TaoMedAI/RareMedData huggingface dataset:
Rare disease: Pyridoxal phosphate-responsive seizures (Orphanet code 79096)
Associated genes:
Name: pyridoxamine 5'-phosphate oxidase
Symbol: PNPO
Synonyms: lang: en
text: PDXPO
lang: en
text: pyridoxal 5'-phosphate synthase
GeneType: Name: gene with protein product
Rare disease: DEND syndrome (Orphanet code 79134)
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: asparaginyl-tRNA synthetase 2, mitochondrial
Symbol: NARS2
Synonyms: lang: en
text: FLJ23441
lang: en
text: SLM5
lang: en
text: asparagine tRNA ligase 2, mitochondrial (putative)
GeneType: Name: gene with protein product
Rare disease: Generalized epilepsy-paroxysmal dyskinesia syndrome (Orphanet code 79137)
Associated genes:
Name: potassium calcium-activated channel subfamily M alpha 1
Symbol: KCNMA1
Synonyms: lang: en
text: BK channel alpha subunit
lang: en
text: KCa1.1
lang: en
text: big potassium channel alpha subunit
lang: en
text: mSLO1
lang: en
text: maxiK channel
GeneType: Name: gene with protein product
Rare disease: Hepatic veno-occlusive disease-immunodeficiency syndrome (Orphanet code 79124)
Associated genes:
Name: SP110 nuclear body protein
Symbol: SP110
GeneType: Name: gene with protein product
Rare disease: Chronic mast cell leukemia (Orphanet code 566396)
Associated genes:
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Rare disease: Chronic visceral acid sphingomyelinase deficiency (Orphanet code 77293)
Associated genes:
Name: sphingomyelin phosphodiesterase 1
Symbol: SMPD1
Synonyms: lang: en
text: ASM
lang: en
text: Niemann-Pick type A/B
lang: en
text: acid sphingomyelinase
GeneType: Name: gene with protein product
Rare disease: Odontoleukodystrophy (Orphanet code 77295)
Associated genes:
Name: RNA polymerase III subunit A
Symbol: POLR3A
Synonyms: lang: en
text: C160
lang: en
text: RPC1
lang: en
text: RPC155
lang: en
text: hRPC155
GeneType: Name: gene with protein product
Rare disease: Gaucher disease type 3 (Orphanet code 77261)
Associated genes:
Name: glucosylceramidase beta 1
Symbol: GBA1
Synonyms: lang: en
text: GBA1
lang: en
text: glucocerebrosidase
GeneType: Name: gene with protein product
Rare disease: Infantile neurovisceral acid sphingomyelinase deficiency (Orphanet code 77292)
Associated genes:
Name: sphingomyelin phosphodiesterase 1
Symbol: SMPD1
Synonyms: lang: en
text: ASM
lang: en
text: Niemann-Pick type A/B
lang: en
text: acid sphingomyelinase
GeneType: Name: gene with protein product
Rare disease: Anophthalmia/microphthalmia-esophageal atresia syndrome (Orphanet code 77298)
Associated genes:
Name: SRY-box transcription factor 2
Symbol: SOX2
GeneType: Name: gene with protein product
Rare disease: Majeed syndrome (Orphanet code 77297)
Associated genes:
Name: lipin 2
Symbol: LPIN2
Synonyms: lang: en
text: KIAA0249
lang: en
text: Phosphatidate phosphatase LPIN2
GeneType: Name: gene with protein product
Rare disease: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome (Orphanet code 567502)
Associated genes:
Name: DNA topoisomerase II beta
Symbol: TOP2B
Synonyms: lang: en
text: TOPIIB
lang: en
text: top2beta
GeneType: Name: gene with protein product
Rare disease: Monosomy 9q22.3 (Orphanet code 77301)
Associated genes:
Name: patched 1
Symbol: PTCH1
Synonyms: lang: en
text: BCNS
GeneType: Name: gene with protein product
Rare disease: PPARG-related familial partial lipodystrophy (Orphanet code 79083)
Associated genes:
Name: peroxisome proliferator activated receptor gamma
Symbol: PPARG
Synonyms: lang: en
text: NR1C3
lang: en
text: PPARG1
lang: en
text: PPARG2
lang: en
text: PPARgamma
GeneType: Name: gene with protein product
Rare disease: Juvenile polyposis of infancy (Orphanet code 79076)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: bone morphogenetic protein receptor type 1A
Symbol: BMPR1A
Synonyms: lang: en
text: ALK3
lang: en
text: CD292
GeneType: Name: gene with protein product
Rare disease: Acquired partial lipodystrophy (Orphanet code 79087)
Associated genes:
Name: lamin B2
Symbol: LMNB2
GeneType: Name: gene with protein product
Rare disease: AKT2-related familial partial lipodystrophy (Orphanet code 79085)
Associated genes:
Name: AKT serine/threonine kinase 2
Symbol: AKT2
Synonyms: lang: en
text: PKBß
GeneType: Name: gene with protein product
Rare disease: Familial partial lipodystrophy, Köbberling type (Orphanet code 79084)
Associated genes:
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (Orphanet code 79091)
Associated genes:
Name: myosin heavy chain 2
Symbol: MYH2
Synonyms: lang: en
text: MYH2A
lang: en
text: MYHSA2
lang: en
text: MYHas8
lang: en
text: MyHC-2A
lang: en
text: MyHC-IIa
GeneType: Name: gene with protein product
Rare disease: North Carolina macular dystrophy (Orphanet code 75327)
Associated genes:
Name: DNase1 hypersensitivity, chromosome 6, site 1
Symbol: DHS6S1
GeneType: Name: Disorder-associated locus
Rare disease: Progressive bifocal chorioretinal atrophy (Orphanet code 75373)
Associated genes:
Name: DNase1 hypersensitivity, chromosome 6, site 1
Symbol: DHS6S1
GeneType: Name: Disorder-associated locus
Rare disease: Bradyopsia (Orphanet code 75374)
Associated genes:
Name: regulator of G protein signaling 9 binding protein
Symbol: RGS9BP
Synonyms: lang: en
text: FLJ45744
lang: en
text: PERRS
lang: en
text: R9AP
lang: en
text: RGS9
GeneType: Name: gene with protein product
Name: regulator of G protein signaling 9
Symbol: RGS9
Synonyms: lang: en
text: MGC111763
lang: en
text: MGC26458
lang: en
text: PERRS
lang: en
text: RGS9L
lang: en
text: regulator of G protein signalling 9
lang: en
text: regulator of G protein signalling 9L
lang: en
text: regulator of G-protein signaling 9L
GeneType: Name: gene with protein product
Rare disease: Familial drusen (Orphanet code 75376)
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
Name: complement factor H
Symbol: CFH
Synonyms: lang: en
text: ARMD4
lang: en
text: ARMS1
lang: en
text: FHL1
lang: en
text: H factor 2 (complement)
lang: en
text: HUS
lang: en
text: age-related maculopathy susceptibility 1
lang: en
text: beta-1H
GeneType: Name: gene with protein product
Name: EGF containing fibulin extracellular matrix protein 1
Symbol: EFEMP1
Synonyms: lang: en
text: FBLN3
lang: en
text: MTLV
lang: en
text: S1-5
lang: en
text: fibulin 3
GeneType: Name: gene with protein product
Rare disease: Central areolar choroidal dystrophy (Orphanet code 75377)
Associated genes:
Name: guanylate cyclase activator 1A
Symbol: GUCA1A
Synonyms: lang: en
text: COD3
lang: en
text: CORD14
lang: en
text: GCAP
lang: en
text: GCAP-1
lang: en
text: GCAP-I
lang: en
text: GCAP1
lang: en
text: cone dystrophy 3
lang: en
text: dJ139D8.6
GeneType: Name: gene with protein product
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: guanylate cyclase 2D, retinal
Symbol: GUCY2D
Synonyms: lang: en
text: CYGD
lang: en
text: LCA1
lang: en
text: Leber congenital amaurosis 1
lang: en
text: RETGC-1
lang: en
text: ROS-GC
lang: en
text: ROS-GC1
lang: en
text: retGC
lang: en
text: retinal guanylate cyclase 1
lang: en
text: rod outer segment membrane guanylate cyclase
GeneType: Name: gene with protein product
Rare disease: Oguchi disease (Orphanet code 75382)
Associated genes:
Name: S-antigen visual arrestin
Symbol: SAG
Synonyms: lang: en
text: ARRESTIN
lang: en
text: RP47
lang: en
text: arrestin 1
lang: en
text: rod arrestin
GeneType: Name: gene with protein product
Name: G protein-coupled receptor kinase 1
Symbol: GRK1
Synonyms: lang: en
text: GPRK1
lang: en
text: RK
GeneType: Name: gene with protein product
Rare disease: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (Orphanet code 75391)
Associated genes:
Name: minichromosome maintenance complex component 4
Symbol: MCM4
Synonyms: lang: en
text: CDC54
lang: en
text: DNA replication licensing factor MCM4
lang: en
text: MGC33310
lang: en
text: P1-Cdc21
lang: en
text: hCdc21
GeneType: Name: gene with protein product
Rare disease: Periodontal Ehlers-Danlos syndrome (Orphanet code 75392)
Associated genes:
Name: complement C1s
Symbol: C1S
GeneType: Name: gene with protein product
Name: complement C1r
Symbol: C1R
GeneType: Name: gene with protein product
Rare disease: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (Orphanet code 75496)
Associated genes:
Name: beta-1,4-galactosyltransferase 7
Symbol: B4GALT7
Synonyms: lang: en
text: XGALT-1
lang: en
text: beta4Gal-T7
lang: en
text: galactosyltransferase I
GeneType: Name: gene with protein product
Rare disease: X-linked Ehlers-Danlos syndrome (Orphanet code 75497)
Associated genes:
Name: filamin A
Symbol: FLNA
Synonyms: lang: en
text: ABP-280
lang: en
text: actin binding protein 280
lang: en
text: alpha filamin
GeneType: Name: gene with protein product
Rare disease: X-linked sideroblastic anemia (Orphanet code 75563)
Associated genes:
Name: 5'-aminolevulinate synthase 2
Symbol: ALAS2
Synonyms: lang: en
text: ALAS-E
lang: en
text: erythroid-specific delta-aminolevulinate synthase
lang: en
text: sideroblastic/hypochromic anemia
GeneType: Name: gene with protein product
Rare disease: Acquired idiopathic sideroblastic anemia (Orphanet code 75564)
Associated genes:
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Name: splicing factor 3b subunit 1
Symbol: SF3B1
Synonyms: lang: en
text: Hsh155
lang: en
text: PRPF10
lang: en
text: Prp10
lang: en
text: SAP155
lang: en
text: SF3b155
GeneType: Name: gene with protein product
Rare disease: 6q terminal deletion syndrome (Orphanet code 75857)
Associated genes:
Name: ER membrane associated RNA degradation
Symbol: ERMARD
Synonyms: lang: en
text: FLJ11152
lang: en
text: dJ266L20.3
GeneType: Name: gene with protein product
Rare disease: Ullrich congenital muscular dystrophy (Orphanet code 75840)
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
Name: collagen type XII alpha 1 chain
Symbol: COL12A1
Synonyms: lang: en
text: collagen type XII proteoglycan
GeneType: Name: gene with protein product
Rare disease: MORM syndrome (Orphanet code 75858)
Associated genes:
Name: inositol polyphosphate-5-phosphatase E
Symbol: INPP5E
Synonyms: lang: en
text: CORS1
lang: en
text: PPI5PIV
lang: en
text: Phosphatidylinositol polyphosphate 5-phosphatase type IV
lang: en
text: pharbin
GeneType: Name: gene with protein product
Rare disease: Trichorhinophalangeal syndrome type 1 (Orphanet code 77258)
Associated genes:
Name: transcriptional repressor GATA binding 1
Symbol: TRPS1
Synonyms: lang: en
text: GC79
lang: en
text: LGCR
GeneType: Name: gene with protein product
Rare disease: Gaucher disease type 2 (Orphanet code 77260)
Associated genes:
Name: glucosylceramidase beta 1
Symbol: GBA1
Synonyms: lang: en
text: GBA1
lang: en
text: glucocerebrosidase
GeneType: Name: gene with protein product
Rare disease: Gaucher disease type 1 (Orphanet code 77259)
Associated genes:
Name: glucosylceramidase beta 1
Symbol: GBA1
Synonyms: lang: en
text: GBA1
lang: en
text: glucocerebrosidase
GeneType: Name: gene with protein product
Name: scavenger receptor class B member 2
Symbol: SCARB2
Synonyms: lang: en
text: HLGP85
lang: en
text: LIMP-2
lang: en
text: LIMPII
lang: en
text: SR-BII
lang: en
text: lysosomal integral membrane protein II
lang: en
text: lysosome membrane protein 2
GeneType: Name: gene with protein product
Rare disease: Congenital primary lymphedema of Gordon (Orphanet code 569821)
Associated genes:
Name: vascular endothelial growth factor C
Symbol: VEGFC
Synonyms: lang: en
text: VEGF-C
lang: en
text: VRP
lang: en
text: vascular endothelial growth factor-related protein
GeneType: Name: gene with protein product
Rare disease: CELSR1-related late-onset primary lymphedema (Orphanet code 569816)
Associated genes:
Name: cadherin EGF LAG seven-pass G-type receptor 1
Symbol: CELSR1
Synonyms: lang: en
text: ADGRC1
lang: en
text: CDHF9
lang: en
text: FMI2
lang: en
text: HFMI2
lang: en
text: ME2
lang: en
text: adhesion G protein-coupled receptor C1
lang: en
text: flamingo homolog 2 (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet code 73272)
Associated genes:
Name: insulin like growth factor 1
Symbol: IGF1
Synonyms: lang: en
text: IGF
lang: en
text: IGF-I
lang: en
text: IGF1A
lang: en
text: IGFI
lang: en
text: somatomedin C
GeneType: Name: gene with protein product
Rare disease: Growth delay due to insulin-like growth factor I resistance (Orphanet code 73273)
Associated genes:
Name: insulin like growth factor 1 receptor
Symbol: IGF1R
Synonyms: lang: en
text: CD221
lang: en
text: IGFIR
lang: en
text: IGFR
lang: en
text: JTK13
lang: en
text: MGC18216
GeneType: Name: gene with protein product
Rare disease: Familial isolated retinal arteriolar tortuosity (Orphanet code 75326)
Associated genes:
Name: collagen type IV alpha 1 chain
Symbol: COL4A1
GeneType: Name: gene with protein product
Rare disease: Familial isolated restrictive cardiomyopathy (Orphanet code 75249)
Associated genes:
Name: filamin C
Symbol: FLNC
Synonyms: lang: en
text: ABP-280
lang: en
text: ABPL
lang: en
text: actin binding protein 280
lang: en
text: gamma filamin
GeneType: Name: gene with protein product
Name: kinesin family member 20A
Symbol: KIF20A
Synonyms: lang: en
text: MKLP2
lang: en
text: mitotic kinesin-like protein 2
GeneType: Name: gene with protein product
Name: troponin I3, cardiac type
Symbol: TNNI3
Synonyms: lang: en
text: CMH7
lang: en
text: TNNC1
lang: en
text: cTNI
GeneType: Name: gene with protein product
Name: troponin T2, cardiac type
Symbol: TNNT2
Synonyms: lang: en
text: CMPD2
GeneType: Name: gene with protein product
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
Rare disease: Cholesteryl ester storage disease (Orphanet code 75234)
Associated genes:
Name: lipase A, lysosomal acid type
Symbol: LIPA
Synonyms: lang: en
text: CESD
lang: en
text: LAL
lang: en
text: Wolman disease
lang: en
text: lysosomal acid lipase
lang: en
text: sterol esterase
GeneType: Name: gene with protein product
Rare disease: Wolman disease (Orphanet code 75233)
Associated genes:
Name: lipase A, lysosomal acid type
Symbol: LIPA
Synonyms: lang: en
text: CESD
lang: en
text: LAL
lang: en
text: Wolman disease
lang: en
text: lysosomal acid lipase
lang: en
text: sterol esterase
GeneType: Name: gene with protein product
Rare disease: EPHB4-related lymphatic-related hydrops fetalis (Orphanet code 568065)
Associated genes:
Name: EPH receptor B4
Symbol: EPHB4
Synonyms: lang: en
text: Tyro11
GeneType: Name: gene with protein product
Rare disease: Familial platelet disorder with associated myeloid malignancy (Orphanet code 71290)
Associated genes:
Name: ETS variant transcription factor 6
Symbol: ETV6
Synonyms: lang: en
text: TEL
lang: en
text: TEL oncogene
GeneType: Name: gene with protein product
Name: ankyrin repeat domain containing 26
Symbol: ANKRD26
Synonyms: lang: en
text: KIAA1074
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: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (Orphanet code 568062)
Associated genes:
Name: piezo type mechanosensitive ion channel component 1 (Er blood group)
Symbol: PIEZO1
Synonyms: lang: en
text: KIAA0233
GeneType: Name: gene with protein product
Rare disease: Familial thrombocytosis (Orphanet code 71493)
Associated genes:
Name: thrombopoietin
Symbol: THPO
Synonyms: lang: en
text: MPL ligand
lang: en
text: MPLLG
lang: en
text: TPO
lang: en
text: c-mpl ligand
lang: en
text: megakaryocyte colony-stimulating factor
lang: en
text: megakaryocyte growth and development factor
lang: en
text: megakaryocyte stimulating factor
lang: en
text: myeloproliferative leukemia virus oncogene ligand
lang: en
text: prepro-thrombopoietin
lang: en
text: thrombopoietin nirs
GeneType: Name: gene with protein product
Name: Janus kinase 2
Symbol: JAK2
Synonyms: lang: en
text: JTK10
GeneType: Name: gene with protein product
Name: MPL proto-oncogene, thrombopoietin receptor
Symbol: MPL
Synonyms: lang: en
text: CD110
lang: en
text: THPOR
lang: en
text: TPOR
GeneType: Name: gene with protein product
Rare disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome (Orphanet code 71289)
Associated genes:
Name: MDS1 and EVI1 complex locus
Symbol: MECOM
Synonyms: lang: en
text: KMT8E
lang: en
text: MDS1-EVI1
lang: en
text: PR domain 3
lang: en
text: PRDM3
GeneType: Name: gene with protein product
Name: homeobox A11
Symbol: HOXA11
GeneType: Name: gene with protein product
Rare disease: Obesity due to pro-opiomelanocortin deficiency (Orphanet code 71526)
Associated genes:
Name: proopiomelanocortin
Symbol: POMC
Synonyms: lang: en
text: ACTH
lang: en
text: CLIP
lang: en
text: LPH
lang: en
text: MSH
lang: en
text: NPP
lang: en
text: POC
lang: en
text: adrenocorticotropic hormone
lang: en
text: adrenocorticotropin
lang: en
text: alpha-melanocyte stimulating hormone
lang: en
text: beta-endorphin
lang: en
text: beta-lipotropin
lang: en
text: beta-melanocyte stimulating hormone
lang: en
text: opiomelanocortin prepropeptide
GeneType: Name: gene with protein product
Rare disease: Obesity due to prohormone convertase I deficiency (Orphanet code 71528)
Associated genes:
Name: proprotein convertase subtilisin/kexin type 1
Symbol: PCSK1
Synonyms: lang: en
text: PC1
lang: en
text: PC1/3
lang: en
text: PC3
lang: en
text: SPC3
lang: en
text: neuroendocrine convertase 1
lang: en
text: prohormone convertase 1
lang: en
text: prohormone convertase 3
lang: en
text: proprotein convertase 1
lang: en
text: proprotein convertase 1/3
GeneType: Name: gene with protein product
Rare disease: Obesity due to melanocortin 4 receptor deficiency (Orphanet code 71529)
Associated genes:
Name: melanocortin 4 receptor
Symbol: MC4R
GeneType: Name: gene with protein product
Rare disease: Rapid-onset dystonia-parkinsonism (Orphanet code 71517)
Associated genes:
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
Rare disease: Benign paroxysmal torticollis of infancy (Orphanet code 71518)
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
Rare disease: Multiple mitochondrial dysfunctions syndrome type 5 (Orphanet code 569274)
Associated genes:
Name: iron-sulfur cluster assembly 1
Symbol: ISCA1
Synonyms: lang: en
text: ISA1
lang: en
text: MGC4276
lang: en
text: hIscA
lang: en
text: hIscA1
GeneType: Name: gene with protein product
Rare disease: Multiple mitochondrial dysfunctions syndrome type 6 (Orphanet code 569290)
Associated genes:
Name: peptidase, mitochondrial processing subunit beta
Symbol: PMPCB
Synonyms: lang: en
text: MAS1
lang: en
text: MPPB
lang: en
text: MPPP52
lang: en
text: beta-MPP
GeneType: Name: gene with protein product
Rare disease: Microcystic stromal tumor (Orphanet code 569248)
Associated genes:
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Rare disease: HANAC syndrome (Orphanet code 73229)
Associated genes:
Name: collagen type IV alpha 1 chain
Symbol: COL4A1
GeneType: Name: gene with protein product
Rare disease: Familial apolipoprotein A5 deficiency (Orphanet code 530849)
Associated genes:
Name: apolipoprotein A5
Symbol: APOA5
Synonyms: lang: en
text: APOA-V
lang: en
text: RAP3
GeneType: Name: gene with protein product
Rare disease: Omenn syndrome (Orphanet code 39041)
Associated genes:
Name: adenosine deaminase
Symbol: ADA
Synonyms: lang: en
text: ADA1
GeneType: Name: gene with protein product
Name: recombination activating 1
Symbol: RAG1
Synonyms: lang: en
text: MGC43321
lang: en
text: RING finger protein 74
lang: en
text: RNF74
lang: en
text: V(D)J recombination-activating protein 1
lang: en
text: recombination activating protein 1
GeneType: Name: gene with protein product
Name: recombination activating 2
Symbol: RAG2
GeneType: Name: gene with protein product
Name: chromodomain helicase DNA binding protein 7
Symbol: CHD7
Synonyms: lang: en
text: FLJ20357
lang: en
text: FLJ20361
lang: en
text: KIAA1416
GeneType: Name: gene with protein product
Name: DNA cross-link repair 1C
Symbol: DCLRE1C
Synonyms: lang: en
text: A-SCID
lang: en
text: ARTEMIS
lang: en
text: FLJ11360
lang: en
text: PSO2 homolog (S. cerevisiae)
lang: en
text: SNM1C
GeneType: Name: gene with protein product
Name: interleukin 2 receptor subunit gamma
Symbol: IL2RG
Synonyms: lang: en
text: CD132
GeneType: Name: gene with protein product
Name: DNA ligase 4
Symbol: LIG4
Synonyms: lang: en
text: DNA joinase
lang: en
text: DNA ligase IV
lang: en
text: DNA repair enzyme
lang: en
text: polydeoxyribonucleotide synthase [ATP] 4
lang: en
text: polynucleotide ligase
lang: en
text: sealase
GeneType: Name: gene with protein product
Name: RNA component of mitochondrial RNA processing endoribonuclease
Symbol: RMRP
Synonyms: lang: en
text: NME1
lang: en
text: RMRPR
lang: en
text: RNase MRP RNA
lang: en
text: RRP2
GeneType: Name: Non-coding RNA
Name: interleukin 7 receptor
Symbol: IL7R
Synonyms: lang: en
text: CD127
lang: en
text: CDw127
lang: en
text: IL-7Ralpha
lang: en
text: IL7RA
lang: en
text: IL7Ralpha
lang: en
text: Interleukin-7 receptor subunit alpha
lang: en
text: lnc-IL7R
lang: en
text: sIL-7R
lang: en
text: soluble interleukin-7 receptor
GeneType: Name: gene with protein product
Rare disease: KRT1-related diffuse nonepidermolytic keratoderma (Orphanet code 530838)
Associated genes:
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product