TaoMedAI/RareMedData huggingface dataset:
Rare disease: Mitochondrial DNA-associated Leigh syndrome (Orphanet code 255210)
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 NADH:ubiquinone oxidoreductase core subunit 1
Symbol: MT-ND1
Synonyms: lang: en
text: NAD1
lang: en
text: NADH-ubiquinone oxidoreductase chain 1
lang: en
text: ND1
lang: en
text: complex I ND1 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
Symbol: MT-ND2
Synonyms: lang: en
text: NAD2
lang: en
text: NADH-ubiquinone oxidoreductase chain 2
lang: en
text: ND2
lang: en
text: complex I ND2 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
Symbol: MT-ND3
Synonyms: lang: en
text: NAD3
lang: en
text: NADH-ubiquinone oxidoreductase chain 3
lang: en
text: ND3
lang: en
text: complex I ND3 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
Symbol: MT-ND4
Synonyms: lang: en
text: NAD4
lang: en
text: NADH-ubiquinone oxidoreductase chain 4
lang: en
text: ND4
lang: en
text: complex I ND4 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
Symbol: MT-ND5
Synonyms: lang: en
text: NAD5
lang: en
text: NADH-ubiquinone oxidoreductase chain 5
lang: en
text: ND5
lang: en
text: complex I ND5 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
Symbol: MT-ND6
Synonyms: lang: en
text: NAD6
lang: en
text: NADH-ubiquinone oxidoreductase chain 6
lang: en
text: ND6
lang: en
text: complex I ND6 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded tRNA-Leu (UUA/G) 1
Symbol: MT-TL1
Synonyms: lang: en
text: TRNL1
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Lys (AAA/G)
Symbol: MT-TK
Synonyms: lang: en
text: trnK
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Trp (UGA/G)
Symbol: MT-TW
Synonyms: lang: en
text: trnW
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Val (GUN)
Symbol: MT-TV
Synonyms: lang: en
text: trnV
GeneType: Name: Non-coding RNA
Rare disease: Navajo neurohepatopathy (Orphanet code 255229)
Associated genes:
Name: mitochondrial inner membrane protein MPV17
Symbol: MPV17
Synonyms: lang: en
text: SYM1
lang: en
text: glomerulosclerosis
GeneType: Name: gene with protein product
Rare disease: Oculocerebrofacial syndrome, Kaufman type (Orphanet code 2707)
Associated genes:
Name: ubiquitin protein ligase E3B
Symbol: UBE3B
GeneType: Name: gene with protein product
Rare disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet code 255235)
Associated genes:
Name: ribonucleotide reductase regulatory TP53 inducible subunit M2B
Symbol: RRM2B
Synonyms: lang: en
text: p53R2
GeneType: Name: gene with protein product
Rare disease: Oculodentodigital dysplasia (Orphanet code 2710)
Associated genes:
Name: gap junction protein alpha 1
Symbol: GJA1
Synonyms: lang: en
text: CX43
lang: en
text: ODD
lang: en
text: ODOD
lang: en
text: SDTY3
lang: en
text: connexin 43
lang: en
text: oculodentodigital dysplasia (syndactyly type III)
GeneType: Name: gene with protein product
Rare disease: Blepharophimosis-intellectual disability syndrome, Ohdo type (Orphanet code 2728)
Associated genes:
Name: mediator complex subunit 12
Symbol: MED12
Synonyms: lang: en
text: ARC240
lang: en
text: CAGH45
lang: en
text: HOPA
lang: en
text: KIAA0192
lang: en
text: Kohtalo homolog
lang: en
text: Kto
lang: en
text: OKS
lang: en
text: OPA1
lang: en
text: TRAP230
GeneType: Name: gene with protein product
Rare disease: Odonto-onycho-dermal dysplasia (Orphanet code 2721)
Associated genes:
Name: Wnt family member 10A
Symbol: WNT10A
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive sideroblastic anemia (Orphanet code 260305)
Associated genes:
Name: solute carrier family 25 member 38
Symbol: SLC25A38
Synonyms: lang: en
text: FLJ20551
lang: en
text: Mitochondrial glycine transporter
GeneType: Name: gene with protein product
Name: heat shock protein family A (Hsp70) member 9
Symbol: HSPA9
Synonyms: lang: en
text: 75 kDa glucose-regulated protein
lang: en
text: GRP75
lang: en
text: PBP74
lang: en
text: Stress-70 protein, mitochondrial
lang: en
text: mortalin
lang: en
text: mortalin2
lang: en
text: mot-2
lang: en
text: mthsp75
GeneType: Name: gene with protein product
Rare disease: Orofaciodigital syndrome type 6 (Orphanet code 2754)
Associated genes:
Name: family with sequence similarity 149 member B1
Symbol: FAM149B1
GeneType: Name: gene with protein product
Name: OFD1 centriole and centriolar satellite protein
Symbol: OFD1
Synonyms: lang: en
text: 71-7A
lang: en
text: JBTS10
lang: en
text: Joubert syndrome type 10
GeneType: Name: gene with protein product
Name: transmembrane protein 216
Symbol: TMEM216
Synonyms: lang: en
text: HSPC244
lang: en
text: JBTS2
lang: en
text: MGC13379
GeneType: Name: gene with protein product
Name: kinesin family member 7
Symbol: KIF7
Synonyms: lang: en
text: JBTS12
GeneType: Name: gene with protein product
Name: ciliogenesis and planar polarity effector complex subunit 1
Symbol: CPLANE1
Synonyms: lang: en
text: FLJ13231
lang: en
text: Heart Under Glass
lang: en
text: Hug
lang: en
text: JBTS17
GeneType: Name: gene with protein product
Name: tectonic family member 3
Symbol: TCTN3
Synonyms: lang: en
text: DKFZP564D116
lang: en
text: JBTS18
lang: en
text: TECT3
GeneType: Name: gene with protein product
Name: phosphodiesterase 6D
Symbol: PDE6D
Synonyms: lang: en
text: JBTS22
lang: en
text: retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
GeneType: Name: gene with protein product
Name: transmembrane protein 231
Symbol: TMEM231
Synonyms: lang: en
text: ALYE870
lang: en
text: FLJ22167
lang: en
text: JBTS20
lang: en
text: MKS11
lang: en
text: PRO1886
GeneType: Name: gene with protein product
Name: TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Symbol: TOPORS
Synonyms: lang: en
text: LUN
lang: en
text: TP53BPL
GeneType: Name: gene with protein product
Name: KIAA0753
Symbol: KIAA0753
Synonyms: lang: en
text: MNR
lang: en
text: OFD1 and FOPNL interacting protein
lang: en
text: OFD1 and FOR20 interacting protein
lang: en
text: OFIP
lang: en
text: moonraker
GeneType: Name: gene with protein product
Rare disease: Orofaciodigital syndrome type 4 (Orphanet code 2753)
Associated genes:
Name: tectonic family member 3
Symbol: TCTN3
Synonyms: lang: en
text: DKFZP564D116
lang: en
text: JBTS18
lang: en
text: TECT3
GeneType: Name: gene with protein product
Rare disease: Orofaciodigital syndrome type 2 (Orphanet code 2751)
Associated genes:
Name: NIMA related kinase 1
Symbol: NEK1
Synonyms: lang: en
text: KIAA1901
lang: en
text: NY-REN-55
GeneType: Name: gene with protein product
Rare disease: Malignant peripheral nerve sheath tumor with perineurial differentiation (Orphanet code 252128)
Associated genes:
Name: SH3 and PX domains 2A
Symbol: SH3PXD2A
Synonyms: lang: en
text: FISH
lang: en
text: KIAA0418
lang: en
text: five SH3 domains
GeneType: Name: gene with protein product
Name: HtrA serine peptidase 1
Symbol: HTRA1
Synonyms: lang: en
text: ARMD7
lang: en
text: HtrA
lang: en
text: IGFBP5-protease
GeneType: Name: gene with protein product
Rare disease: Orofaciodigital syndrome type 1 (Orphanet code 2750)
Associated genes:
Name: OFD1 centriole and centriolar satellite protein
Symbol: OFD1
Synonyms: lang: en
text: 71-7A
lang: en
text: JBTS10
lang: en
text: Joubert syndrome type 10
GeneType: Name: gene with protein product
Rare disease: Congenital central hypoventilation syndrome (Orphanet code 661)
Associated genes:
Name: ladybird homeobox 1
Symbol: LBX1
Synonyms: lang: en
text: HPX6
lang: en
text: LBX1H
GeneType: Name: gene with protein product
Name: paired like homeobox 2B
Symbol: PHOX2B
Synonyms: lang: en
text: NBPhox
lang: en
text: Phox2b
GeneType: Name: gene with protein product
Name: endothelin 3
Symbol: EDN3
Synonyms: lang: en
text: ET3
GeneType: Name: gene with protein product
Name: glial cell derived neurotrophic factor
Symbol: GDNF
Synonyms: lang: en
text: ATF1
lang: en
text: ATF2
lang: en
text: HFB1-GDNF
lang: en
text: astrocyte-derived trophic factor
lang: en
text: glial cell line derived neurotrophic factor
lang: en
text: glial derived neurotrophic factor
GeneType: Name: gene with protein product
Name: myosin IH
Symbol: MYO1H
Synonyms: lang: en
text: FLJ37587
lang: en
text: Unconventional myosin-Ih
GeneType: Name: gene with protein product
Name: brain derived neurotrophic factor
Symbol: BDNF
Synonyms: lang: en
text: neurotrophin
GeneType: Name: gene with protein product
Rare disease: Plectin-related limb-girdle muscular dystrophy R17 (Orphanet code 254361)
Associated genes:
Name: plectin
Symbol: PLEC
Synonyms: lang: en
text: PCN
lang: en
text: PLTN
GeneType: Name: gene with protein product
Rare disease: Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet code 2774)
Associated genes:
Name: MAF bZIP transcription factor B
Symbol: MAFB
GeneType: Name: gene with protein product
Rare disease: Nasu-Hakola disease (Orphanet code 2770)
Associated genes:
Name: triggering receptor expressed on myeloid cells 2
Symbol: TREM2
Synonyms: lang: en
text: TREM-2
lang: en
text: Trem2a
lang: en
text: Trem2b
lang: en
text: Trem2c
GeneType: Name: gene with protein product
Name: transmembrane immune signaling adaptor TYROBP
Symbol: TYROBP
Synonyms: lang: en
text: DAP12
lang: en
text: DNAX adaptor protein 12
lang: en
text: DNAX-activation protein 12
lang: en
text: KARAP
lang: en
text: PLO-SL
lang: en
text: killer activating receptor associated protein
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome (Orphanet code 254343)
Associated genes:
Name: mitochondrial poly(A) polymerase
Symbol: MTPAP
Synonyms: lang: en
text: FLJ10486
lang: en
text: SPAX4
lang: en
text: TENT6
lang: en
text: TUTase1
lang: en
text: mtPAP
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (Orphanet code 254334)
Associated genes:
Name: lysyl-tRNA synthetase 1
Symbol: KARS1
Synonyms: lang: en
text: KARS1
lang: en
text: KARS2
lang: en
text: lysine tRNA ligase
GeneType: Name: gene with protein product
Rare disease: Progressive osseous heteroplasia (Orphanet code 2762)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: Malignant triton tumor (Orphanet code 252212)
Associated genes:
Name: SH3 and PX domains 2A
Symbol: SH3PXD2A
Synonyms: lang: en
text: FISH
lang: en
text: KIAA0418
lang: en
text: five SH3 domains
GeneType: Name: gene with protein product
Name: HtrA serine peptidase 1
Symbol: HTRA1
Synonyms: lang: en
text: ARMD7
lang: en
text: HtrA
lang: en
text: IGFBP5-protease
GeneType: Name: gene with protein product
Rare disease: Osteocraniostenosis (Orphanet code 2763)
Associated genes:
Name: FAM111 trypsin like peptidase A
Symbol: FAM111A
Synonyms: lang: en
text: FLJ22794
lang: en
text: KIAA1895
GeneType: Name: gene with protein product
Rare disease: Melanoma and neural system tumor syndrome (Orphanet code 252206)
Associated genes:
Name: cyclin dependent kinase inhibitor 2A
Symbol: CDKN2A
Synonyms: lang: en
text: ARF
lang: en
text: CAI2
lang: en
text: CDK4I
lang: en
text: CDKN2A/ARF Intron 2 lncRNA
lang: en
text: CMM2
lang: en
text: INK4
lang: en
text: INK4a
lang: en
text: MTS1
lang: en
text: P16-INK4A
lang: en
text: cyclin-dependent kinase 4 inhibitor A
lang: en
text: inhibitor of cdk4 A
lang: en
text: multiple tumour suppressor 1
lang: en
text: p14
lang: en
text: p14 alternate open reading frame
lang: en
text: p14ARF
lang: en
text: p16
lang: en
text: p16INK4a
lang: en
text: p19
lang: en
text: p19 alternate open reading frame
lang: en
text: p19Arf
GeneType: Name: gene with protein product
Rare disease: Constitutional mismatch repair deficiency syndrome (Orphanet code 252202)
Associated genes:
Name: PMS1 homolog 2, mismatch repair system component
Symbol: PMS2
Synonyms: lang: en
text: HNPCC4
lang: en
text: H_DJ0042M02.9
lang: en
text: MLH4
lang: en
text: PMS-2
GeneType: Name: gene with protein product
Name: mutL homolog 1
Symbol: MLH1
Synonyms: lang: en
text: FCC2
lang: en
text: HNPCC
lang: en
text: HNPCC2
lang: en
text: MLH-1
GeneType: Name: gene with protein product
Name: mutS homolog 2
Symbol: MSH2
Synonyms: lang: en
text: DNA mismatch repair protein Msh2
lang: en
text: HNPCC
lang: en
text: HNPCC1
lang: en
text: MSH-2
GeneType: Name: gene with protein product
Name: mutS homolog 6
Symbol: MSH6
Synonyms: lang: en
text: MSH-6
GeneType: Name: gene with protein product
Rare disease: Otofaciocervical syndrome (Orphanet code 2792)
Associated genes:
Name: EYA transcriptional coactivator and phosphatase 1
Symbol: EYA1
GeneType: Name: gene with protein product
Name: paired box 1
Symbol: PAX1
GeneType: Name: gene with protein product
Rare disease: Temple syndrome due to paternal 14q32.2 microdeletion (Orphanet code 254525)
Associated genes:
Name: maternally expressed 3
Symbol: MEG3
Synonyms: lang: en
text: GTL2
lang: en
text: LINC00023
lang: en
text: NCRNA00023
lang: en
text: gene trap locus 2
lang: en
text: long intergenic non-protein coding RNA 23
lang: en
text: non-protein coding RNA 23
lang: en
text: onco-lncRNA-83
GeneType: Name: Non-coding RNA
Name: delta like non-canonical Notch ligand 1
Symbol: DLK1
Synonyms: lang: en
text: Delta1
lang: en
text: FA1
lang: en
text: Pref-1
lang: en
text: ZOG
lang: en
text: pG2
GeneType: Name: gene with protein product
Name: retrotransposon Gag like 1
Symbol: RTL1
Synonyms: lang: en
text: HUR1
lang: en
text: MART1
lang: en
text: Mar1
lang: en
text: PEG11
lang: en
text: SIRH2
lang: en
text: Sushi-Ichi retrotransposon homolog 2
lang: en
text: mammalian retrotransposon-derived 1
lang: en
text: paternally expressed 11
GeneType: Name: gene with protein product
Rare disease: Pachydermoperiostosis (Orphanet code 2796)
Associated genes:
Name: solute carrier organic anion transporter family member 2A1
Symbol: SLCO2A1
Synonyms: lang: en
text: OATP2A1
lang: en
text: PGT
lang: en
text: prostaglandin transporter
GeneType: Name: gene with protein product
Name: 15-hydroxyprostaglandin dehydrogenase
Symbol: HPGD
Synonyms: lang: en
text: 15-hydroxyprostaglandin dehydrogenase (NAD(+))
lang: en
text: SDR36C1
lang: en
text: short chain dehydrogenase/reductase family 36C, member 1
GeneType: Name: gene with protein product
Rare disease: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (Orphanet code 254528)
Associated genes:
Name: retrotransposon Gag like 1
Symbol: RTL1
Synonyms: lang: en
text: HUR1
lang: en
text: MART1
lang: en
text: Mar1
lang: en
text: PEG11
lang: en
text: SIRH2
lang: en
text: Sushi-Ichi retrotransposon homolog 2
lang: en
text: mammalian retrotransposon-derived 1
lang: en
text: paternally expressed 11
GeneType: Name: gene with protein product
Name: maternally expressed 3
Symbol: MEG3
Synonyms: lang: en
text: GTL2
lang: en
text: LINC00023
lang: en
text: NCRNA00023
lang: en
text: gene trap locus 2
lang: en
text: long intergenic non-protein coding RNA 23
lang: en
text: non-protein coding RNA 23
lang: en
text: onco-lncRNA-83
GeneType: Name: Non-coding RNA
Name: delta like non-canonical Notch ligand 1
Symbol: DLK1
Synonyms: lang: en
text: Delta1
lang: en
text: FA1
lang: en
text: Pref-1
lang: en
text: ZOG
lang: en
text: pG2
GeneType: Name: gene with protein product
Rare disease: Lateral meningocele syndrome (Orphanet code 2789)
Associated genes:
Name: notch receptor 3
Symbol: NOTCH3
Synonyms: lang: en
text: CASIL
GeneType: Name: gene with protein product
Rare disease: Osteoporosis-pseudoglioma syndrome (Orphanet code 2788)
Associated genes:
Name: LDL receptor related protein 5
Symbol: LRP5
Synonyms: lang: en
text: BMND1
lang: en
text: EVR4
lang: en
text: HBM
lang: en
text: LR3
lang: en
text: OPS
lang: en
text: OPTA1
lang: en
text: VBCH2
GeneType: Name: gene with protein product
Rare disease: Otodental syndrome (Orphanet code 2791)
Associated genes:
Name: fibroblast growth factor 3
Symbol: FGF3
Synonyms: lang: en
text: HBGF-3
lang: en
text: INT-2 proto-oncogene protein
lang: en
text: V-INT2 murine mammary tumor virus integration site oncogene homolog
lang: en
text: murine mammary tumor virus integration site 2, mouse
lang: en
text: oncogene INT2
GeneType: Name: gene with protein product
Rare disease: Endosteal hyperostosis, Worth type (Orphanet code 2790)
Associated genes:
Name: LDL receptor related protein 5
Symbol: LRP5
Synonyms: lang: en
text: BMND1
lang: en
text: EVR4
lang: en
text: HBM
lang: en
text: LR3
lang: en
text: OPS
lang: en
text: OPTA1
lang: en
text: VBCH2
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant osteopetrosis type 1 (Orphanet code 2783)
Associated genes:
Name: LDL receptor related protein 5
Symbol: LRP5
Synonyms: lang: en
text: BMND1
lang: en
text: EVR4
lang: en
text: HBM
lang: en
text: LR3
lang: en
text: OPS
lang: en
text: OPTA1
lang: en
text: VBCH2
GeneType: Name: gene with protein product
Rare disease: Osteopathia striata-cranial sclerosis syndrome (Orphanet code 2780)
Associated genes:
Name: APC membrane recruitment protein 1
Symbol: AMER1
Synonyms: lang: en
text: FLJ39827
lang: en
text: RP11-403E24.2
lang: en
text: WTX
lang: en
text: Wilms Tumor on the X
lang: en
text: adenomatous polyposis coli membrane recruitment 1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive malignant osteopetrosis (Orphanet code 667)
Associated genes:
Name: chloride voltage-gated channel 7
Symbol: CLCN7
Synonyms: lang: en
text: CLC-7
lang: en
text: CLC7
lang: en
text: ClC-7
lang: en
text: OPTA2
lang: en
text: PPP1R63
lang: en
text: protein phosphatase 1, regulatory subunit 63
GeneType: Name: gene with protein product
Name: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Symbol: TCIRG1
Synonyms: lang: en
text: ATP6N1C
lang: en
text: ATP6V0A3
lang: en
text: Atp6i
lang: en
text: OC-116
lang: en
text: OC116
lang: en
text: T-cell immune response cDNA 7
lang: en
text: TIRC7
lang: en
text: V-ATPase subunit a3
lang: en
text: a3
GeneType: Name: gene with protein product
Name: TNF superfamily member 11
Symbol: TNFSF11
Synonyms: lang: en
text: CD254
lang: en
text: ODF
lang: en
text: OPGL
lang: en
text: RANKL
lang: en
text: TRANCE
GeneType: Name: gene with protein product
Name: sorting nexin 10
Symbol: SNX10
GeneType: Name: gene with protein product
Rare disease: Partial pancreatic agenesis (Orphanet code 2805)
Associated genes:
Name: pancreas associated transcription factor 1a
Symbol: PTF1A
Synonyms: lang: en
text: PTF1-p48
lang: en
text: bHLHa29
lang: en
text: p48
GeneType: Name: gene with protein product
Name: pancreatic and duodenal homeobox 1
Symbol: PDX1
Synonyms: lang: en
text: GSF
lang: en
text: Glucose-sensitive factor
lang: en
text: IDX-1
lang: en
text: IUF-1
lang: en
text: Islet/duodenum homeobox-1
lang: en
text: MODY4
lang: en
text: PDX-1
lang: en
text: STF-1
lang: en
text: insulin upstream factor 1
lang: en
text: somatostatin transcription factor 1
GeneType: Name: gene with protein product
Rare disease: Partial hydatidiform mole (Orphanet code 254693)
Associated genes:
Name: NLR family pyrin domain containing 7
Symbol: NLRP7
Synonyms: lang: en
text: CLR19.4
lang: en
text: NOD12
lang: en
text: PAN7
lang: en
text: PYPAF3
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7
GeneType: Name: gene with protein product
Name: KH domain containing 3 like, subcortical maternal complex member
Symbol: KHDC3L
Synonyms: lang: en
text: ECAT1
lang: en
text: ES cell associated transcript 1
GeneType: Name: gene with protein product
Rare disease: Papilloma of choroid plexus (Orphanet code 2807)
Associated genes:
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Rare disease: Papillon-Lefèvre syndrome (Orphanet code 678)
Associated genes:
Name: cathepsin C
Symbol: CTSC
Synonyms: lang: en
text: DPP1
lang: en
text: dipeptidyl peptidase 1
GeneType: Name: gene with protein product
Rare disease: Genetic hyperferritinemia without iron overload (Orphanet code 254704)
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
Rare disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (Orphanet code 254534)
Associated genes:
Name: delta like non-canonical Notch ligand 1
Symbol: DLK1
Synonyms: lang: en
text: Delta1
lang: en
text: FA1
lang: en
text: Pref-1
lang: en
text: ZOG
lang: en
text: pG2
GeneType: Name: gene with protein product
Name: maternally expressed 3
Symbol: MEG3
Synonyms: lang: en
text: GTL2
lang: en
text: LINC00023
lang: en
text: NCRNA00023
lang: en
text: gene trap locus 2
lang: en
text: long intergenic non-protein coding RNA 23
lang: en
text: non-protein coding RNA 23
lang: en
text: onco-lncRNA-83
GeneType: Name: Non-coding RNA
Name: retrotransposon Gag like 1
Symbol: RTL1
Synonyms: lang: en
text: HUR1
lang: en
text: MART1
lang: en
text: Mar1
lang: en
text: PEG11
lang: en
text: SIRH2
lang: en
text: Sushi-Ichi retrotransposon homolog 2
lang: en
text: mammalian retrotransposon-derived 1
lang: en
text: paternally expressed 11
GeneType: Name: gene with protein product
Rare disease: X-linked sideroblastic anemia and spinocerebellar ataxia (Orphanet code 2802)
Associated genes:
Name: ATP binding cassette subfamily B member 7
Symbol: ABCB7
Synonyms: lang: en
text: ASAT
lang: en
text: Atm1p
lang: en
text: EST140535
GeneType: Name: gene with protein product
Rare disease: Temple syndrome due to paternal 14q32.2 hypomethylation (Orphanet code 254531)
Associated genes:
Name: retrotransposon Gag like 1
Symbol: RTL1
Synonyms: lang: en
text: HUR1
lang: en
text: MART1
lang: en
text: Mar1
lang: en
text: PEG11
lang: en
text: SIRH2
lang: en
text: Sushi-Ichi retrotransposon homolog 2
lang: en
text: mammalian retrotransposon-derived 1
lang: en
text: paternally expressed 11
GeneType: Name: gene with protein product
Name: maternally expressed 3
Symbol: MEG3
Synonyms: lang: en
text: GTL2
lang: en
text: LINC00023
lang: en
text: NCRNA00023
lang: en
text: gene trap locus 2
lang: en
text: long intergenic non-protein coding RNA 23
lang: en
text: non-protein coding RNA 23
lang: en
text: onco-lncRNA-83
GeneType: Name: Non-coding RNA
Name: delta like non-canonical Notch ligand 1
Symbol: DLK1
Synonyms: lang: en
text: Delta1
lang: en
text: FA1
lang: en
text: Pref-1
lang: en
text: ZOG
lang: en
text: pG2
GeneType: Name: gene with protein product