FGD1 (FYVE, RhoGEF and PH domain containing 1)

Gene

• Entrez ID: 2245
• Gene name: FYVE, RhoGEF and PH domain containing 1
• Gene symbol: FGD1
• Synonyms (NCBI Gene): AAS, FGDY, MRXS16, ZFYVE3
• Disease Acronyms (UniProt): AAS
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935497	C>T	Pathogenic	Coding sequence variant, missense variant
rs28935498	G>A	Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs137853264	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853265	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853266	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853267	T>C	Pathogenic	Coding sequence variant, missense variant
rs150865566	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200707592	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201996522	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906718	G>A	Pathogenic	Stop gained, coding sequence variant
rs398124155	A>C	Pathogenic	Stop gained, coding sequence variant
rs398124156	G>A	Pathogenic	Stop gained, coding sequence variant
rs398124159	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398124160	G>A	Pathogenic	Stop gained, coding sequence variant
rs398124161	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs398124162	->G	Pathogenic	Frameshift variant, coding sequence variant
rs756586058	G>-,GG,GGGGGGGGAGGGGCTCCGGGGGGGGGGG	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, inframe insertion
rs794727099	T>C	Pathogenic	Splice acceptor variant
rs1277307657	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1557189252	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557189455	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557189592	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557189608	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557189664	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557191567	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557191602	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569541211	C>T	Pathogenic	Splice donor variant
rs1569541255	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1601950553	C>T	Pathogenic	Splice acceptor variant
rs1601953552	A>T	Pathogenic	Coding sequence variant, stop gained
rs1601953661	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601954686	GAG>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	28735896
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	28735896
MIRT610382	hsa-miR-3909	HITS-CLIP	28735896
MIRT610382	hsa-miR-3909	HITS-CLIP	28735896
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	28735896
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	28735896
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	28735896
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	28735896
MIRT610379	hsa-miR-676-3p	HITS-CLIP	28735896
MIRT610379	hsa-miR-676-3p	HITS-CLIP	28735896
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	28735896
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	28735896
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	28735896
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	28735896
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT995167	hsa-miR-1225-3p	CLIP-seq
MIRT995168	hsa-miR-1324	CLIP-seq
MIRT995169	hsa-miR-3136-5p	CLIP-seq
MIRT995170	hsa-miR-3160-3p	CLIP-seq
MIRT995171	hsa-miR-3179	CLIP-seq
MIRT995172	hsa-miR-3192	CLIP-seq
MIRT995173	hsa-miR-3202	CLIP-seq
MIRT995174	hsa-miR-3689a-3p	CLIP-seq
MIRT995175	hsa-miR-3689c	CLIP-seq
MIRT995176	hsa-miR-3943	CLIP-seq
MIRT995177	hsa-miR-4283	CLIP-seq
MIRT995178	hsa-miR-4439	CLIP-seq
MIRT995179	hsa-miR-4447	CLIP-seq
MIRT995180	hsa-miR-4472	CLIP-seq
MIRT995181	hsa-miR-4487	CLIP-seq
MIRT995182	hsa-miR-4488	CLIP-seq
MIRT995183	hsa-miR-4489	CLIP-seq
MIRT995184	hsa-miR-4513	CLIP-seq
MIRT995185	hsa-miR-4646-3p	CLIP-seq
MIRT995186	hsa-miR-4697-5p	CLIP-seq
MIRT995187	hsa-miR-4728-5p	CLIP-seq
MIRT995188	hsa-miR-4747-5p	CLIP-seq
MIRT995189	hsa-miR-558	CLIP-seq
MIRT995190	hsa-miR-574-5p	CLIP-seq
MIRT995191	hsa-miR-943	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1995088	hsa-miR-4722-3p	CLIP-seq
MIRT2229156	hsa-miR-1207-5p	CLIP-seq
MIRT2229157	hsa-miR-1293	CLIP-seq
MIRT2229158	hsa-miR-1827	CLIP-seq
MIRT2229159	hsa-miR-1915	CLIP-seq
MIRT2229160	hsa-miR-2110	CLIP-seq
MIRT2229161	hsa-miR-296-5p	CLIP-seq
MIRT2229162	hsa-miR-3064-5p	CLIP-seq
MIRT2229163	hsa-miR-3132	CLIP-seq
MIRT2229164	hsa-miR-3150b-3p	CLIP-seq
MIRT2229165	hsa-miR-3151	CLIP-seq
MIRT2229166	hsa-miR-3612	CLIP-seq
MIRT2229167	hsa-miR-4265	CLIP-seq
MIRT2229168	hsa-miR-4271	CLIP-seq
MIRT2229169	hsa-miR-4296	CLIP-seq
MIRT2229170	hsa-miR-4322	CLIP-seq
MIRT2229171	hsa-miR-4443	CLIP-seq
MIRT2229172	hsa-miR-4446-3p	CLIP-seq
MIRT995179	hsa-miR-4447	CLIP-seq
MIRT2229173	hsa-miR-4461	CLIP-seq
MIRT2229174	hsa-miR-4471	CLIP-seq
MIRT995180	hsa-miR-4472	CLIP-seq
MIRT2229175	hsa-miR-4483	CLIP-seq
MIRT995181	hsa-miR-4487	CLIP-seq
MIRT2229176	hsa-miR-4492	CLIP-seq
MIRT2229177	hsa-miR-4498	CLIP-seq
MIRT2229178	hsa-miR-4505	CLIP-seq
MIRT2229179	hsa-miR-4508	CLIP-seq
MIRT2229180	hsa-miR-4536	CLIP-seq
MIRT2229181	hsa-miR-4650-3p	CLIP-seq
MIRT2229182	hsa-miR-4689	CLIP-seq
MIRT2229183	hsa-miR-4695-5p	CLIP-seq
MIRT2229184	hsa-miR-4697-3p	CLIP-seq
MIRT2229185	hsa-miR-4725-3p	CLIP-seq
MIRT2229186	hsa-miR-4763-3p	CLIP-seq
MIRT2229187	hsa-miR-4784	CLIP-seq
MIRT2229188	hsa-miR-491-5p	CLIP-seq
MIRT2229189	hsa-miR-601	CLIP-seq
MIRT2229190	hsa-miR-650	CLIP-seq
MIRT2229191	hsa-miR-762	CLIP-seq
MIRT2229192	hsa-miR-892b	CLIP-seq
MIRT2229193	hsa-miR-940	CLIP-seq
MIRT2229158	hsa-miR-1827	CLIP-seq
MIRT2229193	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	8969170
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007010	Process	Cytoskeleton organization	IBA	21873635
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007165	Process	Signal transduction	TAS	8969170
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007275	Process	Multicellular organism development	TAS	8969170
GO:0008360	Process	Regulation of cell shape	ISS
GO:0009887	Process	Animal organ morphogenesis	TAS	7954831
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	IDA	8969170
GO:0031267	Function	Small GTPase binding	IDA	8969170
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0043087	Process	Regulation of GTPase activity	IDA	8969170
GO:0046847	Process	Filopodium assembly	IBA	21873635
GO:0046847	Process	Filopodium assembly	IDA	8969170
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 300546
• HGNC: 3663
• e!Ensembl: ENSG00000102302

Protein

• UniProt ID: P98174
• Protein name: FYVE, RhoGEF and PH domain-containing protein 1 (Faciogenital dysplasia 1 protein) (Rho/Rac guanine nucleotide exchange factor FGD1) (Rho/Rac GEF) (Zinc finger FYVE domain-containing protein 3)
• Protein function: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	377 → 559	RhoGEF domain	Domain
  PF00169	PH	591 → 688	PH domain	Domain
  PF01363	FYVE	726 → 791	FYVE zinc finger	Domain
  PF00169	PH	822 → 921	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.
• Sequence:

  MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQF
  VGPSDTSLGAAPGHRVLPCGPSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPG
  QSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQVPPKPSYLQMPRMPPPLEPI
  PPPPSRPLPADPRVAKGLAPRAEASPSSAAVSSLIEKFEREPVIVASDRPVPGPSPGPPE
  PVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPNRDSGIDSISSPSNSEETCFV
  SDDGPPSHSLCPGPPALASVPVALADPHRPGSQEVDSDLEEEDDEEEEEEKDREIPVPLM
  ERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFCARLLEEARNRSSFPADVVHG
  IFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVEL
  VNTWTERSTQFKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPD
  SKDAQKSLELIATAAEHSNAAIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKL
  SAKNGTTQDRYLILFNDRLLYCVPRLRLLGQKFSVRARIDVDGMELKESSNLNLPRTFLV
  SGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKLLNSTNREDEDTPPNSPNVDL
  GKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRARLVYDNNRSNR
  VCTDCYVALHGVPGSSPACSQHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHK
  AWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEAGERPDRRHVFKITQSHLSWY
  FSPETEELQRRWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDK
  T

• Sequence length: 961

Pathways

KEGG:

Regulation of actin cytoskeleton

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aarskog syndrome	Aarskog syndrome	rs28935497, rs137853266, rs1569541255, rs137853267, rs387906718, rs756586058, rs1557189608, rs1557189252, rs1269514277, rs1557191567, rs1601953552, rs1601954686, rs1601950553, rs1601953661, rs1922859149	11093277, 7954831, 10930571, 17847065, 20082460, 14560308, 15327482, 21739585, 15809997, 17152066, 16353258
Anencephaly	Cranioschisis	rs773607884	11093277
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs786205019	15809997
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Mental retardation	Mental Retardation, X-Linked	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	11940089
Mental retardation, x-linked	MENTAL RETARDATION, X-LINKED, SYNDROMIC 16	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	14560308, 16353258, 20082460, 15809997, 24307393, 16688726, 22211847, 17152066, 11940089, 8969170, 19110080
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Aarskog-Scott Syndrome	Aarskog-Scott syndrome, X-linked			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Aarskog Syndrome	Associate	10930571, 20045932, 21212517, 21356349, 28103835, 32381089, 32606125, 35388608, 37337880, 39798962, 7557980, 7954831
Bruton type agammaglobulinemia	Associate	10930571
Carcinoma Renal Cell	Associate	35718636
Colorectal Neoplasms	Associate	34184409
Congenital Abnormalities	Associate	39798962
Diabetes Mellitus Type 2	Associate	35271662
Genetic Diseases X Linked	Associate	21356349
Hypogonadism	Associate	32381089
Mental Retardation X Linked 17	Associate	32381089
Muscular Diseases	Associate	35388608
Neoplasms	Associate	34184409
Sarcopenia	Associate	35271662