Mutation in System Syndrom with Kidney Involvment

Gene Name	Gene Symbol	Locus ID	References
nephrosis 2, idiopathic, steroid-resistant (podocin)	NPHS2	7827	4
solute carrier family 2 (facilitated glucose transporter), member 2	SLC2A2	6514	2
Bardet-Biedl syndrome 1	BBS1	582	1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1	SLC12A1	6557	1
Wilms tumor 1	WT1	7490	21
sal-like 1 (Drosophila)	SALL1	6299	2
eyes absent homolog 1 (Drosophila)	EYA1	2138	7
oculocerebrorenal syndrome of Lowe	OCRL	4952	7
galactosidase, alpha	GLA	2717	3
Fraser syndrome 1	FRAS1	80144	1
phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	PTEN	5728	6
collagen, type IV, alpha 3 (Goodpasture antigen)	COL4A3	1285	4
myosin, heavy polypeptide 9, non-muscle	MYH9	4627	1
nephrosis 1, congenital, Finnish type (nephrin)	NPHS1	4868	2
cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	CFTR	1080	1
collagen, type IV, alpha 5 (Alport syndrome)	COL4A5	1287	18
LIM homeobox transcription factor 1, beta	LMX1B	4010	1
collagen, type IV, alpha 4	COL4A4	1286	4
von Hippel-Lindau syndrome	VHL	7428	63
paired box gene 2	PAX2	5076	11
chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)	CLCN5	1184	9
GATA binding protein 3	GATA3	2625	3
Bartter syndrome, infantile, with sensorineural deafness (Barttin)	BSND	7809	1
potassium inwardly-rectifying channel, subfamily J, member 1	KCNJ1	3758	1
Kallmann syndrome 1 sequence	KAL1	3730	4