TaoMedAI/RareMedData huggingface dataset:
Rare disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (Orphanet code 177904)
Associated genes:
Name: small nucleolar RNA, C/D box 115 cluster
Symbol: SNORD115@
Synonyms: lang: en
text: HBII-52
GeneType: Name: Non-coding RNA
Name: small nuclear ribonucleoprotein polypeptide N
Symbol: SNRPN
Synonyms: lang: en
text: HCERN3
lang: en
text: RT-LI
lang: en
text: SM protein N
lang: en
text: SM-D
lang: en
text: SMN
lang: en
text: SNRNP-N
lang: en
text: SNURF-SNRPN
lang: en
text: small nuclear ribonucleoprotein N
lang: en
text: tissue-specific splicing protein
GeneType: Name: gene with protein product
Name: MAGE family member L2
Symbol: MAGEL2
Synonyms: lang: en
text: nM15
GeneType: Name: gene with protein product
Name: necdin, MAGE family member
Symbol: NDN
Synonyms: lang: en
text: HsT16328
lang: en
text: PWCR
lang: en
text: Prader-Willi syndrome chromosome region
GeneType: Name: gene with protein product
Name: OCA2 melanosomal transmembrane protein
Symbol: OCA2
Synonyms: lang: en
text: BEY
lang: en
text: BEY1
lang: en
text: BEY2
lang: en
text: EYCL
lang: en
text: P-protein
lang: en
text: melanocyte-specific transporter protein
GeneType: Name: gene with protein product
Name: small nucleolar RNA, C/D box 116 cluster
Symbol: SNORD116@
Synonyms: lang: en
text: HBII-85
lang: en
text: PET1
GeneType: Name: Non-coding RNA
Rare disease: Prader-Willi syndrome due to translocation (Orphanet code 177907)
Associated genes:
Name: small nuclear ribonucleoprotein polypeptide N
Symbol: SNRPN
Synonyms: lang: en
text: HCERN3
lang: en
text: RT-LI
lang: en
text: SM protein N
lang: en
text: SM-D
lang: en
text: SMN
lang: en
text: SNRNP-N
lang: en
text: SNURF-SNRPN
lang: en
text: small nuclear ribonucleoprotein N
lang: en
text: tissue-specific splicing protein
GeneType: Name: gene with protein product
Rare disease: Prader-Willi syndrome due to imprinting mutation (Orphanet code 177910)
Associated genes:
Name: small nucleolar RNA, C/D box 115 cluster
Symbol: SNORD115@
Synonyms: lang: en
text: HBII-52
GeneType: Name: Non-coding RNA
Name: small nuclear ribonucleoprotein polypeptide N
Symbol: SNRPN
Synonyms: lang: en
text: HCERN3
lang: en
text: RT-LI
lang: en
text: SM protein N
lang: en
text: SM-D
lang: en
text: SMN
lang: en
text: SNRNP-N
lang: en
text: SNURF-SNRPN
lang: en
text: small nuclear ribonucleoprotein N
lang: en
text: tissue-specific splicing protein
GeneType: Name: gene with protein product
Name: MAGE family member L2
Symbol: MAGEL2
Synonyms: lang: en
text: nM15
GeneType: Name: gene with protein product
Name: necdin, MAGE family member
Symbol: NDN
Synonyms: lang: en
text: HsT16328
lang: en
text: PWCR
lang: en
text: Prader-Willi syndrome chromosome region
GeneType: Name: gene with protein product
Name: small nucleolar RNA, C/D box 116 cluster
Symbol: SNORD116@
Synonyms: lang: en
text: HBII-85
lang: en
text: PET1
GeneType: Name: Non-coding RNA
Rare disease: Hirschsprung disease (Orphanet code 388)
Associated genes:
Name: ATPase copper transporting alpha
Symbol: ATP7A
Synonyms: lang: en
text: copper pump 1
lang: en
text: copper-transporting ATPase 1
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily D member 1
Symbol: ABCD1
Synonyms: lang: en
text: ALDP
lang: en
text: AMN
lang: en
text: adrenoleukodystrophy
GeneType: Name: gene with protein product
Name: erb-b2 receptor tyrosine kinase 2
Symbol: ERBB2
Synonyms: lang: en
text: CD340
lang: en
text: HER-2
lang: en
text: HER2
lang: en
text: MLN-19
lang: en
text: NEU
lang: en
text: c-ERB-2
lang: en
text: c-ERB2
lang: en
text: human epidermal growth factor receptor 2
lang: en
text: metastatic lymph node gene 19
lang: en
text: neuro/glioblastoma derived oncogene homolog
lang: en
text: p185(erbB2)
GeneType: Name: gene with protein product
Name: erb-b2 receptor tyrosine kinase 3
Symbol: ERBB3
Synonyms: lang: en
text: HER3
lang: en
text: human epidermal growth factor receptor 3
GeneType: Name: gene with protein product
Name: smoothened, frizzled class receptor
Symbol: SMO
Synonyms: lang: en
text: FZD11
lang: en
text: frizzled family member 11
GeneType: Name: gene with protein product
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Name: endothelin converting enzyme 1
Symbol: ECE1
GeneType: Name: gene with protein product
Name: endothelin 3
Symbol: EDN3
Synonyms: lang: en
text: ET3
GeneType: Name: gene with protein product
Name: endothelin receptor type B
Symbol: EDNRB
Synonyms: lang: en
text: ETB
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: neurturin
Symbol: NRTN
Synonyms: lang: en
text: NTN
lang: en
text: prepro-neurturin
GeneType: Name: gene with protein product
Name: semaphorin 3C
Symbol: SEMA3C
Synonyms: lang: en
text: SemE
GeneType: Name: gene with protein product
Name: semaphorin 3D
Symbol: SEMA3D
Synonyms: lang: en
text: Sema-Z2
lang: en
text: coll-2
GeneType: Name: gene with protein product
Name: sterol regulatory element binding transcription factor 1
Symbol: SREBF1
Synonyms: lang: en
text: SREBP-1c
lang: en
text: SREBP1
lang: en
text: SREBP1a
lang: en
text: Sterol regulatory element-binding protein 1
lang: en
text: bHLHd1
GeneType: Name: gene with protein product
Rare disease: Åland Islands eye disease (Orphanet code 178333)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 F
Symbol: CACNA1F
Synonyms: lang: en
text: CORDX3
lang: en
text: CSNB2A
lang: en
text: CSNBX2
lang: en
text: Cav1.4
lang: en
text: JM8
lang: en
text: JMC8
lang: en
text: OA2
GeneType: Name: gene with protein product
Rare disease: Purine nucleoside phosphorylase deficiency (Orphanet code 760)
Associated genes:
Name: purine nucleoside phosphorylase
Symbol: PNP
Synonyms: lang: en
text: PUNP
GeneType: Name: gene with protein product
Rare disease: Oculopharyngeal muscular dystrophy (Orphanet code 270)
Associated genes:
Name: poly(A) binding protein nuclear 1
Symbol: PABPN1
Synonyms: lang: en
text: PAB2
GeneType: Name: gene with protein product
Rare disease: Reticulate acropigmentation of Kitamura (Orphanet code 178307)
Associated genes:
Name: ADAM metallopeptidase domain 10
Symbol: ADAM10
Synonyms: lang: en
text: CD156C
lang: en
text: CD156c
lang: en
text: HsT18717
lang: en
text: MADM
lang: en
text: kuz
GeneType: Name: gene with protein product
Rare disease: Tuberous sclerosis complex (Orphanet code 805)
Associated genes:
Name: interferon gamma
Symbol: IFNG
GeneType: Name: gene with protein product
Name: TSC complex subunit 1
Symbol: TSC1
Synonyms: lang: en
text: KIAA0243
lang: en
text: LAM
lang: en
text: hamartin
GeneType: Name: gene with protein product
Name: TSC complex subunit 2
Symbol: TSC2
Synonyms: lang: en
text: LAM
lang: en
text: PPP1R160
lang: en
text: protein phosphatase 1, regulatory subunit 160
lang: en
text: tuberin
GeneType: Name: gene with protein product
Rare disease: Moderate multiminicore disease with hand involvement (Orphanet code 178145)
Associated genes:
Name: ryanodine receptor 1
Symbol: RYR1
Synonyms: lang: en
text: PPP1R137
lang: en
text: RYR
lang: en
text: protein phosphatase 1, regulatory subunit 137
GeneType: Name: gene with protein product
Rare disease: Alternating hemiplegia of childhood (Orphanet code 2131)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 A
Symbol: CACNA1A
Synonyms: lang: en
text: APCA
lang: en
text: Cav2.1
lang: en
text: EA2
lang: en
text: FHM
lang: en
text: HPCA
GeneType: Name: gene with protein product
Name: ATPase Na+/K+ transporting subunit alpha 2
Symbol: ATP1A2
Synonyms: lang: en
text: FHM2
lang: en
text: sodium pump subunit alpha-2
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-2
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-2
GeneType: Name: gene with protein product
Name: ATPase Na+/K+ transporting subunit alpha 3
Symbol: ATP1A3
Synonyms: lang: en
text: sodium pump subunit alpha-3
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-3
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-3
GeneType: Name: gene with protein product
Name: solute carrier family 1 member 3
Symbol: SLC1A3
Synonyms: lang: en
text: EA6
lang: en
text: EAAT1
lang: en
text: GLAST
lang: en
text: GLAST-1
lang: en
text: GLAST1
lang: en
text: excitatory amino acid transporter 1
lang: en
text: glutamate/aspartate transporter 1
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet code 713)
Associated genes:
Name: phosphoglycerate kinase 1
Symbol: PGK1
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to aldolase A deficiency (Orphanet code 57)
Associated genes:
Name: aldolase, fructose-bisphosphate A
Symbol: ALDOA
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant keratitis (Orphanet code 2334)
Associated genes:
Name: paired box 6
Symbol: PAX6
Synonyms: lang: en
text: AN
lang: en
text: Aniridia 1
lang: en
text: Aniridia 2
lang: en
text: D11S812E
lang: en
text: WAGR
lang: en
text: aniridia, keratitis
GeneType: Name: gene with protein product
Rare disease: Adenylosuccinate lyase deficiency (Orphanet code 46)
Associated genes:
Name: adenylosuccinate lyase
Symbol: ADSL
GeneType: Name: gene with protein product
Rare disease: Sialuria (Orphanet code 3166)
Associated genes:
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: Sitosterolemia (Orphanet code 2882)
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
Rare disease: Granulomatosis with polyangiitis (Orphanet code 900)
Associated genes:
Name: major histocompatibility complex, class II, DP alpha 1
Symbol: HLA-DPA1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DP beta 1
Symbol: HLA-DPB1
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: protein tyrosine phosphatase non-receptor type 22
Symbol: PTPN22
Synonyms: lang: en
text: Lyp
lang: en
text: Lyp1
lang: en
text: Lyp2
GeneType: Name: gene with protein product
Name: proteinase 3
Symbol: PRTN3
Synonyms: lang: en
text: ACPA
lang: en
text: AGP7
lang: en
text: C-ANCA
lang: en
text: MBT
lang: en
text: P29
lang: en
text: PR-3
lang: en
text: Wegener granulomatosis autoantigen
lang: en
text: myeloblastin
lang: en
text: serine proteinase, neutrophil
GeneType: Name: gene with protein product
Rare disease: Parkinsonian-pyramidal syndrome (Orphanet code 171695)
Associated genes:
Name: synuclein alpha
Symbol: SNCA
Synonyms: lang: en
text: NACP
lang: en
text: PD1
lang: en
text: a-synuclein
lang: en
text: alpha-synuclein
lang: en
text: non A4 component of amyloid precursor
GeneType: Name: gene with protein product
Name: F-box protein 7
Symbol: FBXO7
Synonyms: lang: en
text: FBX7
lang: en
text: Fbx
lang: en
text: PARK15
GeneType: Name: gene with protein product
Rare disease: Beta-ketothiolase deficiency (Orphanet code 134)
Associated genes:
Name: acetyl-CoA acetyltransferase 1
Symbol: ACAT1
Synonyms: lang: en
text: THIL
lang: en
text: acetoacetyl Coenzyme A thiolase
GeneType: Name: gene with protein product
Rare disease: Diffuse panbronchiolitis (Orphanet code 171700)
Associated genes:
Name: mucin like 3
Symbol: MUCL3
Synonyms: lang: en
text: C6orf37
lang: en
text: PBLT
lang: en
text: bCX105N19.6
GeneType: Name: gene with protein product
Name: mucin 5B, oligomeric mucus/gel-forming
Symbol: MUC5B
Synonyms: lang: en
text: MG1
lang: en
text: MUC-5B
lang: en
text: mucin MG1
GeneType: Name: gene with protein product
Rare disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (Orphanet code 171703)
Associated genes:
Name: eomesodermin
Symbol: EOMES
Synonyms: lang: en
text: T-box brain2
lang: en
text: TBR2
GeneType: Name: gene with protein product
Rare disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (Orphanet code 171706)
Associated genes:
Name: SECIS binding protein 2
Symbol: SECISBP2
Synonyms: lang: en
text: SBP2
lang: en
text: Sec insertion sequence-binding protein 2
lang: en
text: Selenocysteine insertion sequence-binding protein 2
GeneType: Name: gene with protein product
Rare disease: Male infertility due to globozoospermia (Orphanet code 171709)
Associated genes:
Name: C2 calcium dependent domain containing 6
Symbol: C2CD6
Synonyms: lang: en
text: FLJ25351
GeneType: Name: gene with protein product
Name: gametogenetin
Symbol: GGN
Synonyms: lang: en
text: FLJ35713
lang: en
text: MGC33369
GeneType: Name: gene with protein product
Name: septin 4
Symbol: SEPTIN4
Synonyms: lang: en
text: ARTS
lang: en
text: CE5B3
lang: en
text: FLJ40121
lang: en
text: H5
lang: en
text: MART
lang: en
text: Septin-4
lang: en
text: bradeoin
lang: en
text: hCDCREL-2
lang: en
text: hucep-7
lang: en
text: septin-M
GeneType: Name: gene with protein product
Name: golgi associated PDZ and coiled-coil motif containing
Symbol: GOPC
Synonyms: lang: en
text: CAL
lang: en
text: FIG
lang: en
text: GOPC1
lang: en
text: PIST
lang: en
text: dJ94G16.2
GeneType: Name: gene with protein product
Name: zona pellucida binding protein
Symbol: ZPBP
Synonyms: lang: en
text: SP38
lang: en
text: ZPBP1
GeneType: Name: gene with protein product
Name: spermatogenesis associated 16
Symbol: SPATA16
Synonyms: lang: en
text: NYD-SP12
GeneType: Name: gene with protein product
Name: dpy-19 like 2
Symbol: DPY19L2
Synonyms: lang: en
text: FLJ32949
lang: en
text: SPATA34
lang: en
text: spermatogenesis associated 34
GeneType: Name: gene with protein product
Name: protein interacting with PRKCA 1
Symbol: PICK1
Synonyms: lang: en
text: MGC15204
lang: en
text: dJ1039K5
GeneType: Name: gene with protein product
Rare disease: White sponge nevus (Orphanet code 171723)
Associated genes:
Name: keratin 4
Symbol: KRT4
Synonyms: lang: en
text: CK4
lang: en
text: K4
lang: en
text: cytokeratin 4
lang: en
text: keratin, type II cytoskeletal 4
GeneType: Name: gene with protein product
Name: keratin 13
Symbol: KRT13
Synonyms: lang: en
text: CK13
lang: en
text: K13
lang: en
text: MGC161462
lang: en
text: MGC3781
lang: en
text: cytokeratin 13
lang: en
text: keratin, type I cytoskeletal 13
GeneType: Name: gene with protein product
Rare disease: Lissencephaly due to TUBA1A mutation (Orphanet code 171680)
Associated genes:
Name: tubulin alpha 1a
Symbol: TUBA1A
Synonyms: lang: en
text: B-ALPHA-1
lang: en
text: FLJ25113
lang: en
text: TUBA3
lang: en
text: Tubulin, alpha, brain-specific
lang: en
text: tubulin, alpha, brain-specific
GeneType: Name: gene with protein product
Rare disease: Metabolic myopathy due to lactate transporter defect (Orphanet code 171690)
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: Autosomal dominant spastic paraplegia type 42 (Orphanet code 171863)
Associated genes:
Name: solute carrier family 33 member 1
Symbol: SLC33A1
Synonyms: lang: en
text: AT-1
lang: en
text: AT1
lang: en
text: Acetyl-CoA transporter 1
GeneType: Name: gene with protein product
Rare disease: Renal pseudohypoaldosteronism type 1 (Orphanet code 171871)
Associated genes:
Name: nuclear receptor subfamily 3 group C member 2
Symbol: NR3C2
Synonyms: lang: en
text: MR
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, aggrecan type (Orphanet code 171866)
Associated genes:
Name: aggrecan
Symbol: ACAN
Synonyms: lang: en
text: CSPGCP
lang: en
text: aggrecan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Cap myopathy (Orphanet code 171881)
Associated genes:
Name: myopalladin
Symbol: MYPN
Synonyms: lang: en
text: MYOP
lang: en
text: Sarcomeric protein myopalladin, 145 kDa
lang: en
text: sarcomeric protein myopalladin, 145 kDa
GeneType: Name: gene with protein product
Name: tropomyosin 2
Symbol: TPM2
Synonyms: lang: en
text: DA1
lang: en
text: NEM4
lang: en
text: nemaline myopathy type 4
GeneType: Name: gene with protein product
Name: tropomyosin 3
Symbol: TPM3
Synonyms: lang: en
text: TRK
GeneType: Name: gene with protein product
Rare disease: Generalized pseudohypoaldosteronism type 1 (Orphanet code 171876)
Associated genes:
Name: sodium channel epithelial 1 subunit alpha
Symbol: SCNN1A
Synonyms: lang: en
text: ENaCalpha
lang: en
text: amiloride-sensitive sodium channel subunit alpha
GeneType: Name: gene with protein product
Name: sodium channel epithelial 1 subunit beta
Symbol: SCNN1B
Synonyms: lang: en
text: ENaCbeta
lang: en
text: Liddle syndrome
lang: en
text: amiloride-sensitive sodium channel subunit beta
GeneType: Name: gene with protein product
Name: sodium channel epithelial 1 subunit gamma
Symbol: SCNN1G
Synonyms: lang: en
text: ENaCgamma
lang: en
text: SCNEG
lang: en
text: amiloride-sensitive sodium channel subunit gamma
GeneType: Name: gene with protein product
Rare disease: Sarcoidosis (Orphanet code 797)
Associated genes:
Name: butyrophilin like 2
Symbol: BTNL2
Synonyms: lang: en
text: BTL-II
lang: en
text: BTN7
lang: en
text: HSBLMHC1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Rare disease: 6q16 microdeletion syndrome (Orphanet code 171829)
Associated genes:
Name: SIM bHLH transcription factor 1
Symbol: SIM1
Synonyms: lang: en
text: bHLHe14
GeneType: Name: gene with protein product
Rare disease: MEDNIK syndrome (Orphanet code 171851)
Associated genes:
Name: adaptor related protein complex 1 subunit beta 1
Symbol: AP1B1
Synonyms: lang: en
text: AP105A
lang: en
text: BAM22
GeneType: Name: gene with protein product
Name: adaptor related protein complex 1 subunit sigma 1
Symbol: AP1S1
Synonyms: lang: en
text: AP-1 complex subunit sigma-1A
lang: en
text: AP19
lang: en
text: HA1 19 kDa subunit
lang: en
text: SIGMA1A
lang: en
text: WUGSC:H_DJ0747G18.2
lang: en
text: clathrin assembly protein complex 1 sigma-1A small chain
lang: en
text: clathrin coat assembly protein AP19
lang: en
text: clathrin-associated/assembly/adaptor protein, small 1 (19kD)
lang: en
text: golgi adaptor HA1/AP1 adaptin sigma-1A subunit
lang: en
text: sigma1A subunit of AP-1 clathrin adaptor complex
lang: en
text: sigma1A-adaptin
GeneType: Name: gene with protein product
Rare disease: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome (Orphanet code 171848)
Associated genes:
Name: abhydrolase domain containing 12, lysophospholipase
Symbol: ABHD12
Synonyms: lang: en
text: ABHD12A
lang: en
text: BEM46L2
lang: en
text: DKFZP434P106
lang: en
text: dJ965G21.2
GeneType: Name: gene with protein product
Rare disease: Tetralogy of Fallot (Orphanet code 3303)
Associated genes:
Name: kinase insert domain receptor
Symbol: KDR
Synonyms: lang: en
text: CD309
lang: en
text: FLK1
lang: en
text: VEGFR
lang: en
text: VEGFR2
lang: en
text: fetal liver kinase 1
lang: en
text: vascular endothelial growth factor receptor 2
GeneType: Name: gene with protein product
Name: zinc finger protein, FOG family member 2
Symbol: ZFPM2
Synonyms: lang: en
text: FOG2
lang: en
text: ZC2HC11B
lang: en
text: ZNF89B
lang: en
text: hFOG-2
GeneType: Name: gene with protein product
Name: GATA binding protein 4
Symbol: GATA4
GeneType: Name: gene with protein product
Name: jagged canonical Notch ligand 1
Symbol: JAG1
Synonyms: lang: en
text: AHD
lang: en
text: AWS
lang: en
text: CD339
lang: en
text: HJ1
GeneType: Name: gene with protein product
Name: NK2 homeobox 5
Symbol: NKX2-5
Synonyms: lang: en
text: CSX1
lang: en
text: NKX2.5
lang: en
text: NKX4-1
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Name: GATA binding protein 5
Symbol: GATA5
Synonyms: lang: en
text: GATAS
lang: en
text: bB379O24.1
GeneType: Name: gene with protein product
Name: gap junction protein alpha 5
Symbol: GJA5
Synonyms: lang: en
text: CX40
lang: en
text: connexin 40
GeneType: Name: gene with protein product
Name: NK2 homeobox 6
Symbol: NKX2-6
Synonyms: lang: en
text: CSX2
lang: en
text: NKX4-2
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Name: growth differentiation factor 1
Symbol: GDF1
GeneType: Name: gene with protein product
Name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Symbol: CITED2
Synonyms: lang: en
text: MRG1
GeneType: Name: gene with protein product
Name: GATA binding protein 6
Symbol: GATA6
GeneType: Name: gene with protein product
Name: fms related receptor tyrosine kinase 4
Symbol: FLT4
Synonyms: lang: en
text: Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4
lang: en
text: PCL
lang: en
text: VEGF receptor-3
lang: en
text: VEGFR-3
lang: en
text: VEGFR3
lang: en
text: primary congenital lymphedema
lang: en
text: vascular endothelial growth factor receptor 3
GeneType: Name: gene with protein product
Name: T-box transcription factor 1
Symbol: TBX1
Synonyms: lang: en
text: CATCH22
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency with factor I anomaly (Orphanet code 200418)
Associated genes:
Name: complement factor I
Symbol: CFI
Synonyms: lang: en
text: C3b-INA
lang: en
text: C3b-inactivator
lang: en
text: FI
lang: en
text: KAF
lang: en
text: Konglutinogen-activating factor
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant polycystic kidney disease (Orphanet code 730)
Associated genes:
Name: glucosidase II alpha subunit
Symbol: GANAB
Synonyms: lang: en
text: G2AN
lang: en
text: GIIA
lang: en
text: GIIalpha
lang: en
text: GluII
lang: en
text: KIAA0088
lang: en
text: neutral alpha-glucosidase AB
GeneType: Name: gene with protein product
Name: ALG9 alpha-1,2-mannosyltransferase
Symbol: ALG9
Synonyms: lang: en
text: dol-P-Man dependent alpha-1,2-mannosyltransferase
lang: en
text: dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
lang: en
text: dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
GeneType: Name: gene with protein product
Name: DnaJ heat shock protein family (Hsp40) member B11
Symbol: DNAJB11
Synonyms: lang: en
text: EDJ
lang: en
text: ERdj3
lang: en
text: HEDJ
GeneType: Name: gene with protein product
Name: ALG5 dolichyl-phosphate beta-glucosyltransferase
Symbol: ALG5
Synonyms: lang: en
text: bA421P11.2
GeneType: Name: gene with protein product
Name: polycystin 1, transient receptor potential channel interacting
Symbol: PKD1
Synonyms: lang: en
text: PBP
lang: en
text: Pc-1
lang: en
text: TRPP1
lang: en
text: polycystin 1
lang: en
text: transient receptor potential cation channel, subfamily P, member 1
GeneType: Name: gene with protein product
Name: polycystin 2, transient receptor potential cation channel
Symbol: PKD2
Synonyms: lang: en
text: PC2
lang: en
text: PKD4
lang: en
text: Pc-2
lang: en
text: TRPP2
lang: en
text: transient receptor potential cation channel, subfamily P, member 2
GeneType: Name: gene with protein product
Name: BicC family RNA binding protein 1
Symbol: BICC1
GeneType: Name: gene with protein product
Name: intraflagellar transport 140
Symbol: IFT140
Synonyms: lang: en
text: KIAA0590
lang: en
text: gs114
GeneType: Name: gene with protein product