TaoMedAI/RareMedData huggingface dataset:
Rare disease: Colobomatous microphthalmia-rhizomelic dysplasia syndrome (Orphanet code 424099)
Associated genes:
Name: mab-21 like 2
Symbol: MAB21L2
GeneType: Name: gene with protein product
Rare disease: TOR1AIP1-related limb-girdle muscular dystrophy (Orphanet code 424261)
Associated genes:
Name: torsin 1A interacting protein 1
Symbol: TOR1AIP1
Synonyms: lang: en
text: FLJ13142
lang: en
text: LAP1
lang: en
text: LAP1B
lang: en
text: LAP1C
lang: en
text: lamina associated polypeptide 1B
GeneType: Name: gene with protein product
Rare disease: Progressive myoclonic epilepsy type 8 (Orphanet code 424027)
Associated genes:
Name: ceramide synthase 1
Symbol: CERS1
Synonyms: lang: en
text: LAG1
lang: en
text: UOG1
GeneType: Name: gene with protein product
Rare disease: Microcephaly-complex motor and sensory axonal neuropathy syndrome (Orphanet code 423894)
Associated genes:
Name: VRK serine/threonine kinase 1
Symbol: VRK1
GeneType: Name: gene with protein product
Rare disease: STING-associated vasculopathy with onset in infancy (Orphanet code 425120)
Associated genes:
Name: stimulator of interferon response cGAMP interactor 1
Symbol: STING1
Synonyms: lang: en
text: ERIS
lang: en
text: FLJ38577
lang: en
text: MITA
lang: en
text: MPYS
lang: en
text: NET23
lang: en
text: STING
lang: en
text: endoplasmic reticulum IFN stimulator
lang: en
text: stimulator of interferon genes
GeneType: Name: gene with protein product
Rare disease: Progressive encephalopathy with leukodystrophy due to DECR deficiency (Orphanet code 431361)
Associated genes:
Name: NAD kinase 2, mitochondrial
Symbol: NADK2
Synonyms: lang: en
text: FLJ30596
lang: en
text: MNADK
lang: en
text: mitochondrial NAD kinase
GeneType: Name: gene with protein product
Rare disease: X-linked scapuloperoneal muscular dystrophy (Orphanet code 431272)
Associated genes:
Name: four and a half LIM domains 1
Symbol: FHL1
Synonyms: lang: en
text: FHL1B
lang: en
text: FLH1A
lang: en
text: Four-and-a-half LIM domains 1
lang: en
text: KYO-T
lang: en
text: LIM protein SLIMMER
lang: en
text: MGC111107
lang: en
text: SLIM1
lang: en
text: XMPMA
lang: en
text: bA535K18.1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 57 (Orphanet code 431329)
Associated genes:
Name: trafficking from ER to golgi regulator
Symbol: TFG
Synonyms: lang: en
text: FLJ36137
lang: en
text: SPG57
lang: en
text: TF6
GeneType: Name: gene with protein product
Rare disease: Scapuloperoneal spinal muscular atrophy (Orphanet code 431255)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 4
Symbol: TRPV4
Synonyms: lang: en
text: CMT2C
lang: en
text: OTRPC4
lang: en
text: TRP12
lang: en
text: VR-OAC
lang: en
text: VRL-2
lang: en
text: VROAC
lang: en
text: osmosensitive transient receptor potential channel 4
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to OX40 deficiency (Orphanet code 431149)
Associated genes:
Name: TNF receptor superfamily member 4
Symbol: TNFRSF4
Synonyms: lang: en
text: ACT35
lang: en
text: CD134
lang: en
text: OX40
GeneType: Name: gene with protein product
Rare disease: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (Orphanet code 431166)
Associated genes:
Name: interferon alpha and beta receptor subunit 2
Symbol: IFNAR2
Synonyms: lang: en
text: IFNalpha/beta receptor subunit 2
lang: en
text: interferon alpha/beta receptor 2
lang: en
text: type I interferon receptor 2
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 2
Symbol: STAT2
Synonyms: lang: en
text: STAT113
GeneType: Name: gene with protein product
Rare disease: Progressive myoclonic epilepsy type 7 (Orphanet code 435438)
Associated genes:
Name: potassium voltage-gated channel subfamily C member 1
Symbol: KCNC1
Synonyms: lang: en
text: Kv3.1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y (Orphanet code 435387)
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
Rare disease: Orofaciodigital syndrome type 14 (Orphanet code 434179)
Associated genes:
Name: C2 domain containing 3 centriole elongation regulator
Symbol: C2CD3
Synonyms: lang: en
text: DKFZP586P0123
GeneType: Name: gene with protein product
Rare disease: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (Orphanet code 504476)
Associated genes:
Name: replication factor C subunit 1
Symbol: RFC1
Synonyms: lang: en
text: A1
lang: en
text: MHCBFB
lang: en
text: PO-GA
lang: en
text: RFC140
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to LAT deficiency (Orphanet code 504523)
Associated genes:
Name: linker for activation of T cells
Symbol: LAT
Synonyms: lang: en
text: LAT1
lang: en
text: linker for activation of T cells, transmembrane adaptor
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to Moesin deficiency (Orphanet code 504530)
Associated genes:
Name: moesin
Symbol: MSN
GeneType: Name: gene with protein product
Rare disease: Very long chain acyl-CoA dehydrogenase deficiency (Orphanet code 26793)
Associated genes:
Name: acyl-CoA dehydrogenase very long chain
Symbol: ACADVL
Synonyms: lang: en
text: ACAD6
lang: en
text: LCACD
lang: en
text: VLCAD
GeneType: Name: gene with protein product
Rare disease: Hereditary pheochromocytoma-paraganglioma (Orphanet code 29072)
Associated genes:
Name: solute carrier family 25 member 11
Symbol: SLC25A11
Synonyms: lang: en
text: OGC
GeneType: Name: gene with protein product
Name: kinesin family member 1B
Symbol: KIF1B
Synonyms: lang: en
text: Charcot-Marie-Tooth neuropathy type II
lang: en
text: HMSNII
lang: en
text: KIAA0591
lang: en
text: KLP
GeneType: Name: gene with protein product
Name: malate dehydrogenase 2
Symbol: MDH2
GeneType: Name: gene with protein product
Name: dihydrolipoamide S-succinyltransferase
Symbol: DLST
Synonyms: lang: en
text: 2-oxoglutarate dehydrogenase complex component E2
lang: en
text: Dihydrolipoyllysine-residue succinyltransferase
lang: en
text: KGD2
lang: en
text: OGDC-E2
GeneType: Name: gene with protein product
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex flavoprotein subunit A
Symbol: SDHA
Synonyms: lang: en
text: FP
lang: en
text: SDHF
lang: en
text: flavoprotein subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] flavoprotein subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex subunit C
Symbol: SDHC
Synonyms: lang: en
text: CYB560
lang: en
text: cybL
lang: en
text: large subunit of cytochrome b
lang: en
text: succinate dehydrgenase cytochrome b
lang: en
text: succinate dehydrogenase cytochrome b560 subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex subunit D
Symbol: SDHD
Synonyms: lang: en
text: cybS
lang: en
text: small subunit of cytochrome b
GeneType: Name: gene with protein product
Name: fumarate hydratase
Symbol: FH
Synonyms: lang: en
text: fumarase
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex iron sulfur subunit B
Symbol: SDHB
Synonyms: lang: en
text: iron-sulfur subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] iron-sulfur subunit
GeneType: Name: gene with protein product
Name: transmembrane protein 127
Symbol: TMEM127
Synonyms: lang: en
text: FLJ20507
lang: en
text: FLJ22257
GeneType: Name: gene with protein product
Name: MYC associated factor X
Symbol: MAX
Synonyms: lang: en
text: bHLHd4
lang: en
text: bHLHd5
lang: en
text: bHLHd6
lang: en
text: bHLHd7
lang: en
text: bHLHd8
GeneType: Name: gene with protein product
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Name: von Hippel-Lindau tumor suppressor
Symbol: VHL
Synonyms: lang: en
text: VHL1
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex assembly factor 2
Symbol: SDHAF2
Synonyms: lang: en
text: FLJ20487
lang: en
text: SDH5
GeneType: Name: gene with protein product
Rare disease: Tyrosinemia type 2 (Orphanet code 28378)
Associated genes:
Name: tyrosine aminotransferase
Symbol: TAT
GeneType: Name: gene with protein product
Rare disease: Reactive arthritis (Orphanet code 29207)
Associated genes:
Name: major histocompatibility complex, class I, B
Symbol: HLA-B
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class I, B
Symbol: HLA-B
GeneType: Name: gene with protein product
Rare disease: Multiple myeloma (Orphanet code 29073)
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
Rare disease: Apparent mineralocorticoid excess (Orphanet code 320)
Associated genes:
Name: hydroxysteroid 11-beta dehydrogenase 2
Symbol: HSD11B2
Synonyms: lang: en
text: SDR9C3
lang: en
text: short chain dehydrogenase/reductase family 9C, member 3
GeneType: Name: gene with protein product
Rare disease: Dopamine beta-hydroxylase deficiency (Orphanet code 230)
Associated genes:
Name: dopamine beta-hydroxylase
Symbol: DBH
Synonyms: lang: en
text: DBM
lang: en
text: dopamine beta-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Continuous spikes and waves during sleep (Orphanet code 725)
Associated genes:
Name: glutamate ionotropic receptor NMDA type subunit 2A
Symbol: GRIN2A
Synonyms: lang: en
text: GluN2A
lang: en
text: NR2A
GeneType: Name: gene with protein product
Name: ferric chelate reductase 1 like
Symbol: FRRS1L
Synonyms: lang: en
text: CG-6
GeneType: Name: gene with protein product
Rare disease: Familial hyperaldosteronism type II (Orphanet code 404)
Associated genes:
Name: chloride voltage-gated channel 2
Symbol: CLCN2
Synonyms: lang: en
text: CLC2
lang: en
text: ClC-2
lang: en
text: EJM6
GeneType: Name: gene with protein product
Rare disease: Congenital cataract-anterior segment dysgenesis syndrome (Orphanet code 162)
Associated genes:
Name: paired like homeodomain 3
Symbol: PITX3
GeneType: Name: gene with protein product
Rare disease: Follicular lymphoma (Orphanet code 545)
Associated genes:
Name: BCL2 apoptosis regulator
Symbol: BCL2
Synonyms: lang: en
text: Bcl-2
lang: en
text: PPP1R50
lang: en
text: protein phosphatase 1, regulatory subunit 50
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Name: BCL6 transcription repressor
Symbol: BCL6
Synonyms: lang: en
text: BCL5
lang: en
text: BCL6A
lang: en
text: LAZ3
lang: en
text: ZBTB27
GeneType: Name: gene with protein product
Name: immunoglobulin heavy locus
Symbol: IGH
GeneType: Name: gene with protein product
Rare disease: Idiopathic aplastic anemia (Orphanet code 88)
Associated genes:
Name: perforin 1
Symbol: PRF1
Synonyms: lang: en
text: HPLH2
lang: en
text: P1
lang: en
text: PFP
lang: en
text: Perforin
lang: en
text: perforin 1 (preforming protein)
GeneType: Name: gene with protein product
Name: SBDS ribosome maturation factor
Symbol: SBDS
Synonyms: lang: en
text: CGI-97
lang: en
text: FLJ10917
lang: en
text: SDO1
lang: en
text: SDS
lang: en
text: SWDS
GeneType: Name: gene with protein product
Name: interferon gamma
Symbol: IFNG
GeneType: Name: gene with protein product
Name: telomerase reverse transcriptase
Symbol: TERT
Synonyms: lang: en
text: EST2
lang: en
text: TCS1
lang: en
text: TP2
lang: en
text: TRT
lang: en
text: hEST2
GeneType: Name: gene with protein product
Name: telomerase RNA component
Symbol: TERC
Synonyms: lang: en
text: SCARNA19
lang: en
text: TER
lang: en
text: TR
lang: en
text: TRC3
lang: en
text: hTR
lang: en
text: small Cajal body-specific RNA 19
GeneType: Name: Non-coding RNA
Rare disease: Primary myelofibrosis (Orphanet code 824)
Associated genes:
Name: Janus kinase 2
Symbol: JAK2
Synonyms: lang: en
text: JTK10
GeneType: Name: gene with protein product
Name: MPL proto-oncogene, thrombopoietin receptor
Symbol: MPL
Synonyms: lang: en
text: CD110
lang: en
text: THPOR
lang: en
text: TPOR
GeneType: Name: gene with protein product
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Name: calreticulin
Symbol: CALR
Synonyms: lang: en
text: CALR1
lang: en
text: CRT
lang: en
text: FLJ26680
lang: en
text: RO
lang: en
text: SSA
lang: en
text: Sicca syndrome antigen A (autoantigen Ro; calreticulin)
lang: en
text: autoantigen Ro
lang: en
text: cC1qR
lang: en
text: calregulin
GeneType: Name: gene with protein product
Rare disease: Polycythemia vera (Orphanet code 729)
Associated genes:
Name: Janus kinase 2
Symbol: JAK2
Synonyms: lang: en
text: JTK10
GeneType: Name: gene with protein product
Name: MPL proto-oncogene, thrombopoietin receptor
Symbol: MPL
Synonyms: lang: en
text: CD110
lang: en
text: THPOR
lang: en
text: TPOR
GeneType: Name: gene with protein product
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Rare disease: X-linked myopathy with excessive autophagy (Orphanet code 25980)
Associated genes:
Name: vacuolar ATPase assembly factor VMA21
Symbol: VMA21
Synonyms: lang: en
text: XMEA
GeneType: Name: gene with protein product
Rare disease: Hereditary diffuse gastric cancer (Orphanet code 26106)
Associated genes:
Name: cadherin 1
Symbol: CDH1
Synonyms: lang: en
text: CD324
lang: en
text: E-Cadherin
lang: en
text: uvomorulin
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase kinase kinase 6
Symbol: MAP3K6
Synonyms: lang: en
text: ASK2
lang: en
text: MAPKKK6
lang: en
text: MEKK6
lang: en
text: apoptosis signal regulating kinase 2
GeneType: Name: gene with protein product
Name: catenin alpha 1
Symbol: CTNNA1
Synonyms: lang: en
text: CAP102
lang: en
text: alpha-E-catenin
GeneType: Name: gene with protein product
Rare disease: Short chain acyl-CoA dehydrogenase deficiency (Orphanet code 26792)
Associated genes:
Name: acyl-CoA dehydrogenase short chain
Symbol: ACADS
Synonyms: lang: en
text: ACAD3
lang: en
text: SCAD
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant limb-girdle muscular dystrophy type 1A (Orphanet code 266)
Associated genes:
Name: myotilin
Symbol: MYOT
GeneType: Name: gene with protein product
Rare disease: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (Orphanet code 353)
Associated genes:
Name: sarcoglycan gamma
Symbol: SGCG
Synonyms: lang: en
text: 35kD dystrophin-associated glycoprotein
lang: en
text: A4
lang: en
text: DAGA4
lang: en
text: DMDA
lang: en
text: MGC130048
lang: en
text: Maghrebian myopathy (autosomal recessive)
lang: en
text: SCARMD2
lang: en
text: SCG3
lang: en
text: TYPE
lang: en
text: gamma sarcoglycan
lang: en
text: limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)
GeneType: Name: gene with protein product
Rare disease: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 (Orphanet code 219)
Associated genes:
Name: sarcoglycan delta
Symbol: SGCD
Synonyms: lang: en
text: CMD1L
lang: en
text: DAGD
lang: en
text: LGMD2F
GeneType: Name: gene with protein product
Rare disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 (Orphanet code 119)
Associated genes:
Name: sarcoglycan beta
Symbol: SGCB
Synonyms: lang: en
text: A3b
lang: en
text: SGC
GeneType: Name: gene with protein product
Rare disease: Distal myopathy, Welander type (Orphanet code 603)
Associated genes:
Name: TIA1 cytotoxic granule associated RNA binding protein
Symbol: TIA1
Synonyms: lang: en
text: Nucleolysin TIA-1 isoform p40
lang: en
text: T-cell-restricted intracellular antigen-1
lang: en
text: TIA-1
lang: en
text: nucleolysin TIA-1 isoform p40
GeneType: Name: gene with protein product
Name: sequestosome 1
Symbol: SQSTM1
Synonyms: lang: en
text: A170
lang: en
text: autophagy receptor p62
lang: en
text: p60
lang: en
text: p62
lang: en
text: p62B
GeneType: Name: gene with protein product
Name: TIA1 cytotoxic granule associated RNA binding protein
Symbol: TIA1
Synonyms: lang: en
text: Nucleolysin TIA-1 isoform p40
lang: en
text: T-cell-restricted intracellular antigen-1
lang: en
text: TIA-1
lang: en
text: nucleolysin TIA-1 isoform p40
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to GINS1 deficiency (Orphanet code 505227)
Associated genes:
Name: GINS complex subunit 1
Symbol: GINS1
Synonyms: lang: en
text: KIAA0186
lang: en
text: PSF1
GeneType: Name: gene with protein product
Rare disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (Orphanet code 505237)
Associated genes:
Name: OTU deubiquitinase 6B
Symbol: OTUD6B
Synonyms: lang: en
text: CGI-77
lang: en
text: DUBA5
GeneType: Name: gene with protein product
Rare disease: Muscle-eye-brain disease (Orphanet code 588)
Associated genes:
Name: CDP-L-ribitol pyrophosphorylase A
Symbol: CRPPA
Synonyms: lang: en
text: 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
lang: en
text: D-ribitol-5-phosphate cytidylyltransferase
lang: en
text: IspD
lang: en
text: Nip
lang: en
text: Notch1-induced protein
lang: en
text: hCG_1745121
lang: en
text: notch1-induced protein
GeneType: Name: gene with protein product
Name: LARGE xylosyl- and glucuronyltransferase 1
Symbol: LARGE1
Synonyms: lang: en
text: KIAA0609
lang: en
text: like-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Symbol: POMGNT1
Synonyms: lang: en
text: FLJ20277
lang: en
text: LGMD2O
lang: en
text: MGAT1.2
lang: en
text: protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Name: protein O-mannosyltransferase 1
Symbol: POMT1
Synonyms: lang: en
text: LGMD2K
lang: en
text: dolichyl-phosphate-mannose-protein mannosyltransferase
GeneType: Name: gene with protein product
Name: protein O-mannosyltransferase 2
Symbol: POMT2
Synonyms: lang: en
text: Dolichyl-phosphate-mannose--protein mannosyltransferase
lang: en
text: LGMD2N
GeneType: Name: gene with protein product
Name: fukutin
Symbol: FKTN
Synonyms: lang: en
text: LGMD2M
lang: en
text: Ribitol-5-phosphate transferase
GeneType: Name: gene with protein product
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
Name: beta-1,3-N-acetylgalactosaminyltransferase 2
Symbol: B3GALNT2
Synonyms: lang: en
text: MGC39558
GeneType: Name: gene with protein product
Name: GDP-mannose pyrophosphorylase B
Symbol: GMPPB
Synonyms: lang: en
text: KIAA1851
lang: en
text: mannose-1-phosphate guanyltransferase beta
GeneType: Name: gene with protein product
Rare disease: Walker-Warburg syndrome (Orphanet code 899)
Associated genes:
Name: collagen type IV alpha 1 chain
Symbol: COL4A1
GeneType: Name: gene with protein product
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Symbol: POMGNT1
Synonyms: lang: en
text: FLJ20277
lang: en
text: LGMD2O
lang: en
text: MGAT1.2
lang: en
text: protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Name: protein O-mannosyltransferase 1
Symbol: POMT1
Synonyms: lang: en
text: LGMD2K
lang: en
text: dolichyl-phosphate-mannose-protein mannosyltransferase
GeneType: Name: gene with protein product
Name: protein O-mannosyltransferase 2
Symbol: POMT2
Synonyms: lang: en
text: Dolichyl-phosphate-mannose--protein mannosyltransferase
lang: en
text: LGMD2N
GeneType: Name: gene with protein product
Name: fukutin
Symbol: FKTN
Synonyms: lang: en
text: LGMD2M
lang: en
text: Ribitol-5-phosphate transferase
GeneType: Name: gene with protein product
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
Name: LARGE xylosyl- and glucuronyltransferase 1
Symbol: LARGE1
Synonyms: lang: en
text: KIAA0609
lang: en
text: like-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Name: dystroglycan 1
Symbol: DAG1
Synonyms: lang: en
text: 156DAG
lang: en
text: A3a
lang: en
text: AGRNR
lang: en
text: DAG
lang: en
text: alpha-dystroglycan
lang: en
text: beta-dystroglycan
lang: en
text: dystrophin-associated glycoprotein-1
GeneType: Name: gene with protein product
Name: CDP-L-ribitol pyrophosphorylase A
Symbol: CRPPA
Synonyms: lang: en
text: 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
lang: en
text: D-ribitol-5-phosphate cytidylyltransferase
lang: en
text: IspD
lang: en
text: Nip
lang: en
text: Notch1-induced protein
lang: en
text: hCG_1745121
lang: en
text: notch1-induced protein
GeneType: Name: gene with protein product
Name: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Symbol: POMGNT2
Synonyms: lang: en
text: AGO61
lang: en
text: FLJ14566
lang: en
text: protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
GeneType: Name: gene with protein product
Name: ribitol xylosyltransferase 1
Symbol: RXYLT1
Synonyms: lang: en
text: HP10481
GeneType: Name: gene with protein product
Name: beta-1,3-N-acetylgalactosaminyltransferase 2
Symbol: B3GALNT2
Synonyms: lang: en
text: MGC39558
GeneType: Name: gene with protein product
Name: beta-1,4-glucuronyltransferase 1
Symbol: B4GAT1
Synonyms: lang: en
text: B3GN-T1
lang: en
text: BETA3GNTI
lang: en
text: IGnT
lang: en
text: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
lang: en
text: iGAT
lang: en
text: iGNT
lang: en
text: iGnT
GeneType: Name: gene with protein product
Name: protein O-mannose kinase
Symbol: POMK
Synonyms: lang: en
text: FLJ23356
lang: en
text: SGK196
lang: en
text: SgK196
GeneType: Name: gene with protein product
Rare disease: 3-methylglutaconic aciduria type 9 (Orphanet code 505216)
Associated genes:
Name: translocase of inner mitochondrial membrane 50
Symbol: TIMM50
Synonyms: lang: en
text: TIM50
lang: en
text: TIM50L
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy, Fukuyama type (Orphanet code 272)
Associated genes:
Name: fukutin
Symbol: FKTN
Synonyms: lang: en
text: LGMD2M
lang: en
text: Ribitol-5-phosphate transferase
GeneType: Name: gene with protein product
Rare disease: 3-methylglutaconic aciduria type 8 (Orphanet code 505208)
Associated genes:
Name: HtrA serine peptidase 2
Symbol: HTRA2
Synonyms: lang: en
text: OMI
lang: en
text: PARK13
GeneType: Name: gene with protein product
Rare disease: Dysferlin-related limb-girdle muscular dystrophy R2 (Orphanet code 268)
Associated genes:
Name: dysferlin
Symbol: DYSF
Synonyms: lang: en
text: FER1L1
lang: en
text: fer-1-like family member 1
GeneType: Name: gene with protein product
Rare disease: Vocal cord and pharyngeal distal myopathy (Orphanet code 600)
Associated genes:
Name: matrin 3
Symbol: MATR3
Synonyms: lang: en
text: KIAA0723
lang: en
text: MGC9105
lang: en
text: VCPDM
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (Orphanet code 505248)
Associated genes:
Name: VPS33A core subunit of CORVET and HOPS complexes
Symbol: VPS33A
GeneType: Name: gene with protein product