HP1
MCID: HYP617
MIFTS: 39

Hyperoxaluria, Primary, Type 1 (HP1) malady

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

Aliases & Classifications for Hyperoxaluria, Primary, Type 1

About this section
Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hyperoxaluria, Primary, Type 1:

Name: Hyperoxaluria, Primary, Type 1 52 24 12
Glycolic Aciduria 48 24 54 70
Alanine-Glyoxylate Aminotransferase Deficiency 48 24 70
Primary Hyperoxaluria Type 1 23 48 54
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency 48 70
Serine Pyruvate Aminotransferase Deficiency 48 70
Hyperoxaluria, Primary, Type I 52 50
Primary Hyperoxaluria Type I 70 27
Hepatic Agt Deficiency 48 70
 
Hp1 48 70
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 24
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency 54
Primary Hyperoxaluria, Type I 68
Hyperoxaluria Primary Type I 70
Hyperoxaluria Primary 1 70
Oxalosis I 70
Oxalosis 1 48
Ph1 70

Characteristics:

Orphanet epidemiological data:

54
glycolic aciduria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages; Age of death: any age

HPO:

64
hyperoxaluria, primary, type 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 259900
Orphanet54 ORPHA93598
MESH via Orphanet40 C536414
UMLS via Orphanet69 C0268164
ICD10 via Orphanet31 E74.8
MedGen37 C0268164
MeSH39 D006960

Summaries for Hyperoxaluria, Primary, Type 1

About this section
NIH Rare Diseases:48 Primary hyperoxaluria type 1 (ph1) is a rare disorder that mainly affects the kidneys. it results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. in people with ph1, the accumulated oxalate is deposited in the kidneys and urinary tract. it combines with calcium, forming the main component of kidney and bladder stones (calcium oxalate). signs and symptoms of ph1 vary in severity and may begin any time from infancy to early adulthood. symptoms may include recurrent kidney stones; blood in the urine; and urinary tract infections. left untreated, ph1 can result in end-stage renal disease, which is life-threatening. ph1 is due to mutations in a gene called agxt. inheritance is autosomal recessive. early treatment is important for maintaining kidney function. each person's treatment plan depends on his/her symptoms and the severity of the condition. management may involve high fluid intake; vitamin b6 (pyridoxine); calcium-oxalate crystallization inhibitors (citrate, pyrophosphate, and magnesium); kidney stone therapies; and dialysis in some cases. liver and/or kidney transplantation may be needed. last updated: 8/12/2016

MalaCards based summary: Hyperoxaluria, Primary, Type 1, also known as glycolic aciduria, is related to primary hyperoxaluria and hepatitis, and has symptoms including bone pain, bone pain and renal insufficiency. An important gene associated with Hyperoxaluria, Primary, Type 1 is AGXT (Alanine-Glyoxylate Aminotransferase). Affiliated tissues include kidney, liver and bone.

OMIM:52 Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in... (259900) more...

UniProtKB/Swiss-Prot:70 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 for NBK1283

Related Diseases for Hyperoxaluria, Primary, Type 1

About this section

Diseases in the Primary Hyperoxaluria family:

hyperoxaluria, primary, type 1 Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

Diseases related to Hyperoxaluria, Primary, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1primary hyperoxaluria10.9
2hepatitis10.2
3nephrocalcinosis10.1
4kidney disease9.9
5peritonitis9.9
6hiv-19.8
7leukemia9.8
8end stage renal failure9.8
9brachydactyly9.8
10autosomal recessive disease9.8
11thrombosis9.8
12hypothyroidism9.8
13retinitis9.8
14autosomal dominant polycystic kidney disease9.8
15polycystic kidney disease9.8

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



Diseases related to hyperoxaluria, primary, type 1

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type 1

About this section

Symptoms by clinical synopsis from OMIM:

259900

Clinical features from OMIM:

259900

Human phenotypes related to Hyperoxaluria, Primary, Type 1:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency64 HP:0000083
2 nephrocalcinosis64 HP:0000121
3 retinopathy64 HP:0000488
4 optic atrophy64 HP:0000648
5 hematuria64 HP:0000790
6 cutis marmorata64 HP:0000965
7 acrocyanosis64 HP:0001063
8 optic neuropathy64 HP:0001138
9 atrioventricular block64 HP:0001678
10 metabolic acidosis64 HP:0001942
11 bone pain64 HP:0002653
12 pathologic fracture64 HP:0002756
13 hyperoxaluria64 HP:0003159
14 intermittent claudication64 HP:0004417
15 peripheral artery occlusive disease64 HP:0005315
16 calcium oxalate nephrolithiasis64 HP:0008672
17 peripheral neuropathy64 HP:0009830
18 increased bone mineral density64 HP:0011001
19 retinal crystals64 HP:0030507
20 gangrene64 HP:0100758

UMLS symptoms related to Hyperoxaluria, Primary, Type 1:


bone pain

Drugs & Therapeutics for Hyperoxaluria, Primary, Type 1

About this section

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

(show top 50)    (show all 61)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bone Density Conservation AgentsPhase 2, Phase 33376
2Protective AgentsPhase 37443
3Calcium, DietaryPhase 2, Phase 3, Phase 15713
4
Vorinostatapproved, investigationalPhase 2247149647-78-95311
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
5
PravastatinapprovedPhase 215081093-37-054687
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 (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
6
Zoledronic acidapprovedPhase 2294118072-93-868740
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
(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
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
Anhydrous Zoledronic Acid
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
Zol
Zoledronate
Zoledronic Acid Anhydrous
Zoledronic Acid, Anhydrous
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)
7
Betaineapproved, nutraceuticalPhase 234107-43-7247
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
2-trimethylammonioacetate
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
TMG
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
8
Pyridoxineapproved, nutraceutical, vet_approvedPhase 218865-23-61054
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 (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
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
9
Pyridoxalapproved, nutraceuticalPhase 218766-72-81050
Synonyms:
2-methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methyl-4-pyridinecarboxaldehyde
 
3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Piridoxal
Pyridoxal
Pyridoxaldehyde
10
Folic Acidapproved, nutraceutical, vet_approvedPhase 2439259-30-36037
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 (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
11AntimetabolitesPhase 212054
12Gastrointestinal AgentsPhase 28402
13Hypolipidemic AgentsPhase 22785
14Lipid Regulating AgentsPhase 22766
15Histone Deacetylase InhibitorsPhase 2569
16VitaminsPhase 25282
17MicronutrientsPhase 26001
18Pharmaceutical SolutionsPhase 28192
19Trace ElementsPhase 26001
20Vitamin B ComplexPhase 24337
21Vitamin B 6Phase 2188
22Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21998
23Anticholesteremic AgentsPhase 22025
24DiphosphonatesPhase 2450
25FolateNutraceuticalPhase 24392
26AcidophilusNutraceuticalPhase 1, Phase 2558
27
Pyridoxal PhosphatenutraceuticalPhase 21554-47-71051
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
3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate
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 anhydrous
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
28Vitamin B9NutraceuticalPhase 24392
29Brewer's YeastNutraceuticalPhase 1, Phase 237
30leucineNutraceuticalPhase 1, Phase 2114
31Liver ExtractsPhase 14067
32
Ironapproved11657439-89-623925
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
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
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
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
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
33
Esomeprazoleapproved, investigational333161796-78-7, 119141-88-74594, 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 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 S-form
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
34
Metronidazoleapproved486443-48-14173
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
Metrodzhil
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole [USAN:INN:BAN:JAN]
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
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
35
Tetracyclineapproved, vet_approved10560-54-85353990
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
Tetra-Co
Tetrabon
Tetrachel
Tetraciclina
Tetraciclina [INN-Spanish]
Tetracycl
Tetracyclin
Tetracycline & VRC3375
Tetracycline (JAN/USP/INN)
Tetracycline (internal use)
Tetracycline Free Base
Tetracycline HCl
Tetracycline I
Tetracycline II
Tetracycline Monohydrochloride
Tetracycline [USAN:INN:BAN:JAN]
Tetracyclinum
Tetracyclinum [INN-Latin]
Tetracyn
Tetradecin
Tetrafil
Tetraverine
Tetrazyklin
Topicycline
Tsiklomistsin
Tsiklomitsin
Tétracycline
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
Clarithromycinapproved28981103-11-984029
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 & 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
37
Amoxicillinapproved, vet_approved46526787-78-033613, 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-(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 (INN)
Amoxicillin (TN)
Amoxicillin (anhydrous)
Amoxicillin (inn)
Amoxicillin Trihydrate
Amoxicillin and clavulanate potassium
Amoxicillin anhydrous
Amoxicillin pediatric
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
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 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
amoxicillanyl
amoxicillin
p-Hydroxyampicillin
α-amino-p-hydroxybenzylpenicillin
38
Vitamin Eapproved, nutraceutical, vet_approved41459-02-914985
Synonyms:
(+)-a-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)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
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
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
39Hematinics1684
40ferric gluconate18
41
Bismuth1407440-69-916682734, 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
42Antiprotozoal Agents2051
43Anti-Ulcer Agents1842
44Cytochrome P-450 CYP3A Inhibitors1715
45
Proton pump inhibitors1123
Synonyms:
 
PPIs
46Cytochrome P-450 Enzyme Inhibitors3917
47Anti-Bacterial Agents11226
48Bismuth tripotassium dicitrate71
49Antiparasitic Agents2199
50Anti-Infective Agents22062

Interventional clinical trials:

(show all 34)
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
4A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary HyperoxaluriaNot yet recruitingNCT03116685Phase 3
5Renal Protective Effect of ACEI and ARB in Primary HyperoxaluriaWithdrawnNCT00280215Phase 3
6Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphateCompletedNCT01281878Phase 2
7Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary HyperoxaluriaCompletedNCT00283387Phase 2
8Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary HyperoxaluriaCompletedNCT02012985Phase 1, Phase 2
9Vorinostat in Treating Patients With Metastatic or Unresectable MelanomaCompletedNCT00121225Phase 2
10Use of Oral Probiotics to Reduce Urinary Oxalate ExcretionCompletedNCT00587041Phase 1, Phase 2
11Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1RecruitingNCT02706886Phase 1, Phase 2
12Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on DialysisRecruitingNCT02000219Phase 2
13Hydroxyproline Influence on Oxalate MetabolismActive, not recruitingNCT02038543Phase 1, Phase 2
14Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With ProgeriaEnrolling by invitationNCT00916747Phase 2
15A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or HyperoxaluriaWithdrawnNCT00490113Phase 2
16Primary Hyperoxaluria Mutation GenotypingCompletedNCT00589225Phase 1
17A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1)Active, not recruitingNCT02795325Phase 1
18Enteric Oxalate Absorption Study in Unclassified HyperoxaluriaActive, not recruitingNCT00588120Phase 1
19The Type of Hepatoglobin in IUGRUnknown statusNCT02127385
20Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin GenotypeUnknown statusNCT02312414
21IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIACompletedNCT02830009
22Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non ExacerbatorsCompletedNCT01745419
23Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 DiabetesCompletedNCT01098994
24Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori EradicationCompletedNCT01306786
25Primary Hyperoxaluria Mutation Genotyping/PhenotypingRecruitingNCT02340689
26Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
27Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
28Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
29Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
30Haptoglobin and Diabetes Complications in PregnancyRecruitingNCT01758016
31Proteomics of Primary Hyperoxaluria Type 1Active, not recruitingNCT03067142
32Associations Between Diabetes Care and Haptoglobin Genotype On outComesActive, not recruitingNCT00872456
33Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric PatientsNot yet recruitingNCT02794649
34International 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 Primary Hyperoxaluria, Type I27
2 Hyperoxaluria, Primary, Type 124 AGXT

Anatomical Context for Hyperoxaluria, Primary, Type 1

About this section

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

36
Kidney, Liver, Bone

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:

70 (show all 40)
id Symbol AA change Variation ID SNP ID
1AGXTp.Gly41ArgVAR_000588rs121908523
2AGXTp.Phe152IleVAR_000589rs121908524
3AGXTp.Gly170ArgVAR_000590rs121908529
4AGXTp.Ser187PheVAR_000591rs180177238
5AGXTp.Ser205ProVAR_000592rs121908520
6AGXTp.Gly82GluVAR_008878rs121908522
7AGXTp.Arg233CysVAR_008879rs121908526
8AGXTp.Arg233HisVAR_008880rs121908527
9AGXTp.Ile244ThrVAR_008881rs121908525
10AGXTp.Gly41ValVAR_010969rs180177168
11AGXTp.Gly116ArgVAR_010971rs180177207
12AGXTp.Gly156ArgVAR_010972rs121908530
13AGXTp.Asp183AsnVAR_010973rs180177236
14AGXTp.Gly82ArgVAR_060548rs180177185
15AGXTp.Trp108ArgVAR_060549rs180177197
16AGXTp.Ala112AspVAR_060550rs796052061
17AGXTp.Leu153ValVAR_060552rs180177223
18AGXTp.Ser158LeuVAR_060553rs180177225
19AGXTp.Gly161ArgVAR_060554rs180177227
20AGXTp.Cys173TyrVAR_060555rs180177231
21AGXTp.Gly190ArgVAR_060556rs180177239
22AGXTp.Met195ArgVAR_060557rs180177244
23AGXTp.Asp201GluVAR_060558rs180177246
24AGXTp.Ser218LeuVAR_060559rs180177253
25AGXTp.Arg233LeuVAR_060560rs121908527
26AGXTp.Asp243HisVAR_060561rs180177258
27AGXTp.Cys253ArgVAR_060562rs180177264
28AGXTp.Ile279MetVAR_060563rs180177277
29AGXTp.Ser287ThrVAR_060566rs180177289
30AGXTp.Arg289CysVAR_060567rs180177290
31AGXTp.Leu298ProVAR_060569rs180177293
32AGXTp.Val336AspVAR_060571rs180177155
33AGXTp.Gly350AspVAR_060572rs180177156
34AGXTp.Arg36CysVAR_074582rs180177157
35AGXTp.Gly41GluVAR_074583rs180177168
36AGXTp.Gly47ArgVAR_074584rs180177173
37AGXTp.Leu150ProVAR_074585rs180177222
38AGXTp.Gly161CysVAR_074586rs180177227
39AGXTp.Gly161SerVAR_074587rs180177227
40AGXTp.Leu166ProVAR_074588rs180177230

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

5 (show all 179)
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)SNVPathogenicrs180177238GRCh37Chr 2, 241812431: 241812431
3AGXTNM_ 000030.2(AGXT): c.481G> T (p.Gly161Cys)SNVPathogenic/ Likely pathogenicrs180177227GRCh37Chr 2, 241810823: 241810823
4AGXTNM_ 000030.2(AGXT): c.777-1G> CSNVPathogenic/ Likely pathogenicrs180177267GRCh37Chr 2, 241815351: 241815351
5AGXTNM_ 000030.2(AGXT): c.33delC (p.Lys12Argfs)deletionPathogenic/ Likely pathogenicrs180177205GRCh37Chr 2, 241808315: 241808315
6AGXTNM_ 000030.2(AGXT): c.302T> C (p.Leu101Pro)SNVPathogenic/ Likely pathogenicrs180177195GRCh37Chr 2, 241808723: 241808723
7AGXTNM_ 000030.2(AGXT): c.322T> C (p.Trp108Arg)SNVPathogenic/ Likely pathogenicrs180177197GRCh37Chr 2, 241808743: 241808743
8AGXTNM_ 000030.2(AGXT): c.752G> A (p.Trp251Ter)SNVLikely pathogenicrs786204545GRCh38Chr 2, 240875180: 240875180
9AGXTNM_ 000030.2(AGXT): c.106C> T (p.Arg36Cys)SNVPathogenic/ Likely pathogenicrs180177157GRCh37Chr 2, 241808388: 241808388
10AGXTNM_ 000030.2(AGXT): c.653C> T (p.Ser218Leu)SNVPathogenic/ Likely pathogenicrs180177253GRCh37Chr 2, 241813452: 241813452
11AGXTNM_ 000030.2(AGXT): c.122G> T (p.Gly41Val)SNVPathogenic/ Likely pathogenicrs180177168GRCh38Chr 2, 240868987: 240868987
12AGXTNM_ 000030.2(AGXT): c.1049G> A (p.Gly350Asp)SNVPathogenic/ Likely pathogenicrs180177156GRCh37Chr 2, 241817545: 241817545
13AGXTNM_ 000030.2(AGXT): c.346G> A (p.Gly116Arg)SNVPathogenic/ Likely pathogenicrs180177207GRCh38Chr 2, 240869350: 240869350
14AGXTNM_ 000030.2(AGXT): c.737G> A (p.Trp246Ter)SNVPathogenic/ Likely pathogenicrs180177259GRCh37Chr 2, 241814582: 241814582
15AGXTNM_ 000030.2(AGXT): c.568G> A (p.Gly190Arg)SNVPathogenic/ Likely pathogenicrs180177239GRCh37Chr 2, 241812439: 241812439
16AGXTNM_ 000030.2(AGXT): c.976delG (p.Val326Tyrfs)deletionPathogenic/ Likely pathogenicrs180177301GRCh37Chr 2, 241817472: 241817472
17AGXTNM_ 000030.2(AGXT): c.2T> C (p.Met1Thr)SNVPathogenicrs138584408GRCh37Chr 2, 241808284: 241808284
18AGXTNM_ 000030.2(AGXT): c.3G> T (p.Met1Ile)SNVPathogenicrs180177213GRCh38Chr 2, 240868868: 240868868
19AGXTNM_ 000030.2(AGXT): c.22G> C (p.Val8Leu)SNVPathogenicrs796052057GRCh38Chr 2, 240868887: 240868887
20AGXTNM_ 000030.2(AGXT): c.28C> T (p.Pro10Ser)SNVPathogenicrs180177191GRCh37Chr 2, 241808310: 241808310
21AGXTNM_ 000030.2(AGXT): c.32C> G (p.Pro11Arg)SNVPathogenicrs34116584GRCh38Chr 2, 240868897: 240868897
22AGXTNM_ 000030.2(AGXT): c.74T> G (p.Leu25Arg)SNVPathogenicrs180177262GRCh37Chr 2, 241808356: 241808356
23AGXTNM_ 000030.2(AGXT): c.77T> C (p.Leu26Pro)SNVPathogenicrs180177268GRCh37Chr 2, 241808359: 241808359
24AGXTNM_ 000030.2(AGXT): c.107G> A (p.Arg36His)SNVPathogenicrs180177162GRCh37Chr 2, 241808389: 241808389
25AGXTNM_ 000030.2(AGXT): c.122G> A (p.Gly41Glu)SNVPathogenicrs180177168GRCh38Chr 2, 240868987: 240868987
26AGXTNM_ 000030.2(AGXT): c.125G> A (p.Gly42Glu)SNVPathogenicrs180177170GRCh37Chr 2, 241808407: 241808407
27AGXTNM_ 000030.2(AGXT): c.130C> T (p.Gln44Ter)SNVPathogenicrs180177172GRCh37Chr 2, 241808412: 241808412
28AGXTNM_ 000030.2(AGXT): c.139G> A (p.Gly47Arg)SNVPathogenicrs180177173GRCh37Chr 2, 241808421: 241808421
29AGXTNM_ 000030.2(AGXT): c.167T> A (p.Ile56Asn)SNVPathogenicrs180177180GRCh37Chr 2, 241808588: 241808588
30AGXTNM_ 000030.2(AGXT): c.175G> A (p.Glu59Lys)SNVPathogenicrs767586362GRCh38Chr 2, 240869179: 240869179
31AGXTNM_ 000030.2(AGXT): c.187G> C (p.Gly63Arg)SNVPathogenicrs180177181GRCh38Chr 2, 240869191: 240869191
32AGXTNM_ 000030.2(AGXT): c.205C> T (p.Gln69Ter)SNVPathogenicrs180177182GRCh37Chr 2, 241808626: 241808626
33AGXTNM_ 000030.2(AGXT): c.209C> A (p.Thr70Asn)SNVPathogenicrs796052058GRCh37Chr 2, 241808630: 241808630
34AGXTNM_ 000030.2(AGXT): c.242C> A (p.Ser81Ter)SNVPathogenicrs180177184GRCh37Chr 2, 241808663: 241808663
35AGXTNM_ 000030.2(AGXT): c.242C> T (p.Ser81Leu)SNVPathogenicrs180177184GRCh38Chr 2, 240869246: 240869246
36AGXTNM_ 000030.2(AGXT): c.244G> C (p.Gly82Arg)SNVPathogenicrs180177185GRCh38Chr 2, 240869248: 240869248
37AGXTNM_ 000030.2(AGXT): c.248A> G (p.His83Arg)SNVPathogenicrs180177186GRCh38Chr 2, 240869252: 240869252
38AGXTNM_ 000030.2(AGXT): c.254C> A (p.Ala85Asp)SNVPathogenicrs796052059GRCh38Chr 2, 240869258: 240869258
39AGXTNM_ 000030.2(AGXT): c.283G> A (p.Glu95Lys)SNVPathogenicrs180177189GRCh37Chr 2, 241808704: 241808704
40AGXTNM_ 000030.2(AGXT): c.323G> A (p.Trp108Ter)SNVPathogenicrs180177198GRCh37Chr 2, 241808744: 241808744
41AGXTNM_ 000030.2(AGXT): c.324G> T (p.Trp108Cys)SNVPathogenicrs796052060GRCh38Chr 2, 240869328: 240869328
42AGXTNM_ 000030.2(AGXT): c.326G> T (p.Gly109Val)SNVPathogenicrs180177199GRCh37Chr 2, 241808747: 241808747
43AGXTNM_ 000030.2(AGXT): c.331C> T (p.Arg111Ter)SNVPathogenicrs180177202GRCh37Chr 2, 241808752: 241808752
44AGXTNM_ 000030.2(AGXT): c.332G> A (p.Arg111Gln)SNVPathogenicrs180177203GRCh38Chr 2, 240869336: 240869336
45AGXTNM_ 000030.2(AGXT): c.335C> A (p.Ala112Asp)SNVPathogenicrs796052061GRCh38Chr 2, 240869339: 240869339
46AGXTNM_ 000030.2(AGXT): c.349G> T (p.Glu117Ter)SNVPathogenicrs180177208GRCh38Chr 2, 240869353: 240869353
47AGXTNM_ 000030.2(AGXT): c.353G> A (p.Arg118His)SNVPathogenicrs138025751GRCh37Chr 2, 241808774: 241808774
48AGXTNM_ 000030.2(AGXT): c.364C> T (p.Arg122Ter)SNVPathogenicrs180177210GRCh37Chr 2, 241810066: 241810066
49AGXTNM_ 000030.2(AGXT): c.371A> C (p.His124Pro)SNVPathogenicrs180177211GRCh37Chr 2, 241810073: 241810073
50AGXTNM_ 000030.2(AGXT): c.409C> T (p.Gln137Ter)SNVPathogenicrs180177214GRCh38Chr 2, 240870694: 240870694
51AGXTNM_ 000030.2(AGXT): c.423G> T (p.Glu141Asp)SNVPathogenicrs180177217GRCh38Chr 2, 240870708: 240870708
52AGXTNM_ 000030.2(AGXT): c.449T> C (p.Leu150Pro)SNVPathogenicrs180177222GRCh38Chr 2, 240871374: 240871374
53AGXTNM_ 000030.2(AGXT): c.457T> G (p.Leu153Val)SNVPathogenicrs180177223GRCh38Chr 2, 240871382: 240871382
54AGXTNM_ 000030.2(AGXT): c.473C> T (p.Ser158Leu)SNVPathogenic/ Likely pathogenicrs180177225GRCh38Chr 2, 240871398: 240871398
55AGXTNM_ 000030.2(AGXT): c.473C> A (p.Ser158Ter)SNVPathogenicrs180177225GRCh38Chr 2, 240871398: 240871398
56AGXTNM_ 000030.2(AGXT): c.481G> A (p.Gly161Ser)SNVPathogenicrs180177227GRCh38Chr 2, 240871406: 240871406
57AGXTNM_ 000030.2(AGXT): c.481G> C (p.Gly161Arg)SNVPathogenicrs180177227GRCh37Chr 2, 241810823: 241810823
58AGXTNM_ 000030.2(AGXT): c.497T> C (p.Leu166Pro)SNVPathogenicrs180177230GRCh38Chr 2, 240871422: 240871422
59AGXTNM_ 000030.2(AGXT): c.518G> A (p.Cys173Tyr)SNVPathogenicrs180177231GRCh37Chr 2, 241810860: 241810860
60AGXTNM_ 000030.2(AGXT): c.519C> A (p.Cys173Ter)SNVPathogenicrs180177232GRCh38Chr 2, 240871444: 240871444
61AGXTNM_ 000030.2(AGXT): c.533G> A (p.Cys178Tyr)SNVPathogenicrs180177235GRCh38Chr 2, 240872987: 240872987
62AGXTNM_ 000030.2(AGXT): c.547G> A (p.Asp183Asn)SNVPathogenicrs180177236GRCh38Chr 2, 240873001: 240873001
63AGXTNM_ 000030.2(AGXT): c.583A> C (p.Met195Leu)SNVPathogenicrs180177243GRCh38Chr 2, 240873037: 240873037
64AGXTNM_ 000030.2(AGXT): c.584T> G (p.Met195Arg)SNVPathogenicrs180177244GRCh37Chr 2, 241812455: 241812455
65AGXTNM_ 000030.2(AGXT): c.595G> A (p.Gly199Ser)SNVPathogenicrs796052062GRCh37Chr 2, 241812466: 241812466
66AGXTNM_ 000030.2(AGXT): c.603C> A (p.Asp201Glu)SNVPathogenicrs180177246GRCh38Chr 2, 240873985: 240873985
67AGXTNM_ 000030.2(AGXT): c.605T> A (p.Ile202Asn)SNVPathogenicrs536352238GRCh38Chr 2, 240873987: 240873987
68AGXTNM_ 000030.2(AGXT): c.612C> A (p.Tyr204Ter)SNVPathogenicrs180177247GRCh38Chr 2, 240873994: 240873994
69AGXTNM_ 000030.2(AGXT): c.614C> T (p.Ser205Leu)SNVPathogenicrs180177248GRCh37Chr 2, 241813413: 241813413
70AGXTNM_ 000030.2(AGXT): c.614C> A (p.Ser205Ter)SNVPathogenicrs180177248GRCh38Chr 2, 240873996: 240873996
71AGXTNM_ 000030.2(AGXT): c.628G> C (p.Ala210Pro)SNVPathogenicrs180177250GRCh38Chr 2, 240874010: 240874010
72AGXTNM_ 000030.2(AGXT): c.646G> A (p.Gly216Arg)SNVPathogenicrs180177252GRCh38Chr 2, 240874028: 240874028
73AGXTNM_ 000030.2(AGXT): c.661T> C (p.Ser221Pro)SNVPathogenicrs180177254GRCh37Chr 2, 241813460: 241813460
74AGXTNM_ 000030.2(AGXT): c.698G> T (p.Arg233Leu)SNVPathogenicrs121908527GRCh38Chr 2, 240875126: 240875126
75AGXTNM_ 000030.2(AGXT): c.727G> C (p.Asp243His)SNVPathogenicrs180177258GRCh38Chr 2, 240875155: 240875155
76AGXTNM_ 000030.2(AGXT): c.753G> A (p.Trp251Ter)SNVPathogenicrs180177263GRCh38Chr 2, 240875181: 240875181
77AGXTNM_ 000030.2(AGXT): c.757T> C (p.Cys253Arg)SNVPathogenicrs180177264GRCh38Chr 2, 240875185: 240875185
78AGXTNM_ 000030.2(AGXT): c.783T> A (p.His261Gln)SNVPathogenicrs180177269GRCh37Chr 2, 241815358: 241815358
79AGXTNM_ 000030.2(AGXT): c.806T> C (p.Leu269Pro)SNVPathogenicrs180177271GRCh38Chr 2, 240875964: 240875964
80AGXTNM_ 000030.2(AGXT): c.822G> C (p.Glu274Asp)SNVPathogenicrs146525143GRCh38Chr 2, 240875980: 240875980
81AGXTNM_ 000030.2(AGXT): c.823A> C (p.Ser275Arg)SNVPathogenicrs180177272GRCh38Chr 2, 240875981: 240875981
82AGXTNM_ 000030.2(AGXT): c.844C> T (p.Gln282Ter)SNVPathogenicrs180177279GRCh38Chr 2, 240876002: 240876002
83AGXTNM_ 000030.2(AGXT): c.846G> C (p.Gln282His)SNVPathogenicrs180177284GRCh38Chr 2, 240876004: 240876004
84AGXTNM_ 000030.2(AGXT): c.851T> C (p.Leu284Pro)SNVPathogenicrs180177287GRCh38Chr 2, 240877541: 240877541
85AGXTNM_ 000030.2(AGXT): c.853G> T (p.Glu285Ter)SNVPathogenicrs180177288GRCh37Chr 2, 241816960: 241816960
86AGXTNM_ 000030.2(AGXT): c.891T> G (p.Tyr297Ter)SNVPathogenic/ Likely pathogenicrs180177292GRCh37Chr 2, 241816998: 241816998
87AGXTNM_ 000030.2(AGXT): c.893T> C (p.Leu298Pro)SNVPathogenicrs180177293GRCh37Chr 2, 241817000: 241817000
88AGXTNM_ 000030.2(AGXT): c.907C> T (p.Gln303Ter)SNVPathogenic/ Likely pathogenicrs180177294GRCh38Chr 2, 240877597: 240877597
89AGXTNM_ 000030.2(AGXT): c.922C> T (p.Gln308Ter)SNVPathogenicrs180177296GRCh37Chr 2, 241817029: 241817029
90AGXTNM_ 000030.2(AGXT): c.947T> C (p.Leu316Pro)SNVPathogenicrs796052063GRCh37Chr 2, 241817443: 241817443
91AGXTNM_ 000030.2(AGXT): c.956C> T (p.Pro319Leu)SNVPathogenicrs180177299GRCh38Chr 2, 240878035: 240878035
92AGXTNM_ 000030.2(AGXT): c.996G> A (p.Trp332Ter)SNVPathogenic/ Likely pathogenicrs796052064GRCh38Chr 2, 240878075: 240878075
93AGXTNM_ 000030.2(AGXT): c.997A> T (p.Arg333Ter)SNVPathogenicrs180177303GRCh37Chr 2, 241817493: 241817493
94AGXTNM_ 000030.2(AGXT): c.1007T> A (p.Val336Asp)SNVPathogenicrs180177155GRCh38Chr 2, 240878086: 240878086
95AGXTNM_ 000030.2(AGXT): c.1014C> G (p.Tyr338Ter)SNVPathogenicrs756437332GRCh37Chr 2, 241817510: 241817510
96AGXTNM_ 000030.2(AGXT): c.1045G> A (p.Gly349Ser)SNVPathogenicrs796052065GRCh38Chr 2, 240878124: 240878124
97AGXTNM_ 000030.2(AGXT): c.1076T> C (p.Leu359Pro)SNVPathogenicrs180177160GRCh37Chr 2, 241818135: 241818135
98AGXTNM_ 000030.2(AGXT): c.1079G> A (p.Arg360Gln)SNVPathogenicrs180177161GRCh38Chr 2, 240878721: 240878721
99AGXTNM_ 000030.2(AGXT): c.1102G> A (p.Ala368Thr)SNVPathogenicrs180177163GRCh38Chr 2, 240878744: 240878744
100AGXTNM_ 000030.2(AGXT): c.1148C> A (p.Ala383Asp)SNVPathogenicrs796052066GRCh37Chr 2, 241818207: 241818207
101AGXTNM_ 000030.2(AGXT): c.1151T> C (p.Leu384Pro)SNVPathogenicrs180177165GRCh38Chr 2, 240878793: 240878793
102AGXTNM_ 000030.2(AGXT): c.358+1G> TSNVPathogenicrs796052067GRCh37Chr 2, 241808780: 241808780
103AGXTNM_ 000030.2(AGXT): c.358+2T> GSNVPathogenicrs113681235GRCh38Chr 2, 240869364: 240869364
104AGXTNM_ 000030.2(AGXT): c.680+1G> CSNVPathogenicrs111996685GRCh37Chr 2, 241813480: 241813480
105AGXTNM_ 000030.2(AGXT): c.680+1G> ASNVPathogenicrs111996685GRCh37Chr 2, 241813480: 241813480
106AGXTNM_ 000030.2(AGXT): c.680+2T> ASNVPathogenicrs111742810GRCh37Chr 2, 241813481: 241813481
107AGXTNM_ 000030.2(AGXT): c.680+5G> CSNVPathogenicrs180177256GRCh38Chr 2, 240874067: 240874067
108AGXTNM_ 000030.2(AGXT): c.776+1G> A (p.Met259fs)SNVPathogenicrs180177265GRCh38Chr 2, 240875205: 240875205
109AGXTNM_ 000030.2(AGXT): c.776+1G> CSNVPathogenicrs180177265GRCh37Chr 2, 241814622: 241814622
110AGXTNM_ 000030.2(AGXT): c.846+1G> TSNVPathogenicrs180177281GRCh38Chr 2, 240876005: 240876005
111AGXTNM_ 000030.2(AGXT): c.846+1G> ASNVPathogenicrs180177281GRCh38Chr 2, 240876005: 240876005
112AGXTNM_ 000030.2(AGXT): c.942+1G> TSNVPathogenicrs180177297GRCh37Chr 2, 241817050: 241817050
113AGXTNM_ 000030.2(AGXT): c.1071+1G> ASNVPathogenicrs180177158GRCh37Chr 2, 241817568: 241817568
114AGXTNM_ 000030.2(AGXT): c.166-1G> ASNVPathogenicrs180177177GRCh38Chr 2, 240869169: 240869169
115AGXTNM_ 000030.2(AGXT): c.424-2A> G (p.Gly_ 142Gln145del)SNVPathogenicrs180177219GRCh37Chr 2, 241810764: 241810764
116AGXTNM_ 000030.2(AGXT): c.525-1G> ASNVPathogenicrs180177234GRCh37Chr 2, 241812395: 241812395
117AGXTNM_ 000030.2(AGXT): c.596-2A> GSNVPathogenicrs180177245GRCh38Chr 2, 240873976: 240873976
118AGXTNM_ 000030.2(AGXT): c.777-2A> GSNVPathogenicrs796052068GRCh38Chr 2, 240875933: 240875933
119AGXTNM_ 000030.2(AGXT): c.847-1G> CSNVPathogenicrs180177285GRCh37Chr 2, 241816953: 241816953
120AGXTNM_ 000030.2(AGXT): c.847-3C> GSNVPathogenicrs180177286GRCh38Chr 2, 240877534: 240877534
121AGXTNM_ 000030.2(AGXT): c.943-1G> TSNVPathogenic/ Likely pathogenicrs180177298GRCh38Chr 2, 240878021: 240878021
122AGXTNM_ 000030.2(AGXT): c.943-1G> ASNVPathogenicrs180177298GRCh38Chr 2, 240878021: 240878021
123AGXTNM_ 000030.2(AGXT): c.2_ 3delTGinsAT (p.Met1Asn)indelPathogenicrs180177194GRCh37Chr 2, 241808284: 241808285
124AGXTNM_ 000030.2(AGXT): c.32_ 33delCC (p.Pro11Glnfs)deletionPathogenicrs180177201GRCh37Chr 2, 241808314: 241808315
125AGXTNM_ 000030.2(AGXT): c.83delC (p.Pro28Leufs)deletionPathogenicrs180177278GRCh38Chr 2, 240868948: 240868948
126AGXTNM_ 000030.2(AGXT): c.116_ 117dupCA (p.Ala40Glnfs)duplicationPathogenic/ Likely pathogenicrs180177166GRCh38Chr 2, 240868981: 240868982
127AGXTNM_ 000030.2(AGXT): c.126delG (p.Leu43Cysfs)deletionPathogenicrs180177171GRCh37Chr 2, 241808408: 241808408
128AGXTNM_ 000030.2(AGXT): c.215dupA (p.Asn72Lysfs)duplicationPathogenicrs796052069GRCh38Chr 2, 240869219: 240869219
129AGXTNM_ 000030.2(AGXT): c.221_ 227dupTCACACT (p.Val77Hisfs)duplicationPathogenicrs180177183GRCh38Chr 2, 240869225: 240869231
130AGXTNM_ 000030.2(AGXT): c.276delT (p.Asn92Lysfs)deletionPathogenicrs180177187GRCh38Chr 2, 240869280: 240869280
131AGXTNM_ 000030.2(AGXT): c.283_ 285dupGAG (p.Glu95_ Pro96insGlu)duplicationPathogenicrs180177190GRCh38Chr 2, 240869287: 240869289
132AGXTNM_ 000030.2(AGXT): c.327delG (p.Gln110Serfs)deletionPathogenicrs180177200GRCh38Chr 2, 240869331: 240869331
133AGXTNM_ 000030.2(AGXT): c.359-4_ 379deldeletionPathogenicrs796052070GRCh37Chr 2, 241810057: 241810081
134AGXTNM_ 000030.2(AGXT): c.416_ 418delTGG (p.Val139del)deletionPathogenicrs180177215GRCh38Chr 2, 240870701: 240870703
135AGXTNM_ 000030.2(AGXT): c.447_ 454delGCTGCTGT (p.Leu151Asnfs)deletionPathogenicrs180177221GRCh38Chr 2, 240871372: 240871379
136AGXTNM_ 000030.2(AGXT): c.445delG (p.Val149Cysfs)deletionPathogenicrs180177220GRCh37Chr 2, 241810787: 241810787
137AGXTNM_ 000030.2(AGXT): c.460delA (p.Thr154Profs)deletionPathogenicrs180177224GRCh38Chr 2, 240871385: 240871385
138AGXTNM_ 000030.2(AGXT): c.519_ 520delCCinsGA (p.Cys173_ His174delinsTrpAsn)indelPathogenicrs180177233GRCh38Chr 2, 240871444: 240871445
139AGXTNM_ 000030.2(AGXT): c.557_ 562delCATCCCinsATCGGT (p.Ala186_ Ser187delinsAspArg)indelPathogenicrs180177237GRCh38Chr 2, 240873011: 240873016
140AGXTNM_ 000030.2(AGXT): c.570delG (p.Thr191Profs)deletionPathogenicrs180177240GRCh38Chr 2, 240873024: 240873024
141AGXTNM_ 000030.2(AGXT): c.577delC (p.Leu193Phefs)deletionPathogenic/ Likely pathogenicrs180177241GRCh38Chr 2, 240873031: 240873031
142AGXTNM_ 000030.2(AGXT): c.577dupC (p.Leu193Profs)duplicationPathogenicrs180177242GRCh38Chr 2, 240873031: 240873031
143AGXTNM_ 000030.2(AGXT): c.642_ 645delTCCA (p.Pro215Glyfs)deletionPathogenicrs180177251GRCh38Chr 2, 240874024: 240874027
144AGXTNM_ 000030.2(AGXT): c.661_ 663delTCC (p.Ser221del)deletionPathogenicrs796052071GRCh37Chr 2, 241813460: 241813462
145AGXTNM_ 000030.2(AGXT): c.679_ 680+2delAAGTdeletionPathogenicrs180177255GRCh38Chr 2, 240874061: 240874064
146AGXTNG_ 008005.1: g.10798_ 11529del732insTGAGAindelPathogenicGRCh38Chr 2, 240874542: 240875273
147AGXTNM_ 000030.2(AGXT): c.725dupT (p.Asp243Glyfs)duplicationPathogenicrs180177257GRCh37Chr 2, 241814570: 241814570
148AGXTNM_ 000030.2(AGXT): c.744delC (p.Asn249Thrfs)deletionPathogenicrs180177261GRCh37Chr 2, 241814589: 241814589
149AGXTNM_ 000030.2(AGXT): c.751_ 752delTGinsAA (p.Trp251Lys)indelPathogenicrs796052072GRCh37Chr 2, 241814596: 241814597
150AGXTNM_ 000030.2(AGXT): c.798_ 802delCATCAinsACAATCTCAG (p.Ile267Glnfs)indelPathogenicrs180177270GRCh38Chr 2, 240875956: 240875960
151AGXTNM_ 000030.2(AGXT): c.823_ 824dupAG (p.Ser275Argfs)duplicationPathogenicrs180177273GRCh37Chr 2, 241815398: 241815399
152AGXTNM_ 000030.2(AGXT): c.834delC (p.Ile279Leufs)deletionPathogenicrs180177276GRCh37Chr 2, 241815409: 241815409
153AGXTNG_ 008005.1: g.12906_ 14027del1122deletionPathogenicGRCh38Chr 2, 240876650: 240877771
154AGXTNM_ 000030.2(AGXT): c.860_ 861delGCinsCG (p.Ser287Thr)indelPathogenicrs180177289GRCh37Chr 2, 241816967: 241816968
155AGXTNM_ 000030.2(AGXT): c.886_ 888delGCG (p.Ala296del)deletionPathogenicrs180177291GRCh38Chr 2, 240877576: 240877578
156AGXTNM_ 000030.2(AGXT): c.919delC (p.Leu307Cysfs)deletionPathogenicrs180177295GRCh38Chr 2, 240877609: 240877609
157AGXTNM_ 000030.2(AGXT): c.959_ 960delCA (p.Thr320Serfs)deletionPathogenicrs796052074GRCh38Chr 2, 240878038: 240878039
158AGXTNM_ 000030.2(AGXT): c.971_ 972delTG (p.Val324Glyfs)deletionPathogenicrs180177300GRCh37Chr 2, 241817467: 241817468
159AGXTNM_ 000030.2(AGXT): c.983_ 988delCTGGCT (p.Ala328_ Tyr330delinsAsp)deletionPathogenicrs180177302GRCh38Chr 2, 240878062: 240878067
160AGXTNM_ 000030.2(AGXT): c.1110_ 1111delCG (p.Asn372Cysfs)deletionPathogenicrs796052075GRCh37Chr 2, 241818169: 241818170
161AGXTNM_ 000030.2(AGXT): c.1125_ 1126delCG (p.Val376Aspfs)deletionPathogenicrs180177164GRCh38Chr 2, 240878767: 240878768
162AGXTNG_ 008005.1: g.(14407_ 14970)_ (15375_ ?)deldeletionPathogenicGRCh38Chr 2, 240878151: 240879119
163AGXTNG_ 008005.1: g.(?_ 5001)_ (9305_ 10233)deldeletionPathogenicGRCh38Chr 2, 240868745: 240873977
164AGXTNG_ 008005.1: g.(?_ 5001)_ (11460_ 12190)deldeletionPathogenicGRCh38Chr 2, 240868745: 240875934
165AGXTNG_ 008005.1: g.(7706_ 9235)_ (15375_ ?)deldeletionPathogenicGRCh38Chr 2, 240871450: 240879119
166subset of 28 genes:HDAC4NC_ 000002.12: g.(?_ 239048168)_ (240879119_ ?)deldeletionPathogenicGRCh38Chr 2, 239048168: 240879119
167AGXTNM_ 000030.2(AGXT): c.673_ 676delAAGG (p.Lys225Profs)deletionLikely pathogenicrs1057516896GRCh37Chr 2, 241813472: 241813475
168AGXTAGXT, 1-BP INS, 33CinsertionPathogenic
169AGXTNM_ 000030.2(AGXT): c.508G> A (p.Gly170Arg)SNVPathogenic/ Likely pathogenicrs121908529GRCh37Chr 2, 241810850: 241810850
170AGXTNM_ 000030.2(AGXT): c.613T> C (p.Ser205Pro)SNVPathogenicrs121908520GRCh37Chr 2, 241813412: 241813412
171AGXTNM_ 000030.2(AGXT): c.198C> G (p.Tyr66Ter)SNVPathogenicrs121908521GRCh37Chr 2, 241808619: 241808619
172AGXTNM_ 000030.2(AGXT): c.245G> A (p.Gly82Glu)SNVPathogenic/ Likely pathogenicrs121908522GRCh37Chr 2, 241808666: 241808666
173AGXTNM_ 000030.2(AGXT): c.121G> A (p.Gly41Arg)SNVPathogenicrs121908523GRCh37Chr 2, 241808403: 241808403
174AGXTNM_ 000030.2(AGXT): c.454T> A (p.Phe152Ile)SNVPathogenicrs121908524GRCh37Chr 2, 241810796: 241810796
175AGXTNM_ 000030.2(AGXT): c.731T> C (p.Ile244Thr)SNVPathogenicrs121908525GRCh37Chr 2, 241814576: 241814576
176AGXTNM_ 000030.2(AGXT): c.697C> T (p.Arg233Cys)SNVPathogenicrs121908526GRCh37Chr 2, 241814542: 241814542
177AGXTNM_ 000030.2(AGXT): c.698G> A (p.Arg233His)SNVPathogenic/ Likely pathogenicrs121908527GRCh37Chr 2, 241814543: 241814543
178AGXTNM_ 000030.2(AGXT): c.738G> A (p.Trp246Ter)SNVPathogenicrs121908528GRCh37Chr 2, 241814583: 241814583
179AGXTNM_ 000030.2(AGXT): c.466G> A (p.Gly156Arg)SNVPathogenicrs121908530GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet