TaoMedAI/RareMedData huggingface dataset:
Rare disease: Multiple epiphyseal dysplasia type 7 (Orphanet code 647676)
Associated genes:
Name: calcium activated nucleotidase 1
Symbol: CANT1
Synonyms: lang: en
text: SCAN-1
lang: en
text: SHAPY
lang: en
text: Soluble Ca-Activated Nucleotidase, isozyme 1
lang: en
text: apyrase 1 homolog (C. lectularius)
GeneType: Name: gene with protein product
Rare disease: Intermediate collagen VI-related muscular dystrophy (Orphanet code 646113)
Associated genes:
Name: collagen type VI alpha 1 chain
Symbol: COL6A1
GeneType: Name: gene with protein product
Name: collagen type VI alpha 2 chain
Symbol: COL6A2
GeneType: Name: gene with protein product
Name: collagen type VI alpha 3 chain
Symbol: COL6A3
GeneType: Name: gene with protein product
Rare disease: CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome (Orphanet code 646278)
Associated genes:
Name: cyclin dependent kinase 13
Symbol: CDK13
Synonyms: lang: en
text: CDC2L
lang: en
text: CHED
lang: en
text: KIAA1791
lang: en
text: cholinesterase-related cell division controller
GeneType: Name: gene with protein product
Rare disease: ACys amyloidosis (Orphanet code 100008)
Associated genes:
Name: cystatin C
Symbol: CST3
GeneType: Name: gene with protein product
Rare disease: Collagen VI-related congenital muscular dystrophy (Orphanet code 646098)
Associated genes:
Name: collagen type VI alpha 1 chain
Symbol: COL6A1
GeneType: Name: gene with protein product
Name: collagen type VI alpha 2 chain
Symbol: COL6A2
GeneType: Name: gene with protein product
Name: collagen type VI alpha 3 chain
Symbol: COL6A3
GeneType: Name: gene with protein product
Rare disease: ABeta amyloidosis, Dutch type (Orphanet code 100006)
Associated genes:
Name: amyloid beta precursor protein
Symbol: APP
Synonyms: lang: en
text: alpha-sAPP
lang: en
text: peptidase nexin-II
GeneType: Name: gene with protein product
Rare disease: Intermediate DEND syndrome (Orphanet code 99989)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 11
Symbol: KCNJ11
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 11
lang: en
text: BIR
lang: en
text: Kir6.2
lang: en
text: beta-cell inward rectifier
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of the esophagus (Orphanet code 99977)
Associated genes:
Name: WW domain containing oxidoreductase
Symbol: WWOX
Synonyms: lang: en
text: FOR
lang: en
text: SDR41C1
lang: en
text: WOX1
lang: en
text: short chain dehydrogenase/reductase family 41C, member 1
GeneType: Name: gene with protein product
Name: ring finger protein 6
Symbol: RNF6
Synonyms: lang: en
text: DKFZp686P0776
lang: en
text: RING-H2 protein RNF-6
GeneType: Name: gene with protein product
Name: transforming growth factor beta receptor 2
Symbol: TGFBR2
Synonyms: lang: en
text: TBR-ii
lang: en
text: TBRII
GeneType: Name: gene with protein product
Name: DLEC1 cilia and flagella associated protein
Symbol: DLEC1
Synonyms: lang: en
text: CFAP81
lang: en
text: DLC1
lang: en
text: FAP81
lang: en
text: cilia and flagella associated protein 81
GeneType: Name: gene with protein product
Rare disease: Well-differentiated liposarcoma (Orphanet code 99971)
Associated genes:
Name: cyclin dependent kinase 4
Symbol: CDK4
Synonyms: lang: en
text: PSK-J3
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: MDM2 proto-oncogene
Symbol: MDM2
Synonyms: lang: en
text: HDM2
lang: en
text: MGC5370
GeneType: Name: gene with protein product
Rare disease: Dedifferentiated liposarcoma (Orphanet code 99970)
Associated genes:
Name: cyclin dependent kinase 4
Symbol: CDK4
Synonyms: lang: en
text: PSK-J3
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: MDM2 proto-oncogene
Symbol: MDM2
Synonyms: lang: en
text: HDM2
lang: en
text: MGC5370
GeneType: Name: gene with protein product
Rare disease: Myxoid/round cell liposarcoma (Orphanet code 99967)
Associated genes:
Name: FUS RNA binding protein
Symbol: FUS
Synonyms: lang: en
text: FUS1
lang: en
text: HNRNPP2
lang: en
text: TLS
lang: en
text: heterogeneous nuclear ribonucleoprotein P2
lang: en
text: hnRNP-P2
lang: en
text: translocated in liposarcoma
GeneType: Name: gene with protein product
Name: DNA damage inducible transcript 3
Symbol: DDIT3
Synonyms: lang: en
text: C/EBP homologous protein
lang: en
text: C/EBP zeta
lang: en
text: CHOP
lang: en
text: CHOP10
lang: en
text: GADD153
lang: en
text: growth arrest and DNA-damage-inducible gene
GeneType: Name: gene with protein product
Rare disease: Atypical teratoid rhabdoid tumor (Orphanet code 99966)
Associated genes:
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Symbol: SMARCB1
Synonyms: lang: en
text: BAF47
lang: en
text: INI-1
lang: en
text: Ini1
lang: en
text: PPP1R144
lang: en
text: RDT
lang: en
text: SNF5
lang: en
text: Sfh1p
lang: en
text: Snr1
lang: en
text: hSNFS
lang: en
text: integrase interactor 1
lang: en
text: malignant rhabdoid tumor suppressor
lang: en
text: protein phosphatase 1, regulatory subunit 144
lang: en
text: sucrose nonfermenting, yeast, homolog-like 1
GeneType: Name: gene with protein product
Rare disease: Benign recurrent intrahepatic cholestasis type 2 (Orphanet code 99961)
Associated genes:
Name: ATP binding cassette subfamily B member 11
Symbol: ABCB11
Synonyms: lang: en
text: ABC member 16, MDR/TAP subfamily
lang: en
text: ABC16
lang: en
text: PFIC-2
lang: en
text: PGY4
lang: en
text: SPGP
GeneType: Name: gene with protein product
Rare disease: Benign recurrent intrahepatic cholestasis type 1 (Orphanet code 99960)
Associated genes:
Name: ATPase phospholipid transporting 8B1
Symbol: ATP8B1
Synonyms: lang: en
text: ATPIC
lang: en
text: PFIC
GeneType: Name: gene with protein product
Rare disease: Hao-Fountain syndrome due to USP7 mutation (Orphanet code 643538)
Associated genes:
Name: ubiquitin specific peptidase 7
Symbol: USP7
GeneType: Name: gene with protein product
Rare disease: Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome (Orphanet code 643503)
Associated genes:
Name: ABL proto-oncogene 1, non-receptor tyrosine kinase
Symbol: ABL1
Synonyms: lang: en
text: JTK7
lang: en
text: c-ABL
lang: en
text: p150
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4B1 (Orphanet code 99955)
Associated genes:
Name: myotubularin related protein 2
Symbol: MTMR2
Synonyms: lang: en
text: KIAA1073
lang: en
text: phosphatidylinositol-3-phosphatase
lang: en
text: phosphoinositide-3-phosphatase
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4B2 (Orphanet code 99956)
Associated genes:
Name: SET binding factor 2
Symbol: SBF2
Synonyms: lang: en
text: DENND7B
lang: en
text: KIAA1766
lang: en
text: MTMR13
lang: en
text: myotubularin related 13
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4A (Orphanet code 99948)
Associated genes:
Name: ganglioside induced differentiation associated protein 1
Symbol: GDAP1
Synonyms: lang: en
text: CMT2K
lang: en
text: CMT4
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet code 99947)
Associated genes:
Name: mitofusin 2
Symbol: MFN2
Synonyms: lang: en
text: CMT2A2
lang: en
text: CPRP1
lang: en
text: KIAA0214
lang: en
text: MARF
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4D (Orphanet code 99950)
Associated genes:
Name: N-myc downstream regulated 1
Symbol: NDRG1
Synonyms: lang: en
text: DRG1
lang: en
text: NDR1
lang: en
text: RTP
lang: en
text: TDD5
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4C (Orphanet code 99949)
Associated genes:
Name: SH3 domain and tetratricopeptide repeats 2
Symbol: SH3TC2
Synonyms: lang: en
text: CMT4C
lang: en
text: KIAA1985
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4F (Orphanet code 99952)
Associated genes:
Name: periaxin
Symbol: PRX
Synonyms: lang: en
text: KIAA1620
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4E (Orphanet code 99951)
Associated genes:
Name: early growth response 2
Symbol: EGR2
Synonyms: lang: en
text: Krox-20 homolog, Drosophila
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4H (Orphanet code 99954)
Associated genes:
Name: FYVE, RhoGEF and PH domain containing 4
Symbol: FGD4
Synonyms: lang: en
text: CMT4H
lang: en
text: FRABP
lang: en
text: Frabin
lang: en
text: ZFYVE6
lang: en
text: frabin
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4G (Orphanet code 99953)
Associated genes:
Name: hexokinase 1
Symbol: HK1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2F (Orphanet code 99940)
Associated genes:
Name: heat shock protein family B (small) member 1
Symbol: HSPB1
Synonyms: lang: en
text: CMT2F
lang: en
text: HSP27
lang: en
text: HSP28
lang: en
text: Hs.76067
lang: en
text: Hsp25
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet code 99939)
Associated genes:
Name: neurofilament light chain
Symbol: NEFL
Synonyms: lang: en
text: CMT1F
lang: en
text: CMT2E
lang: en
text: NF68
lang: en
text: NFL
lang: en
text: PPP1R110
lang: en
text: protein phosphatase 1, regulatory subunit 110
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2I (Orphanet code 99942)
Associated genes:
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2K (Orphanet code 99944)
Associated genes:
Name: ganglioside induced differentiation associated protein 1
Symbol: GDAP1
Synonyms: lang: en
text: CMT2K
lang: en
text: CMT4
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet code 99943)
Associated genes:
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (Orphanet code 99946)
Associated genes:
Name: kinesin family member 1B
Symbol: KIF1B
Synonyms: lang: en
text: Charcot-Marie-Tooth neuropathy type II
lang: en
text: HMSNII
lang: en
text: KIAA0591
lang: en
text: KLP
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2L (Orphanet code 99945)
Associated genes:
Name: heat shock protein family B (small) member 8
Symbol: HSPB8
Synonyms: lang: en
text: CMT2L
lang: en
text: E2IG1
lang: en
text: H11
lang: en
text: HSP22
lang: en
text: HspB8
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2B (Orphanet code 99936)
Associated genes:
Name: RAB7A, member RAS oncogene family
Symbol: RAB7A
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2C (Orphanet code 99937)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 4
Symbol: TRPV4
Synonyms: lang: en
text: CMT2C
lang: en
text: OTRPC4
lang: en
text: TRP12
lang: en
text: VR-OAC
lang: en
text: VRL-2
lang: en
text: VROAC
lang: en
text: osmosensitive transient receptor potential channel 4
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2D (Orphanet code 99938)
Associated genes:
Name: glycyl-tRNA synthetase 1
Symbol: GARS1
Synonyms: lang: en
text: DSMAV
lang: en
text: GlyRS
lang: en
text: SMAD1
lang: en
text: glycine tRNA ligase
GeneType: Name: gene with protein product
Rare disease: Ferroportin disease (Orphanet code 648562)
Associated genes:
Name: solute carrier family 40 member 1
Symbol: SLC40A1
Synonyms: lang: en
text: FPN
lang: en
text: FPN1
lang: en
text: HFE4
lang: en
text: IREG1
lang: en
text: MTP1
lang: en
text: SLC40 iron transporter
lang: en
text: ferroportin 1
lang: en
text: iron regulated gene 1
GeneType: Name: gene with protein product
Rare disease: Digenic hemochromatosis (Orphanet code 648581)
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
Name: hemojuvelin BMP co-receptor
Symbol: HJV
Synonyms: lang: en
text: HFE2A
lang: en
text: HJV
lang: en
text: JH
lang: en
text: RGMC
lang: en
text: haemojuvelin
lang: en
text: hemojuvelin
lang: en
text: repulsive guidance molecule c
GeneType: Name: gene with protein product
Name: hepcidin antimicrobial peptide
Symbol: HAMP
Synonyms: lang: en
text: HEPC
lang: en
text: HFE2B
lang: en
text: LEAP-1
lang: en
text: LEAP1
GeneType: Name: gene with protein product
Name: transferrin receptor 2
Symbol: TFR2
Synonyms: lang: en
text: HFE3
lang: en
text: TFRC2
GeneType: Name: gene with protein product
Rare disease: Malignant Sertoli-Leydig cell tumor of the ovary (Orphanet code 99916)
Associated genes:
Name: dicer 1, ribonuclease III
Symbol: DICER1
Synonyms: lang: en
text: Dicer
lang: en
text: HERNA
lang: en
text: K12H4.8-LIKE
lang: en
text: KIAA0928
lang: en
text: dicer 1, double-stranded RNA-specific endoribonuclease
GeneType: Name: gene with protein product
Rare disease: Malignant granulosa cell tumor of the ovary (Orphanet code 99915)
Associated genes:
Name: forkhead box L2
Symbol: FOXL2
Synonyms: lang: en
text: BPES1
GeneType: Name: gene with protein product
Name: dicer 1, ribonuclease III
Symbol: DICER1
Synonyms: lang: en
text: Dicer
lang: en
text: HERNA
lang: en
text: K12H4.8-LIKE
lang: en
text: KIAA0928
lang: en
text: dicer 1, double-stranded RNA-specific endoribonuclease
GeneType: Name: gene with protein product
Rare disease: Gynandroblastoma (Orphanet code 99914)
Associated genes:
Name: dicer 1, ribonuclease III
Symbol: DICER1
Synonyms: lang: en
text: Dicer
lang: en
text: HERNA
lang: en
text: K12H4.8-LIKE
lang: en
text: KIAA0928
lang: en
text: dicer 1, double-stranded RNA-specific endoribonuclease
GeneType: Name: gene with protein product
Rare disease: Keratitis fugax hereditaria (Orphanet code 647815)
Associated genes:
Name: NLR family pyrin domain containing 3
Symbol: NLRP3
Synonyms: lang: en
text: AGTAVPRL
lang: en
text: AII
lang: en
text: AVP
lang: en
text: CLR1.1
lang: en
text: Cryopyrin
lang: en
text: FCAS
lang: en
text: FCU
lang: en
text: MWS
lang: en
text: NALP3
lang: en
text: PYPAF1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
GeneType: Name: gene with protein product
Rare disease: Acyl-CoA dehydrogenase 9 deficiency (Orphanet code 99901)
Associated genes:
Name: acyl-CoA dehydrogenase family member 9
Symbol: ACAD9
Synonyms: lang: en
text: MGC14452
lang: en
text: NPD002
GeneType: Name: gene with protein product
Rare disease: Cardiac-urogenital syndrome (Orphanet code 647811)
Associated genes:
Name: myelin regulatory factor
Symbol: MYRF
Synonyms: lang: en
text: MRF
lang: en
text: Ndt80
lang: en
text: myelin gene regulatory factor
lang: en
text: pqn-47
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to FCHO1 deficiency (Orphanet code 647804)
Associated genes:
Name: FCH and mu domain containing endocytic adaptor 1
Symbol: FCHO1
Synonyms: lang: en
text: KIAA0290
GeneType: Name: gene with protein product
Rare disease: SLC40A1-related hemochromatosis (Orphanet code 647834)
Associated genes:
Name: solute carrier family 40 member 1
Symbol: SLC40A1
Synonyms: lang: en
text: FPN
lang: en
text: FPN1
lang: en
text: HFE4
lang: en
text: IREG1
lang: en
text: MTP1
lang: en
text: SLC40 iron transporter
lang: en
text: ferroportin 1
lang: en
text: iron regulated gene 1
GeneType: Name: gene with protein product
Rare disease: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome (Orphanet code 647681)
Associated genes:
Name: ETS2 repressor factor
Symbol: ERF
Synonyms: lang: en
text: PE-2
lang: en
text: PE2
GeneType: Name: gene with protein product
Rare disease: MYT1L-related developmental delay-intellectual disability-obesity syndrome (Orphanet code 647799)
Associated genes:
Name: myelin transcription factor 1 like
Symbol: MYT1L
Synonyms: lang: en
text: KIAA1106
lang: en
text: NZF1
lang: en
text: ZC2H2C2
lang: en
text: ZC2HC4B
lang: en
text: neural zinc finger transcription factor 1
GeneType: Name: gene with protein product
Rare disease: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency (Orphanet code 99898)
Associated genes:
Name: interferon gamma receptor 1
Symbol: IFNGR1
Synonyms: lang: en
text: CD119
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome (Orphanet code 647788)
Associated genes:
Name: DExH-box helicase 30
Symbol: DHX30
Synonyms: lang: en
text: FLJ11214
lang: en
text: KIAA0890
GeneType: Name: gene with protein product
Rare disease: Familial isolated hyperparathyroidism (Orphanet code 99879)
Associated genes:
Name: glial cells missing transcription factor 2
Symbol: GCM2
Synonyms: lang: en
text: hGCMb
GeneType: Name: gene with protein product
Name: cell division cycle 73
Symbol: CDC73
Synonyms: lang: en
text: FIHP
lang: en
text: Paf1/RNA polymerase II complex component
lang: en
text: parafibromin
GeneType: Name: gene with protein product
Name: menin 1
Symbol: MEN1
Synonyms: lang: en
text: menin
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency (Orphanet code 656283)
Associated genes:
Name: interleukin 6 cytokine family signal transducer
Symbol: IL6ST
Synonyms: lang: en
text: CD130
lang: en
text: GP130
lang: en
text: IL-6RB
lang: en
text: Interleukin-6 receptor subunit beta
lang: en
text: gp130, oncostatin M receptor
lang: en
text: membrane glycoprotein 130
lang: en
text: sGP130
GeneType: Name: gene with protein product
Rare disease: 1p36.33 duplication syndrome (Orphanet code 656279)
Associated genes:
Name: ATPase family AAA domain containing 3A
Symbol: ATAD3A
Synonyms: lang: en
text: FLJ10709
GeneType: Name: gene with protein product
Name: ATPase family AAA domain containing 3B
Symbol: ATAD3B
Synonyms: lang: en
text: KIAA1273
lang: en
text: TOB3
GeneType: Name: gene with protein product
Name: ATPase family AAA domain containing 3C
Symbol: ATAD3C
Synonyms: lang: en
text: FLJ34599
GeneType: Name: gene with protein product
Rare disease: Hyperparathyroidism-jaw tumor syndrome (Orphanet code 99880)
Associated genes:
Name: cell division cycle 73
Symbol: CDC73
Synonyms: lang: en
text: FIHP
lang: en
text: Paf1/RNA polymerase II complex component
lang: en
text: parafibromin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency (Orphanet code 656313)
Associated genes:
Name: interleukin 6 cytokine family signal transducer
Symbol: IL6ST
Synonyms: lang: en
text: CD130
lang: en
text: GP130
lang: en
text: IL-6RB
lang: en
text: Interleukin-6 receptor subunit beta
lang: en
text: gp130, oncostatin M receptor
lang: en
text: membrane glycoprotein 130
lang: en
text: sGP130
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency (Orphanet code 656300)
Associated genes:
Name: interleukin 6 cytokine family signal transducer
Symbol: IL6ST
Synonyms: lang: en
text: CD130
lang: en
text: GP130
lang: en
text: IL-6RB
lang: en
text: Interleukin-6 receptor subunit beta
lang: en
text: gp130, oncostatin M receptor
lang: en
text: membrane glycoprotein 130
lang: en
text: sGP130
GeneType: Name: gene with protein product
Rare disease: PBX1-related congenital anomalies of kidney and urinary tract syndrome (Orphanet code 656130)
Associated genes:
Name: PBX homeobox 1
Symbol: PBX1
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-cupped ears syndrome (Orphanet code 656135)
Associated genes:
Name: POU class 3 homeobox 3
Symbol: POU3F3
Synonyms: lang: en
text: BRN1
lang: en
text: OTF8
GeneType: Name: gene with protein product
Rare disease: Acute megakaryoblastic leukemia in children with Down syndrome (Orphanet code 99887)
Associated genes:
Name: GATA binding protein 1
Symbol: GATA1
Synonyms: lang: en
text: ERYF1
lang: en
text: GATA-1
lang: en
text: NF-E1
lang: en
text: NFE1
lang: en
text: nuclear factor, erythroid 1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant combined immunodeficiency due to ERBIN deficiency (Orphanet code 656912)
Associated genes:
Name: erbb2 interacting protein
Symbol: ERBIN
Synonyms: lang: en
text: ERBB2-interacting protein
lang: en
text: LAP2
lang: en
text: densin-180-like protein
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive combined immunodeficiency due to IL6R deficiency (Orphanet code 656326)
Associated genes:
Name: interleukin 6 receptor
Symbol: IL6R
Synonyms: lang: en
text: CD126
lang: en
text: IL-1Ra
lang: en
text: IL-6R
lang: en
text: IL6RA
lang: en
text: gp80
lang: en
text: interleukin 6 receptor subunit alpha
lang: en
text: membrane glycoprotein 80
GeneType: Name: gene with protein product
Rare disease: Isolated permanent neonatal diabetes mellitus (Orphanet code 99885)
Associated genes:
Name: signal transducer and activator of transcription 3
Symbol: STAT3
Synonyms: lang: en
text: APRF
GeneType: Name: gene with protein product
Name: glucokinase
Symbol: GCK
Synonyms: lang: en
text: HK4
lang: en
text: hexokinase 4
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 11
Symbol: KCNJ11
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 11
lang: en
text: BIR
lang: en
text: Kir6.2
lang: en
text: beta-cell inward rectifier
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
Name: insulin
Symbol: INS
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily C member 8
Symbol: ABCC8
Synonyms: lang: en
text: ABC36
lang: en
text: HHF1
lang: en
text: HI
lang: en
text: MRP8
lang: en
text: PHHI
lang: en
text: SUR1
lang: en
text: TNDM2
lang: en
text: sulfonylurea receptor (hyperinsulinemia)
GeneType: Name: gene with protein product
Rare disease: Transient neonatal diabetes mellitus (Orphanet code 99886)
Associated genes:
Name: ATP binding cassette subfamily C member 8
Symbol: ABCC8
Synonyms: lang: en
text: ABC36
lang: en
text: HHF1
lang: en
text: HI
lang: en
text: MRP8
lang: en
text: PHHI
lang: en
text: SUR1
lang: en
text: TNDM2
lang: en
text: sulfonylurea receptor (hyperinsulinemia)
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 11
Symbol: KCNJ11
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 11
lang: en
text: BIR
lang: en
text: Kir6.2
lang: en
text: beta-cell inward rectifier
GeneType: Name: gene with protein product
Name: hydatidiform mole associated and imprinted
Symbol: HYMAI
Synonyms: lang: en
text: NCRNA00020
lang: en
text: non-protein coding RNA 20
GeneType: Name: Non-coding RNA
Name: PLAG1 like zinc finger 1
Symbol: PLAGL1
Synonyms: lang: en
text: LOT1
lang: en
text: ZAC
GeneType: Name: gene with protein product
Name: ZFP57 zinc finger protein
Symbol: ZFP57
Synonyms: lang: en
text: ZNF698
lang: en
text: bA145L22
lang: en
text: bA145L22.2
GeneType: Name: gene with protein product