TaoMedAI/RareMedData huggingface dataset:
Rare disease: Adrenocortical carcinoma (Orphanet code 1501)
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
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
Name: zinc and ring finger 3
Symbol: ZNRF3
Synonyms: lang: en
text: BK747E2.3
lang: en
text: FLJ22057
lang: en
text: KIAA1133
lang: en
text: RNF203
GeneType: Name: gene with protein product
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
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
Name: telomerase reverse transcriptase
Symbol: TERT
Synonyms: lang: en
text: EST2
lang: en
text: TCS1
lang: en
text: TP2
lang: en
text: TRT
lang: en
text: hEST2
GeneType: Name: gene with protein product
Name: protein kinase cAMP-dependent type I regulatory subunit alpha
Symbol: PRKAR1A
Synonyms: lang: en
text: CNC1
lang: en
text: Carney complex type 1
GeneType: Name: gene with protein product
Rare disease: Genetic transient congenital hypothyroidism (Orphanet code 226316)
Associated genes:
Name: dual oxidase 2
Symbol: DUOX2
Synonyms: lang: en
text: LNOX2
lang: en
text: NADH/NADPH thyroid oxidase p138-tox
lang: en
text: NADPH oxidase/peroxidase DUOX2
lang: en
text: NADPH thyroid oxidase 2
lang: en
text: P138(TOX)
lang: en
text: P138-TOX
lang: en
text: THOX2
lang: en
text: dual oxidase-like domains 2
lang: en
text: flavoprotein NADPH oxidase
lang: en
text: nicotinamide adenine dinucleotide phosphate oxidase
GeneType: Name: gene with protein product
Rare disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet code 226307)
Associated genes:
Name: POU class 1 homeobox 1
Symbol: POU1F1
Synonyms: lang: en
text: GHF-1
lang: en
text: PIT-1
lang: en
text: POU1F1a
lang: en
text: growth hormone factor 1
lang: en
text: pituitary transcript factor 1
GeneType: Name: gene with protein product
Name: PROP paired-like homeobox 1
Symbol: PROP1
GeneType: Name: gene with protein product
Name: HESX homeobox 1
Symbol: HESX1
Synonyms: lang: en
text: ANF
lang: en
text: RPX
lang: en
text: Rathke's pouch homeobox
GeneType: Name: gene with protein product
Name: LIM homeobox 3
Symbol: LHX3
GeneType: Name: gene with protein product
Name: LIM homeobox 4
Symbol: LHX4
Synonyms: lang: en
text: Gsh4
GeneType: Name: gene with protein product
Rare disease: Synovial sarcoma (Orphanet code 3273)
Associated genes:
Name: SS18 subunit of BAF chromatin remodeling complex
Symbol: SS18
Synonyms: lang: en
text: SMARCL1
lang: en
text: SYT
GeneType: Name: gene with protein product
Name: SSX family member 1
Symbol: SSX1
Synonyms: lang: en
text: CT5.1
lang: en
text: cancer/testis antigen family 5, member 1
GeneType: Name: gene with protein product
Name: SSX family member 2
Symbol: SSX2
Synonyms: lang: en
text: CT5.2a
lang: en
text: HD21
lang: en
text: HOM-MEL-40
lang: en
text: MGC119055
lang: en
text: MGC15364
lang: en
text: MGC3884
lang: en
text: cancer/testis antigen family 5, member 2a
lang: en
text: sarcoma, synovial, X-chromosome-related 2
lang: en
text: synovial sarcoma, X breakpoint 2, isoform b
lang: en
text: synovial sarcoma, X breakpoint 2B
GeneType: Name: gene with protein product
Rare disease: Larsen syndrome (Orphanet code 503)
Associated genes:
Name: filamin B
Symbol: FLNB
Synonyms: lang: en
text: ABP-278
lang: en
text: FH1
lang: en
text: TABP
lang: en
text: TAP
lang: en
text: actin binding protein 278
lang: en
text: beta filamin
GeneType: Name: gene with protein product
Rare disease: Megalencephalic leukoencephalopathy with subcortical cysts (Orphanet code 2478)
Associated genes:
Name: modulator of VRAC current 1
Symbol: MLC1
Synonyms: lang: en
text: KIAA0027
lang: en
text: LVM
lang: en
text: MLC
lang: en
text: VL
GeneType: Name: gene with protein product
Name: hepatic and glial cell adhesion molecule
Symbol: HEPACAM
Synonyms: lang: en
text: FLJ25530
lang: en
text: GLIALCAM
lang: en
text: glial cell adhesion molecule
lang: en
text: hepaCAM
GeneType: Name: gene with protein product
Rare disease: Primary Fanconi renotubular syndrome (Orphanet code 3337)
Associated genes:
Name: enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Symbol: EHHADH
GeneType: Name: gene with protein product
Name: glycine amidinotransferase
Symbol: GATM
Synonyms: lang: en
text: AGAT
lang: en
text: L-arginine:glycine amidinotransferase
GeneType: Name: gene with protein product
Name: solute carrier family 34 member 1
Symbol: SLC34A1
Synonyms: lang: en
text: NAPI-3
lang: en
text: NPTIIa
lang: en
text: Na+-phosphate cotransporter type II
lang: en
text: SLC11
lang: en
text: sodium/phosphate co-transporter
lang: en
text: solute carrier family 17 (sodium phosphate), member 2
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase complex assembly factor 6
Symbol: NDUFAF6
Synonyms: lang: en
text: MGC40214
GeneType: Name: gene with protein product
Rare disease: Arginine vasopressin resistance (Orphanet code 223)
Associated genes:
Name: arginine vasopressin receptor 2
Symbol: AVPR2
Synonyms: lang: en
text: V2R
lang: en
text: nephrogenic diabetes insipidus
GeneType: Name: gene with protein product
Name: aquaporin 2
Symbol: AQP2
GeneType: Name: gene with protein product
Rare disease: GATA2 deficiency spectrum (Orphanet code 228423)
Associated genes:
Name: GATA binding protein 2
Symbol: GATA2
Synonyms: lang: en
text: NFE1B
GeneType: Name: gene with protein product
Rare disease: Chronic myeloid leukemia (Orphanet code 521)
Associated genes:
Name: BCR activator of RhoGEF and GTPase
Symbol: BCR
Synonyms: lang: en
text: ALL
lang: en
text: CML
lang: en
text: D22S662
lang: en
text: PHL
GeneType: Name: gene with protein product
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
Name: RUNX family transcription factor 1
Symbol: RUNX1
Synonyms: lang: en
text: AMLCR1
lang: en
text: PEBP2A2
lang: en
text: aml1 oncogene
GeneType: Name: gene with protein product
Rare disease: 5q35 microduplication syndrome (Orphanet code 228415)
Associated genes:
Name: nuclear receptor binding SET domain protein 1
Symbol: NSD1
Synonyms: lang: en
text: ARA267
lang: en
text: FLJ22263
lang: en
text: KMT3B
GeneType: Name: gene with protein product
Rare disease: Hereditary butyrylcholinesterase deficiency (Orphanet code 132)
Associated genes:
Name: butyrylcholinesterase
Symbol: BCHE
Synonyms: lang: en
text: E1
GeneType: Name: gene with protein product
Rare disease: Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet code 228426)
Associated genes:
Name: itchy E3 ubiquitin protein ligase
Symbol: ITCH
Synonyms: lang: en
text: AIP4
GeneType: Name: gene with protein product
Rare disease: Isolated Klippel-Feil syndrome (Orphanet code 2345)
Associated genes:
Name: growth differentiation factor 3
Symbol: GDF3
GeneType: Name: gene with protein product
Name: mesenchyme homeobox 1
Symbol: MEOX1
Synonyms: lang: en
text: MOX1
GeneType: Name: gene with protein product
Name: growth differentiation factor 6
Symbol: GDF6
Synonyms: lang: en
text: BMP13
lang: en
text: KFS
lang: en
text: KFS1
GeneType: Name: gene with protein product
Rare disease: Familial pancreatic carcinoma (Orphanet code 1333)
Associated genes:
Name: BRCA1 DNA repair associated
Symbol: BRCA1
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 1
lang: en
text: BRCC1
lang: en
text: FANCS
lang: en
text: Fanconi anemia, complementation group S
lang: en
text: PPP1R53
lang: en
text: RNF53
lang: en
text: protein phosphatase 1, regulatory subunit 53
GeneType: Name: gene with protein product
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
GeneType: Name: gene with protein product
Name: 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
Name: SMAD family member 4
Symbol: SMAD4
Synonyms: lang: en
text: DPC4
GeneType: Name: gene with protein product
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
Name: KRAS proto-oncogene, GTPase
Symbol: KRAS
Synonyms: lang: en
text: K-Ras4B
lang: en
text: KRAS1
GeneType: Name: gene with protein product
Name: partner and localizer of BRCA2
Symbol: PALB2
Synonyms: lang: en
text: FANCN
lang: en
text: FLJ21816
lang: en
text: Fanconi anemia, complementation group N
GeneType: Name: gene with protein product
Name: palladin, cytoskeletal associated protein
Symbol: PALLD
Synonyms: lang: en
text: CGI-151
lang: en
text: KIAA0992
lang: en
text: SIH002
GeneType: Name: gene with protein product
Name: RAB, member of RAS oncogene family like 3
Symbol: RABL3
Synonyms: lang: en
text: MGC23920
GeneType: Name: gene with protein product
Rare disease: Spondylo-megaepiphyseal-metaphyseal dysplasia (Orphanet code 228387)
Associated genes:
Name: NK3 homeobox 2
Symbol: NKX3-2
Synonyms: lang: en
text: NKX3.2
lang: en
text: NKX3B
GeneType: Name: gene with protein product
Rare disease: Frontonasal dysplasia-alopecia-genital anomalies syndrome (Orphanet code 228390)
Associated genes:
Name: ALX homeobox 4
Symbol: ALX4
Synonyms: lang: en
text: FPP
lang: en
text: KIAA1788
lang: en
text: PFM
GeneType: Name: gene with protein product
Rare disease: 2q23.1 microdeletion syndrome (Orphanet code 228402)
Associated genes:
Name: methyl-CpG binding domain protein 5
Symbol: MBD5
Synonyms: lang: en
text: FLJ11113
lang: en
text: KIAA1461
GeneType: Name: gene with protein product
Rare disease: CLN7 disease (Orphanet code 228366)
Associated genes:
Name: major facilitator superfamily domain containing 8
Symbol: MFSD8
Synonyms: lang: en
text: MGC33302
GeneType: Name: gene with protein product
Rare disease: CLN6 disease (Orphanet code 228363)
Associated genes:
Name: CLN6 transmembrane ER protein
Symbol: CLN6
Synonyms: lang: en
text: FLJ20561
lang: en
text: HsT18960
lang: en
text: nclf
GeneType: Name: gene with protein product
Rare disease: CLN5 disease (Orphanet code 228360)
Associated genes:
Name: CLN5 intracellular trafficking protein
Symbol: CLN5
GeneType: Name: gene with protein product
Rare disease: 5q14.3 microdeletion syndrome (Orphanet code 228384)
Associated genes:
Name: myocyte enhancer factor 2C
Symbol: MEF2C
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 2B5 (Orphanet code 228374)
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: CLN10 disease (Orphanet code 228337)
Associated genes:
Name: cathepsin D
Symbol: CTSD
Synonyms: lang: en
text: CLN10
lang: en
text: ceroid-lipofuscinosis, neuronal 10
GeneType: Name: gene with protein product
Rare disease: CLN1 disease (Orphanet code 228329)
Associated genes:
Name: palmitoyl-protein thioesterase 1
Symbol: PPT1
Synonyms: lang: en
text: CLN1
lang: en
text: INCL
lang: en
text: ceroid-lipofuscinosis, neuronal 1, infantile
GeneType: Name: gene with protein product
Rare disease: CLN8 disease (Orphanet code 228354)
Associated genes:
Name: CLN8 transmembrane ER and ERGIC protein
Symbol: CLN8
Synonyms: lang: en
text: FLJ39417
lang: en
text: TLCD6
GeneType: Name: gene with protein product
Rare disease: CLN2 disease (Orphanet code 228349)
Associated genes:
Name: tripeptidyl peptidase 1
Symbol: TPP1
Synonyms: lang: en
text: LPIC
lang: en
text: TPP I
lang: en
text: TPP-1
lang: en
text: lysosomal pepstatin-insensitive carboxypeptidase
GeneType: Name: gene with protein product
Rare disease: CLN3 disease (Orphanet code 228346)
Associated genes:
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin
Symbol: CLN3
Synonyms: lang: en
text: BTN1
lang: en
text: JNCL
lang: en
text: juvenile neuronal ceroid lipofuscinosis
GeneType: Name: gene with protein product
Rare disease: CLN4 disease (Orphanet code 228343)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member C5
Symbol: DNAJC5
Synonyms: lang: en
text: DNAJC5A
lang: en
text: FLJ00118
lang: en
text: FLJ13070
GeneType: Name: gene with protein product
Rare disease: Carnitine palmitoyl transferase II deficiency, myopathic form (Orphanet code 228302)
Associated genes:
Name: carnitine palmitoyltransferase 2
Symbol: CPT2
Synonyms: lang: en
text: CPTASE
GeneType: Name: gene with protein product
Rare disease: Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet code 228305)
Associated genes:
Name: carnitine palmitoyltransferase 2
Symbol: CPT2
Synonyms: lang: en
text: CPTASE
GeneType: Name: gene with protein product
Rare disease: Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet code 228308)
Associated genes:
Name: carnitine palmitoyltransferase 2
Symbol: CPT2
Synonyms: lang: en
text: CPTASE
GeneType: Name: gene with protein product
Rare disease: Overhydrated hereditary stomatocytosis (Orphanet code 3203)
Associated genes:
Name: Rh associated glycoprotein
Symbol: RHAG
Synonyms: lang: en
text: Ammonium transporter Rh type A
lang: en
text: CD241
lang: en
text: RH50A
lang: en
text: SLC42A1
GeneType: Name: gene with protein product
Rare disease: Dehydrated hereditary stomatocytosis (Orphanet code 3202)
Associated genes:
Name: solute carrier family 4 member 1 (Diego blood group)
Symbol: SLC4A1
Synonyms: lang: en
text: Band 3 anion transport protein
lang: en
text: CD233
lang: en
text: EMPB3
lang: en
text: FR
lang: en
text: Froese blood group
lang: en
text: RTA1A
lang: en
text: SW
lang: en
text: Swann blood group
lang: en
text: WR
lang: en
text: Wright blood group
GeneType: Name: gene with protein product
Name: piezo type mechanosensitive ion channel component 1 (Er blood group)
Symbol: PIEZO1
Synonyms: lang: en
text: KIAA0233
GeneType: Name: gene with protein product
Name: potassium calcium-activated channel subfamily N member 4
Symbol: KCNN4
Synonyms: lang: en
text: IK
lang: en
text: KCa3.1
lang: en
text: hIKCa1
lang: en
text: hKCa4
lang: en
text: hSK4
lang: en
text: intermediate conductance calcium-activated potassium channel
lang: en
text: small conductance calcium-activated potassium channel 4
GeneType: Name: gene with protein product
Rare disease: Idiopathic ventricular fibrillation, non Brugada type (Orphanet code 228140)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 5
Symbol: SCN5A
Synonyms: lang: en
text: CDCD2
lang: en
text: CMPD2
lang: en
text: HB1
lang: en
text: HB2
lang: en
text: HBBD
lang: en
text: HH1
lang: en
text: ICCD
lang: en
text: IVF
lang: en
text: LQT3
lang: en
text: Nav1.5
lang: en
text: PFHB1
lang: en
text: SSS1
lang: en
text: long QT syndrome 3
GeneType: Name: gene with protein product
Name: dipeptidyl peptidase like 6
Symbol: DPP6
Synonyms: lang: en
text: DPL1
lang: en
text: DPPX
GeneType: Name: gene with protein product
Rare disease: X-linked Alport syndrome-diffuse leiomyomatosis (Orphanet code 1018)
Associated genes:
Name: collagen type IV alpha 6 chain
Symbol: COL4A6
GeneType: Name: gene with protein product
Name: collagen type IV alpha 5 chain
Symbol: COL4A5
GeneType: Name: gene with protein product
Rare disease: Benign familial infantile epilepsy (Orphanet code 306)
Associated genes:
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
Name: sodium voltage-gated channel alpha subunit 2
Symbol: SCN2A
Synonyms: lang: en
text: HBSCI
lang: en
text: HBSCII
lang: en
text: Nav1.2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 2
Symbol: KCNQ2
Synonyms: lang: en
text: BFNC
lang: en
text: ENB1
lang: en
text: HNSPC
lang: en
text: KCNA11
lang: en
text: Kv7.2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 3
Symbol: KCNQ3
Synonyms: lang: en
text: Kv7.3
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
Rare disease: Congenital factor X deficiency (Orphanet code 328)
Associated genes:
Name: coagulation factor X
Symbol: F10
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2N (Orphanet code 228174)
Associated genes:
Name: alanyl-tRNA synthetase 1
Symbol: AARS1
Synonyms: lang: en
text: AlaRS
lang: en
text: CMT2N
lang: en
text: alanine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant striatal neurodegeneration (Orphanet code 228169)
Associated genes:
Name: phosphodiesterase 8B
Symbol: PDE8B
Synonyms: lang: en
text: High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B
GeneType: Name: gene with protein product
Rare disease: Hemoglobin C disease (Orphanet code 2132)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Hemoglobin E disease (Orphanet code 2133)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2M (Orphanet code 228179)
Associated genes:
Name: dynamin 2
Symbol: DNM2
Synonyms: lang: en
text: CMT2M
lang: en
text: CMTDI1
lang: en
text: CMTDIB
lang: en
text: DI-CMTB
lang: en
text: DYN2
lang: en
text: DYNII
lang: en
text: cytoskeletal protein
lang: en
text: dynamin II
GeneType: Name: gene with protein product
Rare disease: Hereditary elliptocytosis (Orphanet code 288)
Associated genes:
Name: spectrin alpha, erythrocytic 1
Symbol: SPTA1
Synonyms: lang: en
text: EL2
lang: en
text: elliptocytosis 2
GeneType: Name: gene with protein product
Name: spectrin beta, erythrocytic
Symbol: SPTB
Synonyms: lang: en
text: spherocytosis, clinical type I
GeneType: Name: gene with protein product
Name: erythrocyte membrane protein band 4.1
Symbol: EPB41
Synonyms: lang: en
text: 4.1R
GeneType: Name: gene with protein product
Name: glycophorin C (Gerbich blood group)
Symbol: GYPC
Synonyms: lang: en
text: CD236
lang: en
text: CD236R
lang: en
text: GPC
lang: en
text: GPD
lang: en
text: GYPD
lang: en
text: Ge
lang: en
text: Gerbich antigen
lang: en
text: glycophorin D
lang: en
text: sialoglycoprotein D
GeneType: Name: gene with protein product
Rare disease: Hermansky-Pudlak syndrome due to BLOC-1 deficiency (Orphanet code 231531)
Associated genes:
Name: dystrobrevin binding protein 1
Symbol: DTNBP1
Synonyms: lang: en
text: BLOC1S8
lang: en
text: DBND
lang: en
text: Dysbindin
lang: en
text: HPS7
lang: en
text: My031
lang: en
text: biogenesis of lysosomal organelles complex-1, subunit 8
lang: en
text: dysbindin-1
GeneType: Name: gene with protein product
Name: biogenesis of lysosomal organelles complex 1 subunit 5
Symbol: BLOC1S5
Synonyms: lang: en
text: MU
lang: en
text: dJ303A1.3
GeneType: Name: gene with protein product
Name: biogenesis of lysosomal organelles complex 1 subunit 3
Symbol: BLOC1S3
Synonyms: lang: en
text: BLOC-1 subunit 3
lang: en
text: BLOS3
lang: en
text: Biogenesis of Lysosome-related Organelles complex-1 Subunit 3
lang: en
text: HPS8
lang: en
text: Hermansky-Pudlak syndrome 8
GeneType: Name: gene with protein product
Name: biogenesis of lysosomal organelles complex 1 subunit 6
Symbol: BLOC1S6
Synonyms: lang: en
text: BLOC-1 subunit pallidin
lang: en
text: HPS9
GeneType: Name: gene with protein product
Rare disease: Hermansky-Pudlak syndrome due to BLOC-2 deficiency (Orphanet code 231512)
Associated genes:
Name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Symbol: HPS3
Synonyms: lang: en
text: BLOC2S1
lang: en
text: SUTAL
GeneType: Name: gene with protein product
Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Symbol: HPS5
Synonyms: lang: en
text: AIBP63
lang: en
text: BLOC2S2
lang: en
text: RU2
lang: en
text: Ruby-eye protein 2 homolog
lang: en
text: alpha-integrin-binding protein 63
GeneType: Name: gene with protein product
Name: HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
Symbol: HPS6
Synonyms: lang: en
text: BLOC2S3
lang: en
text: FLJ22501
GeneType: Name: gene with protein product
Rare disease: Early-onset generalized limb-onset dystonia (Orphanet code 256)
Associated genes:
Name: torsin family 1 member A
Symbol: TOR1A
Synonyms: lang: en
text: DQ2
lang: en
text: torsin A
lang: en
text: torsin-1A
lang: en
text: torsinA
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2 alpha kinase 2
Symbol: EIF2AK2
Synonyms: lang: en
text: PKR
lang: en
text: PPP1R83
lang: en
text: Protein Kinase R
lang: en
text: Protein Kinase RNA-activated
lang: en
text: protein kinase RNA-regulated
lang: en
text: protein phosphatase 1, regulatory subunit 83
GeneType: Name: gene with protein product
Name: SHQ1, H/ACA ribonucleoprotein assembly factor
Symbol: SHQ1
Synonyms: lang: en
text: FLJ10539
lang: en
text: Shq1p
GeneType: Name: gene with protein product
Rare disease: Hermansky-Pudlak syndrome due to BLOC-3 deficiency (Orphanet code 231500)
Associated genes:
Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Symbol: HPS1
Synonyms: lang: en
text: BLOC3S1
GeneType: Name: gene with protein product
Name: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Symbol: HPS4
Synonyms: lang: en
text: BLOC3S2
lang: en
text: KIAA1667
lang: en
text: LE
GeneType: Name: gene with protein product