Synonyms: lang: en
text: TLR adaptor MYD88
GeneType: Name: gene with protein product
Rare disease: Infantile neuroaxonal dystrophy (Orphanet code 35069)
Associated genes:
Name: phospholipase A2 group VI
Symbol: PLA2G6
Synonyms: lang: en
text: NBIA2
lang: en
text: Neurodegeneration with brain iron accumulation 2
lang: en
text: PARK14
lang: en
text: PNPLA9
lang: en
text: iPLA2
lang: en
text: iPLA2beta
lang: en
text: neurodegeneration with brain iron accumulation 2
GeneType: Name: gene with protein product
Rare disease: Non-syndromic sagittal craniosynostosis (Orphanet code 35093)
Associated genes:
Name: ALX homeobox 4
Symbol: ALX4
Synonyms: lang: en
text: FPP
lang: en
text: KIAA1788
lang: en
text: PFM
GeneType: Name: gene with protein product
Name: ETS2 repressor factor
Symbol: ERF
Synonyms: lang: en
text: PE-2
lang: en
text: PE2
GeneType: Name: gene with protein product
Name: twist family bHLH transcription factor 1
Symbol: TWIST1
Synonyms: lang: en
text: BPES2
lang: en
text: CRS1
lang: en
text: H-twist
lang: en
text: SCS
lang: en
text: Saethre-Chotzen syndrome
lang: en
text: bHLHa38
GeneType: Name: gene with protein product
Rare disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency (Orphanet code 35078)
Associated genes:
Name: Janus kinase 3
Symbol: JAK3
Synonyms: lang: en
text: JAK-3
lang: en
text: JAK3_HUMAN
lang: en
text: JAKL
lang: en
text: L-JAK
lang: en
text: LJAK
lang: en
text: leukocyte Janus kinase
lang: en
text: tyrosine-protein kinase JAK3
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet code 34520)
Associated genes:
Name: integrin subunit alpha 7
Symbol: ITGA7
GeneType: Name: gene with protein product
Rare disease: Telethonin-related limb-girdle muscular dystrophy R7 (Orphanet code 34514)
Associated genes:
Name: titin-cap
Symbol: TCAP
Synonyms: lang: en
text: 19 kDa sarcomeric protein
lang: en
text: CMD1N
lang: en
text: T-cap
lang: en
text: TELE
lang: en
text: telethonin
lang: en
text: teneurin C-terminal associated peptide
GeneType: Name: gene with protein product
Rare disease: FKRP-related limb-girdle muscular dystrophy R9 (Orphanet code 34515)
Associated genes:
Name: fukutin related protein
Symbol: FKRP
Synonyms: lang: en
text: FKTR
lang: en
text: LGMD2I
lang: en
text: MDC1C
lang: en
text: Ribitol 5-phosphate transferase
GeneType: Name: gene with protein product
Rare disease: DNAJB6-related limb-girdle muscular dystrophy D1 (Orphanet code 34516)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member B6
Symbol: DNAJB6
Synonyms: lang: en
text: MRJ
GeneType: Name: gene with protein product
Rare disease: Danon disease (Orphanet code 34587)
Associated genes:
Name: lysosomal associated membrane protein 2
Symbol: LAMP2
Synonyms: lang: en
text: CD107b
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency by defective expression of MHC class I (Orphanet code 34592)
Associated genes:
Name: transporter 2, ATP binding cassette subfamily B member
Symbol: TAP2
Synonyms: lang: en
text: D6S217E
lang: en
text: PSF2
lang: en
text: RING11
GeneType: Name: gene with protein product
Name: transporter 1, ATP binding cassette subfamily B member
Symbol: TAP1
Synonyms: lang: en
text: D6S114E
lang: en
text: PSF1
lang: en
text: RING4
GeneType: Name: gene with protein product
Name: TAP binding protein
Symbol: TAPBP
Synonyms: lang: en
text: NGS17
lang: en
text: TAPA
lang: en
text: TPN
lang: en
text: TPSN
lang: en
text: tapasin
GeneType: Name: gene with protein product
Name: beta-2-microglobulin
Symbol: B2M
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant primary hypomagnesemia with hypocalciuria (Orphanet code 34528)
Associated genes:
Name: FXYD domain containing ion transport regulator 2
Symbol: FXYD2
Synonyms: lang: en
text: MGC12372
GeneType: Name: gene with protein product
Rare disease: Myopathic Ehlers-Danlos syndrome (Orphanet code 536516)
Associated genes:
Name: collagen type XII alpha 1 chain
Symbol: COL12A1
Synonyms: lang: en
text: collagen type XII proteoglycan
GeneType: Name: gene with protein product
Rare disease: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (Orphanet code 536467)
Associated genes:
Name: beta-1,3-galactosyltransferase 6
Symbol: B3GALT6
Synonyms: lang: en
text: beta-1,3-galactosyltransferase-6
lang: en
text: beta3GalT6
GeneType: Name: gene with protein product
Rare disease: Classical-like Ehlers-Danlos syndrome type 2 (Orphanet code 536532)
Associated genes:
Name: AE binding protein 1
Symbol: AEBP1
Synonyms: lang: en
text: ACLP
lang: en
text: adipocyte enhancer binding protein 1
lang: en
text: aortic carboxypeptidase-like protein
GeneType: Name: gene with protein product
Rare disease: PLG-related hereditary angioedema with normal C1Inh (Orphanet code 537072)
Associated genes:
Name: plasminogen
Symbol: PLG
GeneType: Name: gene with protein product
Rare disease: Tumor necrosis factor receptor 1 associated periodic syndrome (Orphanet code 32960)
Associated genes:
Name: TNF receptor superfamily member 1A
Symbol: TNFRSF1A
Synonyms: lang: en
text: CD120a
lang: en
text: TNF-R
lang: en
text: TNF-R-I
lang: en
text: TNF-R55
lang: en
text: TNFAR
lang: en
text: TNFR60
GeneType: Name: gene with protein product
Rare disease: Pseudo-von Willebrand disease (Orphanet code 52530)
Associated genes:
Name: glycoprotein Ib platelet subunit alpha
Symbol: GP1BA
Synonyms: lang: en
text: CD42b
lang: en
text: GPIbalpha
lang: en
text: platelet glycoprotein Ib alpha chain
GeneType: Name: gene with protein product
Rare disease: Myelodysplastic syndrome (Orphanet code 52688)
Associated genes:
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Rare disease: Branchiootic syndrome (Orphanet code 52429)
Associated genes:
Name: EYA transcriptional coactivator and phosphatase 1
Symbol: EYA1
GeneType: Name: gene with protein product
Name: SIX homeobox 1
Symbol: SIX1
GeneType: Name: gene with protein product
Rare disease: X-linked creatine transporter deficiency (Orphanet code 52503)
Associated genes:
Name: solute carrier family 6 member 8
Symbol: SLC6A8
Synonyms: lang: en
text: CRT
lang: en
text: CRT-1
lang: en
text: CRT1
lang: en
text: CRTR
lang: en
text: CT1
lang: en
text: Sodium- and chloride-dependent creatine transporter 1
lang: en
text: creatine transporter
GeneType: Name: gene with protein product
Rare disease: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Orphanet code 52430)
Associated genes:
Name: valosin containing protein
Symbol: VCP
Synonyms: lang: en
text: CDC48
lang: en
text: IBMPFD
lang: en
text: TERA
lang: en
text: p97
lang: en
text: transitional endoplasmic reticulum ATPase
GeneType: Name: gene with protein product
Name: heterogeneous nuclear ribonucleoprotein A2/B1
Symbol: HNRNPA2B1
Synonyms: lang: en
text: HNRNPA2
lang: en
text: HNRNPB1
GeneType: Name: gene with protein product
Name: heterogeneous nuclear ribonucleoprotein A1
Symbol: HNRNPA1
Synonyms: lang: en
text: ALS20
lang: en
text: hnRNP-A1
lang: en
text: hnRNPA1
GeneType: Name: gene with protein product
Rare disease: Mantle cell lymphoma (Orphanet code 52416)
Associated genes:
Name: cyclin D1
Symbol: CCND1
Synonyms: lang: en
text: B-cell CLL/lymphoma 1
lang: en
text: G1/S-specific cyclin D1
lang: en
text: U21B31
lang: en
text: parathyroid adenomatosis 1
GeneType: Name: gene with protein product
Name: ATM serine/threonine kinase
Symbol: ATM
Synonyms: lang: en
text: TEL1
lang: en
text: TEL1, telomere maintenance 1, homolog (S. cerevisiae)
lang: en
text: TELO1
GeneType: Name: gene with protein product
Name: immunoglobulin heavy locus
Symbol: IGH
GeneType: Name: gene with protein product
Rare disease: Retinitis punctata albescens (Orphanet code 52427)
Associated genes:
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: retinol dehydrogenase 5
Symbol: RDH5
Synonyms: lang: en
text: HSD17B9
lang: en
text: SDR9C5
lang: en
text: short chain dehydrogenase/reductase family 9C, member 5
GeneType: Name: gene with protein product
Name: rhodopsin
Symbol: RHO
Synonyms: lang: en
text: CSNBAD1
lang: en
text: OPN2
lang: en
text: opsin 2, rod pigment
GeneType: Name: gene with protein product
Name: retinaldehyde binding protein 1
Symbol: RLBP1
Synonyms: lang: en
text: CRALBP
GeneType: Name: gene with protein product
Rare disease: MALT lymphoma (Orphanet code 52417)
Associated genes:
Name: MALT1 paracaspase
Symbol: MALT1
Synonyms: lang: en
text: MALT1 protease
lang: en
text: PCASP1
lang: en
text: paracaspase 1
GeneType: Name: gene with protein product
Name: baculoviral IAP repeat containing 3
Symbol: BIRC3
Synonyms: lang: en
text: MALT2
lang: en
text: MIHC
lang: en
text: RNF49
lang: en
text: TNFR2-TRAF signaling complex protein
lang: en
text: apoptosis inhibitor 2
lang: en
text: c-IAP2
lang: en
text: cIAP2
lang: en
text: hiap-1
lang: en
text: inhibitor of apoptosis protein 1
lang: en
text: mammalian IAP homolog C
GeneType: Name: gene with protein product
Name: immunoglobulin heavy locus
Symbol: IGH
GeneType: Name: gene with protein product
Name: forkhead box P1
Symbol: FOXP1
Synonyms: lang: en
text: 12CC4
lang: en
text: HSPC215
lang: en
text: PAX5/FOXP1 fusion protein
lang: en
text: QRF1
lang: en
text: fork head-related protein like B
lang: en
text: glutamine-rich factor 1
lang: en
text: hFKH1B
GeneType: Name: gene with protein product
Name: BCL10 immune signaling adaptor
Symbol: BCL10
Synonyms: lang: en
text: CARD containing molecule enhancing NF-kB
lang: en
text: CARD-containing apoptotic signaling protein
lang: en
text: CARD-containing proapoptotic protein
lang: en
text: CARD-like apoptotic protein
lang: en
text: CARMEN
lang: en
text: CIPER
lang: en
text: CLAP
lang: en
text: c-E10
lang: en
text: caspase-recruiting domain-containing protein
lang: en
text: mE10
GeneType: Name: gene with protein product
Rare disease: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (Orphanet code 52055)
Associated genes:
Name: immunoglobulin binding protein 1
Symbol: IGBP1
Synonyms: lang: en
text: a4
lang: en
text: alpha 4
GeneType: Name: gene with protein product
Rare disease: Mohr-Tranebjaerg syndrome (Orphanet code 52368)
Associated genes:
Name: translocase of inner mitochondrial membrane 8A
Symbol: TIMM8A
Synonyms: lang: en
text: DDP
lang: en
text: MTS
GeneType: Name: gene with protein product
Rare disease: Muenke syndrome (Orphanet code 53271)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Rare disease: Brody myopathy (Orphanet code 53347)
Associated genes:
Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
Symbol: ATP2A1
Synonyms: lang: en
text: SERCA1
lang: en
text: calcium pump 1
lang: en
text: sarcoplasmic/endoplasmic reticulum calcium ATPase 1
GeneType: Name: gene with protein product
Rare disease: Caroli disease (Orphanet code 53035)
Associated genes:
Name: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Symbol: PKHD1
Synonyms: lang: en
text: ARPKD
lang: en
text: FCYT
lang: en
text: FPC
lang: en
text: fibrocystin
lang: en
text: fibrocystin/polyductin complex
lang: en
text: polyductin
lang: en
text: tigmin
GeneType: Name: gene with protein product
Rare disease: Isolated follicle stimulating hormone deficiency (Orphanet code 52901)
Associated genes:
Name: follicle stimulating hormone subunit beta
Symbol: FSHB
Synonyms: lang: en
text: follitropin, beta chain
GeneType: Name: gene with protein product
Rare disease: Congenital lactase deficiency (Orphanet code 53690)
Associated genes:
Name: lactase
Symbol: LCT
GeneType: Name: gene with protein product
Rare disease: Congenital chloride diarrhea (Orphanet code 53689)
Associated genes:
Name: solute carrier family 26 member 3
Symbol: SLC26A3
Synonyms: lang: en
text: Chloride anion exchanger
GeneType: Name: gene with protein product
Rare disease: Classic pyoderma gangrenosum (Orphanet code 538863)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 6
Symbol: PTPN6
GeneType: Name: gene with protein product
Rare disease: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome (Orphanet code 538574)
Associated genes:
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (Orphanet code 53583)
Associated genes:
Name: solute carrier family 2 member 1
Symbol: SLC2A1
Synonyms: lang: en
text: DYT18
lang: en
text: DYT9
lang: en
text: GLUT-1
lang: en
text: dystonia gene 18
lang: en
text: dystonia gene 9
GeneType: Name: gene with protein product
Rare disease: Goldmann-Favre syndrome (Orphanet code 53540)
Associated genes:
Name: nuclear receptor subfamily 2 group E member 3
Symbol: NR2E3
Synonyms: lang: en
text: PNR
lang: en
text: RP37
lang: en
text: rd7
GeneType: Name: gene with protein product
Rare disease: X-linked dystonia-parkinsonism (Orphanet code 53351)
Associated genes:
Name: TATA-box binding protein associated factor 1
Symbol: TAF1
Synonyms: lang: en
text: DYT3/TAF1
lang: en
text: KAT4
lang: en
text: NSCL2
lang: en
text: TAFII250
GeneType: Name: gene with protein product
Rare disease: Left ventricular noncompaction (Orphanet code 54260)
Associated genes:
Name: pleckstrin homology and RUN domain containing M2
Symbol: PLEKHM2
Synonyms: lang: en
text: KIAA0842
GeneType: Name: gene with protein product
Name: troponin T2, cardiac type
Symbol: TNNT2
Synonyms: lang: en
text: CMPD2
GeneType: Name: gene with protein product
Name: plakophilin 2
Symbol: PKP2
GeneType: Name: gene with protein product
Name: actin alpha cardiac muscle 1
Symbol: ACTC1
Synonyms: lang: en
text: CMD1R
GeneType: Name: gene with protein product
Name: tropomyosin 1
Symbol: TPM1
GeneType: Name: gene with protein product
Name: dystrobrevin alpha
Symbol: DTNA
Synonyms: lang: en
text: D18S892E
lang: en
text: DRP3
lang: en
text: DTN
lang: en
text: DTN-1
lang: en
text: DTN-2
lang: en
text: DTN-3
lang: en
text: dystrophin-related protein 3
GeneType: Name: gene with protein product
Name: myosin binding protein C3
Symbol: MYBPC3
Synonyms: lang: en
text: FHC
lang: en
text: MYBP-C
lang: en
text: cMyBP-C
GeneType: Name: gene with protein product
Name: myosin heavy chain 7
Symbol: MYH7
Synonyms: lang: en
text: CMD1S
GeneType: Name: gene with protein product
Name: LIM domain binding 3
Symbol: LDB3
Synonyms: lang: en
text: KIAA0613
lang: en
text: PDLIM6
lang: en
text: Z-band alternatively spliced PDZ motif protein
lang: en
text: ZASP
lang: en
text: cypher
lang: en
text: oracle
GeneType: Name: gene with protein product
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Name: MIB E3 ubiquitin protein ligase 1
Symbol: MIB1
Synonyms: lang: en
text: DAPK-interacting protein 1
lang: en
text: DIP-1
lang: en
text: KIAA1323
lang: en
text: MIB
lang: en
text: ZZANK2
lang: en
text: ZZZ6
GeneType: Name: gene with protein product
Name: PR/SET domain 16
Symbol: PRDM16
Synonyms: lang: en
text: KIAA1675
lang: en
text: KMT8F
lang: en
text: MDS1/EVI1-like
lang: en
text: MEL1
lang: en
text: MGC166915
lang: en
text: PFM13
lang: en
text: PR-domain zinc finger protein 16
lang: en
text: Transcription factor MEL1
lang: en
text: transcription factor MEL1
GeneType: Name: gene with protein product
Name: myosin heavy chain 7B
Symbol: MYH7B
Synonyms: lang: en
text: KIAA1512
lang: en
text: MHC14
lang: en
text: MYH14
lang: en
text: dJ756N5.1
lang: en
text: lncMYH7b
GeneType: Name: gene with protein product
Name: MIB E3 ubiquitin protein ligase 2
Symbol: MIB2
Synonyms: lang: en
text: FLJ39787
lang: en
text: ZZZ5
lang: en
text: skeletrophin
GeneType: Name: gene with protein product
Rare disease: X-linked lymphoproliferative disease due to XIAP deficiency (Orphanet code 538934)
Associated genes:
Name: X-linked inhibitor of apoptosis
Symbol: XIAP
Synonyms: lang: en
text: IAP-like protein 1
lang: en
text: ILP-1
lang: en
text: hILP
GeneType: Name: gene with protein product
Rare disease: X-linked lymphoproliferative disease due to SAP deficiency (Orphanet code 538931)
Associated genes:
Name: SH2 domain containing 1A
Symbol: SH2D1A
Synonyms: lang: en
text: DSHP
lang: en
text: Duncan's disease
lang: en
text: EBVS
lang: en
text: MTCP1
lang: en
text: SAP
lang: en
text: XLP
lang: en
text: XLPD
GeneType: Name: gene with protein product
Rare disease: Arthrogryposis-anterior horn cell disease syndrome (Orphanet code 53696)
Associated genes:
Name: GLE1 RNA export mediator
Symbol: GLE1
Synonyms: lang: en
text: hGLE1
GeneType: Name: gene with protein product
Rare disease: Vegetative pyoderma gangrenosum (Orphanet code 538872)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 6
Symbol: PTPN6
GeneType: Name: gene with protein product
Rare disease: Gnathodiaphyseal dysplasia (Orphanet code 53697)
Associated genes:
Name: anoctamin 5
Symbol: ANO5
Synonyms: lang: en
text: GDD1
GeneType: Name: gene with protein product
Rare disease: Congenital cornea plana (Orphanet code 53691)
Associated genes:
Name: keratocan
Symbol: KERA
Synonyms: lang: en
text: SLRR2B
lang: en
text: keratocan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Bullous pyoderma gangrenosum (Orphanet code 538869)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 6
Symbol: PTPN6
GeneType: Name: gene with protein product
Rare disease: Pustular pyoderma gangrenosum (Orphanet code 538866)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 6
Symbol: PTPN6
GeneType: Name: gene with protein product
Rare disease: GRACILE syndrome (Orphanet code 53693)
Associated genes:
Name: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Symbol: BCS1L
Synonyms: lang: en
text: BCS
lang: en
text: BJS
lang: en
text: Bjornstad syndrome
lang: en
text: GRACILE syndrome
lang: en
text: Hs.6719
lang: en
text: h-BCS
GeneType: Name: gene with protein product
Rare disease: Aceruloplasminemia (Orphanet code 48818)
Associated genes:
Name: ceruloplasmin
Symbol: CP
Synonyms: lang: en
text: AB073614
lang: en
text: ferroxidase
GeneType: Name: gene with protein product