TaoMedAI/RareMedData huggingface dataset:
Rare disease: Short stature-optic atrophy-Pelger-Huët anomaly syndrome (Orphanet code 391677)
Associated genes:
Name: NBAS subunit of NRZ tethering complex
Symbol: NBAS
Synonyms: lang: en
text: NAG
GeneType: Name: gene with protein product
Rare disease: Frontorhiny (Orphanet code 391474)
Associated genes:
Name: ALX homeobox 3
Symbol: ALX3
GeneType: Name: gene with protein product
Rare disease: Adult-onset myasthenia gravis (Orphanet code 391490)
Associated genes:
Name: TNF receptor superfamily member 11a
Symbol: TNFRSF11A
Synonyms: lang: en
text: CD265
lang: en
text: FEO
lang: en
text: ODFR
lang: en
text: RANK
lang: en
text: TRANCE receptor
lang: en
text: TRANCE-R
lang: en
text: familial expansile osteolysis
lang: en
text: osteoclast differentiation factor receptor
lang: en
text: receptor activator of nuclear factor kappa B
GeneType: Name: gene with protein product
Name: cytotoxic T-lymphocyte associated protein 4
Symbol: CTLA4
Synonyms: lang: en
text: CD
lang: en
text: CD152
lang: en
text: CTLA-4
lang: en
text: GSE
lang: en
text: celiac disease
lang: en
text: gluten-sensitive enteropathy
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DQ alpha 1
Symbol: HLA-DQA1
Synonyms: lang: en
text: CELIAC1
GeneType: Name: gene with protein product
Rare disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (Orphanet code 391487)
Associated genes:
Name: target of myb1 membrane trafficking protein
Symbol: TOM1
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 1
Symbol: STAT1
Synonyms: lang: en
text: ISGF-3
lang: en
text: STAT91
lang: en
text: transcription factor ISGF-3 components p91/p84
GeneType: Name: gene with protein product
Rare disease: Feingold syndrome type 2 (Orphanet code 391646)
Associated genes:
Name: miR-17-92a-1 cluster host gene
Symbol: MIR17HG
Synonyms: lang: en
text: FLJ14178
lang: en
text: LINC00048
lang: en
text: MIHG1
lang: en
text: MIRH1
lang: en
text: NCRNA00048
lang: en
text: long intergenic non-protein coding RNA 48
lang: en
text: miR-17-92
lang: en
text: non-protein coding RNA 48
GeneType: Name: Non-coding RNA
Rare disease: Feingold syndrome type 1 (Orphanet code 391641)
Associated genes:
Name: MYCN proto-oncogene, bHLH transcription factor
Symbol: MYCN
Synonyms: lang: en
text: MYCNOT
lang: en
text: N-myc
lang: en
text: bHLHe37
GeneType: Name: gene with protein product
Rare disease: Homozygous familial hypercholesterolemia (Orphanet code 391665)
Associated genes:
Name: ATP binding cassette subfamily G member 5
Symbol: ABCG5
Synonyms: lang: en
text: STSL
lang: en
text: sterolin 1
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily G member 8
Symbol: ABCG8
Synonyms: lang: en
text: GBD4
lang: en
text: gallbladder disease 4
lang: en
text: sterolin 2
GeneType: Name: gene with protein product
Name: apolipoprotein B
Symbol: APOB
Synonyms: lang: en
text: ApoB-100
GeneType: Name: gene with protein product
Name: low density lipoprotein receptor adaptor protein 1
Symbol: LDLRAP1
Synonyms: lang: en
text: ARH
lang: en
text: ARH2
lang: en
text: DKFZp586D0624
lang: en
text: FHCB1
lang: en
text: FHCB2
lang: en
text: MGC34705
lang: en
text: autosomal recessive hypercholesterolemia
GeneType: Name: gene with protein product
Name: proprotein convertase subtilisin/kexin type 9
Symbol: PCSK9
Synonyms: lang: en
text: FH3
lang: en
text: NARC-1
GeneType: Name: gene with protein product
Name: low density lipoprotein receptor
Symbol: LDLR
Synonyms: lang: en
text: LDLCQ2
lang: en
text: familial hypercholesterolemia
GeneType: Name: gene with protein product
Rare disease: Fatal post-viral neurodegenerative disorder (Orphanet code 391343)
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
Rare disease: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome (Orphanet code 391348)
Associated genes:
Name: sideroflexin 4
Symbol: SFXN4
Synonyms: lang: en
text: SLC56A4
GeneType: Name: gene with protein product
Rare disease: SURF1-related Charcot-Marie-Tooth disease type 4 (Orphanet code 391351)
Associated genes:
Name: SURF1 cytochrome c oxidase assembly factor
Symbol: SURF1
Synonyms: lang: en
text: SHY1
lang: en
text: surfeit locus protein 1
GeneType: Name: gene with protein product
Rare disease: Growth retardation-mild developmental delay-chronic hepatitis syndrome (Orphanet code 391366)
Associated genes:
Name: SH2B adaptor protein 3
Symbol: SH2B3
Synonyms: lang: en
text: IDDM20
lang: en
text: LNK
lang: en
text: lymphocyte adaptor protein
GeneType: Name: gene with protein product
Rare disease: FOXP1 Syndrome (Orphanet code 391372)
Associated genes:
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
Rare disease: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome (Orphanet code 391376)
Associated genes:
Name: asparagine synthetase (glutamine-hydrolyzing)
Symbol: ASNS
GeneType: Name: gene with protein product
Rare disease: Familial episodic pain syndrome with predominantly upper body involvement (Orphanet code 391389)
Associated genes:
Name: transient receptor potential cation channel subfamily A member 1
Symbol: TRPA1
GeneType: Name: gene with protein product
Rare disease: Familial episodic pain syndrome with predominantly lower limb involvement (Orphanet code 391392)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 11
Symbol: SCN11A
Synonyms: lang: en
text: NaN
lang: en
text: Nav1.9
lang: en
text: SNS-2
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory and autonomic neuropathy type 7 (Orphanet code 391397)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 11
Symbol: SCN11A
Synonyms: lang: en
text: NaN
lang: en
text: Nav1.9
lang: en
text: SNS-2
GeneType: Name: gene with protein product
Rare disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (Orphanet code 391408)
Associated genes:
Name: protein phosphatase 1 regulatory subunit 15B
Symbol: PPP1R15B
Synonyms: lang: en
text: FLJ14744
GeneType: Name: gene with protein product
Name: tRNA methyltransferase 10A
Symbol: TRMT10A
Synonyms: lang: en
text: MGC27034
lang: en
text: TRM10
GeneType: Name: gene with protein product
Rare disease: Atypical juvenile parkinsonism (Orphanet code 391411)
Associated genes:
Name: podocalyxin like
Symbol: PODXL
Synonyms: lang: en
text: Gp200
lang: en
text: PC
lang: en
text: PCLP
lang: en
text: PDX
lang: en
text: PODXL1
lang: en
text: gp135
GeneType: Name: gene with protein product
Name: DnaJ heat shock protein family (Hsp40) member C6
Symbol: DNAJC6
Synonyms: lang: en
text: KIAA0473
lang: en
text: PARK19
lang: en
text: auxilin
GeneType: Name: gene with protein product
Name: synaptojanin 1
Symbol: SYNJ1
Synonyms: lang: en
text: INPP5G
lang: en
text: PARK20
lang: en
text: inositol polyphosphate-5-phosphatase G
lang: en
text: phosphoinositide 5-phosphatase
lang: en
text: synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
GeneType: Name: gene with protein product
Rare disease: HSD10 disease, infantile type (Orphanet code 391428)
Associated genes:
Name: hydroxysteroid 17-beta dehydrogenase 10
Symbol: HSD17B10
Synonyms: lang: en
text: 17b-HSD10
lang: en
text: AB-binding alcohol dehydrogenase
lang: en
text: ABAD
lang: en
text: CAMR
lang: en
text: ERAB
lang: en
text: MHBD
lang: en
text: MRPP2
lang: en
text: SDR5C1
lang: en
text: mitochondrial RNase P subunit 2
lang: en
text: short chain dehydrogenase/reductase family 5C, member 1
lang: en
text: type 10 17b-HSD
lang: en
text: type 10 17beta-hydroxysteroid dehydrogenase
GeneType: Name: gene with protein product
Rare disease: HSD10 disease, neonatal type (Orphanet code 391457)
Associated genes:
Name: hydroxysteroid 17-beta dehydrogenase 10
Symbol: HSD17B10
Synonyms: lang: en
text: 17b-HSD10
lang: en
text: AB-binding alcohol dehydrogenase
lang: en
text: ABAD
lang: en
text: CAMR
lang: en
text: ERAB
lang: en
text: MHBD
lang: en
text: MRPP2
lang: en
text: SDR5C1
lang: en
text: mitochondrial RNase P subunit 2
lang: en
text: short chain dehydrogenase/reductase family 5C, member 1
lang: en
text: type 10 17b-HSD
lang: en
text: type 10 17beta-hydroxysteroid dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (Orphanet code 391307)
Associated genes:
Name: TELO2 interacting protein 2
Symbol: TTI2
Synonyms: lang: en
text: FLJ23263
GeneType: Name: gene with protein product
Rare disease: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (Orphanet code 391316)
Associated genes:
Name: tyrosine kinase non receptor 2
Symbol: TNK2
Synonyms: lang: en
text: ACK
lang: en
text: ACK1
lang: en
text: activated Cdc42-associated kinase 1
lang: en
text: p21cdc42Hs
GeneType: Name: gene with protein product
Rare disease: Susceptibility to viral and mycobacterial infections due to STAT1 deficiency (Orphanet code 391311)
Associated genes:
Name: signal transducer and activator of transcription 1
Symbol: STAT1
Synonyms: lang: en
text: ISGF-3
lang: en
text: STAT91
lang: en
text: transcription factor ISGF-3 components p91/p84
GeneType: Name: gene with protein product
Rare disease: East Texas bleeding disorder (Orphanet code 391320)
Associated genes:
Name: coagulation factor V
Symbol: F5
GeneType: Name: gene with protein product
Rare disease: X-linked osteoporosis with fractures (Orphanet code 391330)
Associated genes:
Name: plastin 3
Symbol: PLS3
Synonyms: lang: en
text: T-plastin
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome (Orphanet code 397973)
Associated genes:
Name: TBC1 domain family member 2B
Symbol: TBC1D2B
Synonyms: lang: en
text: KIAA1055
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 2R (Orphanet code 397968)
Associated genes:
Name: tripartite motif containing 2
Symbol: TRIM2
Synonyms: lang: en
text: CMT2R
lang: en
text: Charcot-Marie-Tooth disease, type 2R
lang: en
text: KIAA0517
lang: en
text: RING finger protein 86
lang: en
text: RNF86
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to MALT1 deficiency (Orphanet code 397964)
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
Rare disease: TCR-alpha-beta-positive T-cell deficiency (Orphanet code 397959)
Associated genes:
Name: T-cell receptor alpha constant
Symbol: TRAC
GeneType: Name: gene with protein product
Rare disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (Orphanet code 397951)
Associated genes:
Name: TATA-box binding protein associated factor 2
Symbol: TAF2
Synonyms: lang: en
text: CIF150
lang: en
text: TAFII150
GeneType: Name: gene with protein product
Rare disease: Autosomal spastic paraplegia type 58 (Orphanet code 397946)
Associated genes:
Name: kinesin family member 1C
Symbol: KIF1C
Synonyms: lang: en
text: SPAX2
lang: en
text: SPG58
GeneType: Name: gene with protein product
Rare disease: MAN1B1-CDG (Orphanet code 397941)
Associated genes:
Name: mannosidase alpha class 1B member 1
Symbol: MAN1B1
Synonyms: lang: en
text: Alpha 1,2-mannosidase
lang: en
text: ER alpha 1,2-mannosidase
lang: en
text: ERMan1
lang: en
text: ERManI
lang: en
text: Endoplasmic reticulum alpha-mannosidase 1
lang: en
text: Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
lang: en
text: MANA-ER
lang: en
text: MRT15
lang: en
text: Man9GlcNAc2-specific processing alpha-mannosidase
lang: en
text: alpha 1,2-mannosidase
lang: en
text: endoplasmic Reticulum Class I alpha-mannosidase
lang: en
text: endoplasmic reticulum alpha-mannosidase 1
lang: en
text: endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
GeneType: Name: gene with protein product
Rare disease: Polyglucosan body myopathy type 1 (Orphanet code 397937)
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
Rare disease: Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (Orphanet code 397933)
Associated genes:
Name: IQ motif and Sec7 domain ArfGEF 2
Symbol: IQSEC2
Synonyms: lang: en
text: BRAG1
lang: en
text: IQ-ArfGEF
lang: en
text: KIAA0522
lang: en
text: brefeldin A resistant Arf-guanine nucleotide exchange factor 1
GeneType: Name: gene with protein product
Rare disease: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome (Orphanet code 397927)
Associated genes:
Name: T-box transcription factor T
Symbol: TBXT
GeneType: Name: gene with protein product
Rare disease: Ferro-cerebro-cutaneous syndrome (Orphanet code 397922)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class A
Symbol: PIGA
Synonyms: lang: en
text: GPI3
lang: en
text: GPI3 (SPT14) homolog (S. cerevisiae)
lang: en
text: PIG-A
lang: en
text: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
lang: en
text: paroxysmal nocturnal hemoglobinuria
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to IKK2 deficiency (Orphanet code 397787)
Associated genes:
Name: inhibitor of nuclear factor kappa B kinase subunit beta
Symbol: IKBKB
Synonyms: lang: en
text: IKK-beta
lang: en
text: IKK2
lang: en
text: IKKB
lang: en
text: NFKBIKB
GeneType: Name: gene with protein product
Rare disease: Periodic paralysis with transient compartment-like syndrome (Orphanet code 397755)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 S
Symbol: CACNA1S
Synonyms: lang: en
text: Cav1.1
lang: en
text: hypoPP
GeneType: Name: gene with protein product
Rare disease: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (Orphanet code 397758)
Associated genes:
Name: integral membrane protein 2B
Symbol: ITM2B
Synonyms: lang: en
text: BRI
lang: en
text: BRI2
lang: en
text: BRICD2B
lang: en
text: BRICHOS domain containing 2B
lang: en
text: E25B
lang: en
text: E3-16
GeneType: Name: gene with protein product
Rare disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome (Orphanet code 397744)
Associated genes:
Name: myosin heavy chain 14
Symbol: MYH14
Synonyms: lang: en
text: FLJ13881
lang: en
text: KIAA2034
lang: en
text: MHC16
lang: en
text: MYH17
GeneType: Name: gene with protein product
Rare disease: Periodic paralysis with later-onset distal motor neuropathy (Orphanet code 397750)
Associated genes:
Name: mitochondrially encoded ATP synthase membrane subunit 6
Symbol: MT-ATP6
Synonyms: lang: en
text: ATP6
lang: en
text: ATPase-6
lang: en
text: Su6m
lang: en
text: mitochondrially encoded ATP synthase membrane subunit a
GeneType: Name: gene with protein product
Name: mitochondrially encoded ATP synthase membrane subunit 8
Symbol: MT-ATP8
Synonyms: lang: en
text: A6L
lang: en
text: ATP8
lang: en
text: URFA6L
lang: en
text: mitochondrially encoded ATP synthase membrane subunit A6L
GeneType: Name: gene with protein product
Rare disease: COASY protein-associated neurodegeneration (Orphanet code 397725)
Associated genes:
Name: Coenzyme A synthase
Symbol: COASY
Synonyms: lang: en
text: CoASY
lang: en
text: DPCK
lang: en
text: NBP
lang: en
text: PPAT
lang: en
text: bifunctional Coenzyme A synthase
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2U (Orphanet code 397735)
Associated genes:
Name: methionyl-tRNA synthetase 1
Symbol: MARS1
Synonyms: lang: en
text: CMT2U
lang: en
text: MetRS
lang: en
text: Methionine--tRNA ligase, cytoplasmic
lang: en
text: SPG70
lang: en
text: methionine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome (Orphanet code 397709)
Associated genes:
Name: sorting nexin 14
Symbol: SNX14
Synonyms: lang: en
text: RGS-PX2
GeneType: Name: gene with protein product
Rare disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (Orphanet code 397715)
Associated genes:
Name: centrosome and spindle pole associated protein 1
Symbol: CSPP1
Synonyms: lang: en
text: CSPP
lang: en
text: CSPP-L
lang: en
text: FLJ22490
lang: en
text: JBTS21
GeneType: Name: gene with protein product
Name: KIAA0586
Symbol: KIAA0586
Synonyms: lang: en
text: JBTS23
lang: en
text: Talpid3
GeneType: Name: gene with protein product
Rare disease: Hereditary isolated aplastic anemia (Orphanet code 397692)
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
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: ACD shelterin complex subunit and telomerase recruitment factor
Symbol: ACD
Synonyms: lang: en
text: POT1 and TIN2 organizing protein
lang: en
text: Pip1
lang: en
text: Ptop
lang: en
text: TIN2 interacting protein 1
lang: en
text: Tint1
lang: en
text: Tpp1
GeneType: Name: gene with protein product
Rare disease: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome (Orphanet code 397623)
Associated genes:
Name: goosecoid homeobox
Symbol: GSC
Synonyms: lang: en
text: GSC1
GeneType: Name: gene with protein product
Rare disease: Familial hyperprolactinemia (Orphanet code 397685)
Associated genes:
Name: prolactin receptor
Symbol: PRLR
GeneType: Name: gene with protein product
Rare disease: Obesity due to CEP19 deficiency (Orphanet code 397615)
Associated genes:
Name: centrosomal protein 19
Symbol: CEP19
Synonyms: lang: en
text: MGC14126
GeneType: Name: gene with protein product
Rare disease: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome (Orphanet code 397618)
Associated genes:
Name: solute carrier family 38 member 8
Symbol: SLC38A8
Synonyms: lang: en
text: Putative sodium-coupled neutral amino acid transporter 8
lang: en
text: SNAT8
GeneType: Name: gene with protein product
Rare disease: Activated PI3K-delta syndrome (Orphanet code 397596)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: phosphoinositide-3-kinase regulatory subunit 1
Symbol: PIK3R1
Synonyms: lang: en
text: GRB1
lang: en
text: PI3 kinase-associated p85
lang: en
text: growth factor receptor bound 1
lang: en
text: p85
lang: en
text: p85-ALPHA
lang: en
text: p85alpha
lang: en
text: phosphoinositide-3-kinase regulatory subunit alpha
GeneType: Name: gene with protein product
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Symbol: PIK3CD
Synonyms: lang: en
text: p110D
lang: en
text: phosphatidylinositol 3-kinase, catalytic, delta polypeptide
lang: en
text: phosphoinositide-3-kinase C
GeneType: Name: gene with protein product
Rare disease: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (Orphanet code 397593)
Associated genes:
Name: LYR motif containing 4
Symbol: LYRM4
Synonyms: lang: en
text: CGI-203
lang: en
text: ISD11
GeneType: Name: gene with protein product
Name: NFS1 cysteine desulfurase
Symbol: NFS1
Synonyms: lang: en
text: IscS
lang: en
text: NifS
GeneType: Name: gene with protein product
Rare disease: Macrocephaly-developmental delay syndrome (Orphanet code 397612)
Associated genes:
Name: kaptin, actin binding protein
Symbol: KPTN
Synonyms: lang: en
text: 2E4
lang: en
text: KICS4
GeneType: Name: gene with protein product
Rare disease: PrP systemic amyloidosis (Orphanet code 397606)
Associated genes:
Name: prion protein (Kanno blood group)
Symbol: PRNP
Synonyms: lang: en
text: AltPrP
lang: en
text: CD230
lang: en
text: Creutzfeldt-Jakob disease
lang: en
text: Gerstmann-Strausler-Scheinker syndrome
lang: en
text: PRP
lang: en
text: fatal familial insomnia
lang: en
text: p27-30
GeneType: Name: gene with protein product
Rare disease: Silver-Russell syndrome due to a point mutation (Orphanet code 397590)
Associated genes:
Name: insulin like growth factor 2
Symbol: IGF2
Synonyms: lang: en
text: FLJ44734
lang: en
text: IGF-II
lang: en
text: preptin
lang: en
text: somatomedin A
GeneType: Name: gene with protein product
Name: cyclin dependent kinase inhibitor 1C
Symbol: CDKN1C
Synonyms: lang: en
text: KIP2
lang: en
text: P57
GeneType: Name: gene with protein product
Name: high mobility group AT-hook 2
Symbol: HMGA2
Synonyms: lang: en
text: BABL
lang: en
text: LIPO
GeneType: Name: gene with protein product
Name: PLAG1 zinc finger
Symbol: PLAG1
Synonyms: lang: en
text: ZNF912
GeneType: Name: gene with protein product
Rare disease: Multiple acyl-CoA dehydrogenase deficiency, mild type (Orphanet code 394532)
Associated genes:
Name: solute carrier family 25 member 32
Symbol: SLC25A32
Synonyms: lang: en
text: MFTC
GeneType: Name: gene with protein product
Name: flavin adenine dinucleotide synthetase 1
Symbol: FLAD1
Synonyms: lang: en
text: FAD-adenylyl transferase
lang: en
text: FAD1
lang: en
text: PP591
GeneType: Name: gene with protein product
Name: electron transfer flavoprotein subunit alpha
Symbol: ETFA
Synonyms: lang: en
text: EMA
lang: en
text: GA2
lang: en
text: MADD
lang: en
text: glutaric aciduria II
lang: en
text: multiple acyl-CoA dehydrogenase deficiency
GeneType: Name: gene with protein product
Name: electron transfer flavoprotein subunit beta
Symbol: ETFB
GeneType: Name: gene with protein product
Name: electron transfer flavoprotein dehydrogenase
Symbol: ETFDH
Synonyms: lang: en
text: ETFQO
GeneType: Name: gene with protein product
Rare disease: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type (Orphanet code 394529)
Associated genes:
Name: electron transfer flavoprotein subunit alpha
Symbol: ETFA
Synonyms: lang: en
text: EMA
lang: en
text: GA2
lang: en
text: MADD
lang: en
text: glutaric aciduria II
lang: en
text: multiple acyl-CoA dehydrogenase deficiency
GeneType: Name: gene with protein product
Name: electron transfer flavoprotein subunit beta
Symbol: ETFB
GeneType: Name: gene with protein product
Name: electron transfer flavoprotein dehydrogenase
Symbol: ETFDH
Synonyms: lang: en
text: ETFQO
GeneType: Name: gene with protein product
Name: flavin adenine dinucleotide synthetase 1
Symbol: FLAD1
Synonyms: lang: en
text: FAD-adenylyl transferase
lang: en
text: FAD1
lang: en
text: PP591
GeneType: Name: gene with protein product
Rare disease: Alpha-B crystallin-related late-onset myopathy (Orphanet code 399058)
Associated genes:
Name: crystallin alpha B
Symbol: CRYAB
Synonyms: lang: en
text: HSPB5
GeneType: Name: gene with protein product
Rare disease: KLHL9-related early-onset distal myopathy (Orphanet code 399081)
Associated genes:
Name: kelch like family member 9
Symbol: KLHL9
Synonyms: lang: en
text: FLJ13568
lang: en
text: KIAA1354
GeneType: Name: gene with protein product