PedAM

Pediatric Disease Annotations & Medicines


	fabry disease

Disease ID	69
Disease	fabry disease
Definition	An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Synonym	alpha galactosidase a defic dis alpha galactosidase a deficiency alpha galactosidase a deficiency disease alpha galactosidase deficiency alpha-galactosidase a deficiency alpha-galactosidase a deficiency (disorder) alpha-galactosidase a deficiency disease alpha-galactosidase-a deficiency anderson fabry disease anderson-fabry disease angiokeratoma corporis diffusum angiokeratoma corporis diffusum universale angiokeratoma diffuse angiokeratoma, diffuse cardiovasorenal syndrome ceramide lactoside lipidosis ceramide trihexosidase deficiency ceramide trihexoside lipoidosis ceramide trihexoside lipoidosis fabrys disease ceramide trihexosidosis deficiency of alpha-galactosidase deficiency of alpha-galactosidase (disorder) deficiency of melibiase deficiency, alpha-galactosidase a deficiency, ceramide trihexosidase deficiency, gla diffuse angiokeratoma disease fabry disease fabry's fabri disease fabry dis fabry disease [disease/finding] fabry syndrome fabry's disease fabry's disease (disorder) fabrys disease gla gla deficiency hereditary dystopic lipidosis lactosyl ceramidosis lipidosis, hereditary dystopic ruiter-pompen syndrome sweeley-klionsky disease thesaurismosis hereditaria thesaurismosis lipoidica
Orphanet	ORPHANET:324
OMIM	OMIM:301500 OMIM:300644
DOID	DOID:14499
UMLS	C0002986
MeSH	D000795
SNOMED-CT	SNOMEDCT_US_2016_09_01:124464003;SNOMEDCT_US_2016_09_01:16652001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:40) C0442874 \| neuropathy \| 6 C0022658 \| renal disease \| 4 C0007194 \| hypertrophic cardiomyopathy \| 3 C0002985 \| angiokeratoma \| 3 C0035078 \| renal failure \| 3 C0022658 \| nephropathy \| 2 C0878544 \| cardiomyopathy \| 2 C0033117 \| priapism \| 2 C0031117 \| peripheral neuropathy \| 2 C0033687 \| proteinuria \| 2 C0042373 \| vascular disease \| 2 C0002726 \| amyloidosis \| 2 C0022735 \| klinefelter syndrome \| 1 C0017661 \| iga nephropathy \| 1 C0235270 \| keratopathy \| 1 C0023434 \| small lymphocytic lymphoma \| 1 C0018799 \| cardiac disease \| 1 C0034735 \| raynaud's phenomenon \| 1 C0154723 \| migraine with aura \| 1 C0032633 \| dyshidrosis \| 1 C1960469 \| left ventricular noncompaction \| 1 C0007785 \| cerebral infarct \| 1 C0085078 \| lysosomal storage diseases \| 1 C0263639 \| angiokeratoma of fordyce \| 1 C0011570 \| depression \| 1 C0149931 \| migraine \| 1 C0026848 \| myopathy \| 1 C0024299 \| lymphoma \| 1 C0085078 \| lysosomal storage disease \| 1 C0345335 \| multicystic kidney \| 1 C0031069 \| familial mediterranean fever \| 1 C0022679 \| cystic kidney \| 1 C0023434 \| lymphocytic lymphoma \| 1 C0022661 \| end-stage renal disease \| 1 C0022661 \| end stage renal disease \| 1 C0085078 \| lysosomal storage disorders \| 1 C0007785 \| cerebral infarction \| 1 C0259749 \| autonomic neuropathy \| 1 C0020538 \| hypertension \| 1 C0007286 \| carpal tunnel syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) GLA \| 2717 \| CLINVAR;GHR;ORPHANET;OMIM;UNIPROT;CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 2717 \| GLA \| infer 3586 \| IL10 \| infer 3552 \| IL1A \| infer 3553 \| IL1B \| infer 4846 \| NOS3 \| infer 7124 \| TNF \| infer 7421 \| VDR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:126) 4074 \| M6PR \| DISEASES 2519 \| FUCA2 \| DISEASES 6362 \| CCL18 \| DISEASES 3207 \| HOXA11 \| DISEASES 972 \| CD74 \| DISEASES 55359 \| STYK1 \| DISEASES 410 \| ARSA \| DISEASES 2717 \| GLA \| DISEASES 173 \| AFM \| DISEASES 4126 \| MANBA \| DISEASES 397 \| ARHGDIB \| DISEASES 7128 \| TNFAIP3 \| DISEASES 80218 \| NAA50 \| DISEASES 53947 \| A4GALT \| DISEASES 3859 \| KRT12 \| DISEASES 348 \| APOE \| DISEASES 10343 \| PKDREJ \| DISEASES 10955 \| SERINC3 \| DISEASES 6272 \| SORT1 \| DISEASES 9958 \| USP15 \| DISEASES 2230 \| FDX1 \| DISEASES 10021 \| HCN4 \| DISEASES 11043 \| MID2 \| DISEASES 3783 \| KCNN4 \| DISEASES 4854 \| NOTCH3 \| DISEASES 4036 \| LRP2 \| DISEASES 3931 \| LCAT \| DISEASES 200576 \| PIKFYVE \| DISEASES 175 \| AGA \| DISEASES 3383 \| ICAM1 \| DISEASES 3073 \| HEXA \| DISEASES 8128 \| ST8SIA2 \| DISEASES 4864 \| NPC1 \| DISEASES 64129 \| TINAGL1 \| DISEASES 5972 \| REN \| DISEASES 285362 \| SUMF1 \| DISEASES 23500 \| DAAM2 \| DISEASES 1489 \| CTF1 \| DISEASES 4645 \| MYO5B \| DISEASES 29028 \| ATAD2 \| DISEASES 51422 \| PRKAG2 \| DISEASES 29881 \| NPC1L1 \| DISEASES 1636 \| ACE \| DISEASES 10841 \| FTCD \| DISEASES 151112 \| ZSWIM2 \| DISEASES 213 \| ALB \| DISEASES 5473 \| PPBP \| DISEASES 4846 \| NOS3 \| DISEASES 2819 \| GPD1 \| DISEASES 3094 \| HINT1 \| DISEASES 7314 \| UBB \| DISEASES 2548 \| GAA \| DISEASES 2244 \| FGB \| DISEASES 2353 \| FOS \| DISEASES 7369 \| UMOD \| DISEASES 126669 \| SHE \| DISEASES 695 \| BTK \| DISEASES 2820 \| GPD2 \| DISEASES 947 \| CD34 \| DISEASES 112 \| ADCY6 \| DISEASES 4281 \| MID1 \| DISEASES 2907 \| GRINA \| DISEASES 2629 \| GBA \| DISEASES 8411 \| EEA1 \| DISEASES 8851 \| CDK5R1 \| DISEASES 1351 \| COX8A \| DISEASES 23017 \| FAIM2 \| DISEASES 2200 \| FBN1 \| DISEASES 3590 \| IL11RA \| DISEASES 4166 \| CHST6 \| DISEASES 60529 \| ALX4 \| DISEASES 256933 \| NPB \| DISEASES 344018 \| FIGLA \| DISEASES 3916 \| LAMP1 \| DISEASES 682 \| BSG \| DISEASES 219541 \| MED19 \| DISEASES 3423 \| IDS \| DISEASES 7137 \| TNNI3 \| DISEASES 8481 \| OFD1 \| DISEASES 4625 \| MYH7 \| DISEASES 2760 \| GM2A \| DISEASES 1644 \| DDC \| DISEASES 84735 \| CNDP1 \| DISEASES 23607 \| CD2AP \| DISEASES 10724 \| MGEA5 \| DISEASES 57165 \| GJC2 \| DISEASES 5287 \| PIK3C2B \| DISEASES 7139 \| TNNT2 \| DISEASES 912 \| CD1D \| DISEASES 5654 \| HTRA1 \| DISEASES 5476 \| CTSA \| DISEASES 2170 \| FABP3 \| DISEASES 6428 \| SRSF3 \| DISEASES 7357 \| UGCG \| DISEASES 2517 \| FUCA1 \| DISEASES 1306 \| COL15A1 \| DISEASES 4855 \| NOTCH4 \| DISEASES 3376 \| IARS \| DISEASES 1282 \| COL4A1 \| DISEASES 29914 \| UBIAD1 \| DISEASES 1471 \| CST3 \| DISEASES 8869 \| ST3GAL5 \| DISEASES 5420 \| PODXL \| DISEASES 51360 \| MBTPS2 \| DISEASES 83959 \| SLC4A11 \| DISEASES 10670 \| RRAGA \| DISEASES 11168 \| PSIP1 \| DISEASES 11174 \| ADAMTS6 \| DISEASES 347527 \| ARSH \| DISEASES 64423 \| INF2 \| DISEASES 1621 \| DBH \| DISEASES 2319 \| FLOT2 \| DISEASES 5660 \| PSAP \| DISEASES 10117 \| ENAM \| DISEASES 4668 \| NAGA \| DISEASES 6161 \| RPL32 \| DISEASES 57096 \| RPGRIP1 \| DISEASES 6335 \| SCN9A \| DISEASES 10618 \| TGOLN2 \| DISEASES 11277 \| TREX1 \| DISEASES 3920 \| LAMP2 \| DISEASES 3850 \| KRT3 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 4607 \| MYBPC3 \| DISEASES 2108 \| ETFA \| DISEASES 7138 \| TNNT1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) GLA \| Xq22.1

Disease ID	69
Disease	fabry disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:65) HP:0011675 \| Arrhythmia HP:0000407 \| Sensorineural hearing impairment HP:0002823 \| Abnormality of the femur HP:0002829 \| Arthralgia HP:0003077 \| Hyperlipidemia HP:0002097 \| Emphysema HP:0000739 \| Anxiety HP:0001635 \| Congestive heart failure HP:0001678 \| Atrioventricular block HP:0000823 \| Delayed puberty HP:0100585 \| Telangiectasia of the skin HP:0100820 \| Glomerulopathy HP:0000708 \| Behavioral abnormality HP:0001637 \| Abnormality of the myocardium HP:0002321 \| Vertigo HP:0003326 \| Myalgia HP:0001945 \| Fever HP:0004322 \| Short stature HP:0002571 \| Achalasia HP:0000822 \| Hypertension HP:0000091 \| Abnormality of the renal tubule HP:0000873 \| Diabetes insipidus HP:0000524 \| Conjunctival telangiectasia HP:0001250 \| Seizures HP:0100543 \| Cognitive impairment HP:0000083 \| Renal insufficiency HP:0002093 \| Respiratory insufficiency HP:0007957 \| Corneal opacity HP:0000365 \| Hearing impairment HP:0000280 \| Coarse facial features HP:0011710 \| Bundle branch block HP:0002376 \| Developmental regression HP:0000962 \| Hyperkeratosis HP:0002094 \| Dyspnea HP:0000093 \| Proteinuria HP:0000100 \| Nephrotic syndrome HP:0000716 \| Depression HP:0003119 \| Abnormality of lipid metabolism HP:0012378 \| Fatigue HP:0000790 \| Hematuria HP:0001369 \| Arthritis HP:0002024 \| Malabsorption HP:0001004 \| Lymphedema HP:0002017 \| Nausea and vomiting HP:0004306 \| Abnormality of the endocardium HP:0000518 \| Cataract HP:0001131 \| Corneal dystrophy HP:0002326 \| Transient ischemic attack HP:0001903 \| Anemia HP:0001653 \| Mitral regurgitation HP:0006510 \| Chronic obstructive pulmonary disease HP:0000112 \| Nephropathy HP:0000179 \| Thick lower lip vermilion HP:0001646 \| Abnormality of the aortic valve HP:0004349 \| Reduced bone mineral density HP:0000648 \| Optic atrophy HP:0001681 \| Angina pectoris HP:0000966 \| Hypohidrosis HP:0100579 \| Mucosal telangiectasiae HP:0002039 \| Anorexia HP:0001482 \| Subcutaneous nodule HP:0001014 \| Angiokeratoma HP:0001639 \| Hypertrophic cardiomyopathy HP:0002027 \| Abdominal pain HP:0001712 \| Left ventricular hypertrophy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:38) HP:0001297 \| Cerebral vascular events \| 8 HP:0001712 \| Left ventricular hypertrophy \| 6 HP:0001714 \| Ventricular hypertrophy \| 6 HP:0001014 \| Angiokeratoma \| 5 HP:0001639 \| Hypertrophic cardiomyopathy \| 3 HP:0000083 \| Renal insufficiency \| 3 HP:0012531 \| Pain \| 3 HP:0000112 \| Nephropathy \| 2 HP:0003774 \| End-stage renal failure \| 2 HP:0001638 \| Cardiomyopathy \| 2 HP:0200023 \| Priapism \| 2 HP:0001945 \| Fever \| 2 HP:0009830 \| Peripheral neuritis \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0000093 \| Proteinuria \| 2 HP:0011034 \| Amyloid disease \| 2 HP:0001649 \| Tachycardia \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0002665 \| Lymphoma \| 1 HP:0002077 \| Migraine with aura \| 1 HP:0001685 \| Myocardial fibrosis \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0200034 \| Papule \| 1 HP:0002189 \| Excessive daytime sleepiness \| 1 HP:0009763 \| Limb pain \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0003756 \| Skeletal myopathy \| 1 HP:0000716 \| Depression \| 1 HP:0001730 \| Progressive hearing impairment \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0000822 \| Hypertension \| 1 HP:0011458 \| Abdominal symptom \| 1 HP:0030880 \| Raynaud phenomenon \| 1 HP:0001262 \| Somnolence \| 1 HP:0012577 \| Thin glomerular basement membrane \| 1 HP:0001662 \| Bradycardia \| 1

Disease ID	69
Disease	fabry disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:56) C2712340 \| dyspnoea C2598155 \| pain C2108077 \| atrioventricular block C2029884 \| hearing loss C1963154 \| renal failure C1962972 \| proteinuria C1868885 \| uncontrolled hypertension C1706559 \| cornea verticillata C1393529 \| vascular complications C1384666 \| hearing impairment C1318520 \| necrotizing vasculitis C0948600 \| organ failure C0948008 \| ischaemic stroke C0752303 \| urological manifestations C0752303 \| urological manifestation C0748159 \| pulmonary involvement C0598608 \| hyperhomocysteinaemia C0497327 \| dementia C0442874 \| neuropathy C0426576 \| gastrointestinal symptoms C0423716 \| neuropathic pain C0422833 \| ent symptoms C0376293 \| stigmata C0343190 \| cutaneous polyarteritis nodosa C0340425 \| hypertrophic cardiomyopathy C0333559 \| lacunar stroke C0260662 \| hearing disorders C0235031 \| neurological symptoms C0234230 \| burning pain C0234221 \| acroparaesthesia C0234131 \| motor dysfunction C0232306 \| left ventricular hypertrophy C0221505 \| cerebral lesions C0155765 \| microangiopathy C0151744 \| myocardial ischemia C0042373 \| vascular disease C0040053 \| thrombosis C0038454 \| stroke C0037285 \| skin manifestations C0035258 \| restless legs syndrome C0033975 \| psychosis C0033117 \| priapism C0031117 \| peripheral neuropathy C0029132 \| optic neuropathy C0025289 \| meningitis C0024236 \| lymphedema C0023223 \| leg ulcers C0022661 \| end-stage renal disease C0022658 \| renal disease C0022658 \| nephropathy C0022408 \| arthropathy C0018784 \| sensorineural hearing loss C0010036 \| corneal dystrophy C0004153 \| atherosclerosis C0002985 \| angiokeratomas C0002985 \| angiokeratoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:21) C0038454 \| stroke \| 8 C0442874 \| neuropathy \| 6 C0149721 \| left ventricular hypertrophy \| 6 C0022658 \| renal disease \| 4 C0035078 \| renal failure \| 3 C0030193 \| pain \| 3 C0423716 \| neuropathic pain \| 3 C0002985 \| angiokeratoma \| 3 C0007194 \| hypertrophic cardiomyopathy \| 3 C0022658 \| nephropathy \| 2 C0033117 \| priapism \| 2 C0042373 \| vascular disease \| 2 C0002985 \| angiokeratomas \| 2 C0033687 \| proteinuria \| 2 C0031117 \| peripheral neuropathy \| 2 C0022661 \| end-stage renal disease \| 1 C1706559 \| cornea verticillata \| 1 C1393529 \| vascular complications \| 1 C0948600 \| organ failure \| 1 C1384666 \| hearing loss \| 1 C0221505 \| cerebral lesions \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:33)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894828	20961863	2717	GLA	umls:C0002986	BeFree	A transgenic mouse expressing the human α-Gal A R301Q mutant in an α-Gal A-knockout background (TgM/KO) should be useful for studying active-site-specific chaperone (ASSC) therapy for Fabry disease.	0.664863403	2011	GLA;RPL36A-HNRNPH2	X	101398467	C	T,A
rs104894833	22305854	2717	GLA	umls:C0002986	BeFree	Recently, male subjects harboring the c.196G>C nucleotide change which leads to the E66Q enzyme having low α-galactosidase A (GLA) activity have been identified at an unexpectedly high frequency on Japanese and Korean screening for Fabry disease involving dry blood spots and plasma/serum samples.	0.664863403	2012	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	23724928	2717	GLA	umls:C0002986	BeFree	All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease.	0.664863403	2013	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	22695894	2717	GLA	umls:C0002986	BeFree	On the other hand, unexpectedly high frequencies of male subjects having the c.196G>C nucleotide change (p.E66Q) showing low α-GLA activity have been reported on Japanese and Korean screening for Fabry disease.	0.664863403	2012	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	22874111	2717	GLA	umls:C0002986	BeFree	The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.	0.664863403	2012	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	20505683	2717	GLA	umls:C0002986	BeFree	Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.	0.664863403	2010	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894848	10845698	2717	GLA	umls:C0002986	BeFree	Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.	0.664863403	2000	GLA;HNRNPH2;RPL36A-HNRNPH2	X	101407710	C	G
rs104894848	9554750	2717	GLA	umls:C0002986	BeFree	Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.	0.664863403	1998	GLA;HNRNPH2;RPL36A-HNRNPH2	X	101407710	C	G
rs28935191	19621417	2717	GLA	umls:C0002986	UNIPROT	Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).	0.664863403	2009	NA	NA	NA	NA	NA
rs28935192	7599642	2717	GLA	umls:C0002986	UNIPROT	Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.	0.664863403	1995	NA	NA	NA	NA	NA
rs28935193	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	NA	NA	NA	NA	NA
rs28935194	NA	2717	GLA	umls:C0002986	UNIPROT	NA	0.664863403	NA	NA	NA	NA	NA	NA
rs28935195	11316246	2717	GLA	umls:C0002986	BeFree	A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.	0.664863403	2001	GLA;RPL36A-HNRNPH2	X	101401713	C	T
rs28935195	7599642	2717	GLA	umls:C0002986	UNIPROT	Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.	0.664863403	1995	GLA;RPL36A-HNRNPH2	X	101401713	C	T
rs28935196	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101401695	A	G
rs28935197	15712228	2717	GLA	umls:C0002986	UNIPROT	Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.	0.664863403	2005	GLA;RPL36A-HNRNPH2	X	101398942	T	C
rs28935198	10916280	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.	0.664863403	2000	NA	NA	NA	NA	NA
rs28935485	10838196	2717	GLA	umls:C0002986	UNIPROT	Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.	0.664863403	2000	GLA;RPL36A-HNRNPH2	X	101398534	G	C
rs28935486	15712228	2717	GLA	umls:C0002986	UNIPROT	Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.	0.664863403	2005	GLA;RPL36A-HNRNPH2	X	101398795	T	A
rs28935487	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398789	T	A
rs28935488	8395937	2717	GLA	umls:C0002986	UNIPROT	Mutation analysis in patients with the typical form of Anderson-Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398563	A	G
rs28935489	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398479	G	A
rs28935490	11668641	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: 20 novel GLA mutations in 35 families.	0.664863403	2001	GLA;RPL36A-HNRNPH2	X	101398432	C	A
rs28935490	14680977	2717	GLA	umls:C0002986	BeFree	Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.	0.664863403	2003	GLA;RPL36A-HNRNPH2	X	101398432	C	A
rs28935491	10208848	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.	0.664863403	1999	GLA;RPL36A-HNRNPH2	X	101398390	G	T
rs28935492	15712228	2717	GLA	umls:C0002986	UNIPROT	Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.	0.664863403	2005	GLA;RPL36A-HNRNPH2	X	101398386	C	G
rs28935493	11531972	2717	GLA	umls:C0002986	BeFree	The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA).	0.664863403	2001	GLA;RPL36A-HNRNPH2	X	101398074	C	T
rs28935493	NA	2717	GLA	umls:C0002986	UNIPROT	NA	0.664863403	NA	GLA;RPL36A-HNRNPH2	X	101398074	C	T
rs28935494	8395937	2717	GLA	umls:C0002986	UNIPROT	Mutation analysis in patients with the typical form of Anderson-Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398018	C	T,G
rs28935495	15162124	2717	GLA	umls:C0002986	UNIPROT	Following the diagnosis of Fabry disease in a 45-year-old male, in 31 family members alpha-galactosidase A (alpha-Gal) activity in leucocytes was measured and mutation analysis of the alpha-Gal gene was performed.	0.664863403	2004	GLA;RPL36A-HNRNPH2	X	101398554	T	C
rs28936082	10208848	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.	0.664863403	1999	NA	NA	NA	NA	NA
rs662	22796398	5444	PON1	umls:C0002986	BeFree	The objective of the current study was to investigate the PON1 polymorphisms Gln192Arg and Leu55Met in FD patients and correlate them with clinical symptoms.	0.000542884	2012	PON1	7	95308134	T	C
rs854560	22796398	5444	PON1	umls:C0002986	BeFree	The objective of the current study was to investigate the PON1 polymorphisms Gln192Arg and Leu55Met in FD patients and correlate them with clinical symptoms.	0.000542884	2012	PON1	7	95316772	A	C,G,N,T

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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