Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Gly23_Glu24del (p.G23_E24del)
(
ENST00000279146.8,
ENST00000684006.1,
ENST00000683237.1,
ENST00000528641.7,
ENST00000684657.1,
ENST00000682659.1 )
AIP p.Gly47_Arg54del (p.G47_R54del) ( ENST00000279146.8, ENST00000684006.1, ENST00000683237.1, ENST00000528641.7, ENST00000683856.1, ENST00000684657.1, ENST00000682659.1 )
AIP p.Glu82GlyfsTer8 (p.E82Gfs*8) ( ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683856.1, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Val96ProfsTer33 (p.V96Pfs*33) ( ENST00000683237.1, ENST00000279146.8, ENST00000684006.1, ENST00000684657.1, ENST00000682659.1, ENST00000528641.7, ENST00000683856.1 )
AIP p.Gly117AlafsTer39 (p.G117Afs*39) ( ENST00000528641.7, ENST00000683856.1, ENST00000684657.1, ENST00000682659.1, ENST00000279146.8, ENST00000684006.1, ENST00000683237.1 )
AIP p.His135LeufsTer21 (p.H135Lfs*21) ( ENST00000279146.8, ENST00000684006.1, ENST00000683237.1, ENST00000683856.1, ENST00000528641.7, ENST00000684657.1, ENST00000682659.1 )
AIP p.Pro167HisfsTer4 (p.P167Hfs*4) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683856.1 )
AIP p.Glu174GlyfsTer47 (p.E174Gfs*47) ( ENST00000684657.1, ENST00000682659.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000279146.8, ENST00000684006.1 )
AIP p.Ile182SerfsTer14 (p.I182Sfs*14) ( ENST00000683237.1, ENST00000279146.8, ENST00000684006.1, ENST00000684657.1, ENST00000682659.1, ENST00000683856.1, ENST00000528641.7 )
AIP p.Tyr248del (p.Y248del) ( ENST00000683237.1, ENST00000279146.8, ENST00000684006.1, ENST00000684657.1, ENST00000682659.1, ENST00000683856.1, ENST00000528641.7 )
AIP p.Gln285LeufsTer17 (p.Q285Lfs*17) ( ENST00000528641.7, ENST00000683856.1, ENST00000684657.1, ENST00000682659.1, ENST00000279146.8, ENST00000684006.1, ENST00000683237.1 )
AIP p.Asp295_Leu298del (p.D295_L298del) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7 )
AIP p.Gly23_Glu24del (p.G23_E24del) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gly47_Arg54del (p.G47_R54del) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Glu82GlyfsTer8 (p.E82Gfs*8) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Val96ProfsTer33 (p.V96Pfs*33) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gly117AlafsTer39 (p.G117Afs*39) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.His135LeufsTer21 (p.H135Lfs*21) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Pro167HisfsTer4 (p.P167Hfs*4) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Glu174GlyfsTer47 (p.E174Gfs*47) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Ile182SerfsTer14 (p.I182Sfs*14) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Tyr248del (p.Y248del) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln285LeufsTer17 (p.Q285Lfs*17) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Asp295_Leu298del (p.D295_L298del) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Leu25ProfsTer131 (p.L25Pfs*131) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000528641.7 )
AIP p.Leu25?fsTer131 (p.L25?fs*131) ( ENST00000528641.7, ENST00000684657.1, ENST00000682659.1, ENST00000279146.8, ENST00000684006.1, ENST00000683237.1 )
AIP p.Glu293Gly (p.E293G) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7 )
AIP p.Leu25ProfsTer131 (p.L25Pfs*131) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Leu25?fsTer131 (p.L25?fs*131) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Glu293Gly (p.E293G) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
rs267606540
AIP p.? (p.?) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000528641.7 )
AIP p.Gln14Ter (p.Q14*) ( ENST00000528641.7, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Arg22Ter (p.R22*) ( ENST00000683237.1, ENST00000279146.8, ENST00000684006.1, ENST00000684657.1, ENST00000682659.1, ENST00000528641.7 )
AIP p.Glu24Ter (p.E24*) ( ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Arg56Ser (p.R56S) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7 )
AIP p.Arg56Cys (p.R56C) ( ENST00000279146.8, ENST00000684006.1, ENST00000683237.1, ENST00000683856.1, ENST00000528641.7, ENST00000684657.1, ENST00000682659.1 )
AIP p.Lys58Asn (p.K58N) ( ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Lys58Asn (p.K58N) ( ENST00000684006.1, ENST00000279146.8, ENST00000683237.1, ENST00000528641.7, ENST00000683856.1, ENST00000682659.1, ENST00000684657.1 )
AIP p.Arg81Ter (p.R81*) ( ENST00000528641.7, ENST00000683856.1, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Gly83= (p.G83=) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683856.1 )
AIP p.Glu84Lys (p.E84K) ( ENST00000684006.1, ENST00000279146.8, ENST00000683237.1, ENST00000528641.7, ENST00000683856.1, ENST00000682659.1, ENST00000684657.1 )
AIP c.280-1G>A ( ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Lys103Arg (p.K103R) ( ENST00000684006.1, ENST00000279146.8, ENST00000683237.1, ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1 )
AIP p.Gln142Ter (p.Q142*) ( ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP c.468+1G>A ( ENST00000279146.8, ENST00000684006.1, ENST00000683237.1, ENST00000528641.7, ENST00000683856.1, ENST00000684657.1, ENST00000682659.1 )
AIP c.469-2A>G ( ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP c.469-1G>A ( ENST00000683856.1, ENST00000528641.7, ENST00000684657.1, ENST00000682659.1, ENST00000279146.8, ENST00000684006.1, ENST00000683237.1 )
AIP p.Gln164Ter (p.Q164*) ( ENST00000528641.7, ENST00000683856.1, ENST00000684657.1, ENST00000682659.1, ENST00000279146.8, ENST00000684006.1, ENST00000683237.1 )
AIP p.Gln184Lys (p.Q184K) ( ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683856.1, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Gln184Ter (p.Q184*) ( ENST00000684657.1, ENST00000682659.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000279146.8, ENST00000684006.1 )
AIP p.Val195Ala (p.V195A) ( ENST00000683237.1, ENST00000279146.8, ENST00000684006.1, ENST00000684657.1, ENST00000682659.1, ENST00000528641.7, ENST00000683856.1 )
AIP p.Glu197= (p.E197=) ( ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Lys201Ter (p.K201*) ( ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Glu216Ter (p.E216*) ( ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Gln217Ter (p.Q217*) ( ENST00000279146.8, ENST00000684006.1, ENST00000683237.1, ENST00000683856.1, ENST00000528641.7, ENST00000684657.1, ENST00000682659.1 )
AIP p.Cys238Tyr (p.C238Y) ( ENST00000684657.1, ENST00000682659.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000279146.8, ENST00000684006.1 )
AIP p.Gln239Ter (p.Q239*) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683856.1 )
AIP p.Lys241Glu (p.K241E) ( ENST00000684006.1, ENST00000279146.8, ENST00000683237.1, ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1 )
AIP p.Lys241Ter (p.K241*) ( ENST00000279146.8, ENST00000684006.1, ENST00000683237.1, ENST00000528641.7, ENST00000683856.1, ENST00000684657.1, ENST00000682659.1 )
AIP p.Ile257Val (p.I257V) ( ENST00000684006.1, ENST00000279146.8, ENST00000683237.1, ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1 )
AIP p.Tyr268Cys (p.Y268C) ( ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Tyr268Ter (p.Y268*) ( ENST00000528641.7, ENST00000683856.1, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Phe269= (p.F269=) ( ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683856.1, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Arg271Trp (p.R271W) ( ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Ala277Pro (p.A277P) ( ENST00000682659.1, ENST00000684657.1, ENST00000528641.7, ENST00000683856.1, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Arg304Gly (p.R304G) ( ENST00000279146.8, ENST00000684006.1, ENST00000683237.1, ENST00000683856.1, ENST00000528641.7, ENST00000684657.1, ENST00000682659.1 )
AIP p.Arg304Ter (p.R304*) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7 )
rs267606540
AIP p.? (p.?) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln14Ter (p.Q14*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg22Ter (p.R22*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Glu24Ter (p.E24*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg56Ser (p.R56S) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg56Cys (p.R56C) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Lys58Asn (p.K58N) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Lys58Asn (p.K58N) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg81Ter (p.R81*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gly83= (p.G83=) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Glu84Lys (p.E84K) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP c.280-1G>A ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Lys103Arg (p.K103R) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln142Ter (p.Q142*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP c.468+1G>A ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP c.469-2A>G ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP c.469-1G>A ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln164Ter (p.Q164*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln184Lys (p.Q184K) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln184Ter (p.Q184*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Val195Ala (p.V195A) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Glu197= (p.E197=) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Lys201Ter (p.K201*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Glu216Ter (p.E216*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln217Ter (p.Q217*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Cys238Tyr (p.C238Y) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Gln239Ter (p.Q239*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Lys241Glu (p.K241E) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Lys241Ter (p.K241*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Ile257Val (p.I257V) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Tyr268Cys (p.Y268C) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Tyr268Ter (p.Y268*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Phe269= (p.F269=) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg271Trp (p.R271W) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Ala277Pro (p.A277P) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg304Gly (p.R304G) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg304Ter (p.R304*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.? (p.?)
AIP p.Glu222Ter (p.E222*)
AIP p.His275GlnfsTer13 (p.H275Qfs*13)
AIP p.His275_Ala276insSerSerGlyAlaArgProThr (p.H275_A276insSSGARPT)
AIP p.Gln307ProfsTer? (p.Q307Pfs*?)
AIP p.? (p.?)
AIP p.Glu222Ter (p.E222*)
AIP p.His275GlnfsTer13 (p.H275Qfs*13)
AIP p.His275_Ala276insSerSerGlyAlaArgProThr (p.H275_A276insSSGARPT)
AIP p.Arg307ProfsTer? (p.R307Pfs*?) - Associated Disease
- Growth Hormone-Secreting Pituitary Adenoma
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.241357209360402
- Year of publication
- NA
Drugs