MCID: HYP617
MIFTS: 37

Hyperoxaluria, Primary, Type 1 malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases, Eye diseases

Aliases & Classifications for Hyperoxaluria, Primary, Type 1

About this section
Sources:
49OMIM, 11diseasecard, 22GeneTests, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 21GeneReviews, 47Novoseek, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hyperoxaluria, Primary, Type 1:

Name: Hyperoxaluria, Primary, Type 1 49 11 22
Glycolic Aciduria 45 22 51 67
Alanine-Glyoxylate Aminotransferase Deficiency 45 22 67
Primary Hyperoxaluria Type 1 21 45 51
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency 45 67
Serine Pyruvate Aminotransferase Deficiency 45 67
Primary Hyperoxaluria Type I 67 24
Hepatic Agt Deficiency 45 67
Hp1 45 67
 
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency 51
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 22
Hyperoxaluria, Primary, Type I 47
Primary Hyperoxaluria, Type I 65
Hyperoxaluria Primary Type I 67
Hyperoxaluria Primary 1 67
Oxalosis I 67
Oxalosis 1 45
Ph1 67

Characteristics:

Orphanet epidemiological data:

51
glycolic aciduria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France); Age of onset: All ages; Age of death: any age

HPO:

61
hyperoxaluria, primary, type 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 259900
Orphanet51 93598
ICD10 via Orphanet28 E74.8
MESH via Orphanet37 C536414
UMLS via Orphanet66 C0268164
MedGen34 C0268164
MeSH36 D006960
UMLS65 C0268164

Summaries for Hyperoxaluria, Primary, Type 1

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NIH Rare Diseases:45 Primary hyperoxaluria type 1 (ph1) is a rare disorder characterized by the accumulation of oxalate. people affected with this condition may have only some crisis of kidney stones or more severe problems. since oxalate is eliminated by the kidney, it accumulates throughout the body in cases of kidney failure, a state termed oxalosis. affected organs can include bones, joints (oxalate arthropathy) heart, eyes, and skin.  ph1 is due to a defect of the liver enzyme angiotensinogen (agt) caused by mutations in the agxt gene. the defect in agt results in an increase of the glyoxylate pool, which is converted to oxalate (poorly soluble) and glycolate. clinical diagnosis is made based on the symptoms, the stone composition of oxalate, creatinine ratio, molecular genetic testing and infrequently by liver biopsy. early treatment is essential for maintaining kidney function. treatment involves minimizing calcium oxalate deposition before kidney failure by inducing urination and by giving vitamin b6 (pyridoxine) and calcium-oxalate crystallization inhibitors (citrate, pyrophosphate, and magnesium). last updated: 10/1/2015

MalaCards based summary: Hyperoxaluria, Primary, Type 1, also known as glycolic aciduria, is related to primary hyperoxaluria and hyperoxaluria, primary, type iii, and has symptoms including gangrene, retinal crystals and increased bone mineral density. An important gene associated with Hyperoxaluria, Primary, Type 1 is AGXT (Alanine-Glyoxylate Aminotransferase). Affiliated tissues include kidney, bone and eye.

OMIM:49 Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in... (259900) more...

UniProtKB/Swiss-Prot:67 Hyperoxaluria primary 1: An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.

GeneReviews summary for NBK1283

Related Diseases for Hyperoxaluria, Primary, Type 1

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Graphical network of the top 20 diseases related to Hyperoxaluria, Primary, Type 1:



Diseases related to hyperoxaluria, primary, type 1

Symptoms for Hyperoxaluria, Primary, Type 1

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Symptoms by clinical synopsis from OMIM:

259900

Clinical features from OMIM:

259900

HPO human phenotypes related to Hyperoxaluria, Primary, Type 1:

(show all 20)
id Description Frequency HPO Source Accession
1 gangrene HP:0100758
2 retinal crystals HP:0030507
3 increased bone mineral density HP:0011001
4 peripheral neuropathy HP:0009830
5 calcium oxalate nephrolithiasis HP:0008672
6 peripheral artery occlusive disease HP:0005315
7 intermittent claudication HP:0004417
8 hyperoxaluria HP:0003159
9 pathologic fracture HP:0002756
10 bone pain HP:0002653
11 metabolic acidosis HP:0001942
12 atrioventricular block HP:0001678
13 optic neuropathy HP:0001138
14 acrocyanosis HP:0001063
15 cutis marmorata HP:0000965
16 hematuria HP:0000790
17 optic atrophy HP:0000648
18 retinopathy HP:0000488
19 nephrocalcinosis HP:0000121
20 renal insufficiency HP:0000083

Drugs & Therapeutics for Hyperoxaluria, Primary, Type 1

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Drugs for Hyperoxaluria, Primary, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 59)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Protective AgentsPhase 35651
2Calcium, DietaryPhase 2, Phase 34678
3
Vorinostatapproved, investigationalPhase 2238149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
4
PravastatinapprovedPhase 214481093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
Oliprevin
 
Pravachol
Pravaselect
Pravastatin
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
5
Pyridoxineapproved, nutraceuticalPhase 216565-23-61054
Synonyms:
(5-hydroxy-4,6-dimethylpyridin-3-yl)methyl phosphate
12001-78-4
2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin [German]
2-Methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-Methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine
2-methyl-3-hydroxy-4,5-bis(hydroxy-methyl) pyridine
2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-methyl-4,5-dimethylol-pyridin-3-ol
2B3E07D2-E4CC-4CC5-B085-6070BA01F9F0
3,4-Pyridinedimethanol, 5-hydroxy-6-methyl-, hydrochloride
3-Hydroxy-2-Picoline-4,5-dimethanol
3-Hydroxy-4,5-dihydroxymethyl-2-methylpyridine hydrochloride
3-Hydroxy-4,5-dimethylol-.alpha.-picoline hydrochloride
3-Hydroxy-4,5-dimethylol-alpha-picoline
3-Hydroxy-4,5-dimethylol-alpha-picoline hydrochloride
3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine
4,5-Bis(hydroxymethyl)-2-methyl-3-pyridinol
4,5-Bis(hydroxymethyl)-2-methylpyridin-3-ol hydrochloride
4,5-bis(hydroxymethyl)-2-methyl-3-pyridinol hydrochloride
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol
4,5-bis(hydroxymethyl)-2-methylpyridine-3-ol
4-Deoxypyridoxine 5'-phosphate
47862_SUPELCO
5-Hydroxy-6-methyl-3,4-pyridinedicarbinol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol
5-Hydroxy-6-methyl-3,4-pyridinedimethanol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol, hydrochloride
58-56-0
58-56-0 (HCL)
58-56-0 (hydrochloride)
65-23-6
65-23-6 (Parent)
8059-24-3
85078-23-5
AC-12024
AC-14512
AC-907/25014218
AC1L1AMH
AC1L1LMI
AC1L2XK2
AC1Q22HP
AC1Q2G66
AC1Q3F63
AI3-19016
AIDS-006784
AIDS006784
AR-1A6363
AR-1J1632
Adermin hydrochloride
Adermine
Adermine hydrochloride
Aderomine hydrochloride
Aderoxin
Aderoxine
Alestrol
BB_NC-0050
BIDD:PXR0180
BPBio1_000646
BSPBio_000586
Becilan
Beesix
Benadon
Bonasanit
C00314
C8H11NO3
CAS-58-56-0
CBDivE_015627
CCRIS 1903
CHEBI:16709
CHEBI:30961
CHEMBL1200756
CHEMBL1364
CID104817
CID1054
CID6019
CPD0-1221
Campoviton 6
Cernevit-12
D02179
D025101
D08454
DB00165
EINECS 200-386-2
EINECS 200-603-0
EINECS 232-503-8
Godabion
Gravidox
HMS1569N08
HMS2093L07
HSDB 1212
Hexa-Betalin
Hexa-Betalin (R)
Hexa-betalin (TN)
Hexabetalin
Hexabione hydrochloride
Hexavibex
 
Hexermin
Hexermine
Hexobion
Hydoxin
I02-1897
I02-2297
KST-1A8556
LS-134393
LS-187072
LS-2332
MLS001074329
MLS002153915
MolPort-002-137-856
MolPort-002-319-991
MolPort-005-933-330
NCGC00016261-01
NCGC00164317-01
NCGC00180946-01
NSC 36225
NSC36225
NSC36225 (HCL)
Nestrex
Oprea1_061614
P0561
P4722_SIAL
P5669_SIGMA
P6280_SIGMA
P8666_SIGMA
P9755_SIAL
PN
PN HCl
PYRIDOXINE HYDROCHLORIDE
PYRIDOXINE HYDROCHLORIDE, U.S.P.
Paxadon
Piridossina
Piridossina [DCIT]
Piridoxina
Piridoxina [INN-Spanish]
Prestwick0_000623
Prestwick1_000623
Prestwick2_000623
Prestwick3_000623
Prestwick_925
Pydox
Pyridipca
Pyridox
Pyridoxin
Pyridoxin hydrochloride
Pyridoxine
Pyridoxine (INN)
Pyridoxine HCl
Pyridoxine Hydrochloride
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride
Pyridoxine hydrochloride (JP15/USP)
Pyridoxine hydrochloride [USAN:JAN]
Pyridoxine hydrogen chloride
Pyridoxine monohydrochloride
Pyridoxine, hydrochloride
Pyridoxine-HCl Microencapsulated
Pyridoxinium chloride
Pyridoxinum
Pyridoxinum [INN-Latin]
Pyridoxinum hydrochloricum
Pyridoxinum hydrochloricum (Hungarian)
Pyridoxol
Pyridoxol hydrochloride
Pyridoxol, hydrochloride
Pyridoxolum
Rodex
Rodex (R)
Rodex TD
SMP2_000230
SMR000674613
SPBio_002805
STK177324
STOCK1N-08684
Spondylonal
Tex Six T.R.
TimTec1_000657
UNII-68Y4CF58BV
UNII-KV2JZ1BI6Z
Vitamin B 6
Vitamin B6
Vitamin B6-hydrochloride
Vitamin V6
Vitamin V6 (TN)
Vitamin-?B6
Vitamin-?B6 hydrochloride
Vitaped
WLN: T6NJ B1 CQ D1Q E1Q &GH
ZINC00049154
ZINC21983293
bmse000288
c1302
component of Alestrol
nchembio.93-comp1
pyridoxine
vitamin B6
6
Pyridoxalapproved, nutraceuticalPhase 216365-22-5, 66-72-81050
Synonyms:
3-HYDROXY-5-(hydroxymethyl)-2-methylisonicotinaldehyde
 
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Pyridoxal
Pyridoxaldehyde
7
Folic Acidapproved, nutraceuticalPhase 2292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
8Gastrointestinal AgentsPhase 26401
9
BetainePhase 232107-43-7247
Synonyms:
(Carboxymethyl)trimethylammonium hydroxide inner salt
(Trimethylammonio)acetate
1-Carboxy-N,N,N-trimethyl-Methanaminium
1-Carboxy-N,N,N-trimethyl-Methanaminium hydroxide
1-Carboxy-N,N,N-trimethylmethanaminium inner salt
Abromine
Aminocoat
Betafin
Betafin BCR
Betafin BP
Betaine
Cystadane
Ektasolve EE
FinnStim
Glycine betaine
 
Glycocoll betaine
Glycylbetaine
Greenstim
Loramine AMB 13
Loramine AMB-13
Lycine
N,N,N-Trimethylglycine
Oxyneurine
Rubrine C
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
10Hypolipidemic AgentsPhase 22228
11Histone Deacetylase InhibitorsPhase 2532
12Contraceptives, OralPhase 23734
13AntimetabolitesPhase 29454
14Vitamin B ComplexPhase 22847
15Pharmaceutical SolutionsPhase 27004
16MicronutrientsPhase 23901
17VitaminsPhase 23857
18Trace ElementsPhase 23900
19Vitamin B 6Phase 2165
20Bone Density Conservation AgentsPhase 22600
21Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21804
22DiphosphonatesPhase 2381
23Anticholesteremic AgentsPhase 21732
24
Zoledronic acidPhase 2286118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
 
DB00399
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zoledronate
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
25
Pyridoxal PhosphatenutraceuticalPhase 21454-47-71051
Synonyms:
(4-Formyl-5-hydroxy-6-methyl(3-pyridyl))methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methyl-3-pyridinyl)methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate trihydrate
2-Methyl-3-hydroxy-4-formyl-5-pyridylmethylphosphoric acid
3-Hydroxy-2-methyl-5-((phosphonooxy)methyl)-4-pyridinecarboxaldehyde
3-Hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate
3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde
4-Formyl-5-hydroxy-6-methyl-pyridin-3-yl)methoxyphosphonic acid
4-Pyridinecarboxaldehyde, 3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]- (9CI)
52064-48-9
52441-27-7
54-47-7
A26BDB6A-282A-4D13-A916-7B2B215B0FD6
AC1L1AM8
AC1Q2P2R
Apolon B(sub 6)
Apolon B6
Biosechs
C00018
CHEBI:18405
CHEMBL82202
CID1051
Codecarboxylase
Coenzyme B6
DB00114
EINECS 200-208-3
HI-Pyridoxin
Hairoxal
Hexermin P
Hexermin-P
Hi-Pyridoxin
Hiadelon
Himitan
Isonicotinaldehyde, 3-hydroxy-5-(hydroxymethyl)-2-methyl-, 5-(dihydrogen phosphate)
LS-134383
MolPort-003-939-335
NCGC00166300-01
NSC 82388
NSC82388
P-5'-P
PAL-P
PLP
PYRIDOXAL-5-PHOSPHATE
Pal-P
Phosphopyridoxal
Phosphopyridoxal coenzyme
Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester
Phosphoridoxal coenzyme
 
Pidopidon
Piodel
Pydoxal
Pyrido
Pyridoxal 5'-(dihydrogen phosphate)
Pyridoxal 5'-phosphate
Pyridoxal 5'-phosphate hydrate
Pyridoxal 5'-phosphate monohydrate - Vitamin B6
Pyridoxal 5'-phosphate monohydrate, vitamin B6
Pyridoxal 5-monophosphoric acid ester
Pyridoxal 5-phosphate
Pyridoxal P
Pyridoxal monophosphate
Pyridoxal phosphate
Pyridoxal phosphate (6CI)
Pyridoxal phosphate [JAN]
Pyridoxal phosphate treated .beta.-lactoglobulin from bovine whey
Pyridoxal, 5-(dihydrogen phosphate)
Pyridoxal, 5-(dihydrogen phosphate) (8CI)
Pyridoxal, 5-(dihydrogenphosphate)
Pyridoxal-5'-phosphate
Pyridoxal-5-Phosphate Hydrate
Pyridoxal-5-monophosphate
Pyridoxal-5P
Pyridoxal-P
Pyridoxaldehyde phosphate
Pyridoxyl phosphate
Pyromijin
SBB065295
SGCUT00188
SRI 2392
Sechvitan
Sechvitan, Vitahexin P
TL8005582
VITAMIN B6 COMPLEX
Vitahexin P
Vitahexin-P
Vitamin B6 phosphate
Vitamin B6 phosphate (ester)
Vitazechs
bmse000111
nchembio.237-comp3
nchembio.266-comp20
nchembio861-comp1
pyridoxal 5-monophosphoric acid ester
pyridoxal 5'-phosphate
pyridoxal 5-phosphate
pyridoxal phosphate
pyridoxal-5P
pyridoxal-P
to_000077
26Vitamin B9NutraceuticalPhase 22924
27FolateNutraceuticalPhase 22924
28AcidophilusNutraceuticalPhase 1, Phase 2482
29Brewer's YeastNutraceuticalPhase 1, Phase 226
30leucineNutraceuticalPhase 1, Phase 2103
31
Metronidazoleapproved418443-48-14173
Synonyms:
1-(2-hydroxy-1-ethyl)-2-methyl-5-nitroimidazole
1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(beta-Hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Oxyethyl)-2-methyl-5-nitroimidazole
1-(β-ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(β-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(β-oxyethyl)-2-methyl-5-nitroimidazole
1-Hydroxyethyl-2-methyl-5-nitroimidazole
2-(2-methyl-5-nitroimidazol-1-yl)ethanol
2-Methyl-5-nitro-1-imidazoleethanol
2-Methyl-5-nitroimidazole-1-ethanol
2-methyl-1-(2-hydroxyethyl)-5-nitroimidazole
2-methyl-3-(2-hydroxyethyl)-4-nitroimidazole
2-methyl-5-nitroimidazole-1-ethanol
443-48-1
46461_FLUKA
46461_RIEDEL
69198-10-3 (mono-hydrochloride)
99616-64-5
AB00052046
AC-10556
AC1L1HKS
AC1Q2P2Z
AKOS000269646
APMN
ARONIS24285
Acromona
Anagiardil
Apo-Metronidazole
Arilin
Atrivyl
BAS 02983617
BAY-5360
BCBcMAP01_000184
BIDD:GT0107
BPBio1_000004
BRD-K52020312-001-05-2
BRN 0611683
BSPBio_000002
BSPBio_002031
Bayer 5360
Bexon
Bio-0694
CAS-443-48-1
CB-01-14 MMX
CCRIS 410
CHEBI:39845
CHEBI:6909
CHEMBL137
CID4173
CONT
CPD000058175
Caswell No. 579AA
Clont
D00409
DB00916
Danizol
Deflamon
Deflamon-wirkstoff
DivK1c_000007
EINECS 207-136-1
EPA Pesticide Chemical Code 120401
Efloran
Elyzol
Entizol
Eumin
FLAGYL I.V. RTU IN PLASTIC CONTAINER
Flagemona
Flagesol
Flagil
Flagyl
Flagyl (TN)
Flagyl 375
Flagyl Er
Flagyl I.V.
Flagyl I.V. RTU
Flegyl
Florazole
Fossyol
Giatricol
Ginefla vir
Gineflavir
HMS1568A04
HMS1920N19
HMS2051G07
HMS2090B19
HMS2091F14
HMS500A09
HMS547C19
HSDB 3129
I14-0667
IDI1_000007
IDR-90105
KBio1_000007
KBio2_001515
KBio2_004083
KBio2_006651
KBio3_001531
KBioGR_000559
KBioSS_001515
Klion
Klont
LS-1264
M0924
M1547_SIGMA
M3761_FLUKA
M3761_SIGMA
M9036_SIGMA
METRO I.V
METRONIDAZOLE USP
MLS000028590
MLS000758286
Maybridge1_001999
Meronidal
Methronidazole
Methyl-5-nitroimidazole-1-ethanol
Metric
Metric 21
Metro Cream
Metro Gel
 
Metro I.V.
Metro I.V. In Plastic Container
MetroCream
MetroGel
MetroGel-Vaginal
MetroLotion
Metrocream
Metrodzhil
Metrogel
Metrogel-vaginal
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolotion
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole Topical Gel
Metronidazole [USAN:INN:BAN:JAN]
Metronidazole hydrochloride
Metronidazole in Plastic Container
Metronidazolo
Metronidazolo [DCIT]
Metronidazolum
Metronidazolum [INN-Latin]
Metrotop
Metrozine
Metryl
Mexibol
Mexibol 'silanes'
MolPort-000-141-892
MolPort-002-502-101
Monagyl
Monasin
NCGC00016446-01
NCGC00016446-02
NCGC00022059-03
NCGC00022059-04
NCGC00022059-05
NCIOpen2_000337
NIDA
NINDS_000007
NSC 50364
NSC 69587
NSC-50364
NSC50364
NSC69587
Nalox
Nidagel
Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
Rathimed
Rosadan
Rosased
S1907_Selleck
SAM001247010
SBB041018
SC 10295
SMP1_000189
SMR000058175
SPBio_000666
SPBio_001941
SPECTRUM1500412
STK177359
Sanatrichom
Satric
Spectrum2_000883
Spectrum3_000506
Spectrum4_000060
Spectrum5_001289
Spectrum_001035
Takimetol
Trichazol
Trichex
Tricho cordes
Tricho-gynaedron
Trichocide
Trichomol
Trichomonacid 'pharmachim'
Trichopal
Trichopol
Tricocet
Tricom
Tricowas B
Trikacide
Trikamon
Trikojol
Trikozol
Trimeks
Trivazol
UNII-140QMO216E
Vagilen
Vagimid
Vandazole
Vertisal
WLN: T5N CNJ A2Q B1 ENW
WLN: T5N CNJA2Q B1 ENW
WLN: T6NTJ DQ ANU1- ET5N CNJ A1 BNW
Wagitran
ZERO/004064
ZINC00113442
Zadstat
Zidoval
giniflavir
metronidazole
neo-Tric
32
Esomeprazoleapproved, investigational308161796-78-74594, 9579578
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(-)-omeprazole
(S)-(-)-Omeprazole
(S)-(−)-omeprazole
(S)-Omeprazole
(S)-omeprazole
(s)-omeprazole
(−)-omeprazole
119141-88-7
119141-89-8
131959-78-9
172964-80-6
193469-77-1
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
326602-80-6
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-((S)-((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{(S)-[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1-methyl-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
6-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Axagon
BIDD:GT0020
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:50275
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CID9568614
CID9579578
CPD000058847
Ceprandal
D00455
D07917
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazol
Esomeprazole
Esomeprazole (INN)
Esomeprazole Sodium
Esomeprazole [INN:BAN]
Esomeprazolum
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
InChI=1/C17H19N3O3S/c1-10-8-18-15(11(2)16(10)23-4)9-24(21)17-19-13-6-5-12(22-3)7-14(13)20-17/h5-8H,9H2,1-4H3,(H,19,20
Indurgan
Inexium paranova
Inexium paranova (TN)
Inhibitron
Inhipump
LS-185188
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
 
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
MolPort-005-943-880
Mopral
Morecon
NCGC00016925-01
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium Control
Nexium I.V.
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole (JAN/USP/INN)
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Perprazole
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UNII-N3PA6559FT
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
ZINC04693574
ZINC04693575
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
esomeprazole
esomeprazolum
omeprazole
Ésoméprazole
33
Clarithromycinapproved24681103-11-984029
Synonyms:
(14R)-14-Hydroxyclarithromycin
116836-41-0
6-O-Methylerythromycin
6-O-Methylerythromycin a
6-O-methyl erythromycin
81103-11-9
A-56268
AC-6813
AC1L1HJO
AC1L36NJ
AC1NFSZE
AC1NR4MY
AC1NSJWH
AC1O52DV
AC1Q6O1T
ANX-015
Abbotic
Abbott-56268
Adel
Astromen
BB_NC-1450
BIDD:GT0200
BSPBio_003453
Biaxin
Biaxin (TN)
Biaxin HP
Biaxin XL
Biaxin filmtab
Biaxin xl filmtab
Bicrolid
Bio-0020
C06912
C2220
C30H54O11.C9H19NO2
CCRIS 8833
CHEBI:136451
CHEBI:3732
CHEMBL143
CHEMBL1741
CID10147055
CID10328822
CID11814635
CID11828745
CID11969952
CID4663848
CID489010
CID5284534
CID5311050
CID54688
CID6426662
CID84029
CID9810688
CID9811194
CLA
CLARITHROMYCIN
CLM & IL-12
CPD000466382
CRL-1605 & Clarithromycin
CTY
Clacine
Clambiotic
Claribid
Claricide
Clarith
Clarithromycin
Clarithromycin & Interleukin-12
Clarithromycin (JP15/USP/INN)
Clarithromycin [USAN:INN:BAN:JAN]
Clarithromycin extended release
Clarithromycin suspension or tablets
Clarithromycina
Clarithromycine
Clarithromycine [INN-French]
 
Clarithromycinum
Clarithromycinum [INN-Latin]
Claritromicina
Claritromicina [INN-Spanish]
Clathromycin
Cyllid
Cyllind
D00276
DRG-0099
DivK1c_006655
HMS1922H09
HMS2051G18
HMS2090O11
HMS2094M05
Helas
Heliclar
I05-0074
KBio1_001599
KBio2_000509
KBio2_003077
KBio2_005645
KBio3_002673
KBioGR_001218
KBioSS_000509
Klacid
Klaciped
Klaricid
Klaricid H.P
Klaricid H.P.
Klaricid Pediatric
Klaricid XL
Klarid
Klarin
Klax
Kofron
LMPK04000014
LS-1812
Lactoferrin B & Clarithromycin
Lactoferrin H & Clarithromycin
MLS000759516
MLS001201751
MLS001424066
Mabicrol
Macladin
Maclar
Mavid
MolPort-002-507-425
MolPort-003-845-969
MolPort-005-910-192
MolPort-005-934-146
NCGC00178054-01
NSC643733
Naxy
O(6)-methylerythromycin
SAM001246748
SDP-015
SMR000466382
SPBio_001855
SPECTRUM1504231
STK801952
SpecPlus_000559
Spectrum2_001668
Spectrum3_001667
Spectrum4_000629
Spectrum5_001729
Spectrum_000089
TE-031
TE031
UNII-H1250JIK0A
Veclam
Zeclar
clarithromycin
clarithromycina
hydro-2H-pyran-2-yl]oxy}-7-methoxy-3,5,7,9,11,13-hexame
34
Amoxicillinapproved39126787-78-033613, 2171
Synonyms:
(-)-6-(2-Amino-2-(P-hydroxyphenyl)acetamido)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo-(3.2.0)heptane-2-carboxylic acid
(2S,5R,6R)-6-[[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino]-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
(2S,5R,6R)-6-{[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
26787-78-0
33911-69-2
34642-77-8 (mono-hydrochloride salt)
4-Thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid, 6-(2-amino-2-(p-hydroxyphenyl)acetamido)-3,3-dimethyl-7-oxo-, D- (8CI)
6-(D-(-)-alpha-Amino-p-hydroxyphenylacetamido)penicillanic acid
6-(D-(-)-p-Hydroxy-alpha-aminobenzyl)penicillin
6-(P-Hydroxy-alpha-aminophenylacetamido)penicillanic acid
6-(a-Amino-4-hydroxyphenylacetamido)penicillanic acid
6-(p-Hydroxy-alpha-aminophenylacetamido)penicillanic acid
6-(p-hydroxy-α-aminophenylacetamido)penicillanic acid
6-[[Amino(4-hydroxyphenyl)acetyl]amino]-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid, 9CI
61336-70-7 (TRIHYDRATE)
6beta-[(2R)-2-amino-2-(4-hydroxyphenyl)acetamido]-2,2-dimethylpenam-3alpha-carbonyl
6beta-[(2R)-2-amino-2-(4-hydroxyphenyl)acetamido]-2,2-dimethylpenam-3alpha-carboxylic acid
71447-36-4
81030-75-3
AC-12263
AC1L1PY2
AMC
AMOXICILLIN CRYSTALLINE
AMOXICILLIN PEDIATRIC
AMPC
AUGMENTIN '125'
AUGMENTIN '200'
AUGMENTIN '250'
AUGMENTIN '400'
AUGMENTIN '500'
AUGMENTIN '875'
AUGMENTIN ES-600
AX
Actimoxi
Almodan
Ambap26787-78-0
Amix
Amoclen
Amolin
Amopen
Amopenixin
Amoram
Amox
Amox 250 Cap 250mg
Amox 500 Cap 500mg
Amox S 125 Sus 125mg/5ml
Amox S 250 Sus 250mg/5ml
Amoxi
Amoxi-Mast
Amoxi-mast
Amoxibiotic
Amoxicaps
Amoxicilina
Amoxicilina [INN-Spanish]
Amoxicillin
Amoxicillin (INN)
Amoxicillin (TN)
Amoxicillin (anhydrous)
Amoxicillin (inn)
Amoxicillin Extended-release
Amoxicillin Trihydrate
Amoxicillin and clavulanate potassium
Amoxicillin anhydrous
Amoxicillin pediatric
Amoxicillin sodium
Amoxicillin trihydrate
Amoxicillin(usan)
Amoxicilline
Amoxicilline [INN-French]
Amoxicilline [INN]
Amoxicilline [inn]
Amoxicillinum
Amoxicillinum [INN-Latin]
Amoxid
Amoxiden
Amoxil
Amoxivet
Amoxycillin
Amoxycillin Trihydrate
Amoxycillin trihydrate
Amoxycillin, BAN
Amoxymed
Amrit
Anemolin
Apo-Amoxi
Apo-Amoxi Cap 250mg
Apo-Amoxi Cap 500mg
Apo-Amoxi Pwr for Susp 125mg/5ml
Apo-Amoxi Pwr for Susp 250mg/5ml
Apo-amoxi
Apo-amoxi sugar free
Aspenil
Augmentinxr
BL-P 1410
BLP 1410
BPBio1_000499
BRD-K55044200-001-03-9
BRL 2333
 
BRL-2333
BSPBio_000453
Biomox
Bristamox
C06827
CHEBI:2676
CHEBI:53712
CHEMBL1082
CID33613
CPD000058707
Cemoxin
Clamoxyl
Clamoxyl (SKB)
D-(-)-alpha-Amino-p-hydroxybenzyl penicillin
D-(-)-alpha-Amino-p-hydroxybenzylpenicillin
D-(alpha-Amino-p-hydroxybenzyl)penicillin
D-2-Amino-2-(4-hydroxyphenyl)acetamidopenicillanic acid
D-Amoxicillin
D07452
DB01060
Delacillin
DisperMox
Dispermox
EINECS 248-003-8
Efpenix
Flemoxin
Galenamox
Gen-Amoxicillin 250mg
Gen-Amoxicillin 500mg
HMS1569G15
HSDB 3204
Hiconcil
Histocillin
Hydroxyampicillin
Ibiamox
Imacillin
LS-149721
Lamoxy
Larotid
MLS000028632
MLS002222248
Metafarma capsules
Metifarma capsules
MolPort-003-981-182
MolPort-005-933-687
Moxacin
Moxal
Moxatag
NCGC00179554-01
NSC 277174
NSC277174
Novamoxin
Novamoxin Cap 250mg
Novamoxin Cap 500mg
Novamoxin Sus 125mg/5ml
Novamoxin Sus 250mg/5ml
Nu-Amoxi Cap 250mg
Nu-Amoxi Cap 500mg
Nu-Amoxi Sus 125/5ml
Nu-Amoxi Sus 250mg/5ml
Ospamox
P-Hydroxyampicillin
PHL-amoxicillin
PMS-amoxicillin
Pamoxicillin
Piramox
Polymox
Prestwick0_000357
Prestwick1_000357
Prestwick2_000357
Prestwick3_000357
Prestwick_713
Prevpac
Pro Amox Pwr for Oral Susp 125mg/5ml
Pro Amox-250 Cap 250mg
Pro Amox-500 Cap 500mg
Pro-Amox-250 Orl Sus 250mg/5ml
R-Hydroxyampicillin
Rimoxallin
Ro 10-8756
Robamox
SAM002264592
SMR000058707
SPBio_002374
Sauracillin
Sawamox PM
Sumox
Tolodina
Trimox
Unicillin
Utimox
Vetramox
Wymox
Zimox
alpha-Amino-p-hydroxybenzylpenicillin
alpha-amino-P-Hydroxybenzylpenicillin
amoxicillanyl
amoxicillin
p-Hydroxyampicillin
α-amino-p-hydroxybenzylpenicillin
35
Tetracyclineapproved8960-54-85280962, 5353990
Synonyms:
(-)-Tetracycline
(4S,4AS,5as,12as)-4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide
6-Methyl-1,11-dioxy-2-naphthacenecarboxamide
60-54-8
64-75-5 (mono-hydrochloride)
6591-49-7
87128_FLUKA
87128_SIGMA
AC-13151
AC1L1KAT
AC1NQXT7
AC1NRDAM
AC1NS4RQ
AC1NSDX8
AC1NTUT2
AC1NUZHL
AC1O52HS
Abramycin
Abricycline
Achromycin
Achromycin (naphthacene derivative)
Achromycin V
Achromycin, naphthacene derivative
Agromicina
Ambramicina
Ambramycin
Amycin
Anhydrotetracycline
BIDD:GT0653
BPBio1_000242
BSPBio_000220
BSPBio_001950
Bio-tetra
Biocycline
Bristaciclin
Bristaciclin .alpha.
Bristaciclina
Bristacycline
C06570
CHEBI:27902
CHEMBL1440
CID12309720
CID5280962
CID5289435
CID5353990
CID5359245
CID5388997
CID5412
CID5497101
CID6426717
Cefracycline
Cefracycline suspension
Centet (base)
Ciclibion
Copharlan
Criseociclina
Cyclomycin
Cyclopar
Cytome
D00201
DB00759
Democracin
Deschlorobiomycin
DivK1c_000827
Dumocyclin
EINECS 200-481-9
Enterocycline
HMS2090B04
HSDB 3188
Hostacyclin
IDI1_000827
KBio1_000827
KBio2_001514
KBio2_004082
KBio2_006650
KBio3_001450
KBioGR_000783
KBioSS_001514
LS-187078
LS-93869
Lemtrex (base)
Lexacycline
Limecycline
Liquamycin
Liquamycin (Veterinary)
Liquamycin, veterinary
MLS000069728
 
Medocycline
Mericycline
Micycline
MolPort-001-794-633
MolPort-003-983-460
MolPort-005-934-198
NCGC00161665-01
NINDS_000827
NSC 108579
NSC108579
Neocycline
Omegamycin
Orlycycline
Panmycin
Piracaps (base)
Polycycline
Polycycline (VAN)
Polycycline (antibiotic)
Polycycline, antibiotic
Polyotic
Prestwick0_000140
Prestwick1_000140
Prestwick2_000140
Prestwick3_000140
Purocyclina
Resteclin
Robitet
Roviciclina
SK-Tetracycline
SMR000058220
SPBio_001457
SPBio_002159
STOCK1N-42738
Sanclomycine
Solvocin
Spectrum2_001329
Spectrum3_000565
Spectrum4_000352
Spectrum5_001112
Spectrum_001034
Sumycin
Sumycin (TN)
Sumycin syrup
T-125
T3258_SIGMA
TETRACYCLINE
Tetra-Co
Tetrabon
Tetrachel
Tetraciclina
Tetraciclina [INN-Spanish]
Tetracycl
Tetracyclin
Tetracycline
Tetracycline & VRC3375
Tetracycline (JAN/USP/INN)
Tetracycline (internal use)
Tetracycline Free Base
Tetracycline HCl
Tetracycline Hydrochloride
Tetracycline I
Tetracycline II
Tetracycline Monohydrochloride
Tetracycline [USAN:INN:BAN:JAN]
Tetracycline hydrochloride
Tetracyclinum
Tetracyclinum [INN-Latin]
Tetracyn
Tetradecin
Tetrafil
Tetraverine
Tetrazyklin
Topicycline
Tsiklomistsin
Tsiklomitsin
UNII-F8VB5M810T
UPCMLD-DP127
UPCMLD-DP127:001
UPCMLD-DP127:002
Veracin
Vetacyclinum
Vetquamycin-324 (free base)
WLN: L E6 C666 BV FV CU GUTTT&J DQ EQ GVZ HQ IN1&1 MQ M1 RQ
component of Tetrastatin
methyl-1,11-dioxo-2-naphthacenecarboxamide
nchembio.273-comp1
nchembio.289-comp1
tetracycline
36
Ironapproved10217439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
37
Vitamin Eapproved, nutraceutical37159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
38Bismuth tripotassium dicitrate55
39
Proton pump inhibitors958
Synonyms:
 
PPIs
40
Bismuth1037440-69-916682734, 105143
Synonyms:
17034_FLUKA
24267-48-9
25243-76-9
264008_ALDRICH
265462_ALDRICH
265470_ALDRICH
452386_ALDRICH
556130_ALDRICH
7440-69-9
83Bi
95372_ALDRICH
95372_FLUKA
95375_FLUKA
AC1NSDYX
AC1O4PN8
AR-1I0647
BISMUTH, 99.95%
 
BISMUTH, 99.999%
Bi
Bismut
Bismuth standard for AAS
Bismuth standard for ICP
Bismuth(III) nitrate solution
Bismuth, elemental
Bismuth-209
C15471
CHEBI:33301
CID5359367
EINECS 231-177-4
HSDB 2078
LS-44708
LTBB002773
MolPort-003-925-759
Wismut
bismuth
bismuto
41Cytochrome P-450 Enzyme Inhibitors3036
42Cytochrome P-450 CYP3A Inhibitors1421
43Antiprotozoal Agents1730
44Tocotrienols372
45Anti-Ulcer Agents1453
46Antioxidants2442
47Antacids1453
48Tocopherols376
49Anti-Bacterial Agents9140
50Anti-Infective Agents17220

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria PatientsCompletedNCT00638703Phase 2, Phase 3
2Phase 2/3 Oxabact StudyCompletedNCT01037231Phase 2, Phase 3
3Low Salt Diet in Idiopathic HypercalciuriaCompletedNCT01005082Phase 2, Phase 3
4Renal Protective Effect of ACEI and ARB in Primary HyperoxaluriaWithdrawnNCT00280215Phase 3
5Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphateCompletedNCT01281878Phase 2
6Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary HyperoxaluriaCompletedNCT00283387Phase 2
7Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary HyperoxaluriaCompletedNCT02012985Phase 1, Phase 2
8Vorinostat in Treating Patients With Metastatic or Unresectable MelanomaCompletedNCT00121225Phase 2
9Use of Oral Probiotics to Reduce Urinary Oxalate ExcretionCompletedNCT00587041Phase 1, Phase 2
10Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1RecruitingNCT02706886Phase 1, Phase 2
11Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on DialysisRecruitingNCT02000219Phase 2
12Hydroxyproline Influence on Oxalate MetabolismRecruitingNCT02038543Phase 1, Phase 2
13Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With ProgeriaActive, not recruitingNCT00916747Phase 2
14A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or HyperoxaluriaWithdrawnNCT00490113Phase 2
15Enteric Oxalate Absorption Study in Unclassified HyperoxaluriaActive, not recruitingNCT00588120Phase 1
16Primary Hyperoxaluria Mutation GenotypingCompletedNCT00589225
17Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 DiabetesCompletedNCT01098994
18Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori EradicationCompletedNCT01306786
19Primary Hyperoxaluria Mutation Genotyping/PhenotypingRecruitingNCT02340689
20Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
21Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
22Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
23Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
24Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin GenotypeRecruitingNCT02312414
25Haptoglobin and Diabetes Complications in PregnancyRecruitingNCT01758016
26Associations Between Diabetes Care and Haptoglobin Genotype On outComesActive, not recruitingNCT00872456
27Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non ExacerbatorsNot yet recruitingNCT01745419
28The Type of Hepatoglobin in IUGRNot yet recruitingNCT02127385
29International Registry for Primary HyperoxaluriaWithdrawnNCT00875823

Search NIH Clinical Center for Hyperoxaluria, Primary, Type 1

Genetic Tests for Hyperoxaluria, Primary, Type 1

About this section

Genetic tests related to Hyperoxaluria, Primary, Type 1:

id Genetic test Affiliating Genes
1 Hyperoxaluria, Primary, Type 122 AGXT

Anatomical Context for Hyperoxaluria, Primary, Type 1

About this section

MalaCards organs/tissues related to Hyperoxaluria, Primary, Type 1:

33
Kidney, Bone, Eye, Heart, Liver, Skin, Testes

Animal Models for Hyperoxaluria, Primary, Type 1 or affiliated genes

About this section

Publications for Hyperoxaluria, Primary, Type 1

About this section

Variations for Hyperoxaluria, Primary, Type 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Hyperoxaluria, Primary, Type 1:

67 (show all 40)
id Symbol AA change Variation ID SNP ID
1AGXTp.Gly41ArgVAR_000588
2AGXTp.Phe152IleVAR_000589
3AGXTp.Gly170ArgVAR_000590
4AGXTp.Ser187PheVAR_000591
5AGXTp.Ser205ProVAR_000592
6AGXTp.Gly82GluVAR_008878
7AGXTp.Arg233CysVAR_008879
8AGXTp.Arg233HisVAR_008880
9AGXTp.Ile244ThrVAR_008881
10AGXTp.Gly41ValVAR_010969
11AGXTp.Gly116ArgVAR_010971
12AGXTp.Gly156ArgVAR_010972
13AGXTp.Asp183AsnVAR_010973
14AGXTp.Gly82ArgVAR_060548
15AGXTp.Trp108ArgVAR_060549
16AGXTp.Ala112AspVAR_060550
17AGXTp.Leu153ValVAR_060552
18AGXTp.Ser158LeuVAR_060553
19AGXTp.Gly161ArgVAR_060554
20AGXTp.Cys173TyrVAR_060555
21AGXTp.Gly190ArgVAR_060556
22AGXTp.Met195ArgVAR_060557
23AGXTp.Asp201GluVAR_060558
24AGXTp.Ser218LeuVAR_060559
25AGXTp.Arg233LeuVAR_060560
26AGXTp.Asp243HisVAR_060561
27AGXTp.Cys253ArgVAR_060562
28AGXTp.Ile279MetVAR_060563
29AGXTp.Ser287ThrVAR_060566
30AGXTp.Arg289CysVAR_060567
31AGXTp.Leu298ProVAR_060569
32AGXTp.Val336AspVAR_060571
33AGXTp.Gly350AspVAR_060572
34AGXTp.Arg36CysVAR_074582
35AGXTp.Gly41GluVAR_074583
36AGXTp.Gly47ArgVAR_074584
37AGXTp.Leu150ProVAR_074585
38AGXTp.Gly161CysVAR_074586
39AGXTp.Gly161SerVAR_074587
40AGXTp.Leu166ProVAR_074588

Clinvar genetic disease variations for Hyperoxaluria, Primary, Type 1:

5 (show all 182)
id Gene Variation Type Significance SNP ID Assembly Location
1AGXTNM_000030.2(AGXT): c.33dupC (p.Lys12Glnfs)duplicationPathogenicrs398122322GRCh37Chr 2, 241808315: 241808315
2AGXTNM_000030.2(AGXT): c.560C> T (p.Ser187Phe)single nucleotide variantPathogenicrs180177238GRCh37Chr 2, 241812431: 241812431
3AGXTNM_000030.2(AGXT): c.481G> T (p.Gly161Cys)single nucleotide variantLikely pathogenic, Pathogenicrs180177227GRCh37Chr 2, 241810823: 241810823
4AGXTNM_000030.2(AGXT): c.777-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs180177267GRCh37Chr 2, 241815351: 241815351
5AGXTNM_000030.2(AGXT): c.33delC (p.Lys12Argfs)deletionLikely pathogenic, Pathogenicrs180177205GRCh37Chr 2, 241808315: 241808315
6AGXTNM_000030.2(AGXT): c.302T> C (p.Leu101Pro)single nucleotide variantLikely pathogenic, Pathogenicrs180177195GRCh37Chr 2, 241808723: 241808723
7AGXTNM_000030.2(AGXT): c.322T> C (p.Trp108Arg)single nucleotide variantLikely pathogenic, Pathogenicrs180177197GRCh37Chr 2, 241808743: 241808743
8AGXTNM_000030.2(AGXT): c.752G> A (p.Trp251Ter)single nucleotide variantLikely pathogenicrs786204545GRCh38Chr 2, 240875180: 240875180
9AGXTNM_000030.2(AGXT): c.106C> T (p.Arg36Cys)single nucleotide variantLikely pathogenic, Pathogenicrs180177157GRCh37Chr 2, 241808388: 241808388
10AGXTNM_000030.2(AGXT): c.653C> T (p.Ser218Leu)single nucleotide variantLikely pathogenic, Pathogenicrs180177253GRCh37Chr 2, 241813452: 241813452
11AGXTNM_000030.2(AGXT): c.122G> T (p.Gly41Val)single nucleotide variantLikely pathogenic, Pathogenicrs180177168GRCh38Chr 2, 240868987: 240868987
12AGXTNM_000030.2(AGXT): c.1049G> A (p.Gly350Asp)single nucleotide variantLikely pathogenic, Pathogenicrs180177156GRCh37Chr 2, 241817545: 241817545
13AGXTNM_000030.2(AGXT): c.346G> A (p.Gly116Arg)single nucleotide variantLikely pathogenic, Pathogenicrs180177207GRCh38Chr 2, 240869350: 240869350
14AGXTNM_000030.2(AGXT): c.737G> A (p.Trp246Ter)single nucleotide variantLikely pathogenic, Pathogenicrs180177259GRCh37Chr 2, 241814582: 241814582
15AGXTNM_000030.2(AGXT): c.568G> A (p.Gly190Arg)single nucleotide variantLikely pathogenic, Pathogenicrs180177239GRCh37Chr 2, 241812439: 241812439
16AGXTNM_000030.2(AGXT): c.976delG (p.Val326Tyrfs)deletionLikely pathogenic, Pathogenicrs180177301GRCh37Chr 2, 241817472: 241817472
17AGXTNM_000030.2(AGXT): c.866G> A (p.Arg289His)single nucleotide variantPathogenicrs61729604GRCh38Chr 2, 240877556: 240877556
18AGXTNM_000030.2(AGXT): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs138584408GRCh37Chr 2, 241808284: 241808284
19AGXTNM_000030.2(AGXT): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs180177213GRCh38Chr 2, 240868868: 240868868
20AGXTNM_000030.2(AGXT): c.22G> C (p.Val8Leu)single nucleotide variantPathogenicrs796052057GRCh37Chr 2, 241808304: 241808304
21AGXTNM_000030.2(AGXT): c.28C> T (p.Pro10Ser)single nucleotide variantPathogenicrs180177191GRCh37Chr 2, 241808310: 241808310
22AGXTNM_000030.2(AGXT): c.32C> G (p.Pro11Arg)single nucleotide variantPathogenicrs34116584GRCh37Chr 2, 241808314: 241808314
23AGXTNM_000030.2(AGXT): c.74T> G (p.Leu25Arg)single nucleotide variantPathogenicrs180177262GRCh38Chr 2, 240868939: 240868939
24AGXTNM_000030.2(AGXT): c.77T> C (p.Leu26Pro)single nucleotide variantPathogenicrs180177268GRCh37Chr 2, 241808359: 241808359
25AGXTNM_000030.2(AGXT): c.107G> A (p.Arg36His)single nucleotide variantPathogenicrs180177162GRCh38Chr 2, 240868972: 240868972
26AGXTNM_000030.2(AGXT): c.122G> A (p.Gly41Glu)single nucleotide variantPathogenicrs180177168GRCh37Chr 2, 241808404: 241808404
27AGXTNM_000030.2(AGXT): c.125G> A (p.Gly42Glu)single nucleotide variantPathogenicrs180177170GRCh38Chr 2, 240868990: 240868990
28AGXTNM_000030.2(AGXT): c.130C> T (p.Gln44Ter)single nucleotide variantPathogenicrs180177172GRCh38Chr 2, 240868995: 240868995
29AGXTNM_000030.2(AGXT): c.139G> A (p.Gly47Arg)single nucleotide variantPathogenicrs180177173GRCh37Chr 2, 241808421: 241808421
30AGXTNM_000030.2(AGXT): c.167T> A (p.Ile56Asn)single nucleotide variantPathogenicrs180177180GRCh38Chr 2, 240869171: 240869171
31AGXTNM_000030.2(AGXT): c.175G> A (p.Glu59Lys)single nucleotide variantPathogenicrs767586362GRCh38Chr 2, 240869179: 240869179
32AGXTNM_000030.2(AGXT): c.187G> C (p.Gly63Arg)single nucleotide variantPathogenicrs180177181GRCh38Chr 2, 240869191: 240869191
33AGXTNM_000030.2(AGXT): c.205C> T (p.Gln69Ter)single nucleotide variantPathogenicrs180177182GRCh38Chr 2, 240869209: 240869209
34AGXTNM_000030.2(AGXT): c.209C> A (p.Thr70Asn)single nucleotide variantPathogenicrs796052058GRCh37Chr 2, 241808630: 241808630
35AGXTNM_000030.2(AGXT): c.242C> A (p.Ser81Ter)single nucleotide variantPathogenicrs180177184GRCh37Chr 2, 241808663: 241808663
36AGXTNM_000030.2(AGXT): c.242C> T (p.Ser81Leu)single nucleotide variantPathogenicrs180177184GRCh38Chr 2, 240869246: 240869246
37AGXTNM_000030.2(AGXT): c.244G> C (p.Gly82Arg)single nucleotide variantPathogenicrs180177185GRCh37Chr 2, 241808665: 241808665
38AGXTNM_000030.2(AGXT): c.248A> G (p.His83Arg)single nucleotide variantPathogenicrs180177186GRCh38Chr 2, 240869252: 240869252
39AGXTNM_000030.2(AGXT): c.254C> A (p.Ala85Asp)single nucleotide variantPathogenicrs796052059GRCh38Chr 2, 240869258: 240869258
40AGXTNM_000030.2(AGXT): c.283G> A (p.Glu95Lys)single nucleotide variantPathogenicrs180177189GRCh37Chr 2, 241808704: 241808704
41AGXTNM_000030.2(AGXT): c.323G> A (p.Trp108Ter)single nucleotide variantPathogenicrs180177198GRCh37Chr 2, 241808744: 241808744
42AGXTNM_000030.2(AGXT): c.324G> T (p.Trp108Cys)single nucleotide variantPathogenicrs796052060GRCh38Chr 2, 240869328: 240869328
43AGXTNM_000030.2(AGXT): c.326G> T (p.Gly109Val)single nucleotide variantPathogenicrs180177199GRCh38Chr 2, 240869330: 240869330
44AGXTNM_000030.2(AGXT): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs180177202GRCh38Chr 2, 240869335: 240869335
45AGXTNM_000030.2(AGXT): c.332G> A (p.Arg111Gln)single nucleotide variantPathogenicrs180177203GRCh38Chr 2, 240869336: 240869336
46AGXTNM_000030.2(AGXT): c.335C> A (p.Ala112Asp)single nucleotide variantPathogenicrs796052061GRCh38Chr 2, 240869339: 240869339
47AGXTNM_000030.2(AGXT): c.349G> T (p.Glu117Ter)single nucleotide variantPathogenicrs180177208GRCh38Chr 2, 240869353: 240869353
48AGXTNM_000030.2(AGXT): c.352C> T (p.Arg118Cys)single nucleotide variantPathogenicrs376844297GRCh38Chr 2, 240869356: 240869356
49AGXTNM_000030.2(AGXT): c.353G> A (p.Arg118His)single nucleotide variantPathogenicrs138025751GRCh37Chr 2, 241808774: 241808774
50AGXTNM_000030.2(AGXT): c.364C> T (p.Arg122Ter)single nucleotide variantPathogenicrs180177210GRCh37Chr 2, 241810066: 241810066
51AGXTNM_000030.2(AGXT): c.371A> C (p.His124Pro)single nucleotide variantPathogenicrs180177211GRCh37Chr 2, 241810073: 241810073
52AGXTNM_000030.2(AGXT): c.409C> T (p.Gln137Ter)single nucleotide variantPathogenicrs180177214GRCh38Chr 2, 240870694: 240870694
53AGXTNM_000030.2(AGXT): c.423G> T (p.Glu141Asp)single nucleotide variantPathogenicrs180177217GRCh38Chr 2, 240870708: 240870708
54AGXTNM_000030.2(AGXT): c.449T> C (p.Leu150Pro)single nucleotide variantPathogenicrs180177222GRCh38Chr 2, 240871374: 240871374
55AGXTNM_000030.2(AGXT): c.457T> G (p.Leu153Val)single nucleotide variantPathogenicrs180177223GRCh38Chr 2, 240871382: 240871382
56AGXTNM_000030.2(AGXT): c.473C> T (p.Ser158Leu)single nucleotide variantPathogenicrs180177225GRCh38Chr 2, 240871398: 240871398
57AGXTNM_000030.2(AGXT): c.473C> A (p.Ser158Ter)single nucleotide variantPathogenicrs180177225GRCh38Chr 2, 240871398: 240871398
58AGXTNM_000030.2(AGXT): c.481G> A (p.Gly161Ser)single nucleotide variantPathogenicrs180177227GRCh38Chr 2, 240871406: 240871406
59AGXTNM_000030.2(AGXT): c.481G> C (p.Gly161Arg)single nucleotide variantPathogenicrs180177227GRCh37Chr 2, 241810823: 241810823
60AGXTNM_000030.2(AGXT): c.497T> C (p.Leu166Pro)single nucleotide variantPathogenicrs180177230GRCh38Chr 2, 240871422: 240871422
61AGXTNM_000030.2(AGXT): c.518G> A (p.Cys173Tyr)single nucleotide variantPathogenicrs180177231GRCh38Chr 2, 240871443: 240871443
62AGXTNM_000030.2(AGXT): c.519C> A (p.Cys173Ter)single nucleotide variantPathogenicrs180177232GRCh38Chr 2, 240871444: 240871444
63AGXTNM_000030.2(AGXT): c.533G> A (p.Cys178Tyr)single nucleotide variantPathogenicrs180177235GRCh38Chr 2, 240872987: 240872987
64AGXTNM_000030.2(AGXT): c.547G> A (p.Asp183Asn)single nucleotide variantPathogenicrs180177236GRCh38Chr 2, 240873001: 240873001
65AGXTNM_000030.2(AGXT): c.583A> C (p.Met195Leu)single nucleotide variantPathogenicrs180177243GRCh37Chr 2, 241812454: 241812454
66AGXTNM_000030.2(AGXT): c.584T> G (p.Met195Arg)single nucleotide variantPathogenicrs180177244GRCh37Chr 2, 241812455: 241812455
67AGXTNM_000030.2(AGXT): c.595G> A (p.Gly199Ser)single nucleotide variantPathogenicrs796052062GRCh37Chr 2, 241812466: 241812466
68AGXTNM_000030.2(AGXT): c.603C> A (p.Asp201Glu)single nucleotide variantPathogenicrs180177246GRCh38Chr 2, 240873985: 240873985
69AGXTNM_000030.2(AGXT): c.605T> A (p.Ile202Asn)single nucleotide variantPathogenicrs536352238GRCh37Chr 2, 241813404: 241813404
70AGXTNM_000030.2(AGXT): c.612C> A (p.Tyr204Ter)single nucleotide variantPathogenicrs180177247GRCh38Chr 2, 240873994: 240873994
71AGXTNM_000030.2(AGXT): c.614C> T (p.Ser205Leu)single nucleotide variantPathogenicrs180177248GRCh37Chr 2, 241813413: 241813413
72AGXTNM_000030.2(AGXT): c.614C> A (p.Ser205Ter)single nucleotide variantPathogenicrs180177248GRCh37Chr 2, 241813413: 241813413
73AGXTNM_000030.2(AGXT): c.628G> C (p.Ala210Pro)single nucleotide variantPathogenicrs180177250GRCh37Chr 2, 241813427: 241813427
74AGXTNM_000030.2(AGXT): c.646G> A (p.Gly216Arg)single nucleotide variantPathogenicrs180177252GRCh37Chr 2, 241813445: 241813445
75AGXTNM_000030.2(AGXT): c.661T> C (p.Ser221Pro)single nucleotide variantPathogenicrs180177254GRCh37Chr 2, 241813460: 241813460
76AGXTNM_000030.2(AGXT): c.698G> T (p.Arg233Leu)single nucleotide variantPathogenicrs121908527GRCh37Chr 2, 241814543: 241814543
77AGXTNM_000030.2(AGXT): c.727G> C (p.Asp243His)single nucleotide variantPathogenicrs180177258GRCh37Chr 2, 241814572: 241814572
78AGXTNM_000030.2(AGXT): c.753G> A (p.Trp251Ter)single nucleotide variantPathogenicrs180177263GRCh38Chr 2, 240875181: 240875181
79AGXTNM_000030.2(AGXT): c.757T> C (p.Cys253Arg)single nucleotide variantPathogenicrs180177264GRCh37Chr 2, 241814602: 241814602
80AGXTNM_000030.2(AGXT): c.783T> A (p.His261Gln)single nucleotide variantPathogenicrs180177269GRCh37Chr 2, 241815358: 241815358
81AGXTNM_000030.2(AGXT): c.806T> C (p.Leu269Pro)single nucleotide variantPathogenicrs180177271GRCh37Chr 2, 241815381: 241815381
82AGXTNM_000030.2(AGXT): c.822G> C (p.Glu274Asp)single nucleotide variantPathogenicrs146525143GRCh38Chr 2, 240875980: 240875980
83AGXTNM_000030.2(AGXT): c.823A> C (p.Ser275Arg)single nucleotide variantPathogenicrs180177272GRCh37Chr 2, 241815398: 241815398
84AGXTNM_000030.2(AGXT): c.844C> T (p.Gln282Ter)single nucleotide variantPathogenicrs180177279GRCh37Chr 2, 241815419: 241815419
85AGXTNM_000030.2(AGXT): c.846G> C (p.Gln282His)single nucleotide variantPathogenicrs180177284GRCh38Chr 2, 240876004: 240876004
86AGXTNM_000030.2(AGXT): c.851T> C (p.Leu284Pro)single nucleotide variantPathogenicrs180177287GRCh37Chr 2, 241816958: 241816958
87AGXTNM_000030.2(AGXT): c.853G> T (p.Glu285Ter)single nucleotide variantPathogenicrs180177288GRCh37Chr 2, 241816960: 241816960
88AGXTNM_000030.2(AGXT): c.891T> G (p.Tyr297Ter)single nucleotide variantPathogenicrs180177292GRCh37Chr 2, 241816998: 241816998
89AGXTNM_000030.2(AGXT): c.893T> C (p.Leu298Pro)single nucleotide variantPathogenicrs180177293GRCh37Chr 2, 241817000: 241817000
90AGXTNM_000030.2(AGXT): c.907C> T (p.Gln303Ter)single nucleotide variantPathogenicrs180177294GRCh37Chr 2, 241817014: 241817014
91AGXTNM_000030.2(AGXT): c.922C> T (p.Gln308Ter)single nucleotide variantPathogenicrs180177296GRCh37Chr 2, 241817029: 241817029
92AGXTNM_000030.2(AGXT): c.947T> C (p.Leu316Pro)single nucleotide variantPathogenicrs796052063GRCh38Chr 2, 240878026: 240878026
93AGXTNM_000030.2(AGXT): c.956C> T (p.Pro319Leu)single nucleotide variantPathogenicrs180177299GRCh38Chr 2, 240878035: 240878035
94AGXTNM_000030.2(AGXT): c.996G> A (p.Trp332Ter)single nucleotide variantPathogenicrs796052064GRCh38Chr 2, 240878075: 240878075
95AGXTNM_000030.2(AGXT): c.997A> T (p.Arg333Ter)single nucleotide variantPathogenicrs180177303GRCh38Chr 2, 240878076: 240878076
96AGXTNM_000030.2(AGXT): c.1007T> A (p.Val336Asp)single nucleotide variantPathogenicrs180177155GRCh38Chr 2, 240878086: 240878086
97AGXTNM_000030.2(AGXT): c.1014C> G (p.Tyr338Ter)single nucleotide variantPathogenicrs756437332GRCh38Chr 2, 240878093: 240878093
98AGXTNM_000030.2(AGXT): c.1045G> A (p.Gly349Ser)single nucleotide variantPathogenicrs796052065GRCh38Chr 2, 240878124: 240878124
99AGXTNM_000030.2(AGXT): c.1076T> C (p.Leu359Pro)single nucleotide variantPathogenicrs180177160GRCh38Chr 2, 240878718: 240878718
100AGXTNM_000030.2(AGXT): c.1079G> A (p.Arg360Gln)single nucleotide variantPathogenicrs180177161GRCh38Chr 2, 240878721: 240878721
101AGXTNM_000030.2(AGXT): c.1102G> A (p.Ala368Thr)single nucleotide variantPathogenicrs180177163GRCh37Chr 2, 241818161: 241818161
102AGXTNM_000030.2(AGXT): c.1148C> A (p.Ala383Asp)single nucleotide variantPathogenicrs796052066GRCh38Chr 2, 240878790: 240878790
103AGXTNM_000030.2(AGXT): c.1151T> C (p.Leu384Pro)single nucleotide variantPathogenicrs180177165GRCh38Chr 2, 240878793: 240878793
104AGXTNM_000030.2(AGXT): c.358+1G> Tsingle nucleotide variantPathogenicrs796052067GRCh38Chr 2, 240869363: 240869363
105AGXTNM_000030.2(AGXT): c.358+2T> Gsingle nucleotide variantPathogenicrs113681235GRCh38Chr 2, 240869364: 240869364
106AGXTNM_000030.2(AGXT): c.680+1G> Csingle nucleotide variantPathogenicrs111996685GRCh37Chr 2, 241813480: 241813480
107AGXTNM_000030.2(AGXT): c.680+1G> Asingle nucleotide variantPathogenicrs111996685GRCh37Chr 2, 241813480: 241813480
108AGXTNM_000030.2(AGXT): c.680+2T> Asingle nucleotide variantPathogenicrs111742810GRCh37Chr 2, 241813481: 241813481
109AGXTNM_000030.2(AGXT): c.680+5G> Csingle nucleotide variantPathogenicrs180177256GRCh37Chr 2, 241813484: 241813484
110AGXTNM_000030.2(AGXT): c.776+1G> A (p.Met259fs)single nucleotide variantPathogenicrs180177265GRCh37Chr 2, 241814622: 241814622
111AGXTNM_000030.2(AGXT): c.776+1G> Csingle nucleotide variantPathogenicrs180177265GRCh37Chr 2, 241814622: 241814622
112AGXTNM_000030.2(AGXT): c.846+1G> Tsingle nucleotide variantPathogenicrs180177281GRCh38Chr 2, 240876005: 240876005
113AGXTNM_000030.2(AGXT): c.846+1G> Asingle nucleotide variantPathogenicrs180177281GRCh38Chr 2, 240876005: 240876005
114AGXTNM_000030.2(AGXT): c.942+1G> Tsingle nucleotide variantPathogenicrs180177297GRCh37Chr 2, 241817050: 241817050
115AGXTNM_000030.2(AGXT): c.1071+1G> Asingle nucleotide variantPathogenicrs180177158GRCh38Chr 2, 240878151: 240878151
116AGXTNM_000030.2(AGXT): c.166-1G> Asingle nucleotide variantPathogenicrs180177177GRCh38Chr 2, 240869169: 240869169
117AGXTNM_000030.2(AGXT): c.424-2A> G (p.Gly_142Gln145del)single nucleotide variantPathogenicrs180177219GRCh37Chr 2, 241810764: 241810764
118AGXTNM_000030.2(AGXT): c.525-1G> Asingle nucleotide variantPathogenicrs180177234GRCh37Chr 2, 241812395: 241812395
119AGXTNM_000030.2(AGXT): c.596-2A> Gsingle nucleotide variantPathogenicrs180177245GRCh37Chr 2, 241813393: 241813393
120AGXTNM_000030.2(AGXT): c.777-2A> Gsingle nucleotide variantPathogenicrs796052068GRCh37Chr 2, 241815350: 241815350
121AGXTNM_000030.2(AGXT): c.847-1G> Csingle nucleotide variantPathogenicrs180177285GRCh37Chr 2, 241816953: 241816953
122AGXTNM_000030.2(AGXT): c.847-3C> Gsingle nucleotide variantPathogenicrs180177286GRCh38Chr 2, 240877534: 240877534
123AGXTNM_000030.2(AGXT): c.943-1G> Tsingle nucleotide variantPathogenicrs180177298GRCh38Chr 2, 240878021: 240878021
124AGXTNM_000030.2(AGXT): c.943-1G> Asingle nucleotide variantPathogenicrs180177298GRCh38Chr 2, 240878021: 240878021
125AGXTNM_000030.2(AGXT): c.2_3delTGinsAT (p.Met1Asn)indelPathogenicrs180177194GRCh37Chr 2, 241808284: 241808285
126AGXTNM_000030.2(AGXT): c.32_33delCC (p.Pro11Glnfs)deletionPathogenicrs180177201GRCh37Chr 2, 241808314: 241808315
127AGXTNM_000030.2(AGXT): c.83delC (p.Pro28Leufs)deletionPathogenicrs180177278GRCh37Chr 2, 241808365: 241808365
128AGXTNM_000030.2(AGXT): c.116_117dupCA (p.Ala40Glnfs)duplicationPathogenicrs180177166GRCh38Chr 2, 240868981: 240868982
129AGXTNM_000030.2(AGXT): c.126delG (p.Leu43Cysfs)deletionPathogenicrs180177171GRCh38Chr 2, 240868991: 240868991
130AGXTNM_000030.2(AGXT): c.215dupA (p.Asn72Lysfs)duplicationPathogenicrs796052069GRCh38Chr 2, 240869219: 240869219
131AGXTNM_000030.2(AGXT): c.221_227dupTCACACT (p.Val77Hisfs)duplicationPathogenicrs180177183GRCh38Chr 2, 240869225: 240869231
132AGXTNM_000030.2(AGXT): c.276delT (p.Asn92Lysfs)deletionPathogenicrs180177187GRCh38Chr 2, 240869280: 240869280
133AGXTNM_000030.2(AGXT): c.283_285dupGAG (p.Glu95_Pro96insGlu)duplicationPathogenicrs180177190GRCh38Chr 2, 240869287: 240869289
134AGXTNM_000030.2(AGXT): c.299_307dupTCCTGGTTG (p.Val102_Gly103insValLeuVal)duplicationPathogenicrs180177193GRCh37Chr 2, 241808720: 241808728
135AGXTNM_000030.2(AGXT): c.327delG (p.Gln110Serfs)deletionPathogenicrs180177200GRCh38Chr 2, 240869331: 240869331
136AGXTNM_000030.2(AGXT): c.359-4_379deldeletionPathogenicrs796052070GRCh38Chr 2, 240870640: 240870664
137AGXTNM_000030.2(AGXT): c.416_418delTGG (p.Val139del)deletionPathogenicrs180177215GRCh37Chr 2, 241810118: 241810120
138AGXTNM_000030.2(AGXT): c.447_454delGCTGCTGT (p.Leu151Asnfs)deletionPathogenicrs180177221GRCh38Chr 2, 240871372: 240871379
139AGXTNM_000030.2(AGXT): c.445delG (p.Val149Cysfs)deletionPathogenicrs180177220GRCh38Chr 2, 240871370: 240871370
140AGXTNM_000030.2(AGXT): c.460delA (p.Thr154Profs)deletionPathogenicrs180177224GRCh38Chr 2, 240871385: 240871385
141AGXTNM_000030.2(AGXT): c.519_520delCCinsGA (p.Cys173_His174delinsTrpAsn)indelPathogenicrs180177233GRCh38Chr 2, 240871444: 240871445
142AGXTNM_000030.2(AGXT): c.557_562delCATCCCinsATCGGT (p.Ala186_Ser187delinsAspArg)indelPathogenicrs180177237GRCh38Chr 2, 240873011: 240873016
143AGXTNM_000030.2(AGXT): c.570delG (p.Thr191Profs)deletionPathogenicrs180177240GRCh38Chr 2, 240873024: 240873024
144AGXTNM_000030.2(AGXT): c.577delC (p.Leu193Phefs)deletionPathogenicrs180177241GRCh37Chr 2, 241812448: 241812448
145AGXTNM_000030.2(AGXT): c.577dupC (p.Leu193Profs)duplicationPathogenicrs180177242GRCh38Chr 2, 240873031: 240873031
146AGXTNM_000030.2(AGXT): c.642_645delTCCA (p.Pro215Glyfs)deletionPathogenicrs180177251GRCh38Chr 2, 240874024: 240874027
147AGXTNM_000030.2(AGXT): c.661_663delTCC (p.Ser221del)deletionPathogenicrs796052071GRCh37Chr 2, 241813460: 241813462
148AGXTNM_000030.2(AGXT): c.679_680+2delAAGTdeletionPathogenicrs180177255GRCh38Chr 2, 240874061: 240874064
149AGXTNG_008005.1: g.10798_11529del732insTGAGAindelPathogenicGRCh38Chr 2, 240874542: 240875273
150AGXTNM_000030.2(AGXT): c.725dupT (p.Asp243Glyfs)duplicationPathogenicrs180177257GRCh37Chr 2, 241814570: 241814570
151AGXTNM_000030.2(AGXT): c.744delC (p.Asn249Thrfs)deletionPathogenicrs180177261GRCh37Chr 2, 241814589: 241814589
152AGXTNM_000030.2(AGXT): c.751_752delTGinsAA (p.Trp251Lys)indelPathogenicrs796052072GRCh37Chr 2, 241814596: 241814597
153AGXTNM_000030.2(AGXT): c.798_802delCATCAinsACAATCTCAG (p.Ile267Glnfs)indelPathogenicrs180177270GRCh38Chr 2, 240875956: 240875960
154AGXTNM_000030.2(AGXT): c.823_824dupAG (p.Ser275Argfs)duplicationPathogenicrs180177273GRCh37Chr 2, 241815398: 241815399
155AGXTNM_000030.2(AGXT): c.829_830insA (p.Ala277Aspfs)insertionPathogenicrs180177275GRCh37Chr 2, 241815404: 241815405
156AGXTNM_000030.2(AGXT): c.834delC (p.Ile279Leufs)deletionPathogenicrs180177276GRCh37Chr 2, 241815409: 241815409
157AGXTNG_008005.1: g.12906_14027del1122deletionPathogenicGRCh38Chr 2, 240876650: 240877771
158AGXTNM_000030.2(AGXT): c.860_861delGCinsCG (p.Ser287Thr)indelPathogenicrs180177289GRCh37Chr 2, 241816967: 241816968
159AGXTNM_000030.2(AGXT): c.886_888delGCG (p.Ala296del)deletionPathogenicrs180177291GRCh37Chr 2, 241816993: 241816995
160AGXTNM_000030.2(AGXT): c.919delC (p.Leu307Cysfs)deletionPathogenicrs180177295GRCh37Chr 2, 241817026: 241817026
161AGXTNM_000030.2(AGXT): c.959_960delCA (p.Thr320Serfs)deletionPathogenicrs796052074GRCh37Chr 2, 241817455: 241817456
162AGXTNM_000030.2(AGXT): c.971_972delTG (p.Val324Glyfs)deletionPathogenicrs180177300GRCh37Chr 2, 241817467: 241817468
163AGXTNM_000030.2(AGXT): c.983_988delCTGGCT (p.Ala328_Tyr330delinsAsp)deletionPathogenicrs180177302GRCh38Chr 2, 240878062: 240878067
164AGXTNM_000030.2(AGXT): c.1110_1111delCG (p.Asn372Cysfs)deletionPathogenicrs796052075GRCh38Chr 2, 240878752: 240878753
165AGXTNM_000030.2(AGXT): c.1125_1126delCG (p.Val376Aspfs)deletionPathogenicrs180177164GRCh38Chr 2, 240878767: 240878768
166AGXTNG_008005.1: g.(14407_14970)_(15375_?)deldeletionPathogenicGRCh37Chr 2, 241817568: 241818536
167AGXTNG_008005.1: g.(?_5001)_(9305_10233)deldeletionPathogenicGRCh37Chr 2, 241808162: 241813394
168AGXTNG_008005.1: g.(?_5001)_(11460_12190)deldeletionPathogenicGRCh37Chr 2, 241808162: 241815351
169AGXTNG_008005.1: g.(7706_9235)_(15375_?)deldeletionPathogenicGRCh37Chr 2, 241810867: 241818536
170more than 10NC_000002.12: g.(?_239048168)_(240879119_?)deldeletionPathogenicGRCh38Chr 2, 239048168: 240879119
171AGXTAGXT, 1-BP INS, 33CinsertionPathogenic
172AGXTNM_000030.2(AGXT): c.508G> A (p.Gly170Arg)single nucleotide variantPathogenicrs121908529GRCh37Chr 2, 241810850: 241810850
173AGXTNM_000030.2(AGXT): c.613T> C (p.Ser205Pro)single nucleotide variantPathogenicrs121908520GRCh37Chr 2, 241813412: 241813412
174AGXTNM_000030.2(AGXT): c.198C> G (p.Tyr66Ter)single nucleotide variantPathogenicrs121908521GRCh37Chr 2, 241808619: 241808619
175AGXTNM_000030.2(AGXT): c.245G> A (p.Gly82Glu)single nucleotide variantPathogenicrs121908522GRCh37Chr 2, 241808666: 241808666
176AGXTNM_000030.2(AGXT): c.121G> A (p.Gly41Arg)single nucleotide variantPathogenicrs121908523GRCh37Chr 2, 241808403: 241808403
177AGXTNM_000030.2(AGXT): c.454T> A (p.Phe152Ile)single nucleotide variantPathogenicrs121908524GRCh37Chr 2, 241810796: 241810796
178AGXTNM_000030.2(AGXT): c.731T> C (p.Ile244Thr)single nucleotide variantPathogenicrs121908525GRCh37Chr 2, 241814576: 241814576
179AGXTNM_000030.2(AGXT): c.697C> T (p.Arg233Cys)single nucleotide variantPathogenicrs121908526GRCh37Chr 2, 241814542: 241814542
180AGXTNM_000030.2(AGXT): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121908527GRCh37Chr 2, 241814543: 241814543
181AGXTNM_000030.2(AGXT): c.738G> A (p.Trp246Ter)single nucleotide variantPathogenicrs121908528GRCh37Chr 2, 241814583: 241814583
182AGXTNM_000030.2(AGXT): c.466G> A (p.Gly156Arg)single nucleotide variantPathogenicrs121908530GRCh37Chr 2, 241810808: 241810808

Expression for genes affiliated with Hyperoxaluria, Primary, Type 1

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Search GEO for disease gene expression data for Hyperoxaluria, Primary, Type 1.

Pathways for genes affiliated with Hyperoxaluria, Primary, Type 1

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GO Terms for genes affiliated with Hyperoxaluria, Primary, Type 1

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Sources for Hyperoxaluria, Primary, Type 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet