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	aarskog syndrome

Disease ID	1017
Disease	aarskog syndrome
Definition	Aarskog syndromeis an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability. - NORD Reference: NORD
Synonym	aarskog disease aarskog syndrome (disorder) aarskog syndrome [dup] (disorder) aarskog syndrome, x-linked aarskog's syndrome aarskog-scott syndrome aarskogs syndrome aas facio-digito-genital dysplasia faciodigitogenital syndrome faciogenital dysplasia fgdy greig syndrome greigs syndrome scott aarskog syndrome
Orphanet	ORPHANET:915
OMIM	OMIM:305400
DOID	DOID:6683
UMLS	C0175701
SNOMED-CT	SNOMEDCT_US_2016_09_01:14921002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0026848 \| myopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2737 \| GLI3 \| UNIPROT 2245 \| FGD1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2245 \| FGD1 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 212 \| ALAS2 \| 2.217 \| DISEASES 257 \| ALX3 \| 1.996 \| DISEASES 8945 \| BTRC \| 3.016 \| DISEASES 2017 \| CTTN \| 2.823 \| DISEASES 23191 \| CYFIP1 \| 2.679 \| DISEASES 54954 \| FAM120C \| 4.041 \| DISEASES 2200 \| FBN1 \| 1.295 \| DISEASES 2245 \| FGD1 \| 8.139 \| DISEASES 89846 \| FGD3 \| 6.029 \| DISEASES 121512 \| FGD4 \| 4.062 \| DISEASES 55785 \| FGD6 \| 4.144 \| DISEASES 3725 \| JUN \| 2.003 \| DISEASES 5599 \| MAPK8 \| 1.478 \| DISEASES 5601 \| MAPK9 \| 1.362 \| DISEASES 4168 \| MCF2 \| 5.068 \| DISEASES 91624 \| NEXN \| 2.777 \| DISEASES 9124 \| PDLIM1 \| 1.929 \| DISEASES 23133 \| PHF8 \| 2.94 \| DISEASES 5742 \| PTGS1 \| 1.235 \| DISEASES 391 \| RHOG \| 2.739 \| DISEASES 6714 \| SRC \| 1.961 \| DISEASES 79805 \| VASH2 \| 3.274 \| DISEASES 7409 \| VAV1 \| 2.769 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1017
Disease	aarskog syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0003198 \| Myopathic changes \| 1 HP:0100754 \| Mania \| 1

Disease ID	1017
Disease	aarskog syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853264	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54465522	C	T
rs137853265	15809997	2245	FGD1	umls:C0175701	BeFree	Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).	0.487328931	2005	FGD1	X	54467901	C	T
rs137853265	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54467901	C	T
rs137853266	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54467796	C	A
rs137853267	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54465797	T	C
rs28935497	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54456233	C	T
rs28935497	10930571	2245	FGD1	umls:C0175701	UNIPROT	A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).	0.487328931	2000	FGD1	X	54456233	C	T
rs387906718	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54455497	G	A
rs398124155	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54467837	A	C
rs398124156	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54465725	G	A
rs398124160	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54495258	G	A
rs398124161	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54449694	-	AA
rs398124162	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54449671	-	G
rs756586058	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54470714	-	G
rs794727099	NA	2245	FGD1	umls:C0175701	CLINVAR	NA	0.487328931	NA	FGD1	X	54450303	T	C

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:0)
(Waiting for update.)

Disease ID	1017
Disease	aarskog syndrome
Case	(Waiting for update.)

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