TaoMedAI/RareMedData huggingface dataset:
Rare disease: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency (Orphanet code 90023)
Associated genes:
Name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Symbol: LAMTOR2
Synonyms: lang: en
text: ENDAP
lang: en
text: MAPBPIP
lang: en
text: MAPKSP1 adaptor protein
lang: en
text: MAPKSP1AP
lang: en
text: Ragulator2
lang: en
text: endosomal adaptor protein
lang: en
text: mitogen activated protein binding protein interacting protein
lang: en
text: p14
GeneType: Name: gene with protein product
Rare disease: Parkinson-dementia complex of Guam (Orphanet code 90020)
Associated genes:
Name: Parkinsonism associated deglycase
Symbol: PARK7
Synonyms: lang: en
text: DJ-1
lang: en
text: DJ1
lang: en
text: GATD2
GeneType: Name: gene with protein product
Name: transient receptor potential cation channel subfamily M member 7
Symbol: TRPM7
Synonyms: lang: en
text: CHAK1
lang: en
text: LTRPC7
lang: en
text: TRP-PLIK
GeneType: Name: gene with protein product
Rare disease: Non-spherocytic hemolytic anemia due to hexokinase deficiency (Orphanet code 90031)
Associated genes:
Name: hexokinase 1
Symbol: HK1
GeneType: Name: gene with protein product
Rare disease: Primary erythromelalgia (Orphanet code 90026)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 9
Symbol: SCN9A
Synonyms: lang: en
text: ETHA
lang: en
text: NE-NA
lang: en
text: NENA
lang: en
text: Nav1.7
lang: en
text: PN1
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 10
Symbol: SCN10A
Synonyms: lang: en
text: Nav1.8
lang: en
text: PN3
lang: en
text: SNS
lang: en
text: hPN3
lang: en
text: peripheral nerve sodium channel 3
lang: en
text: sensory neuron sodium channel
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 11
Symbol: SCN11A
Synonyms: lang: en
text: NaN
lang: en
text: Nav1.9
lang: en
text: SNS-2
GeneType: Name: gene with protein product
Rare disease: Hemolytic anemia due to glutathione reductase deficiency (Orphanet code 90030)
Associated genes:
Name: glutathione-disulfide reductase
Symbol: GSR
Synonyms: lang: en
text: glutathione S-reductase
GeneType: Name: gene with protein product
Rare disease: X-linked hypophosphatemia (Orphanet code 89936)
Associated genes:
Name: phosphate regulating endopeptidase X-linked
Symbol: PHEX
Synonyms: lang: en
text: HPDR1
lang: en
text: HYP1
lang: en
text: PEX
lang: en
text: PHEX peptidase
lang: en
text: Phosphate-regulating neutral endopeptidase
lang: en
text: XLH
GeneType: Name: gene with protein product
Rare disease: Lissencephaly syndrome, Norman-Roberts type (Orphanet code 89844)
Associated genes:
Name: nudE neurodevelopment protein 1
Symbol: NDE1
Synonyms: lang: en
text: FLJ20101
lang: en
text: NDE
lang: en
text: NUDE
lang: en
text: nudE
GeneType: Name: gene with protein product
Name: katanin regulatory subunit B1
Symbol: KATNB1
GeneType: Name: gene with protein product
Name: reelin
Symbol: RELN
Synonyms: lang: en
text: PRO1598
lang: en
text: RL
GeneType: Name: gene with protein product
Rare disease: Dystrophic epidermolysis bullosa pruriginosa (Orphanet code 89843)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form (Orphanet code 89842)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: X-linked cone dysfunction syndrome with myopia (Orphanet code 90001)
Associated genes:
Name: opsin 1, medium wave sensitive
Symbol: OPN1MW
Synonyms: lang: en
text: COD5
lang: en
text: OPN1MW1
lang: en
text: cone dystrophy 5 (X-linked)
GeneType: Name: gene with protein product
Name: opsin 1, long wave sensitive
Symbol: OPN1LW
Synonyms: lang: en
text: COD5
lang: en
text: cone dystrophy 5 (X-linked)
GeneType: Name: gene with protein product
Rare disease: Bartter syndrome type 4 (Orphanet code 89938)
Associated genes:
Name: barttin CLCNK type accessory subunit beta
Symbol: BSND
Synonyms: lang: en
text: BART
GeneType: Name: gene with protein product
Name: chloride voltage-gated channel Kb
Symbol: CLCNKB
Synonyms: lang: en
text: CLCKB
lang: en
text: Chloride channel protein ClC-Kb
lang: en
text: ClC-K2
lang: en
text: ClC-Kb
lang: en
text: hClC-Kb
GeneType: Name: gene with protein product
Name: chloride voltage-gated channel Ka
Symbol: CLCNKA
Synonyms: lang: en
text: CLCK1
lang: en
text: Chloride channel protein ClC-Ka
lang: en
text: ClC-K1
lang: en
text: hClC-Ka
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant hypophosphatemic rickets (Orphanet code 89937)
Associated genes:
Name: fibroblast growth factor 23
Symbol: FGF23
GeneType: Name: gene with protein product
Rare disease: Blau syndrome (Orphanet code 90340)
Associated genes:
Name: nucleotide binding oligomerization domain containing 2
Symbol: NOD2
Synonyms: lang: en
text: BLAU
lang: en
text: CD
lang: en
text: CLR16.3
lang: en
text: NLR family, CARD domain containing 2
lang: en
text: NLRC2
lang: en
text: NOD-like receptor C2
lang: en
text: PSORAS1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2
GeneType: Name: gene with protein product
Rare disease: Xeroderma pigmentosum variant (Orphanet code 90342)
Associated genes:
Name: DNA polymerase eta
Symbol: POLH
Synonyms: lang: en
text: RAD30A
lang: en
text: XP-V
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant cutis laxa (Orphanet code 90348)
Associated genes:
Name: aldehyde dehydrogenase 18 family member A1
Symbol: ALDH18A1
Synonyms: lang: en
text: P5CS
lang: en
text: delta-1-pyrroline-5-carboxylate synthase
GeneType: Name: gene with protein product
Name: fibulin 5
Symbol: FBLN5
Synonyms: lang: en
text: ARMD3
lang: en
text: DANCE
lang: en
text: EVEC
lang: en
text: UP50
lang: en
text: developmental arteries and neural crest EGF-like
lang: en
text: embryonic vascular EGF-like repeat-containing protein
GeneType: Name: gene with protein product
Name: elastin
Symbol: ELN
Synonyms: lang: en
text: SVAS
lang: en
text: WBS
lang: en
text: WS
lang: en
text: Williams-Beuren syndrome
lang: en
text: supravalvular aortic stenosis
lang: en
text: tropoelastin
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cutis laxa type 1 (Orphanet code 90349)
Associated genes:
Name: EGF containing fibulin extracellular matrix protein 2
Symbol: EFEMP2
Synonyms: lang: en
text: FBLN4
lang: en
text: UPH1
lang: en
text: fibulin 4
GeneType: Name: gene with protein product
Name: fibulin 5
Symbol: FBLN5
Synonyms: lang: en
text: ARMD3
lang: en
text: DANCE
lang: en
text: EVEC
lang: en
text: UP50
lang: en
text: developmental arteries and neural crest EGF-like
lang: en
text: embryonic vascular EGF-like repeat-containing protein
GeneType: Name: gene with protein product
Name: latent transforming growth factor beta binding protein 1
Symbol: LTBP1
Synonyms: lang: en
text: TGF-beta1-BP-1
lang: en
text: Transforming growth factor beta-1-binding protein 1
GeneType: Name: gene with protein product
Rare disease: Brittle cornea syndrome (Orphanet code 90354)
Associated genes:
Name: zinc finger protein 469
Symbol: ZNF469
Synonyms: lang: en
text: KIAA1858
lang: en
text: Zfp469
GeneType: Name: gene with protein product
Name: PR/SET domain 5
Symbol: PRDM5
Synonyms: lang: en
text: PFM2
GeneType: Name: gene with protein product
Rare disease: Klippel-Trénaunay syndrome (Orphanet code 90308)
Associated genes:
Name: angiogenic factor with G-patch and FHA domains 1
Symbol: AGGF1
Synonyms: lang: en
text: FLJ10283
lang: en
text: GPATC7
lang: en
text: GPATCH7
lang: en
text: HSU84971
lang: en
text: VG5Q
GeneType: Name: gene with protein product
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Rare disease: Parkes Weber syndrome (Orphanet code 90307)
Associated genes:
Name: RAS p21 protein activator 1
Symbol: RASA1
Synonyms: lang: en
text: CM-AVM
lang: en
text: GAP
lang: en
text: Ras GTPase-activating protein 1
lang: en
text: capillary malformation-arteriovenous malformation
lang: en
text: p120
lang: en
text: p120 RAS GTPase activating protein
lang: en
text: p120GAP
lang: en
text: p120RASGAP
GeneType: Name: gene with protein product
Rare disease: Cockayne syndrome type 2 (Orphanet code 90322)
Associated genes:
Name: ERCC excision repair 6, chromatin remodeling factor
Symbol: ERCC6
Synonyms: lang: en
text: ARMD5
lang: en
text: CSB
lang: en
text: Cockayne syndrome B protein
lang: en
text: RAD26
GeneType: Name: gene with protein product
Name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Symbol: ERCC8
Synonyms: lang: en
text: CSA
GeneType: Name: gene with protein product
Name: ERCC excision repair 1, endonuclease non-catalytic subunit
Symbol: ERCC1
Synonyms: lang: en
text: RAD10
GeneType: Name: gene with protein product
Rare disease: Cockayne syndrome type 1 (Orphanet code 90321)
Associated genes:
Name: ERCC excision repair 4, endonuclease catalytic subunit
Symbol: ERCC4
Synonyms: lang: en
text: FANCQ
lang: en
text: RAD1
lang: en
text: xeroderma pigmentosum, complementation group F
GeneType: Name: gene with protein product
Name: ERCC excision repair 6, chromatin remodeling factor
Symbol: ERCC6
Synonyms: lang: en
text: ARMD5
lang: en
text: CSB
lang: en
text: Cockayne syndrome B protein
lang: en
text: RAD26
GeneType: Name: gene with protein product
Name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Symbol: ERCC8
Synonyms: lang: en
text: CSA
GeneType: Name: gene with protein product
Rare disease: Cockayne syndrome type 3 (Orphanet code 90324)
Associated genes:
Name: ERCC excision repair 6, chromatin remodeling factor
Symbol: ERCC6
Synonyms: lang: en
text: ARMD5
lang: en
text: CSB
lang: en
text: Cockayne syndrome B protein
lang: en
text: RAD26
GeneType: Name: gene with protein product
Name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Symbol: ERCC8
Synonyms: lang: en
text: CSA
GeneType: Name: gene with protein product
Rare disease: Mandibuloacral dysplasia with type A lipodystrophy (Orphanet code 90153)
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: Mandibuloacral dysplasia with type B lipodystrophy (Orphanet code 90154)
Associated genes:
Name: zinc metallopeptidase STE24
Symbol: ZMPSTE24
Synonyms: lang: en
text: CAAX prenyl protease 1 homolog
lang: en
text: FACE-1
lang: en
text: HGPS
lang: en
text: Hutchinson-Gilford progeria syndrome
lang: en
text: PRO1
lang: en
text: STE24
lang: en
text: Ste24p
GeneType: Name: gene with protein product
Rare disease: Meige disease (Orphanet code 90186)
Associated genes:
Name: EPH receptor B4
Symbol: EPHB4
Synonyms: lang: en
text: Tyro11
GeneType: Name: gene with protein product
Rare disease: Severe early-onset axonal neuropathy due to MFN2 deficiency (Orphanet code 90118)
Associated genes:
Name: mitofusin 2
Symbol: MFN2
Synonyms: lang: en
text: CMT2A2
lang: en
text: CPRP1
lang: en
text: KIAA0214
lang: en
text: MARF
GeneType: Name: gene with protein product
Rare disease: Hereditary motor and sensory neuropathy, Okinawa type (Orphanet code 90117)
Associated genes:
Name: trafficking from ER to golgi regulator
Symbol: TFG
Synonyms: lang: en
text: FLJ36137
lang: en
text: SPG57
lang: en
text: TF6
GeneType: Name: gene with protein product
Rare disease: Hereditary motor and sensory neuropathy type 6 (Orphanet code 90120)
Associated genes:
Name: solute carrier family 25 member 46
Symbol: SLC25A46
Synonyms: lang: en
text: Mitochondrial outer membrane protein
GeneType: Name: gene with protein product
Name: mitofusin 2
Symbol: MFN2
Synonyms: lang: en
text: CMT2A2
lang: en
text: CPRP1
lang: en
text: KIAA0214
lang: en
text: MARF
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive ataxia, Beauce type (Orphanet code 88644)
Associated genes:
Name: spectrin repeat containing nuclear envelope protein 1
Symbol: SYNE1
Synonyms: lang: en
text: 8B
lang: en
text: ARCA1
lang: en
text: CPG2
lang: en
text: Enaptin
lang: en
text: KIAA0796
lang: en
text: MYNE1
lang: en
text: Nesp1
lang: en
text: Nesprin-1
lang: en
text: SCAR8
lang: en
text: SYNE-1B
lang: en
text: dJ45H2.2
lang: en
text: enaptin
lang: en
text: myocyte nuclear envelope protein 1
lang: en
text: nuclear envelope spectrin repeat-1
GeneType: Name: gene with protein product
Rare disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome (Orphanet code 88637)
Associated genes:
Name: RNA polymerase III subunit B
Symbol: POLR3B
Synonyms: lang: en
text: C128
lang: en
text: FLJ10388
lang: en
text: RPC2
GeneType: Name: gene with protein product
Name: RNA polymerase I and III subunit C
Symbol: POLR1C
Synonyms: lang: en
text: AC40
lang: en
text: RPA39
lang: en
text: RPA40
lang: en
text: RPA5
lang: en
text: RPAC1
lang: en
text: RPC40
GeneType: Name: gene with protein product
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: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet code 88639)
Associated genes:
Name: 3-hydroxyisobutyryl-CoA hydrolase
Symbol: HIBCH
GeneType: Name: gene with protein product
Rare disease: Congenital insensitivity to pain-anosmia-neuropathic arthropathy (Orphanet code 88642)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 9
Symbol: SCN9A
Synonyms: lang: en
text: ETHA
lang: en
text: NE-NA
lang: en
text: NENA
lang: en
text: Nav1.7
lang: en
text: PN1
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 10
Symbol: SCN10A
Synonyms: lang: en
text: Nav1.8
lang: en
text: PN3
lang: en
text: SNS
lang: en
text: hPN3
lang: en
text: peripheral nerve sodium channel 3
lang: en
text: sensory neuron sodium channel
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 11
Symbol: SCN11A
Synonyms: lang: en
text: NaN
lang: en
text: Nav1.9
lang: en
text: SNS-2
GeneType: Name: gene with protein product
Rare disease: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates (Orphanet code 88635)
Associated genes:
Name: calsequestrin 1
Symbol: CASQ1
Synonyms: lang: en
text: CSQ1
lang: en
text: PDIB1
lang: en
text: calmitine
lang: en
text: calsequestrin 1, fast-twitch, skeletal muscle
GeneType: Name: gene with protein product
Rare disease: Ichthyosis-prematurity syndrome (Orphanet code 88621)
Associated genes:
Name: solute carrier family 27 member 4
Symbol: SLC27A4
Synonyms: lang: en
text: ACSVL4
lang: en
text: FATP-4
lang: en
text: FATP4
lang: en
text: Long-chain fatty acid transport protein 4
lang: en
text: acyl-CoA synthetase very long chain family member 4
lang: en
text: fatty acid transport protein 4
GeneType: Name: gene with protein product
Rare disease: Posterior column ataxia-retinitis pigmentosa syndrome (Orphanet code 88628)
Associated genes:
Name: FLVCR choline and heme transporter 1
Symbol: FLVCR1
Synonyms: lang: en
text: FLVCR
lang: en
text: MFSD7B
lang: en
text: PCA
lang: en
text: SLC49A1
GeneType: Name: gene with protein product
Rare disease: Tritanopia (Orphanet code 88629)
Associated genes:
Name: opsin 1, short wave sensitive
Symbol: OPN1SW
Synonyms: lang: en
text: BOP
lang: en
text: CBT
lang: en
text: blue-sensitive opsin
lang: en
text: color blindness, tritan
GeneType: Name: gene with protein product
Rare disease: Terminal osseous dysplasia-pigmentary defects syndrome (Orphanet code 88630)
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: Isolated congenital anosmia (Orphanet code 88620)
Associated genes:
Name: teneurin transmembrane protein 1
Symbol: TENM1
Synonyms: lang: en
text: TEN-M1
lang: en
text: TEN1
GeneType: Name: gene with protein product
Name: cyclic nucleotide gated channel subunit alpha 2
Symbol: CNGA2
Synonyms: lang: en
text: CNG2
lang: en
text: FLJ46312
lang: en
text: OCNC1
lang: en
text: OCNCALPHA
lang: en
text: OCNCa
lang: en
text: OCNCalpha
GeneType: Name: gene with protein product
Rare disease: Familial acute necrotizing encephalopathy (Orphanet code 88619)
Associated genes:
Name: RAN binding protein 2
Symbol: RANBP2
Synonyms: lang: en
text: ADANE
lang: en
text: NUP358
lang: en
text: nucleoporin 358
GeneType: Name: gene with protein product
Rare disease: S-adenosylhomocysteine hydrolase deficiency (Orphanet code 88618)
Associated genes:
Name: adenosylhomocysteinase
Symbol: AHCY
Synonyms: lang: en
text: AdoHcyase
lang: en
text: SAHH
GeneType: Name: gene with protein product
Rare disease: Mal de Meleda (Orphanet code 87503)
Associated genes:
Name: secreted LY6/PLAUR domain containing 1
Symbol: SLURP1
Synonyms: lang: en
text: ANUP
lang: en
text: ARS
lang: en
text: ARS component B
lang: en
text: ArsB
lang: en
text: LY6-MT
lang: en
text: LY6LS
lang: en
text: MDM
lang: en
text: lymphocyte antigen 6-like secreted
GeneType: Name: gene with protein product
Rare disease: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type (Orphanet code 86923)
Associated genes:
Name: secreted LY6/PLAUR domain containing 1
Symbol: SLURP1
Synonyms: lang: en
text: ANUP
lang: en
text: ARS
lang: en
text: ARS component B
lang: en
text: ArsB
lang: en
text: LY6-MT
lang: en
text: LY6LS
lang: en
text: MDM
lang: en
text: lymphocyte antigen 6-like secreted
GeneType: Name: gene with protein product
Name: serpin family A member 12
Symbol: SERPINA12
Synonyms: lang: en
text: OL-64
lang: en
text: Vaspin
lang: en
text: visceral adipose tissue-derived serine protease inhibitor
GeneType: Name: gene with protein product
Rare disease: Dermatopathia pigmentosa reticularis (Orphanet code 86920)
Associated genes:
Name: keratin 14
Symbol: KRT14
Synonyms: lang: en
text: epidermolysis bullosa simplex, Dowling-Meara, Koebner
GeneType: Name: gene with protein product
Rare disease: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (Orphanet code 522077)
Associated genes:
Name: synaptotagmin 1
Symbol: SYT1
Synonyms: lang: en
text: P65
GeneType: Name: gene with protein product
Rare disease: Epilepsy with myoclonic absences (Orphanet code 86911)
Associated genes:
Name: solute carrier family 2 member 1
Symbol: SLC2A1
Synonyms: lang: en
text: DYT18
lang: en
text: DYT9
lang: en
text: GLUT-1
lang: en
text: dystonia gene 18
lang: en
text: dystonia gene 9
GeneType: Name: gene with protein product
Rare disease: LAMA5-related multisystemic syndrome (Orphanet code 521450)
Associated genes:
Name: laminin subunit alpha 5
Symbol: LAMA5
Synonyms: lang: en
text: laminin alpha5-chain
GeneType: Name: gene with protein product
Rare disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (Orphanet code 521445)
Associated genes:
Name: ADAMTS like 1
Symbol: ADAMTSL1
Synonyms: lang: en
text: ADAMTSR1
lang: en
text: FLJ35283
lang: en
text: punctin
lang: en
text: punctin-1
GeneType: Name: gene with protein product
Rare disease: Congenital vertebral-cardiac-renal anomalies syndrome (Orphanet code 521438)
Associated genes:
Name: kynureninase
Symbol: KYNU
Synonyms: lang: en
text: L-kynurenine hydrolase
GeneType: Name: gene with protein product
Name: NAD synthetase 1
Symbol: NADSYN1
Synonyms: lang: en
text: FLJ10631
GeneType: Name: gene with protein product
Name: 3-hydroxyanthranilate 3,4-dioxygenase
Symbol: HAAO
Synonyms: lang: en
text: 3-HAO
lang: en
text: 3-hydroxyanthranilic-acid dioxygenase
lang: en
text: HAO
GeneType: Name: gene with protein product
Rare disease: Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome (Orphanet code 521432)
Associated genes:
Name: cytochrome P450 family 51 subfamily A member 1
Symbol: CYP51A1
Synonyms: lang: en
text: CP51
lang: en
text: CYPL1
lang: en
text: LDM
lang: en
text: P450-14DM
lang: en
text: P450L1
GeneType: Name: gene with protein product
Rare disease: PLAA-associated neurodevelopmental disorder (Orphanet code 521426)
Associated genes:
Name: phospholipase A2 activating protein
Symbol: PLAA
Synonyms: lang: en
text: DOA1
lang: en
text: DOA1 homolog (S. cerevisiae)
lang: en
text: FLJ11281
lang: en
text: FLJ12699
lang: en
text: PLA2P
lang: en
text: PLAP
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2DD (Orphanet code 521414)
Associated genes:
Name: ATPase Na+/K+ transporting subunit alpha 1
Symbol: ATP1A1
Synonyms: lang: en
text: sodium pump subunit alpha-1
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-1
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-1
GeneType: Name: gene with protein product
Rare disease: Xq25 microduplication syndrome (Orphanet code 521258)
Associated genes:
Name: STAG2 cohesin complex component
Symbol: STAG2
Synonyms: lang: en
text: Cohesin subunit SA-2
lang: en
text: SA-2
lang: en
text: SA2
lang: en
text: SA2 stromalin
lang: en
text: SCC3B
lang: en
text: sister chromatid cohesion 3 homolog (S. cerevisiae) B
GeneType: Name: gene with protein product
Rare disease: Proximal myopathy with focal depletion of mitochondria (Orphanet code 521305)
Associated genes:
Name: choline kinase beta
Symbol: CHKB
Synonyms: lang: en
text: CHETK
GeneType: Name: gene with protein product
Rare disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome (Orphanet code 521390)
Associated genes:
Name: kinase D interacting substrate 220
Symbol: KIDINS220
Synonyms: lang: en
text: ARMS
lang: en
text: ankyrin repeat-rich membrane-spanning protein
GeneType: Name: gene with protein product
Rare disease: Dystonia-parkinsonism-hypermanganesemia syndrome (Orphanet code 521406)
Associated genes:
Name: solute carrier family 39 member 14
Symbol: SLC39A14
Synonyms: lang: en
text: KIAA0062
lang: en
text: Metal cation symporter ZIP14
lang: en
text: NET34
lang: en
text: ZIP-14
lang: en
text: ZIP14
lang: en
text: ZRT/IRT-like protein 14
lang: en
text: zinc transporter 14
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive generalized epidermolysis bullosa simplex (Orphanet code 89838)
Associated genes:
Name: keratin 14
Symbol: KRT14
Synonyms: lang: en
text: epidermolysis bullosa simplex, Dowling-Meara, Koebner
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (Orphanet code 521411)
Associated genes:
Name: synthesis of cytochrome C oxidase 2
Symbol: SCO2
Synonyms: lang: en
text: SCO1L
GeneType: Name: gene with protein product
Rare disease: MUC1-related autosomal dominant tubulointerstitial kidney disease (Orphanet code 88949)
Associated genes:
Name: mucin 1, cell surface associated
Symbol: MUC1
Synonyms: lang: en
text: ADMCKD
lang: en
text: ADMCKD1
lang: en
text: CD227
lang: en
text: Ca15-3
lang: en
text: EMA
lang: en
text: KL-6
lang: en
text: MCD
lang: en
text: MCKD
lang: en
text: PEM
lang: en
text: epithelial membrane antigen
GeneType: Name: gene with protein product
Rare disease: UMOD-related autosomal dominant tubulointerstitial kidney disease (Orphanet code 88950)
Associated genes:
Name: uromodulin
Symbol: UMOD
Synonyms: lang: en
text: Tamm-Horsfall glycoprotein
lang: en
text: uromucoid
GeneType: Name: gene with protein product
Rare disease: Pseudohypoaldosteronism type 2C (Orphanet code 88940)
Associated genes:
Name: WNK lysine deficient protein kinase 1
Symbol: WNK1
Synonyms: lang: en
text: HSAN2
lang: en
text: PPP1R167
lang: en
text: protein phosphatase 1, regulatory subunit 167
GeneType: Name: gene with protein product
Rare disease: Pseudohypoaldosteronism type 2B (Orphanet code 88939)
Associated genes:
Name: WNK lysine deficient protein kinase 4
Symbol: WNK4
GeneType: Name: gene with protein product