TaoMedAI/RareMedData huggingface dataset:
Rare disease: Distal nebulin myopathy (Orphanet code 399103)
Associated genes:
Name: nebulin
Symbol: NEB
Synonyms: lang: en
text: NEB177D
lang: en
text: nemaline myopathy type 2
GeneType: Name: gene with protein product
Rare disease: Distal anoctaminopathy (Orphanet code 399096)
Associated genes:
Name: anoctamin 5
Symbol: ANO5
Synonyms: lang: en
text: GDD1
GeneType: Name: gene with protein product
Rare disease: Focal facial dermal dysplasia type IV (Orphanet code 398189)
Associated genes:
Name: cytochrome P450 family 26 subfamily C member 1
Symbol: CYP26C1
GeneType: Name: gene with protein product
Rare disease: MAGEL2-related Prader-Willi-like syndrome (Orphanet code 398069)
Associated genes:
Name: MAGE family member L2
Symbol: MAGEL2
Synonyms: lang: en
text: nM15
GeneType: Name: gene with protein product
Rare disease: SIM1-related Prader-Willi-like syndrome (Orphanet code 398079)
Associated genes:
Name: SIM bHLH transcription factor 1
Symbol: SIM1
Synonyms: lang: en
text: bHLHe14
GeneType: Name: gene with protein product
Rare disease: Hereditary cryohydrocytosis with normal stomatin (Orphanet code 398088)
Associated genes:
Name: solute carrier family 4 member 1 (Diego blood group)
Symbol: SLC4A1
Synonyms: lang: en
text: Band 3 anion transport protein
lang: en
text: CD233
lang: en
text: EMPB3
lang: en
text: FR
lang: en
text: Froese blood group
lang: en
text: RTA1A
lang: en
text: SW
lang: en
text: Swann blood group
lang: en
text: WR
lang: en
text: Wright blood group
GeneType: Name: gene with protein product
Rare disease: Keppen-Lubinsky syndrome (Orphanet code 435628)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 6
Symbol: KCNJ6
Synonyms: lang: en
text: BIR1
lang: en
text: G protein-activated inward rectifier potassium channel 2
lang: en
text: GIRK2
lang: en
text: KATP2
lang: en
text: Kir3.2
lang: en
text: hiGIRK2
GeneType: Name: gene with protein product
Rare disease: LIPE-related familial partial lipodystrophy (Orphanet code 435660)
Associated genes:
Name: lipase E, hormone sensitive type
Symbol: LIPE
Synonyms: lang: en
text: HSL
GeneType: Name: gene with protein product
Rare disease: CIDEC-related familial partial lipodystrophy (Orphanet code 435651)
Associated genes:
Name: cell death inducing DFFA like effector c
Symbol: CIDEC
Synonyms: lang: en
text: CIDE-3
lang: en
text: FLJ20871
lang: en
text: Fsp27
GeneType: Name: gene with protein product
Rare disease: Short stature-advanced bone age-early-onset osteoarthritis syndrome (Orphanet code 435804)
Associated genes:
Name: aggrecan
Symbol: ACAN
Synonyms: lang: en
text: CSPGCP
lang: en
text: aggrecan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Lethal neonatal spasticity-epileptic encephalopathy syndrome (Orphanet code 435845)
Associated genes:
Name: BRCA1 associated ATM activator 1
Symbol: BRAT1
Synonyms: lang: en
text: BRCA1-associated protein required for ATM activation protein 1
lang: en
text: MGC22916
GeneType: Name: gene with protein product
Rare disease: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (Orphanet code 435930)
Associated genes:
Name: SIX homeobox 6
Symbol: SIX6
Synonyms: lang: en
text: Six9
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation (Orphanet code 435819)
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: Progeroid features-hepatocellular carcinoma predisposition syndrome (Orphanet code 435953)
Associated genes:
Name: SprT-like N-terminal domain
Symbol: SPRTN
Synonyms: lang: en
text: DKFZP547N043
lang: en
text: DNA damage-targeting VCP (p97) adaptor
lang: en
text: DVC1
lang: en
text: Spartan
lang: en
text: SprT-like domain at the N terminus
GeneType: Name: gene with protein product
Rare disease: Chronic atrial and intestinal dysrhythmia syndrome (Orphanet code 435988)
Associated genes:
Name: shugoshin 1
Symbol: SGO1
Synonyms: lang: en
text: NY-BR-85
GeneType: Name: gene with protein product
Rare disease: COG2-CDG (Orphanet code 435934)
Associated genes:
Name: component of oligomeric golgi complex 2
Symbol: COG2
GeneType: Name: gene with protein product
Rare disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (Orphanet code 435938)
Associated genes:
Name: ribosomal protein L10
Symbol: RPL10
Synonyms: lang: en
text: DXS648
lang: en
text: DXS648E
lang: en
text: FLJ23544
lang: en
text: L10
lang: en
text: NOV
lang: en
text: QM
lang: en
text: uL16
GeneType: Name: gene with protein product
Rare disease: HIDEA syndrome (Orphanet code 436141)
Associated genes:
Name: prolyl 4-hydroxylase, transmembrane
Symbol: P4HTM
Synonyms: lang: en
text: EGLN4
lang: en
text: FLJ20262
lang: en
text: HIFPH4
lang: en
text: P4H-TM
lang: en
text: PH-4
lang: en
text: PH4
lang: en
text: PHD4
lang: en
text: Prolyl hydroxlase domain-containing 4
lang: en
text: hypoxia inducible factor prolyl 4 hydroxylase
GeneType: Name: gene with protein product
Rare disease: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome (Orphanet code 436144)
Associated genes:
Name: cyclin dependent kinase inhibitor 1C
Symbol: CDKN1C
Synonyms: lang: en
text: KIP2
lang: en
text: P57
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (Orphanet code 435998)
Associated genes:
Name: cytochrome c oxidase subunit 6A1
Symbol: COX6A1
Synonyms: lang: en
text: COX6AL
lang: en
text: cytochrome c oxidase subunit VIa liver isoform
GeneType: Name: gene with protein product
Rare disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (Orphanet code 436159)
Associated genes:
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
Rare disease: Intellectual disability-expressive aphasia-facial dysmorphism syndrome (Orphanet code 436151)
Associated genes:
Name: SET binding protein 1
Symbol: SETBP1
Synonyms: lang: en
text: KIAA0437
lang: en
text: SEB
GeneType: Name: gene with protein product
Rare disease: Thrombomodulin-related bleeding disorder (Orphanet code 436169)
Associated genes:
Name: thrombomodulin
Symbol: THBD
Synonyms: lang: en
text: BDCA-3
lang: en
text: CD141
lang: en
text: THRM
lang: en
text: fetomodulin
GeneType: Name: gene with protein product
Rare disease: Periodic fever-infantile enterocolitis-autoinflammatory syndrome (Orphanet code 436166)
Associated genes:
Name: NLR family CARD domain containing 4
Symbol: NLRC4
Synonyms: lang: en
text: CLAN
lang: en
text: CLAN1
lang: en
text: CLANA
lang: en
text: CLANB
lang: en
text: CLANC
lang: en
text: CLAND
lang: en
text: CLR2.1
lang: en
text: NOD-like receptor C4
lang: en
text: ipaf
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4
GeneType: Name: gene with protein product
Rare disease: Microcephalic primordial dwarfism-insulin resistance syndrome (Orphanet code 436182)
Associated genes:
Name: NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
Symbol: NSMCE2
Synonyms: lang: en
text: FLJ32440
lang: en
text: MMS21
lang: en
text: NSE2
lang: en
text: ZMIZ7
lang: en
text: zinc finger, MIZ-type containing 7
GeneType: Name: gene with protein product
Name: X-ray repair cross complementing 4
Symbol: XRCC4
Synonyms: lang: en
text: DNA repair protein XRCC4
lang: en
text: X-ray repair, complementing defective, repair in Chinese hamster
lang: en
text: hXRCC4
GeneType: Name: gene with protein product
Rare disease: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (Orphanet code 436174)
Associated genes:
Name: isoleucyl-tRNA synthetase 2, mitochondrial
Symbol: IARS2
Synonyms: lang: en
text: FLJ10326
lang: en
text: isoleucine tRNA ligase 2, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (Orphanet code 436245)
Associated genes:
Name: retinol dehydrogenase 11
Symbol: RDH11
Synonyms: lang: en
text: ARSDR1
lang: en
text: MDT1
lang: en
text: SDR7C1
lang: en
text: androgen-regulated short-chain dehydrogenase/reductase 1
lang: en
text: short chain dehydrogenase/reductase family 7C, member 1
GeneType: Name: gene with protein product
Rare disease: Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease (Orphanet code 436242)
Associated genes:
Name: TNNI3 interacting kinase
Symbol: TNNI3K
Synonyms: lang: en
text: CARK
GeneType: Name: gene with protein product
Rare disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (Orphanet code 436271)
Associated genes:
Name: cytochrome c oxidase assembly factor 8
Symbol: COA8
Synonyms: lang: en
text: APOP-1
lang: en
text: MGC2562
lang: en
text: apoptogenic protein 1
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency-enteropathy spectrum (Orphanet code 436252)
Associated genes:
Name: tetratricopeptide repeat domain 7A
Symbol: TTC7A
Synonyms: lang: en
text: KIAA1140
GeneType: Name: gene with protein product
Name: phosphatidylinositol 4-kinase alpha
Symbol: PI4KA
Synonyms: lang: en
text: PI4K-ALPHA
lang: en
text: phosphatidylinositol 4-kinase III alpha
lang: en
text: phosphatidylinositol 4-kinase IIIa
lang: en
text: pi4K230
GeneType: Name: gene with protein product
Rare disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (Orphanet code 436274)
Associated genes:
Name: gamma-glutamyl carboxylase
Symbol: GGCX
Synonyms: lang: en
text: VKCFD1
lang: en
text: peptidyl-glutamate 4-carboxylase
lang: en
text: vitamin K-dependent gamma-carboxylase
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (Orphanet code 437552)
Associated genes:
Name: Fc fragment of IgG receptor IIIa
Symbol: FCGR3A
Synonyms: lang: en
text: CD16
lang: en
text: CD16a
lang: en
text: Fc gamma receptor IIIa
lang: en
text: FcGRIIIA
lang: en
text: FcgammaRIIIa
GeneType: Name: gene with protein product
Rare disease: Fatty acyl-CoA reductase 1 deficiency (Orphanet code 438178)
Associated genes:
Name: fatty acyl-CoA reductase 1
Symbol: FAR1
Synonyms: lang: en
text: FLJ22728
lang: en
text: SDR10E1
lang: en
text: short chain dehydrogenase/reductase family 10E, member 1
GeneType: Name: gene with protein product
Rare disease: STAT3-related early-onset multisystem autoimmune disease (Orphanet code 438159)
Associated genes:
Name: signal transducer and activator of transcription 3
Symbol: STAT3
Synonyms: lang: en
text: APRF
GeneType: Name: gene with protein product
Rare disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (Orphanet code 438134)
Associated genes:
Name: proliferating cell nuclear antigen
Symbol: PCNA
GeneType: Name: gene with protein product
Rare disease: Steel syndrome (Orphanet code 438117)
Associated genes:
Name: collagen type XXVII alpha 1 chain
Symbol: COL27A1
Synonyms: lang: en
text: FLJ11895
lang: en
text: KIAA1870
lang: en
text: MGC11337
GeneType: Name: gene with protein product
Rare disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (Orphanet code 438114)
Associated genes:
Name: arginyl-tRNA synthetase 1
Symbol: RARS1
Synonyms: lang: en
text: DALRD1
lang: en
text: arginine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Ketoacidosis due to monocarboxylate transporter-1 deficiency (Orphanet code 438075)
Associated genes:
Name: solute carrier family 16 member 1
Symbol: SLC16A1
Synonyms: lang: en
text: MCT
lang: en
text: MCT1
lang: en
text: Monocarboxylate transporter 1
GeneType: Name: gene with protein product
Rare disease: GCGR-related hyperglucagonemia (Orphanet code 438274)
Associated genes:
Name: glucagon receptor
Symbol: GCGR
Synonyms: lang: en
text: GGR
GeneType: Name: gene with protein product
Rare disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (Orphanet code 438216)
Associated genes:
Name: purine rich element binding protein A
Symbol: PURA
Synonyms: lang: en
text: PUR-ALPHA
lang: en
text: PUR1
lang: en
text: PURALPHA
GeneType: Name: gene with protein product
Rare disease: Severe autosomal recessive macrothrombocytopenia (Orphanet code 438207)
Associated genes:
Name: protein kinase cAMP-activated catalytic subunit gamma
Symbol: PRKACG
Synonyms: lang: en
text: PKACg
GeneType: Name: gene with protein product
Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Symbol: GNE
Synonyms: lang: en
text: Uae1
lang: en
text: bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
GeneType: Name: gene with protein product
Rare disease: Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome (Orphanet code 439212)
Associated genes:
Name: multiple EGF like domains 10
Symbol: MEGF10
Synonyms: lang: en
text: KIAA1780
lang: en
text: SR-F3
GeneType: Name: gene with protein product
Rare disease: KCNQ2-related epileptic encephalopathy (Orphanet code 439218)
Associated genes:
Name: potassium voltage-gated channel subfamily Q member 2
Symbol: KCNQ2
Synonyms: lang: en
text: BFNC
lang: en
text: ENB1
lang: en
text: HNSPC
lang: en
text: KCNA11
lang: en
text: Kv7.2
GeneType: Name: gene with protein product
Rare disease: PDE4D haploinsufficiency syndrome (Orphanet code 439822)
Associated genes:
Name: phosphodiesterase 4D
Symbol: PDE4D
Synonyms: lang: en
text: cAMP-specific 3',5'-cyclic phosphodiesterase 4D
lang: en
text: phosphodiesterase E3 dunce homolog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (Orphanet code 439854)
Associated genes:
Name: protein kinase AMP-activated non-catalytic subunit gamma 2
Symbol: PRKAG2
Synonyms: lang: en
text: AAKG
lang: en
text: AAKG2
lang: en
text: AMPK gamma2
lang: en
text: CMH6
lang: en
text: H91620p
lang: en
text: WPWS
GeneType: Name: gene with protein product
Rare disease: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome (Orphanet code 439897)
Associated genes:
Name: kinesin family member 14
Symbol: KIF14
Synonyms: lang: en
text: KIAA0042
GeneType: Name: gene with protein product
Rare disease: Interstitial lung disease due to ABCA3 deficiency (Orphanet code 440402)
Associated genes:
Name: ATP binding cassette subfamily A member 3
Symbol: ABCA3
Synonyms: lang: en
text: ABC-C
lang: en
text: EST111653
lang: en
text: LBM180
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome (Orphanet code 440354)
Associated genes:
Name: collagen type XI alpha 1 chain
Symbol: COL11A1
Synonyms: lang: en
text: CO11A1
lang: en
text: STL2
lang: en
text: collagen XI, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Interstitial lung disease due to SP-C deficiency (Orphanet code 440392)
Associated genes:
Name: surfactant protein C
Symbol: SFTPC
Synonyms: lang: en
text: BRICD6
lang: en
text: BRICHOS domain containing 6
lang: en
text: PSP-C
lang: en
text: SMDP2
lang: en
text: SP-C
GeneType: Name: gene with protein product
Rare disease: Isolated sedoheptulokinase deficiency (Orphanet code 440713)
Associated genes:
Name: sedoheptulokinase
Symbol: SHPK
Synonyms: lang: en
text: SHK
GeneType: Name: gene with protein product
Rare disease: L-ferritin deficiency (Orphanet code 440731)
Associated genes:
Name: ferritin light chain
Symbol: FTL
Synonyms: lang: en
text: FTL1
lang: en
text: L apoferritin
lang: en
text: MGC71996
lang: en
text: NBIA3
lang: en
text: ferritin L subunit
lang: en
text: ferritin L-chain
lang: en
text: ferritin light polypeptide-like 3
lang: en
text: neurodegeneration with brain iron accumulation 3
GeneType: Name: gene with protein product
Name: ferritin light chain
Symbol: FTL
Synonyms: lang: en
text: FTL1
lang: en
text: L apoferritin
lang: en
text: MGC71996
lang: en
text: NBIA3
lang: en
text: ferritin L subunit
lang: en
text: ferritin L-chain
lang: en
text: ferritin light polypeptide-like 3
lang: en
text: neurodegeneration with brain iron accumulation 3
GeneType: Name: gene with protein product
Rare disease: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (Orphanet code 440427)
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: Familial colorectal cancer Type X (Orphanet code 440437)
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: mutY DNA glycosylase
Symbol: MUTYH
Synonyms: lang: en
text: MYH
GeneType: Name: gene with protein product
Name: semaphorin 4A
Symbol: SEMA4A
Synonyms: lang: en
text: CORD10
lang: en
text: FLJ12287
lang: en
text: SemB
GeneType: Name: gene with protein product
Name: ribosomal protein S20
Symbol: RPS20
Synonyms: lang: en
text: S20
lang: en
text: uS10
GeneType: Name: gene with protein product
Name: DNA polymerase epsilon, catalytic subunit
Symbol: POLE
Synonyms: lang: en
text: DNA polymerase epsilon catalytic subunit A
lang: en
text: POLE1
GeneType: Name: gene with protein product
Name: DNA polymerase delta 1, catalytic subunit
Symbol: POLD1
Synonyms: lang: en
text: CDC2
lang: en
text: CDC2 homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
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: checkpoint kinase 2
Symbol: CHEK2
Synonyms: lang: en
text: CDS1
lang: en
text: CHK2
lang: en
text: HuCds1
lang: en
text: PP1425
lang: en
text: bA444G7
GeneType: Name: gene with protein product
Rare disease: Ribose-5-P isomerase deficiency (Orphanet code 440706)
Associated genes:
Name: ribose 5-phosphate isomerase A
Symbol: RPIA
Synonyms: lang: en
text: ribose 5-phosphate epimerase
GeneType: Name: gene with protein product
Rare disease: Early-onset posterior subcapsular cataract (Orphanet code 441447)
Associated genes:
Name: LEM domain nuclear envelope protein 2
Symbol: LEMD2
Synonyms: lang: en
text: LEM2
lang: en
text: NET25
lang: en
text: dJ482C21.1
lang: en
text: lamina-associated polypeptide-emerin-MAN1 domain containing 2
GeneType: Name: gene with protein product
Name: crystallin beta B2
Symbol: CRYBB2
GeneType: Name: gene with protein product
Name: charged multivesicular body protein 4B
Symbol: CHMP4B
Synonyms: lang: en
text: SNF7-2
lang: en
text: Shax1
lang: en
text: VPS32B
lang: en
text: dJ553F4.4
GeneType: Name: gene with protein product
Name: EPH receptor A2
Symbol: EPHA2
GeneType: Name: gene with protein product
Name: unc-45 myosin chaperone B
Symbol: UNC45B
Synonyms: lang: en
text: UNC45
GeneType: Name: gene with protein product
Rare disease: Early-onset lamellar cataract (Orphanet code 441452)
Associated genes:
Name: beaded filament structural protein 2
Symbol: BFSP2
Synonyms: lang: en
text: CP47
lang: en
text: CP49
lang: en
text: LIFL-L
lang: en
text: phakinin
GeneType: Name: gene with protein product
Name: crystallin alpha A
Symbol: CRYAA
Synonyms: lang: en
text: HSPB4
GeneType: Name: gene with protein product
Name: crystallin alpha B
Symbol: CRYAB
Synonyms: lang: en
text: HSPB5
GeneType: Name: gene with protein product
Name: crystallin beta A1
Symbol: CRYBA1
Synonyms: lang: en
text: eye lens structural protein
GeneType: Name: gene with protein product
Name: crystallin beta A4
Symbol: CRYBA4
GeneType: Name: gene with protein product
Name: crystallin gamma C
Symbol: CRYGC
GeneType: Name: gene with protein product
Name: crystallin gamma D
Symbol: CRYGD
GeneType: Name: gene with protein product
Name: heat shock transcription factor 4
Symbol: HSF4
GeneType: Name: gene with protein product
Name: major intrinsic protein of lens fiber
Symbol: MIP
Synonyms: lang: en
text: AQP0
lang: en
text: LIM1
lang: en
text: MP26
lang: en
text: aquaporin 0
GeneType: Name: gene with protein product
Name: crystallin gamma S
Symbol: CRYGS
Synonyms: lang: en
text: crystallin, gamma 8
GeneType: Name: gene with protein product
Name: crystallin gamma B
Symbol: CRYGB
GeneType: Name: gene with protein product
Rare disease: Sporadic porphyria cutanea tarda (Orphanet code 443057)
Associated genes:
Name: homeostatic iron regulator
Symbol: HFE
Synonyms: lang: en
text: HFE1
lang: en
text: HLA-H
lang: en
text: high Fe
GeneType: Name: gene with protein product
Rare disease: Familial porphyria cutanea tarda (Orphanet code 443062)
Associated genes:
Name: uroporphyrinogen decarboxylase
Symbol: UROD
GeneType: Name: gene with protein product
Name: homeostatic iron regulator
Symbol: HFE
Synonyms: lang: en
text: HFE1
lang: en
text: HLA-H
lang: en
text: high Fe
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 2S (Orphanet code 443073)
Associated genes:
Name: immunoglobulin mu DNA binding protein 2
Symbol: IGHMBP2
Synonyms: lang: en
text: CATF1
lang: en
text: CMT2S
lang: en
text: HCSA
lang: en
text: HMN6
lang: en
text: SMARD1
lang: en
text: SMUBP2
lang: en
text: ZFAND7
lang: en
text: cardiac transcription factor 1
lang: en
text: zinc finger, AN1-type domain 7
GeneType: Name: gene with protein product
Rare disease: X-linked erythropoietic protoporphyria (Orphanet code 443197)
Associated genes:
Name: 5'-aminolevulinate synthase 2
Symbol: ALAS2
Synonyms: lang: en
text: ALAS-E
lang: en
text: erythroid-specific delta-aminolevulinate synthase
lang: en
text: sideroblastic/hypochromic anemia
GeneType: Name: gene with protein product
Rare disease: Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet code 298)
Associated genes:
Name: DNA polymerase gamma, catalytic subunit
Symbol: POLG
Synonyms: lang: en
text: POLG1
lang: en
text: POLGA
GeneType: Name: gene with protein product
Name: thymidine phosphorylase
Symbol: TYMP
Synonyms: lang: en
text: Gliostatin
lang: en
text: gliostatin
GeneType: Name: gene with protein product
Name: ribonucleotide reductase regulatory TP53 inducible subunit M2B
Symbol: RRM2B
Synonyms: lang: en
text: p53R2
GeneType: Name: gene with protein product
Name: DNA ligase 3
Symbol: LIG3
Synonyms: lang: en
text: DNA ligase III
lang: en
text: LIG3alpha
GeneType: Name: gene with protein product
Rare disease: Postural orthostatic tachycardia syndrome due to NET deficiency (Orphanet code 443236)
Associated genes:
Name: solute carrier family 6 member 2
Symbol: SLC6A2
Synonyms: lang: en
text: NET
lang: en
text: norepinephrine transporter
GeneType: Name: gene with protein product