TaoMedAI/RareMedData huggingface dataset:
Rare disease: Familial congenital mirror movements (Orphanet code 238722)
Associated genes:
Name: dynein axonemal light chain 4
Symbol: DNAL4
Synonyms: lang: en
text: PIG27
lang: en
text: dJ327J16
GeneType: Name: gene with protein product
Name: RAD51 recombinase
Symbol: RAD51
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 5
lang: en
text: BRCC5
lang: en
text: FANCR
lang: en
text: HsRad51
lang: en
text: HsT16930
GeneType: Name: gene with protein product
Name: DCC netrin 1 receptor
Symbol: DCC
Synonyms: lang: en
text: IGDCC1
lang: en
text: NTN1R1
lang: en
text: immunoglobulin superfamily, DCC subclass, member 1
GeneType: Name: gene with protein product
Name: netrin 1
Symbol: NTN1
Synonyms: lang: en
text: NET1
lang: en
text: NTN1L
lang: en
text: Netrin-1
GeneType: Name: gene with protein product
Rare disease: 1q44 microdeletion syndrome (Orphanet code 238769)
Associated genes:
Name: heterogeneous nuclear ribonucleoprotein U
Symbol: HNRNPU
Synonyms: lang: en
text: FLJ30202
lang: en
text: FLJ37978
lang: en
text: SAF-A
lang: en
text: scaffold attachment factor A
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to CD27 deficiency (Orphanet code 238505)
Associated genes:
Name: CD27 molecule
Symbol: CD27
Synonyms: lang: en
text: CD27 antigen
lang: en
text: S152
lang: en
text: T-cell activation antigen S152
lang: en
text: Tp55
GeneType: Name: gene with protein product
Rare disease: Familial hypercholanemia (Orphanet code 238475)
Associated genes:
Name: epoxide hydrolase 1
Symbol: EPHX1
GeneType: Name: gene with protein product
Name: tight junction protein 2
Symbol: TJP2
Synonyms: lang: en
text: Friedreich ataxia region gene X104 (tight junction protein ZO-2)
lang: en
text: X104
lang: en
text: ZO-2
lang: en
text: ZO2
lang: en
text: zona occludens 2
GeneType: Name: gene with protein product
Name: bile acid-CoA:amino acid N-acyltransferase
Symbol: BAAT
Synonyms: lang: en
text: BAT
lang: en
text: glycine N-choloyltransferase
GeneType: Name: gene with protein product
Name: solute carrier family 10 member 1
Symbol: SLC10A1
Synonyms: lang: en
text: NTCP
lang: en
text: NTCP1
lang: en
text: Na+/taurocholate cotransporting polypeptide
GeneType: Name: gene with protein product
Rare disease: Infantile dystonia-parkinsonism (Orphanet code 238455)
Associated genes:
Name: solute carrier family 6 member 3
Symbol: SLC6A3
Synonyms: lang: en
text: DAT
lang: en
text: Sodium-dependent dopamine transporter
lang: en
text: dopamine transporter
GeneType: Name: gene with protein product
Rare disease: SLC35A1-CDG (Orphanet code 238459)
Associated genes:
Name: solute carrier family 35 member A1
Symbol: SLC35A1
Synonyms: lang: en
text: CMP-Sia-Tr
lang: en
text: CMP-sialic acid transporter
lang: en
text: CMPST
lang: en
text: hCST
GeneType: Name: gene with protein product
Rare disease: Familial clubfoot due to 17q23.1q23.2 microduplication (Orphanet code 238578)
Associated genes:
Name: T-box transcription factor 4
Symbol: TBX4
GeneType: Name: gene with protein product
Rare disease: Chuvash erythrocytosis (Orphanet code 238557)
Associated genes:
Name: von Hippel-Lindau tumor suppressor
Symbol: VHL
Synonyms: lang: en
text: VHL1
GeneType: Name: gene with protein product
Rare disease: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome (Orphanet code 238569)
Associated genes:
Name: interleukin 10
Symbol: IL10
Synonyms: lang: en
text: CSIF
lang: en
text: IL-10
lang: en
text: IL10A
lang: en
text: T-cell growth inhibitory factor
lang: en
text: TGIF
lang: en
text: cytokine synthesis inhibitory factor
GeneType: Name: gene with protein product
Name: interleukin 10 receptor subunit alpha
Symbol: IL10RA
Synonyms: lang: en
text: CD210
lang: en
text: CD210a
lang: en
text: CDW210A
lang: en
text: HIL-10R
GeneType: Name: gene with protein product
Name: interleukin 10 receptor subunit beta
Symbol: IL10RB
Synonyms: lang: en
text: CDW210B
lang: en
text: CRF2-4
lang: en
text: IL-10R2
GeneType: Name: gene with protein product
Rare disease: Atypical hypotonia-cystinuria syndrome (Orphanet code 238523)
Associated genes:
Name: solute carrier family 3 member 1
Symbol: SLC3A1
Synonyms: lang: en
text: ATR1
lang: en
text: CSNU1
lang: en
text: D2H
lang: en
text: NBAT
lang: en
text: RBAT
lang: en
text: amino acid transporter 1
lang: en
text: neutral and basic amino acid transport protein rBAT
GeneType: Name: gene with protein product
Name: prolyl endopeptidase like
Symbol: PREPL
Synonyms: lang: en
text: KIAA0436
GeneType: Name: gene with protein product
Name: calmodulin-lysine N-methyltransferase
Symbol: CAMKMT
Synonyms: lang: en
text: CLNMT
lang: en
text: CaM KMT
GeneType: Name: gene with protein product
Rare disease: Beckwith-Wiedemann syndrome due to NSD1 mutation (Orphanet code 238613)
Associated genes:
Name: nuclear receptor binding SET domain protein 1
Symbol: NSD1
Synonyms: lang: en
text: ARA267
lang: en
text: FLJ22263
lang: en
text: KMT3B
GeneType: Name: gene with protein product
Rare disease: Isolated thyrotropin-releasing hormone deficiency (Orphanet code 238670)
Associated genes:
Name: thyrotropin releasing hormone
Symbol: TRH
Synonyms: lang: en
text: prothyroliberin
GeneType: Name: gene with protein product
Rare disease: Classic progressive supranuclear palsy syndrome (Orphanet code 240071)
Associated genes:
Name: microtubule associated protein tau
Symbol: MAPT
Synonyms: lang: en
text: FLJ31424
lang: en
text: FTDP-17
lang: en
text: G protein beta1/gamma2 subunit-interacting factor 1
lang: en
text: MGC138549
lang: en
text: MSTD
lang: en
text: MTBT1
lang: en
text: MTBT2
lang: en
text: PPND
lang: en
text: PPP1R103
lang: en
text: TAU
lang: en
text: Tau-PHF6
lang: en
text: Tau-derived paired helical filament hexapeptide
lang: en
text: microtubule-associated protein tau, isoform 4
lang: en
text: protein phosphatase 1, regulatory subunit 103
lang: en
text: tau
lang: en
text: tau-40
GeneType: Name: gene with protein product
Rare disease: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome (Orphanet code 240112)
Associated genes:
Name: microtubule associated protein tau
Symbol: MAPT
Synonyms: lang: en
text: FLJ31424
lang: en
text: FTDP-17
lang: en
text: G protein beta1/gamma2 subunit-interacting factor 1
lang: en
text: MGC138549
lang: en
text: MSTD
lang: en
text: MTBT1
lang: en
text: MTBT2
lang: en
text: PPND
lang: en
text: PPP1R103
lang: en
text: TAU
lang: en
text: Tau-PHF6
lang: en
text: Tau-derived paired helical filament hexapeptide
lang: en
text: microtubule-associated protein tau, isoform 4
lang: en
text: protein phosphatase 1, regulatory subunit 103
lang: en
text: tau
lang: en
text: tau-40
GeneType: Name: gene with protein product
Rare disease: Progressive supranuclear palsy-corticobasal syndrome (Orphanet code 240103)
Associated genes:
Name: microtubule associated protein tau
Symbol: MAPT
Synonyms: lang: en
text: FLJ31424
lang: en
text: FTDP-17
lang: en
text: G protein beta1/gamma2 subunit-interacting factor 1
lang: en
text: MGC138549
lang: en
text: MSTD
lang: en
text: MTBT1
lang: en
text: MTBT2
lang: en
text: PPND
lang: en
text: PPP1R103
lang: en
text: TAU
lang: en
text: Tau-PHF6
lang: en
text: Tau-derived paired helical filament hexapeptide
lang: en
text: microtubule-associated protein tau, isoform 4
lang: en
text: protein phosphatase 1, regulatory subunit 103
lang: en
text: tau
lang: en
text: tau-40
GeneType: Name: gene with protein product
Rare disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome (Orphanet code 240094)
Associated genes:
Name: microtubule associated protein tau
Symbol: MAPT
Synonyms: lang: en
text: FLJ31424
lang: en
text: FTDP-17
lang: en
text: G protein beta1/gamma2 subunit-interacting factor 1
lang: en
text: MGC138549
lang: en
text: MSTD
lang: en
text: MTBT1
lang: en
text: MTBT2
lang: en
text: PPND
lang: en
text: PPP1R103
lang: en
text: TAU
lang: en
text: Tau-PHF6
lang: en
text: Tau-derived paired helical filament hexapeptide
lang: en
text: microtubule-associated protein tau, isoform 4
lang: en
text: protein phosphatase 1, regulatory subunit 103
lang: en
text: tau
lang: en
text: tau-40
GeneType: Name: gene with protein product
Rare disease: Progressive supranuclear palsy-predominant parkinsonism syndrome (Orphanet code 240085)
Associated genes:
Name: microtubule associated protein tau
Symbol: MAPT
Synonyms: lang: en
text: FLJ31424
lang: en
text: FTDP-17
lang: en
text: G protein beta1/gamma2 subunit-interacting factor 1
lang: en
text: MGC138549
lang: en
text: MSTD
lang: en
text: MTBT1
lang: en
text: MTBT2
lang: en
text: PPND
lang: en
text: PPP1R103
lang: en
text: TAU
lang: en
text: Tau-PHF6
lang: en
text: Tau-derived paired helical filament hexapeptide
lang: en
text: microtubule-associated protein tau, isoform 4
lang: en
text: protein phosphatase 1, regulatory subunit 103
lang: en
text: tau
lang: en
text: tau-40
GeneType: Name: gene with protein product
Rare disease: Nijmegen breakage syndrome-like disorder (Orphanet code 240760)
Associated genes:
Name: MRE11 homolog, double strand break repair nuclease
Symbol: MRE11
Synonyms: lang: en
text: AT-like disease
lang: en
text: ATLD
GeneType: Name: gene with protein product
Name: RAD50 double strand break repair protein
Symbol: RAD50
Synonyms: lang: en
text: RAD50-2
lang: en
text: hRad50
GeneType: Name: gene with protein product
Rare disease: Susceptibility to infection due to TYK2 deficiency (Orphanet code 331226)
Associated genes:
Name: tyrosine kinase 2
Symbol: TYK2
Synonyms: lang: en
text: JTK1
GeneType: Name: gene with protein product
Rare disease: Severe congenital neutropenia due to G6PC3 deficiency (Orphanet code 331176)
Associated genes:
Name: glucose-6-phosphatase catalytic subunit 3
Symbol: G6PC3
Synonyms: lang: en
text: UGRP
lang: en
text: Ubiquitous glucose-6-phosphatase catalytic subunit-related protein
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency due to MASP-2 deficiency (Orphanet code 331187)
Associated genes:
Name: MBL associated serine protease 2
Symbol: MASP2
Synonyms: lang: en
text: MAP-2
lang: en
text: Map19
lang: en
text: mannose-binding lectin associated protein 19
lang: en
text: mannose-binding lectin-associated serine protease 2
lang: en
text: sMAP
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency due to ficolin3 deficiency (Orphanet code 331190)
Associated genes:
Name: ficolin 3
Symbol: FCN3
Synonyms: lang: en
text: FCNH
lang: en
text: HAKA1
lang: en
text: Hakata antigen
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to complete RAG1/2 deficiency (Orphanet code 331206)
Associated genes:
Name: recombination activating 1
Symbol: RAG1
Synonyms: lang: en
text: MGC43321
lang: en
text: RING finger protein 74
lang: en
text: RNF74
lang: en
text: V(D)J recombination-activating protein 1
lang: en
text: recombination activating protein 1
GeneType: Name: gene with protein product
Name: recombination activating 2
Symbol: RAG2
GeneType: Name: gene with protein product
Rare disease: Hemoglobin Lepore-beta-thalassemia syndrome (Orphanet code 330032)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Name: hemoglobin subunit delta
Symbol: HBD
Synonyms: lang: en
text: HBK
GeneType: Name: gene with protein product
Rare disease: Hemoglobin M disease (Orphanet code 330041)
Associated genes:
Name: hemoglobin subunit alpha 2
Symbol: HBA2
Synonyms: lang: en
text: HBA-T2
GeneType: Name: gene with protein product
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Name: hemoglobin subunit alpha 1
Symbol: HBA1
Synonyms: lang: en
text: HBA-T3
GeneType: Name: gene with protein product
Rare disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet code 330050)
Associated genes:
Name: dynamin 1 like
Symbol: DNM1L
Synonyms: lang: en
text: DRP1
lang: en
text: DVLP
lang: en
text: DYMPLE
lang: en
text: HDYNIV
lang: en
text: VPS1
GeneType: Name: gene with protein product
Rare disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome (Orphanet code 330054)
Associated genes:
Name: growth factor, augmenter of liver regeneration
Symbol: GFER
Synonyms: lang: en
text: ALR
lang: en
text: ERV1
lang: en
text: ERV1 homolog (S. cerevisiae)
lang: en
text: FAD-linked sulfhydryl oxidase ALR
lang: en
text: HERV1
lang: en
text: HPO1
lang: en
text: HPO2
lang: en
text: HSS
lang: en
text: hepatic regenerative stimulation substance
GeneType: Name: gene with protein product
Rare disease: 5p13 microduplication syndrome (Orphanet code 329802)
Associated genes:
Name: NIPBL cohesin loading factor
Symbol: NIPBL
Synonyms: lang: en
text: DKFZp434L1319
lang: en
text: FLJ11203
lang: en
text: FLJ12597
lang: en
text: FLJ13354
lang: en
text: FLJ13648
lang: en
text: IDN3
lang: en
text: Scc2
lang: en
text: sister chromatid cohesion 2 homolog (yeast)
GeneType: Name: gene with protein product
Rare disease: Spastic paraplegia-Paget disease of bone syndrome (Orphanet code 329475)
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: Lipoprotein glomerulopathy (Orphanet code 329481)
Associated genes:
Name: apolipoprotein E
Symbol: APOE
GeneType: Name: gene with protein product
Rare disease: Adult-onset distal myopathy due to VCP mutation (Orphanet code 329478)
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: C3 glomerulonephritis (Orphanet code 329931)
Associated genes:
Name: complement factor H related 1
Symbol: CFHR1
Synonyms: lang: en
text: CFHL
lang: en
text: FHR1
lang: en
text: H36-1
lang: en
text: H36-2
GeneType: Name: gene with protein product
Name: complement factor H related 5
Symbol: CFHR5
Synonyms: lang: en
text: FHR-5
lang: en
text: FHR5
lang: en
text: Factor H related protein 5
lang: en
text: factor H related protein 5
GeneType: Name: gene with protein product
Name: complement factor H related 3
Symbol: CFHR3
Synonyms: lang: en
text: DOWN16
lang: en
text: FHR-3
lang: en
text: FHR3
lang: en
text: HLF4
GeneType: Name: gene with protein product
Name: complement factor H related 2
Symbol: CFHR2
Synonyms: lang: en
text: FHR2
GeneType: Name: gene with protein product
Rare disease: Generalized juvenile polyposis/juvenile polyposis coli (Orphanet code 329971)
Associated genes:
Name: bone morphogenetic protein receptor type 1A
Symbol: BMPR1A
Synonyms: lang: en
text: ALK3
lang: en
text: CD292
GeneType: Name: gene with protein product
Name: endoglin
Symbol: ENG
Synonyms: lang: en
text: CD105
lang: en
text: END
lang: en
text: HHT1
GeneType: Name: gene with protein product
Name: SMAD family member 4
Symbol: SMAD4
Synonyms: lang: en
text: DPC4
GeneType: Name: gene with protein product
Rare disease: Intermittent hydrarthrosis (Orphanet code 329967)
Associated genes:
Name: MEFV innate immunity regulator, pyrin
Symbol: MEFV
Synonyms: lang: en
text: FMF
lang: en
text: TRIM20
lang: en
text: marenostrin
GeneType: Name: gene with protein product
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: Immunoglobulin-mediated membranoproliferative glomerulonephritis (Orphanet code 329903)
Associated genes:
Name: complement factor H
Symbol: CFH
Synonyms: lang: en
text: ARMD4
lang: en
text: ARMS1
lang: en
text: FHL1
lang: en
text: H factor 2 (complement)
lang: en
text: HUS
lang: en
text: age-related maculopathy susceptibility 1
lang: en
text: beta-1H
GeneType: Name: gene with protein product
Name: diacylglycerol kinase epsilon
Symbol: DGKE
Synonyms: lang: en
text: DAGK6
lang: en
text: DGK
GeneType: Name: gene with protein product
Rare disease: Fatty acid hydroxylase-associated neurodegeneration (Orphanet code 329308)
Associated genes:
Name: fatty acid 2-hydroxylase
Symbol: FA2H
Synonyms: lang: en
text: FAAH
lang: en
text: FLJ25287
lang: en
text: Fatty acid alpha-hydroxylase
lang: en
text: fatty acid hydroxylase
GeneType: Name: gene with protein product
Rare disease: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet code 329314)
Associated genes:
Name: deoxyguanosine kinase
Symbol: DGUOK
Synonyms: lang: en
text: dGK
GeneType: Name: gene with protein product
Rare disease: Thrombocythemia with distal limb defects (Orphanet code 329319)
Associated genes:
Name: thrombopoietin
Symbol: THPO
Synonyms: lang: en
text: MPL ligand
lang: en
text: MPLLG
lang: en
text: TPO
lang: en
text: c-mpl ligand
lang: en
text: megakaryocyte colony-stimulating factor
lang: en
text: megakaryocyte growth and development factor
lang: en
text: megakaryocyte stimulating factor
lang: en
text: myeloproliferative leukemia virus oncogene ligand
lang: en
text: prepro-thrombopoietin
lang: en
text: thrombopoietin nirs
GeneType: Name: gene with protein product
Rare disease: Beta-propeller protein-associated neurodegeneration (Orphanet code 329284)
Associated genes:
Name: WD repeat domain 45
Symbol: WDR45
Synonyms: lang: en
text: JM5
lang: en
text: NBIA5
lang: en
text: WIPI4
lang: en
text: neurodegeneration with brain iron accumulation 5
GeneType: Name: gene with protein product
Rare disease: Distal arthrogryposis type 5D (Orphanet code 329457)
Associated genes:
Name: endothelin converting enzyme like 1
Symbol: ECEL1
Synonyms: lang: en
text: DINE
lang: en
text: Damage induced neuronal endopeptidase
lang: en
text: XCE
lang: en
text: damage induced neuronal endopeptidase
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant focal dystonia, DYT25 type (Orphanet code 329466)
Associated genes:
Name: G protein subunit alpha L
Symbol: GNAL
GeneType: Name: gene with protein product
Rare disease: Acute megakaryoblastic leukemia in children without Down syndrome (Orphanet code 329469)
Associated genes:
Name: GLIS family zinc finger 2
Symbol: GLIS2
Synonyms: lang: en
text: Gli-similar 2
lang: en
text: NPHP7
lang: en
text: nephrocystin-7
GeneType: Name: gene with protein product
Name: CBFA2/RUNX1 partner transcriptional co-repressor 3
Symbol: CBFA2T3
Synonyms: lang: en
text: ETO2
lang: en
text: MTG16
lang: en
text: MTGR2
lang: en
text: Myeloid translocation gene 8 and 16b
lang: en
text: RUNX1T3
lang: en
text: ZMYND4
lang: en
text: myeloid translocation gene 8 and 16b
GeneType: Name: gene with protein product
Rare disease: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (Orphanet code 329336)
Associated genes:
Name: ribonucleotide reductase regulatory TP53 inducible subunit M2B
Symbol: RRM2B
Synonyms: lang: en
text: p53R2
GeneType: Name: gene with protein product
Name: ribonuclease H1
Symbol: RNASEH1
Synonyms: lang: en
text: RNase H1
GeneType: Name: gene with protein product
Rare disease: Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet code 329228)
Associated genes:
Name: zinc finger protein 335
Symbol: ZNF335
Synonyms: lang: en
text: NIF-1
lang: en
text: NRC-interacting factor 1
lang: en
text: bA465L10.2
GeneType: Name: gene with protein product
Rare disease: Schuurs-Hoeijmakers syndrome (Orphanet code 329224)
Associated genes:
Name: phosphofurin acidic cluster sorting protein 1
Symbol: PACS1
Synonyms: lang: en
text: FLJ10209
lang: en
text: KIAA1175
GeneType: Name: gene with protein product
Rare disease: Cerebral sinovenous thrombosis (Orphanet code 329217)
Associated genes:
Name: coagulation factor II, thrombin
Symbol: F2
Synonyms: lang: en
text: prepro-coagulation factor II
GeneType: Name: gene with protein product
Name: coagulation factor V
Symbol: F5
GeneType: Name: gene with protein product
Name: protein Z, vitamin K dependent plasma glycoprotein
Symbol: PROZ
Synonyms: lang: en
text: PZ
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant neovascular inflammatory vitreoretinopathy (Orphanet code 329211)
Associated genes:
Name: calpain 5
Symbol: CAPN5
Synonyms: lang: en
text: ADNIV
lang: en
text: HTRA3
lang: en
text: nCL-3
GeneType: Name: gene with protein product
Rare disease: Developmental delay with autism spectrum disorder and gait instability (Orphanet code 329195)
Associated genes:
Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
Symbol: HERC2
Synonyms: lang: en
text: D15F37S1
lang: en
text: jdf2
lang: en
text: p528
GeneType: Name: gene with protein product
Rare disease: Tall stature-long halluces-multiple extra-epiphyses syndrome (Orphanet code 329191)
Associated genes:
Name: natriuretic peptide receptor 2
Symbol: NPR2
Synonyms: lang: en
text: ANPb
lang: en
text: GC-B
lang: en
text: GUCY2B
lang: en
text: guanylate cyclase 2B
lang: en
text: guanylyl cyclase B
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet code 329178)
Associated genes:
Name: dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Symbol: DPM2
Synonyms: lang: en
text: DPM synthase complex subunit
lang: en
text: MGC111193
lang: en
text: MGC21559
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Q (Orphanet code 329258)
Associated genes:
Name: dehydrogenase E1 and transketolase domain containing 1
Symbol: DHTKD1
Synonyms: lang: en
text: 2-oxoadipate dehydrogenase complex component E1
lang: en
text: CMT2Q
lang: en
text: DKFZP762M115
lang: en
text: E1a
lang: en
text: KIAA1630
lang: en
text: MGC3090
lang: en
text: OADC-E1
lang: en
text: OADH-E1
GeneType: Name: gene with protein product
Rare disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (Orphanet code 329249)
Associated genes:
Name: SH2B adaptor protein 1
Symbol: SH2B1
Synonyms: lang: en
text: FLJ30542
lang: en
text: SH2-B homolog
lang: en
text: SH2B
GeneType: Name: gene with protein product
Rare disease: Congenital chronic diarrhea with protein-losing enteropathy (Orphanet code 329242)
Associated genes:
Name: plasmalemma vesicle associated protein
Symbol: PLVAP
Synonyms: lang: en
text: FELS
lang: en
text: PV-1
lang: en
text: PV1
lang: en
text: fenestrated-endothelial linked structure protein; PV-1 protein
lang: en
text: gp68
GeneType: Name: gene with protein product
Name: diacylglycerol O-acyltransferase 1
Symbol: DGAT1
Synonyms: lang: en
text: ARGP1
lang: en
text: DGAT
GeneType: Name: gene with protein product
Rare disease: X-linked central congenital hypothyroidism with late-onset testicular enlargement (Orphanet code 329235)
Associated genes:
Name: immunoglobulin superfamily member 1
Symbol: IGSF1
Synonyms: lang: en
text: IGCD1
lang: en
text: IGDC1
lang: en
text: INHBP
lang: en
text: KIAA0364
lang: en
text: MGC75490
lang: en
text: PGSF2
GeneType: Name: gene with protein product
Rare disease: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (Orphanet code 329173)
Associated genes:
Name: RANBP2-type and C3HC4-type zinc finger containing 1
Symbol: RBCK1
Synonyms: lang: en
text: HOIL1
lang: en
text: RBCK2
lang: en
text: RNF54
lang: en
text: UBCE7IP3
lang: en
text: XAP4
lang: en
text: ZRANB4
lang: en
text: heme-oxidized IRP2 ubiquitin ligase 1
GeneType: Name: gene with protein product
Name: ring finger protein 31
Symbol: RNF31
Synonyms: lang: en
text: FLJ10111
lang: en
text: FLJ23501
lang: en
text: HOIL-1-interacting protein
lang: en
text: HOIP
lang: en
text: Paul
lang: en
text: ZIBRA
GeneType: Name: gene with protein product
Rare disease: Congenital factor XI deficiency (Orphanet code 329)
Associated genes:
Name: coagulation factor XI
Symbol: F11
Synonyms: lang: en
text: FXI
lang: en
text: plasma thromboplastin antecedent
GeneType: Name: gene with protein product