PedAM

Pediatric Disease Annotations & Medicines


	alexander disease

Disease ID	116
Disease	alexander disease
Definition	A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.
Synonym	alexander disease [disease/finding] alexander's disease alexander's disease (disorder) alexanders disease alxdrd demyelinogenic leukodystrophy dysmyelinogenic leukodystrophy fibrinoid degeneration of astrocytes fibrinoid leukodystrophy leukodystrophy with rosenthal fibers
Orphanet	ORPHANET:58
OMIM	OMIM:203450
DOID	DOID:4252
UMLS	C0270726
MeSH	D038261
SNOMED-CT	SNOMEDCT_US_2016_09_01:81854007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0270612 \| leukoencephalopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NDUFV1 \| 4723 \| CTD_human GFAP \| 2670 \| CLINVAR;CTD_human;UNIPROT;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 410 \| ARSA \| DISEASES 10423 \| CDIPT \| DISEASES 1410 \| CRYAB \| DISEASES 23435 \| TARDBP \| DISEASES 8139 \| GAN \| DISEASES 3315 \| HSPB1 \| DISEASES 3976 \| LIF \| DISEASES 4294 \| MAP3K10 \| DISEASES 2670 \| GFAP \| DISEASES 3337 \| DNAJB1 \| DISEASES 4001 \| LMNB1 \| DISEASES 492 \| ATP2B3 \| DISEASES 9175 \| MAP3K13 \| DISEASES 839 \| CASP6 \| DISEASES 3073 \| HEXA \| DISEASES 6567 \| SLC16A2 \| DISEASES 6506 \| SLC1A2 \| DISEASES 146433 \| IL34 \| DISEASES 152185 \| SPICE1 \| DISEASES 8988 \| HSPB3 \| DISEASES 8419 \| BFSP2 \| DISEASES 5354 \| PLP1 \| DISEASES 23209 \| MLC1 \| DISEASES 1827 \| RCAN1 \| DISEASES 4723 \| NDUFV1 \| DISEASES 5339 \| PLEC \| DISEASES 10013 \| HDAC6 \| DISEASES 23336 \| SYNM \| DISEASES 3064 \| HTT \| DISEASES 1785 \| DNM2 \| DISEASES 2571 \| GAD1 \| DISEASES 54413 \| NLGN3 \| DISEASES 5599 \| MAPK8 \| DISEASES 6663 \| SOX10 \| DISEASES 2475 \| MTOR \| DISEASES 57165 \| GJC2 \| DISEASES 3766 \| KCNJ10 \| DISEASES 10763 \| NES \| DISEASES 5654 \| HTRA1 \| DISEASES 2730 \| GCLM \| DISEASES 9211 \| LGI1 \| DISEASES 5730 \| PTGDS \| DISEASES 2170 \| FABP3 \| DISEASES 1282 \| COL4A1 \| DISEASES 199 \| AIF1 \| DISEASES 631 \| BFSP1 \| DISEASES 152007 \| GLIPR2 \| DISEASES 3083 \| HGFAC \| DISEASES 1654 \| DDX3X \| DISEASES 8450 \| CUL4B \| DISEASES 5601 \| MAPK9 \| DISEASES 3908 \| LAMA2 \| DISEASES 3316 \| HSPB2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	116
Disease	alexander disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:67) HP:0002808 \| Kyphosis HP:0001618 \| Dysphonia HP:0001274 \| Agenesis of corpus callosum HP:0100729 \| Large face HP:0002514 \| Cerebral calcification HP:0000470 \| Short neck HP:0007162 \| Diffuse demyelination of the cerebral white matter HP:0001324 \| Muscle weakness HP:0002015 \| Dysphagia HP:0002019 \| Constipation HP:0003307 \| Hyperlordosis HP:0002607 \| Bowel incontinence HP:0100247 \| Recurrent singultus HP:0100716 \| Self-injurious behavior HP:0000496 \| Abnormality of eye movement HP:0002353 \| EEG abnormality HP:0004481 \| Progressively abnormally enlarging cranium HP:0001251 \| Ataxia HP:0007481 \| Hyperpigmented nevi HP:0002357 \| Dysphasia HP:0000238 \| Nonsyndromal hydrocephalus HP:0002376 \| Loss of developmental milestones HP:0000822 \| Hypertension HP:0000819 \| Diabetes mellitus HP:0001250 \| Seizures HP:0000238 \| Hydrocephalus HP:0002093 \| Respiratory insufficiency HP:0000508 \| Ptosis HP:0002445 \| Tetraplegia HP:0001257 \| Spasticity HP:0001252 \| Muscular hypotonia HP:0001260 \| Dysarthria HP:0002376 \| Developmental regression HP:0007256 \| Abnormal pyramidal signs HP:0010535 \| Sleep apnea HP:0001355 \| Megalencephaly HP:0002007 \| Frontal bossing HP:0001645 \| Sudden cardiac death HP:0000716 \| Depression HP:0002615 \| Hypotension HP:0010628 \| Facial palsy HP:0002045 \| Hypothermia HP:0000256 \| Macrocephaly HP:0000975 \| Hyperhidrosis HP:0002169 \| Clonus HP:0002167 \| Neurological speech impairment HP:0000821 \| Hypothyroidism HP:0000938 \| Osteopenia HP:0002017 \| Nausea and vomiting HP:0000651 \| Diplopia HP:0002072 \| Chorea HP:0002383 \| Encephalitis HP:0001347 \| Hyperreflexia HP:0000712 \| Emotional lability HP:0000639 \| Nystagmus HP:0002483 \| Bulbar signs HP:0002410 \| Aqueductal stenosis HP:0002922 \| Increased CSF protein HP:0002650 \| Scoliosis HP:0002360 \| Sleep disturbance HP:0002459 \| Dysautonomia HP:0001249 \| Intellectual disability HP:0001508 \| Failure to thrive HP:0000218 \| High palate HP:0001288 \| Gait disturbance HP:0000826 \| Precocious puberty HP:0001337 \| Tremor
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0007366 \| Brainstem atrophy \| 2 HP:0001297 \| Cerebral vascular events \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0007020 \| Progressive spastic paraplegia \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0000803 \| Cortical cysts \| 1

Disease ID	116
Disease	alexander disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C2364324 \| increased intracranial pressure C0700208 \| scoliosis
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:109)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs112611995	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913433	G	C
rs121909717	18685083	2670	GFAP	umls:C0270726	BeFree	Indeed, two other assembly-compromised GFAP constructs, namely enhanced green fluorescent protein (eGFP)-tagged GFAP and the Alexander disease-causing GFAP mutant, R416W GFAP both showed similar in vitro assembly characteristics to GFAP-delta and could also be incorporated into endogenous filament networks in transfected cells, providing expression levels were kept low.	0.52654694	2008	GFAP	17	44908075	G	T,A
rs121909717	16826512	2670	GFAP	umls:C0270726	BeFree	Collectively, these data confirm that the effects of the R416W GFAP are dominant, changing the assembly process in a way that encourages aberrant filament-filament interactions that then lead to protein aggregation and chaperone sequestration as early events in Alexander disease.	0.52654694	2006	GFAP	17	44908075	G	T,A
rs121909717	24742911	2670	GFAP	umls:C0270726	BeFree	The child was found to harbor the R416W mutation, one of the most prevalent mutations in the glial fibrillary acidic protein (GFAP) gene that causes Alexander disease.	0.52654694	2014	GFAP	17	44908075	G	T,A
rs121909717	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44908075	G	T,A
rs121909717	14550921	2670	GFAP	umls:C0270726	BeFree	A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.	0.52654694	2003	GFAP	17	44908075	G	T,A
rs121909718	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911277	C	G
rs121909719	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911751	C	A
rs121909720	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915253	G	T
rs267607500	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913430	C	T,G
rs267607501	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	NA	NA	NA	NA	NA
rs267607502	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911266	T	C
rs267607503	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911272	G	A
rs267607504	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915266	A	G
rs267607505	17960815	2670	GFAP	umls:C0270726	BeFree	A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease.	0.52654694	2008	GFAP	17	44913279	T	C
rs267607505	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913279	T	C
rs267607506	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915240	A	G
rs267607507	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913733	C	T
rs267607508	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44908128	G	T
rs267607509	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915105	C	T
rs267607510	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915278	C	T
rs267607511	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911287	A	G
rs267607512	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911237	G	C,A
rs267607513	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911375	G	C
rs267607514	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911369	C	T
rs267607515	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911293	A	T,G
rs267607516	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915185	A	G
rs267607517	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44910638	G	T,A
rs267607518	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915228	C	G,A
rs267607518	21822933	2670	GFAP	umls:C0270726	BeFree	Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.	0.52654694	2012	GFAP	17	44915228	C	G,A
rs267607519	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913310	A	G
rs267607520	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44908071	T	G
rs267607521	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44907369	T	A
rs267607523	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915273	C	T
rs267607525	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913342	T	G
rs267607526	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911252	C	G
rs28932768	12034796	2670	GFAP	umls:C0270726	UNIPROT	Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.	0.52654694	2002	NA	NA	NA	NA	NA
rs28932769	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911308	A	G
rs56679084	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913382	C	G
rs57120761	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915261	G	C,A
rs57120761	23364391	2670	GFAP	umls:C0270726	UNIPROT	Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.	0.52654694	2013	GFAP	17	44915261	G	C,A
rs57590980	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915257	T	C
rs57661783	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913421	C	T,A
rs57815192	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911251	T	C,A
rs58008462	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911267	A	G
rs58064122	23364391	2670	GFAP	umls:C0270726	UNIPROT	Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.	0.52654694	2013	GFAP	17	44913334	G	A
rs58064122	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913334	G	A
rs58075601	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911246	C	T,G
rs58536923	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911743	T	C
rs58645997	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911273	C	G
rs58732244	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915258	T	A
rs58732244	11567214	2670	GFAP	umls:C0270726	UNIPROT	Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.	0.52654694	2001	GFAP	17	44915258	T	A
rs59285727	23364391	2670	GFAP	umls:C0270726	UNIPROT	Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.	0.52654694	2013	GFAP	17	44915251	C	T,G,A
rs59285727	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915251	C	T,G,A
rs59565950	23364391	2670	GFAP	umls:C0270726	UNIPROT	Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.	0.52654694	2013	GFAP	17	44913333	C	T,G,A
rs59565950	17383133	2670	GFAP	umls:C0270726	BeFree	R239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease.	0.52654694	2007	GFAP	17	44913333	C	T,G,A
rs59565950	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913333	C	T,G,A
rs59568967	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915197	A	G
rs59628143	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911242	T	C
rs59661476	15030911	2670	GFAP	umls:C0270726	BeFree	A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.	0.52654694	2004	GFAP	17	44915218	A	G
rs59661476	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915218	A	G
rs59793293	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915252	G	T,C,A
rs59793293	23364391	2670	GFAP	umls:C0270726	UNIPROT	Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.	0.52654694	2013	GFAP	17	44915252	G	T,C,A
rs59793293	18584981	2670	GFAP	umls:C0270726	BeFree	We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation.	0.52654694	2009	GFAP	17	44915252	G	T,C,A
rs59985777	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911371	A	G
rs60095124	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915300	T	G
rs60269890	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913345	A	G
rs60343255	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915279	G	A
rs60449251	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915227	A	C
rs60551555	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913325	A	C
rs60551555	24003221	2670	GFAP	umls:C0270726	BeFree	Because K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of the paralogous Tyr in glial fibrillary acidic protein (GFAP), which is mutated in Alexander disease (Y242D).	0.52654694	2013	GFAP	17	44913325	A	C
rs60551555	24003221	3856	KRT8	umls:C0270726	BeFree	Because K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of the paralogous Tyr in glial fibrillary acidic protein (GFAP), which is mutated in Alexander disease (Y242D).	0.000271442	2013	GFAP	17	44913325	A	C
rs60825166	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911288	G	C
rs61060395	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915269	A	T,C
rs61497286	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913318	G	A
rs61622935	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915225	G	T,A
rs61622935	23364391	2670	GFAP	umls:C0270726	UNIPROT	Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.	0.52654694	2013	GFAP	17	44915225	G	T,A
rs61726468	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913276	C	T,G
rs61726468	11138011	2670	GFAP	umls:C0270726	UNIPROT	Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.	0.52654694	2001	GFAP	17	44913276	C	T,G
rs61726470	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913291	G	C
rs61726471	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44910629	T	A
rs62635764	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44908143	C	A
rs62636501	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911284	T	A
rs748860341	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44910143	C	G,T
rs763868966	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911429	C	A,T
rs797044569	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915290	C	T
rs797044570	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915282	C	T
rs797044571	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915255	C	T
rs797044572	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915248	A	G
rs797044573	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915231	T	C
rs797044574	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915209	T	G
rs797044575	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915113	-	GCCGCAGCT
rs797044576	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44915106	-	AGCCGC
rs797044577	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913357	A	T
rs797044578	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44913277	G	A
rs797044579	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911787	A	G
rs797044580	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	NA	NA	NA	NA	NA
rs797044581	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911779	C	G
rs797044582	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911775	G	T
rs797044583	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911710	G	C
rs797044584	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911315	-	CAAGTG
rs797044585	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911312	C	G
rs797044586	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911290	G	A
rs797044587	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911289	G	C
rs797044588	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911278	T	C
rs797044589	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44911245	T	G
rs797044590	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44910632	G	C,A
rs797044591	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44908072	C	-
rs797044592	NA	2670	GFAP	umls:C0270726	CLINVAR	NA	0.52654694	NA	GFAP	17	44910133	CAGCTAAC	GAT

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002516	Increased intracranial pressure	MP:0013310	abnormal adrenal gland development;HP:0002650	Scoliosis

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0270726	vigabatrin	D020888	60643-86-9	alexander disease	MESH:D038261	therapeutic	10802771

FDA approved drug and dosage information(Total Drugs:2)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D038261	sabril	vigabatrin	500MG	TABLET;ORAL	Prescription	None	Yes	Yes
MESH:D038261	sabril	vigabatrin	500MG/PACKET	FOR SOLUTION;ORAL	Prescription	AA	Yes	Yes

FDA labeling changes(Total Drugs:2)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D038261	10/26/2013	sabril	vigabatrin	Refractory complex partial seizures (rCPS)	Approved as adjunctive therapy for pediatric patients 10 years and older with rCPS for whom the potential benefits outweigh the risk of vision loss. Sabril is not a first line agent for rCPS Safety and effectiveness for pediatric patients less than 10 years with refractory rCPS have not been established Pooled data from 3 controlled trials in pediatric patients demonstrated that 6% (10/165) of Sabril patients experienced somnolence compared to 5% (5/104) of placebo patients. In those same studies, 10% (17/165) of Sabril patients experienced fatigue compared to 7% (7/104) of placebo patients; 47% (77/163) of Sabril patients versus 19% (19/102) of placebo patients gained greater than or equal to 7% of baseline body weight Adverse reactions (ARs) in the pediatric population were similar to those reported in adults. Overall, ARs in pediatric patients 10-16 years included increased weight, upper respiratory tract infection, tremor, fatigue, aggression and diplopia Information on weight based dosing, dosing in renal impairment, safety information and clinical trials	Labeling	-	-	B,P	-	Lundbeck LLC	3/10/2013	FALSE'
MESH:D038261	10/26/2013	sabril	vigabatrin	Refractory complex partial seizures (rCPS)	Approved as adjunctive therapy for pediatric patients 10 years and older with rCPS for whom the potential benefits outweigh the risk of vision loss. Sabril is not a first line agent for rCPS Safety and effectiveness for pediatric patients less than 10 years with refractory rCPS have not been established Pooled data from 3 controlled trials in pediatric patients demonstrated that 6% (10/165) of Sabril patients experienced somnolence compared to 5% (5/104) of placebo patients. In those same studies, 10% (17/165) of Sabril patients experienced fatigue compared to 7% (7/104) of placebo patients; 47% (77/163) of Sabril patients versus 19% (19/102) of placebo patients gained greater than or equal to 7% of baseline body weight Adverse reactions (ARs) in the pediatric population were similar to those reported in adults. Overall, ARs in pediatric patients 10-16 years included increased weight, upper respiratory tract infection, tremor, fatigue, aggression and diplopia Information on weight based dosing, dosing in renal impairment, safety information and clinical trials	Labeling	-	-	B,P	-	Lundbeck LLC	3/10/2013	FALSE'