TaoMedAI/RareMedData huggingface dataset:
Rare disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (Orphanet code 480864)
Associated genes:
Name: transport and golgi organization 2 homolog
Symbol: TANGO2
Synonyms: lang: en
text: DKFZp761P1121
GeneType: Name: gene with protein product
Rare disease: Pulmonary venoocclusive disease (Orphanet code 31837)
Associated genes:
Name: bone morphogenetic protein receptor type 2
Symbol: BMPR2
Synonyms: lang: en
text: BMPR-II
lang: en
text: BMPR3
lang: en
text: BRK-3
lang: en
text: T-ALK
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2 alpha kinase 4
Symbol: EIF2AK4
Synonyms: lang: en
text: GCN2
lang: en
text: KIAA1338
lang: en
text: eIF-2-alpha kinase
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (Orphanet code 480907)
Associated genes:
Name: TATA-box binding protein associated factor 1
Symbol: TAF1
Synonyms: lang: en
text: DYT3/TAF1
lang: en
text: KAT4
lang: en
text: NSCL2
lang: en
text: TAFII250
GeneType: Name: gene with protein product
Rare disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (Orphanet code 480898)
Associated genes:
Name: ER membrane protein complex subunit 1
Symbol: EMC1
GeneType: Name: gene with protein product
Rare disease: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (Orphanet code 480880)
Associated genes:
Name: ubiquitin specific peptidase 9 X-linked
Symbol: USP9X
Synonyms: lang: en
text: DFFRX
lang: en
text: FAF
lang: en
text: FAF-X
lang: en
text: MRX99
lang: en
text: fat facets-like, X-linked
GeneType: Name: gene with protein product
Rare disease: Hypersensitivity pneumonitis (Orphanet code 31740)
Associated genes:
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: Isolated neonatal sclerosing cholangitis (Orphanet code 480556)
Associated genes:
Name: doublecortin domain containing 2
Symbol: DCDC2
Synonyms: lang: en
text: DCDC2A
lang: en
text: KIAA1154
lang: en
text: NPHP19
lang: en
text: RU2
lang: en
text: nephronophthisis 19
GeneType: Name: gene with protein product
Rare disease: High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement (Orphanet code 480541)
Associated genes:
Name: BCL6 transcription repressor
Symbol: BCL6
Synonyms: lang: en
text: BCL5
lang: en
text: BCL6A
lang: en
text: LAZ3
lang: en
text: ZBTB27
GeneType: Name: gene with protein product
Name: MYC proto-oncogene, bHLH transcription factor
Symbol: MYC
Synonyms: lang: en
text: MYCC
lang: en
text: bHLHe39
lang: en
text: c-Myc
GeneType: Name: gene with protein product
Name: BCL2 apoptosis regulator
Symbol: BCL2
Synonyms: lang: en
text: Bcl-2
lang: en
text: PPP1R50
lang: en
text: protein phosphatase 1, regulatory subunit 50
GeneType: Name: gene with protein product
Rare disease: Infantile convulsions and choreoathetosis (Orphanet code 31709)
Associated genes:
Name: phosphodiesterase 2A
Symbol: PDE2A
GeneType: Name: gene with protein product
Name: proline rich transmembrane protein 2
Symbol: PRRT2
Synonyms: lang: en
text: DKFZp547J199
lang: en
text: DSPB3
lang: en
text: EKD1
lang: en
text: Episodic kinesigenic dyskinesia 1
lang: en
text: FICCA
lang: en
text: FLJ25513
lang: en
text: IFITMD1
lang: en
text: Interferon induced transmembrane protein domain containing 1
lang: en
text: PKC
lang: en
text: Paroxysmal kinesigenic dyskinesia
lang: en
text: dispanin subfamily B member 3
lang: en
text: interferon induced transmembrane protein domain containing 1
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 8
Symbol: SCN8A
Synonyms: lang: en
text: CIAT
lang: en
text: CerIII
lang: en
text: NaCh6
lang: en
text: Nav1.6
lang: en
text: PN4
GeneType: Name: gene with protein product
Rare disease: Hereditary thrombocytopenia with early-onset myelofibrosis (Orphanet code 480851)
Associated genes:
Name: SRC proto-oncogene, non-receptor tyrosine kinase
Symbol: SRC
Synonyms: lang: en
text: ASV
lang: en
text: c-src
GeneType: Name: gene with protein product
Rare disease: POGLUT1-related limb-girdle muscular dystrophy R21 (Orphanet code 480682)
Associated genes:
Name: protein O-glucosyltransferase 1
Symbol: POGLUT1
Synonyms: lang: en
text: 9630046K23Rik
lang: en
text: KDELC family like 1
lang: en
text: KDELCL1
lang: en
text: MDS010
lang: en
text: MDSRP
lang: en
text: MGC32995
lang: en
text: Rumi
lang: en
text: hCLP46
GeneType: Name: gene with protein product
Rare disease: USP18 deficiency (Orphanet code 481665)
Associated genes:
Name: ubiquitin specific peptidase 18
Symbol: USP18
Synonyms: lang: en
text: Ubl carboxyl-terminal hydrolase 18
GeneType: Name: gene with protein product
Rare disease: HTRA1-related autosomal dominant cerebral small vessel disease (Orphanet code 482077)
Associated genes:
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: Familial schizencephaly (Orphanet code 481986)
Associated genes:
Name: collagen type IV alpha 1 chain
Symbol: COL4A1
GeneType: Name: gene with protein product
Rare disease: PYCR2-related microcephaly-progressive leukoencephalopathy (Orphanet code 481152)
Associated genes:
Name: pyrroline-5-carboxylate reductase 2
Symbol: PYCR2
Synonyms: lang: en
text: P5CR2
GeneType: Name: gene with protein product
Rare disease: Familial Chilblain lupus (Orphanet code 481662)
Associated genes:
Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Symbol: SAMHD1
Synonyms: lang: en
text: AGS5
lang: en
text: Aicardi-Goutieres syndrome 5
lang: en
text: HD domain containing 1
lang: en
text: HDDC1
lang: en
text: MOP-5
lang: en
text: Mg11
lang: en
text: SBBI88
lang: en
text: monocyte protein 5
GeneType: Name: gene with protein product
Name: three prime repair exonuclease 1
Symbol: TREX1
Synonyms: lang: en
text: DRN3
GeneType: Name: gene with protein product
Name: stimulator of interferon response cGAMP interactor 1
Symbol: STING1
Synonyms: lang: en
text: ERIS
lang: en
text: FLJ38577
lang: en
text: MITA
lang: en
text: MPYS
lang: en
text: NET23
lang: en
text: STING
lang: en
text: endoplasmic reticulum IFN stimulator
lang: en
text: stimulator of interferon genes
GeneType: Name: gene with protein product
Rare disease: Progressive familial intrahepatic cholestasis type 5 (Orphanet code 480476)
Associated genes:
Name: nuclear receptor subfamily 1 group H member 4
Symbol: NR1H4
Synonyms: lang: en
text: FXR
lang: en
text: HRR-1
lang: en
text: HRR1
lang: en
text: RIP14
lang: en
text: bile acid receptor
lang: en
text: farnesoid X receptor
GeneType: Name: gene with protein product
Rare disease: MYO5B-related progressive familial intrahepatic cholestasis (Orphanet code 480491)
Associated genes:
Name: myosin VB
Symbol: MYO5B
Synonyms: lang: en
text: KIAA1119
GeneType: Name: gene with protein product
Rare disease: Progressive familial intrahepatic cholestasis type 4 (Orphanet code 480483)
Associated genes:
Name: tight junction protein 2
Symbol: TJP2
Synonyms: lang: en
text: Friedreich ataxia region gene X104 (tight junction protein ZO-2)
lang: en
text: X104
lang: en
text: ZO-2
lang: en
text: ZO2
lang: en
text: zona occludens 2
GeneType: Name: gene with protein product
Rare disease: Lethal hydranencephaly-diaphragmatic hernia syndrome (Orphanet code 480528)
Associated genes:
Name: plasminogen activator, tissue type
Symbol: PLAT
GeneType: Name: gene with protein product
Rare disease: MSH3-related attenuated familial adenomatous polyposis (Orphanet code 480536)
Associated genes:
Name: mutS homolog 3
Symbol: MSH3
Synonyms: lang: en
text: DUP
lang: en
text: Divergent upstream protein
lang: en
text: MRP1
lang: en
text: Mismatch repair protein 1
GeneType: Name: gene with protein product
Rare disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (Orphanet code 477814)
Associated genes:
Name: diaphanous related formin 1
Symbol: DIAPH1
Synonyms: lang: en
text: LFHL1
lang: en
text: hDIA1
lang: en
text: mDia1
lang: en
text: mammalian diaphanous related formin 1
GeneType: Name: gene with protein product
Rare disease: Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (Orphanet code 477787)
Associated genes:
Name: phospholipase A2 group IVA
Symbol: PLA2G4A
Synonyms: lang: en
text: cPLA2-alpha
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 29 (Orphanet code 478029)
Associated genes:
Name: thioredoxin 2
Symbol: TXN2
Synonyms: lang: en
text: MT-TRX
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 30 (Orphanet code 478042)
Associated genes:
Name: tRNA methyltransferase 10C, mitochondrial RNase P subunit
Symbol: TRMT10C
Synonyms: lang: en
text: FLJ20432
lang: en
text: MRPP1
lang: en
text: mitochondrial RNase P subunit 1
GeneType: Name: gene with protein product
Rare disease: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (Orphanet code 477993)
Associated genes:
Name: lysine demethylase 1A
Symbol: KDM1A
Synonyms: lang: en
text: BHC110
lang: en
text: KIAA0601
lang: en
text: LSD1
lang: en
text: Lysine-specific histone demethylase 1A
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (Orphanet code 477857)
Associated genes:
Name: RAR related orphan receptor C
Symbol: RORC
Synonyms: lang: en
text: NR1F3
lang: en
text: Nuclear receptor ROR-gamma
lang: en
text: RORG
lang: en
text: RZRG
lang: en
text: TOR
GeneType: Name: gene with protein product
Rare disease: PMP22-RAI1 contiguous gene duplication syndrome (Orphanet code 477817)
Associated genes:
Name: retinoic acid induced 1
Symbol: RAI1
Synonyms: lang: en
text: DKFZP434A139
lang: en
text: KIAA1820
lang: en
text: MGC12824
lang: en
text: SMS
GeneType: Name: gene with protein product
Rare disease: Kosaki overgrowth syndrome (Orphanet code 477831)
Associated genes:
Name: platelet derived growth factor receptor beta
Symbol: PDGFRB
Synonyms: lang: en
text: CD140b
lang: en
text: JTK12
lang: en
text: PDGFR1
GeneType: Name: gene with protein product
Rare disease: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome (Orphanet code 478049)
Associated genes:
Name: mitochondrial intermediate peptidase
Symbol: MIPEP
Synonyms: lang: en
text: MIP
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory and autonomic neuropathy type 8 (Orphanet code 478664)
Associated genes:
Name: PR/SET domain 12
Symbol: PRDM12
Synonyms: lang: en
text: PFM9
lang: en
text: PR-domain containing protein 12
lang: en
text: PR-domain zinc finger protein 12
GeneType: Name: gene with protein product
Rare disease: IL21-related infantile inflammatory bowel disease (Orphanet code 477661)
Associated genes:
Name: interleukin 21
Symbol: IL21
Synonyms: lang: en
text: IL-21
lang: en
text: Za11
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 26 (Orphanet code 477684)
Associated genes:
Name: tRNA methyltransferase 5
Symbol: TRMT5
Synonyms: lang: en
text: TRM5
lang: en
text: tRNA (guanine(37)-N1)-methyltransferase
GeneType: Name: gene with protein product
Rare disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (Orphanet code 477673)
Associated genes:
Name: glutamic--pyruvic transaminase 2
Symbol: GPT2
Synonyms: lang: en
text: ALT2
lang: en
text: alanine aminotransferase 2
GeneType: Name: gene with protein product
Rare disease: Pediatric multiple sclerosis (Orphanet code 477738)
Associated genes:
Name: major histocompatibility complex, class II, DQ beta 1
Symbol: HLA-DQB1
Synonyms: lang: en
text: CELIAC1
lang: en
text: IDDM1
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: Pontine autosomal dominant microangiopathy with leukoencephalopathy (Orphanet code 477749)
Associated genes:
Name: collagen type IV alpha 1 chain
Symbol: COL4A1
GeneType: Name: gene with protein product
Rare disease: Nodular fasciitis (Orphanet code 477742)
Associated genes:
Name: ubiquitin specific peptidase 6
Symbol: USP6
Synonyms: lang: en
text: TBC1D3 and USP32 fusion
lang: en
text: TRE17
lang: en
text: Tre-2
lang: en
text: Tre-2 oncogene
lang: en
text: Tre2
lang: en
text: ubiquitin carboxyl-terminal hydrolase 6
GeneType: Name: gene with protein product
Name: myosin heavy chain 9
Symbol: MYH9
Synonyms: lang: en
text: EPSTS
lang: en
text: FTNS
lang: en
text: MHA
lang: en
text: NMHC-II-A
lang: en
text: NMMHCA
lang: en
text: nonmuscle myosin heavy chain II-A
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 27 (Orphanet code 477774)
Associated genes:
Name: cysteinyl-tRNA synthetase 2, mitochondrial
Symbol: CARS2
Synonyms: lang: en
text: FLJ12118
lang: en
text: cysteine tRNA ligase 2, mitochondrial (putative)
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome (Orphanet code 476119)
Associated genes:
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to TFRC deficiency (Orphanet code 476113)
Associated genes:
Name: transferrin receptor
Symbol: TFRC
Synonyms: lang: en
text: CD71
lang: en
text: TFR1
lang: en
text: p90
GeneType: Name: gene with protein product
Rare disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (Orphanet code 476126)
Associated genes:
Name: trio Rho guanine nucleotide exchange factor
Symbol: TRIO
Synonyms: lang: en
text: ARHGEF23
GeneType: Name: gene with protein product
Rare disease: Congenital generalized hypercontractile muscle stiffness syndrome (Orphanet code 476406)
Associated genes:
Name: tropomyosin 3
Symbol: TPM3
Synonyms: lang: en
text: TRK
GeneType: Name: gene with protein product
Rare disease: PMP2-related Charcot-Marie-Tooth disease type 1 (Orphanet code 476394)
Associated genes:
Name: peripheral myelin protein 2
Symbol: PMP2
Synonyms: lang: en
text: FABP8
lang: en
text: M-FABP
lang: en
text: MP2
GeneType: Name: gene with protein product
Rare disease: Vibratory urticaria (Orphanet code 493342)
Associated genes:
Name: adhesion G protein-coupled receptor E2
Symbol: ADGRE2
Synonyms: lang: en
text: CD312
GeneType: Name: gene with protein product
Rare disease: TELO2-related intellectual disability-neurodevelopmental disorder (Orphanet code 488642)
Associated genes:
Name: telomere maintenance 2
Symbol: TELO2
Synonyms: lang: en
text: KIAA0683
lang: en
text: TEL2
lang: en
text: hCLK2
GeneType: Name: gene with protein product
Rare disease: DDX41-related hematologic malignancy predisposition syndrome (Orphanet code 488647)
Associated genes:
Name: DEAD-box helicase 41
Symbol: DDX41
Synonyms: lang: en
text: ABS
lang: en
text: Abstrakt
lang: en
text: MGC8828
GeneType: Name: gene with protein product
Rare disease: Distal myopathy, Tateyama type (Orphanet code 488650)
Associated genes:
Name: caveolin 3
Symbol: CAV3
Synonyms: lang: en
text: LGMD1C
lang: en
text: LQT9
lang: en
text: M-caveolin
lang: en
text: VIP-21
lang: en
text: VIP21
GeneType: Name: gene with protein product
Rare disease: Transketolase deficiency (Orphanet code 488618)
Associated genes:
Name: transketolase
Symbol: TKT
Synonyms: lang: en
text: Wernicke-Korsakoff syndrome
GeneType: Name: gene with protein product
Rare disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (Orphanet code 488627)
Associated genes:
Name: pseudouridine synthase 3
Symbol: PUS3
Synonyms: lang: en
text: DEG1
lang: en
text: FKSG32
lang: en
text: tRNA pseudouridine(38/39) synthase
lang: en
text: tRNA-uridine isomerase 3
GeneType: Name: gene with protein product
Rare disease: TBCK-related intellectual disability syndrome (Orphanet code 488632)
Associated genes:
Name: TBC1 domain containing kinase
Symbol: TBCK
Synonyms: lang: en
text: FERRY1
lang: en
text: Fy-1
lang: en
text: HSPC302
lang: en
text: MGC16169
GeneType: Name: gene with protein product
Rare disease: Early-onset epilepsy-intellectual disability-brain anomalies syndrome (Orphanet code 488635)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Symbol: PIGG
Synonyms: lang: en
text: FLJ20265
lang: en
text: GPI ethanolamine phosphate transferase 2
lang: en
text: GPI7
lang: en
text: LAS21
lang: en
text: LAS21 (GPI7) homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Rare disease: Osteofibrous dysplasia (Orphanet code 488265)
Associated genes:
Name: MET proto-oncogene, receptor tyrosine kinase
Symbol: MET
Synonyms: lang: en
text: DFNB97
lang: en
text: HGFR
lang: en
text: RCCP2
lang: en
text: hepatocyte growth factor receptor
GeneType: Name: gene with protein product
Rare disease: Split-foot malformation-mesoaxial polydactyly syndrome (Orphanet code 488232)
Associated genes:
Name: mitogen-activated protein kinase kinase kinase 20
Symbol: MAP3K20
Synonyms: lang: en
text: MLK7
lang: en
text: MLTK
lang: en
text: MLTKalpha
lang: en
text: MLTKbeta
lang: en
text: MRK
lang: en
text: ZAK
lang: en
text: ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)
lang: en
text: mixed lineage kinase 7
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W (Orphanet code 488333)
Associated genes:
Name: histidyl-tRNA synthetase 1
Symbol: HARS1
Synonyms: lang: en
text: HisRS
lang: en
text: Histidine tRNA ligase 1, cytoplasmic
lang: en
text: Jo-1 antigen
lang: en
text: histidine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: SIX2-related frontonasal dysplasia (Orphanet code 488437)
Associated genes:
Name: SIX homeobox 2
Symbol: SIX2
GeneType: Name: gene with protein product
Rare disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (Orphanet code 488613)
Associated genes:
Name: G protein subunit beta 1
Symbol: GNB1
Synonyms: lang: en
text: guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
lang: en
text: transducin beta chain 1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 76 (Orphanet code 488594)
Associated genes:
Name: calpain 1
Symbol: CAPN1
Synonyms: lang: en
text: CANP
lang: en
text: CANPL1
lang: en
text: muCANP
lang: en
text: muCL
GeneType: Name: gene with protein product
Rare disease: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (Orphanet code 488197)
Associated genes:
Name: microRNA 204
Symbol: MIR204
Synonyms: lang: en
text: hsa-mir-204
GeneType: Name: Non-coding RNA
Rare disease: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome (Orphanet code 488168)
Associated genes:
Name: methylsterol monooxygenase 1
Symbol: MSMO1
Synonyms: lang: en
text: DESP4
lang: en
text: ERG25
GeneType: Name: gene with protein product
Rare disease: Female infertility due to oocyte meiotic arrest (Orphanet code 488191)
Associated genes:
Name: WEE2 oocyte meiosis inhibiting kinase
Symbol: WEE2
Synonyms: lang: en
text: FLJ16107
lang: en
text: WEE1B
GeneType: Name: gene with protein product
Name: pannexin 1
Symbol: PANX1
Synonyms: lang: en
text: MRS1
lang: en
text: PX1
lang: en
text: UNQ2529
lang: en
text: innexin
GeneType: Name: gene with protein product
Name: PAT1 homolog 2
Symbol: PATL2
Synonyms: lang: en
text: Pat1a
GeneType: Name: gene with protein product
Name: tubulin beta 8 class VIII
Symbol: TUBB8
Synonyms: lang: en
text: bA631M21.2
lang: en
text: class VIII beta-tubulin
GeneType: Name: gene with protein product
Rare disease: Takenouchi-Kosaki syndrome (Orphanet code 487796)
Associated genes:
Name: cell division cycle 42
Symbol: CDC42
Synonyms: lang: en
text: CDC42Hs
lang: en
text: G25K
lang: en
text: GTP binding protein, 25kDa
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation (Orphanet code 487814)
Associated genes:
Name: diacylglycerol O-acyltransferase 2
Symbol: DGAT2
GeneType: Name: gene with protein product
Rare disease: Pierpont syndrome (Orphanet code 487825)
Associated genes:
Name: TBL1X/Y related 1
Symbol: TBL1XR1
Synonyms: lang: en
text: C21
lang: en
text: DC42
lang: en
text: F-box-like/WD repeat-containing protein TBL1XR1
lang: en
text: FLJ12894
lang: en
text: IRA1
lang: en
text: TBL1-related protein
lang: en
text: TBLR1
GeneType: Name: gene with protein product
Rare disease: Tangier disease (Orphanet code 31150)
Associated genes:
Name: ATP binding cassette subfamily A member 1
Symbol: ABCA1
Synonyms: lang: en
text: TGD
lang: en
text: Tangier disease
GeneType: Name: gene with protein product
Rare disease: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (Orphanet code 31043)
Associated genes:
Name: claudin 16
Symbol: CLDN16
Synonyms: lang: en
text: HOMG3
lang: en
text: PCLN1
lang: en
text: hypomagnesemia 3, with hypercalciuria and nephrocalcinosis
lang: en
text: paracellin-1
GeneType: Name: gene with protein product
Rare disease: Dermatofibrosarcoma protuberans (Orphanet code 31112)
Associated genes:
Name: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Name: platelet derived growth factor subunit B
Symbol: PDGFB
Synonyms: lang: en
text: SSV
lang: en
text: becaplermin
lang: en
text: oncogene SIS
GeneType: Name: gene with protein product
Rare disease: Primary hypomagnesemia with secondary hypocalcemia (Orphanet code 30924)
Associated genes:
Name: transient receptor potential cation channel subfamily M member 6
Symbol: TRPM6
Synonyms: lang: en
text: CHAK2
lang: en
text: FLJ22628
GeneType: Name: gene with protein product
Rare disease: Hereditary arginine vasopressin deficiency (Orphanet code 30925)
Associated genes:
Name: arginine vasopressin
Symbol: AVP
Synonyms: lang: en
text: ADH
lang: en
text: antidiuretic hormone
lang: en
text: copeptin
lang: en
text: diabetes insipidus
lang: en
text: neurohypophyseal
lang: en
text: neurophysin II
lang: en
text: prepro-AVP-NP II
lang: en
text: prepro-arginine-vasopressin-neurophysin II
GeneType: Name: gene with protein product
Rare disease: BVES-related limb-girdle muscular dystrophy (Orphanet code 476084)
Associated genes:
Name: blood vessel epicardial substance
Symbol: BVES
Synonyms: lang: en
text: HBVES
lang: en
text: POP1
lang: en
text: POPDC1
lang: en
text: popeye domain containing 1
GeneType: Name: gene with protein product
Rare disease: Erythrokeratodermia-cardiomyopathy syndrome (Orphanet code 476096)
Associated genes:
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome (Orphanet code 476093)
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: Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet code 71278)
Associated genes:
Name: glutamate-ammonia ligase
Symbol: GLUL
Synonyms: lang: en
text: glutamine synthetase
GeneType: Name: gene with protein product
Rare disease: Split hand-split foot-deafness syndrome (Orphanet code 71271)
Associated genes:
Name: distal-less homeobox 5
Symbol: DLX5
GeneType: Name: gene with protein product