PAH (phenylalanine hydroxylase)

Gene

• Entrez ID: 5053
• Gene name: Phenylalanine hydroxylase
• Gene symbol: PAH
• Synonyms (NCBI Gene): PH, PKU, PKU1
• Chromosome: 12
• Chromosome location: 12q23.2
• Summary: This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1042503	C>G,T	Benign, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1522296	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1799970	A>G	Not-provided, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs5030654	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs5030841	A>G	Pathogenic	Coding sequence variant, missense variant
rs5030842	A>G	Pathogenic	Coding sequence variant, missense variant
rs5030843	C>G,T	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs5030844	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs5030845	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs5030846	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs5030847	G>A,C,T	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant, missense variant
rs5030849	C>A,G,T	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030850	G>A,C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs5030851	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030852	C>A,T	Not-provided, pathogenic	Splice donor variant, genic downstream transcript variant
rs5030853	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030854	G>C	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs5030855	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs5030856	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030857	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030858	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030859	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030860	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs5030861	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs62506949	G>-	Not-provided, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs62506950	->G	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs62506951	G>-,GG	Not-provided, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs62507261	C>A,G,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, intron variant
rs62507262	G>A,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62507265	T>A,C	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62507269	C>G,T	Not-provided, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs62507272	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs62507288	C>A,G,T	Likely-pathogenic, not-provided, pathogenic, uncertain-significance	Intron variant
rs62507321	C>A	Pathogenic	Intron variant
rs62507322	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs62507324	C>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant
rs62507328	T>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs62507335	C>T	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62507336	C>G,T	Not-provided, pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs62507341	A>C	Pathogenic	Intron variant
rs62507344	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant
rs62507347	T>C,G	Pathogenic-likely-pathogenic, not-provided, pathogenic	Missense variant, coding sequence variant
rs62507348	G>A,C	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs62508573	G>C	Not-provided, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs62508575	A>C,G	Likely-pathogenic, not-provided, pathogenic	Missense variant, initiator codon variant
rs62508578	T>C	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508584	C>T	Not-provided, pathogenic	Genic downstream transcript variant, splice donor variant
rs62508587	AG>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs62508588	C>A,T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508613	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant
rs62508628	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508642	C>G	Not-provided, likely-pathogenic	Intron variant
rs62508646	A>C,G	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508648	C>T	Likely-benign, likely-pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs62508649	T>C	Not-provided, pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs62508650	A>T	Not-provided, likely-pathogenic	Genic downstream transcript variant, intron variant
rs62508682	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs62508687	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs62508689	T>C,G	Likely-pathogenic, not-provided, pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant
rs62508691	G>A	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508692	T>C,G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508693	A>T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508694	C>G,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508695	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs62508698	C>G,T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508715	G>A,C	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508722	A>C,G,T	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508727	ATG>-	Pathogenic	Coding sequence variant, inframe deletion
rs62508730	C>A,T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508731	C>G,T	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508734	T>C	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508736	G>C,T	Not-provided, pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62508737	A>C,G	Not-provided, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs62508739	C>A,T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs62508752	T>C,G	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62509013	G>C	Pathogenic	Stop gained, coding sequence variant
rs62509015	C>A,G,T	Not-provided, pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs62509017	T>G	Pathogenic	Missense variant, coding sequence variant
rs62509019	T>A	Not-provided, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs62514891	T>A,C	Not-provided, pathogenic	Missense variant, initiator codon variant
rs62514893	C>A,G,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, initiator codon variant
rs62514895	C>A,T	Likely-pathogenic, pathogenic	Intron variant
rs62514898	C>A,T	Pathogenic, not-provided, likely-pathogenic	Splice donor variant
rs62514902	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs62514907	C>T	Pathogenic	Splice acceptor variant
rs62514909	G>C	Pathogenic	Intron variant
rs62514919	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62514927	T>C	Pathogenic	Missense variant, coding sequence variant
rs62514928	A>C,G	Likely-benign, pathogenic, benign	Synonymous variant, stop gained, coding sequence variant
rs62514929	G>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs62514931	G>T	Not-provided, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs62514933	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62514934	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62514936	CT>-	Not-provided, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs62514950	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62514952	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs62514953	G>A	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62514955	A>T	Not-provided, pathogenic	Genic downstream transcript variant, splice donor variant
rs62514956	C>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs62514957	C>T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62514958	G>A,C	Likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62514959	C>T	Not-provided, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs62516060	G>A	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516062	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516063	C>-	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs62516092	G>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516094	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs62516095	G>A,C,T	Pathogenic	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant
rs62516096	AAG>-	Not-provided, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs62516097	CCAGGGGGAGAAGCT>-	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs62516098	G>T	Not-provided, pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516101	C>G,T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516103	C>G	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516109	A>G	Pathogenic	Missense variant, coding sequence variant
rs62516141	T>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516142	C>A,G	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516146	C>T	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant
rs62516147	C>A,T	Not-provided, pathogenic	Genic downstream transcript variant, splice donor variant
rs62516149	T>A,C	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516150	C>A	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62516151	G>T	Not-provided, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs62516152	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs62516155	T>C	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62517163	T>A	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62517165	T>C	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant
rs62517166	C>G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs62517167	A>G	Not-provided, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62517168	T>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62517180	T>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs62517196	A>T	Not-provided, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs62517198	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs62517201	G>C,T	Pathogenic, not-provided, likely-pathogenic	Stop gained, coding sequence variant
rs62517205	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62517207	AT>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs62635346	T>A,C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs62642094	AAG>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs62642906	AG>-	Pathogenic	Stop gained, coding sequence variant
rs62642908	C>A,T	Not-provided, pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642910	G>C	Not-provided, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs62642913	G>A,C,T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642919	T>A,C	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642920	A>-	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs62642926	G>C	Pathogenic	Missense variant, coding sequence variant
rs62642928	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs62642929	G>T	Pathogenic	Missense variant, coding sequence variant
rs62642930	A>G	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642932	C>T	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642933	A>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642934	T>C	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642935	G>A,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642936	A>G	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642937	G>A	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642939	C>A,T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642940	G>T	Not-provided, pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62642941	A>-	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs62642945	G>A	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62644465	G>A	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62644469	A>G	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62644471	A>G,T	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62644473	G>A	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62644499	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62644501	T>C,G	Not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs62644503	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs63581460	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs74486803	C>A,G,T	Likely-pathogenic, pathogenic-likely-pathogenic, not-provided, pathogenic	Missense variant, coding sequence variant
rs74503222	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs74603784	C>G,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs75166491	G>A	Pathogenic	Missense variant, coding sequence variant
rs75193786	A>C,G,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, coding sequence variant
rs76212747	A>G,T	Not-provided, pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs76296470	G>A	Pathogenic	Stop gained, coding sequence variant
rs76394784	T>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs76542238	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs76687508	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs77554925	T>A,C,G	Benign, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs77958223	T>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs78655458	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs79635844	A>G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs79931499	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118092776	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs118203921	G>A	Pathogenic-likely-pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs118203923	G>A	Pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs118203925	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs138809906	A>G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs140175796	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs140945592	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs184148104	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs192592111	C>A	Pathogenic	Missense variant, coding sequence variant
rs199475565	AGA>-	Pathogenic, pathogenic-likely-pathogenic	Inframe deletion, coding sequence variant
rs199475566	AA>-,A	Pathogenic	Frameshift variant, stop gained, coding sequence variant
rs199475575	G>A	Pathogenic	Stop gained, coding sequence variant
rs199475577	T>C,G	Uncertain-significance, likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475578	G>A	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475579	C>A,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475582	C>T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475583	C>T	Likely-pathogenic, not-provided	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs199475584	T>A	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs199475585	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs199475589	G>C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199475590	T>-	Pathogenic, not-provided	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs199475591	C>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs199475598	A>C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs199475602	C>G,T	Pathogenic, pathogenic-likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475605	ATTG>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs199475606	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs199475608	A>C,G	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475610	G>A,T	Uncertain-significance, pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475611	C>A,G,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475613	C>A,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475614	A>C,G	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475615	C>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475618	TGT>-	Pathogenic, not-provided	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs199475623	T>A,C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475624	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475626	C>G,T	Uncertain-significance, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475632	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs199475634	G>C,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475641	->T	Likely-pathogenic, not-provided	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs199475643	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199475644	A>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475645	G>C,T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs199475647	T>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475650	G>A,T	Pathogenic, pathogenic-likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475654	G>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475655	G>C	Pathogenic	Missense variant, coding sequence variant
rs199475657	C>-	Likely-pathogenic, not-provided	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs199475658	C>G,T	Pathogenic, likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475659	G>T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475661	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199475663	C>G,T	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475665	CCT>-	Likely-pathogenic, not-provided	Splice acceptor variant, coding sequence variant
rs199475666	G>-	Pathogenic, not-provided	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs199475671	A>G,T	Uncertain-significance, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475673	A>C,G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475674	->C	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs199475675	C>A,G	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475676	G>A,C	Pathogenic, not-provided	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs199475679	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs199475680	G>A	Likely-pathogenic, not-provided	Stop gained, coding sequence variant
rs199475689	C>G,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199475692	T>A,C	Uncertain-significance, likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475693	C>G,T	Pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs199475694	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs199475697	TAGCAAGCATGGGTTTTATACA>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs199475698	A>G,T	Likely-pathogenic, not-provided	Intron variant
rs202183605	C>G,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs281865165	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs281865428	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs281865429	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs281865430	AG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs281865432	GA>TG	Likely-pathogenic	Missense variant, coding sequence variant
rs281865433	TC>AA	Likely-pathogenic	Missense variant, coding sequence variant
rs281865434	T>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865435	A>G,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865436	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865437	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865438	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs281865440	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs281865442	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs281865443	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs281865444	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs281865445	A>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865447	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs281865448	T>G	Likely-pathogenic	Splice acceptor variant
rs281865449	A>G	Pathogenic	Genic downstream transcript variant, splice donor variant
rs281865450	T>G	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs281865451	G>C	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs281865452	T>C,G	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs281865453	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865454	C>A	Pathogenic	Stop gained, coding sequence variant
rs281865455	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs281865456	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs376480977	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs398123292	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123294	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs542645236	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs567261857	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs672601294	G>-,GGG	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs749613899	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs752255985	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs762949770	C>A,G	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs763115697	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs764974157	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs765533320	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs773526027	T>C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs778154939	T>A,C	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs781096854	G>C,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs786204457	CC>TT	Likely-pathogenic	Splice donor variant, coding sequence variant
rs794727086	CTTTA>-	Likely-pathogenic, pathogenic	Terminator codon variant, stop lost, frameshift variant, 3 prime UTR variant, genic downstream transcript variant
rs794727619	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs796064501	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs796064502	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796064503	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs796064504	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs863225301	C>A	Pathogenic	Intron variant
rs869312996	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869312997	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886042078	A>C,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1025860114	A>G	Pathogenic	Splice donor variant
rs1037293795	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057516377	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516389	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516604	->A	Likely-pathogenic	Splice donor variant
rs1057516914	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057517009	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057520732	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant
rs1131691945	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1200240274	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1226613045	T>C	Pathogenic	Splice acceptor variant
rs1334974448	CTGTTA>-	Likely-pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1346707834	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1429055740	CT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1486763160	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1488232864	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555203363	CT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555203401	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555203666	C>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555203761	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555203951	T>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555204295	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555204434	T>A,C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant
rs1555204441	G>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555204492	CAAGCTGGGATGAAAAG>-	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant
rs1555204711	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555204750	T>C	Likely-pathogenic	Splice acceptor variant
rs1555207979	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555209575	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555209932	C>G	Likely-pathogenic	Splice donor variant
rs1565842203	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1565846764	A>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1565846805	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1565846863	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1565846899	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1565848061	A>T	Pathogenic	Missense variant, coding sequence variant
rs1565848110	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1565853495	TC>GT	Pathogenic	Missense variant, coding sequence variant
rs1565853526	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565866547	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592944816	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1592945607	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1592947508	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1592947538	->AGGGGAGAAGCTTTGGCTTCTCTGATAAG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1592947563	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1592947582	GTACTGTAGGCCCCA>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant, genic downstream transcript variant
rs1592949408	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1592952179	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1592952183	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1592953143	T>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1592961381	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592978629	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1592978725	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592978760	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1592978816	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1592978901	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1592978950	ATGTG>-	Pathogenic	Stop gained, coding sequence variant
rs1592978986	->TCAG	Pathogenic	Coding sequence variant, frameshift variant
rs1592978992	G>-	Pathogenic	Stop gained, coding sequence variant
rs1592979013	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1592991145	T>A	Likely-pathogenic	Intron variant
rs1592991176	->A	Pathogenic	Stop gained, coding sequence variant
rs1592991184	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs1592991196	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1592991220	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1592991243	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018158	hsa-miR-335-5p	Microarray	18185580
MIRT497090	hsa-miR-590-3p	PAR-CLIP	22291592
MIRT497089	hsa-miR-186-3p	PAR-CLIP	22291592
MIRT497090	hsa-miR-590-3p	PAR-CLIP	22291592
MIRT497089	hsa-miR-186-3p	PAR-CLIP	22291592
MIRT1210750	hsa-miR-186	CLIP-seq
MIRT1210751	hsa-miR-3133	CLIP-seq
MIRT1210752	hsa-miR-345	CLIP-seq
MIRT1210753	hsa-miR-4256	CLIP-seq
MIRT1210754	hsa-miR-4506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004505	Function	Phenylalanine 4-monooxygenase activity	IBA
GO:0004505	Function	Phenylalanine 4-monooxygenase activity	IDA	20667834
GO:0004505	Function	Phenylalanine 4-monooxygenase activity	IEA
GO:0004505	Function	Phenylalanine 4-monooxygenase activity	TAS	3856322
GO:0005506	Function	Iron ion binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006559	Process	L-phenylalanine catabolic process	IBA
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006571	Process	Tyrosine biosynthetic process	IBA
GO:0008652	Process	Amino acid biosynthetic process	TAS	3856322
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016714	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	IEA
GO:0019293	Process	Tyrosine biosynthetic process, by oxidation of phenylalanine	IEA
GO:0042423	Process	Catecholamine biosynthetic process	NAS	2872999
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 612349
• HGNC: 8582
• e!Ensembl: ENSG00000171759

Protein

• UniProt ID: P00439
• Protein name: Phenylalanine-4-hydroxylase (PAH) (EC 1.14.16.1) (Phe-4-monooxygenase)
• Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
• PDB: 1DMW, 1J8T, 1J8U, 1KW0, 1LRM, 1MMK, 1MMT, 1PAH, 1TDW, 1TG2, 2PAH, 3PAH, 4ANP, 4PAH, 5FII, 5PAH, 6HPO, 6HYC, 6N1K, 6PAH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01842	ACT	35 → 100	ACT domain	Domain
  PF00351	Biopterin_H	119 → 449	Biopterin-dependent aromatic amino acid hydroxylase	Domain

• Sequence:

  MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDV
  NLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPW
  FPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYM
  EEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
  RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFA
  QFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSE
  KPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQR
  IEVLDNTQQLKILADSINSEIGILCSALQKIK

• Sequence length: 452

Pathways

KEGG:

Phenylalanine metabolism
Phenylalanine, tyrosine and tryptophan biosynthesis
Folate biosynthesis
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Phenylketonuria
Phenylalanine metabolism

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Hyperphenylalaninemia	Mild non-PKU hyperphenylalanemia, Mild hyperphenylalaninemia	rs62514958, rs5030856, rs62517167	N/A
phenylketonuria	Phenylketonuria	rs199475626, rs62507282, rs184148104, rs62508734, rs1555204295, rs199475600, rs199475648, rs62508588, rs1799970, rs796064503, rs62508643, rs1555203951, rs62514957, rs62508727, rs1565853526, rs199475629, rs62508646, rs199475589, rs62508613, rs281865433, rs199475632, rs1486763160, rs199475693, rs62516151, rs1555203666, rs62507350, rs199475624, rs76394784, rs62507335, rs62514898, rs1057516604, rs62514931, rs281865435, rs773526027, rs63749677, rs5030856, rs199475577, rs62642928, rs281865165, rs62507336, rs62642935, rs62514907, rs749613899, rs62508717, rs199475663, rs62514956, rs199475581, rs5030842, rs199475645, rs63581460, rs192592111, rs199475653, rs1555204711, rs199475684, rs76212747, rs62508694, rs62508649, rs796064502, rs62514895, rs1874533541, rs62642926, rs1592945394, rs62506949, rs62508696, rs62509015, rs281865442, rs138809906, rs1592953143, rs62642910, rs5030847, rs751203209, rs199475633, rs199475694, rs398123292, rs199475676, rs62507288, rs1057516389, rs199475639, rs1555203401, rs62514902, rs62507283, rs62644475, rs281865440, rs199475689, rs1592991145, rs62642913, rs62516095, rs781096854, rs62516099, rs62508691, rs281865436, rs199475661, rs62508651, rs767453024, rs62507324, rs5030861, rs1555205655, rs62507279, rs62517195, rs62508689, rs199475610, rs62508650, rs869312997, rs62517205, rs1874691554, rs199475618, rs5030855, rs1592947508, rs199475695, rs62514958, rs62508615, rs62509018, rs199475575, rs1592961381, rs62642945, rs201245932, rs62516147, rs62517166, rs62507321, rs199475675, rs760830761, rs62514929, rs199475678, rs1429055740, rs62507270, rs5030854, rs62642916, rs62514936, rs62507260, rs1592991176, rs62651568, rs62514952, rs1565846764, rs199475674, rs199475686, rs62508578, rs62508715, rs281865438, rs199475679, rs62507265, rs1592947582, rs62516146, rs1555209578, rs199475586, rs62642941, rs199475666, rs199475628, rs542645236, rs62517180, rs1874735553, rs62508584, rs5030841, rs1488232864, rs62516142, rs62644499, rs62516152, rs62508674, rs281865443, rs199475602, rs1592978725, rs199475609, rs62514891, rs62507334, rs62508642, rs77554925, rs62508692, rs199475567, rs1555204434, rs62517198, rs63048261, rs1555203681, rs62506950, rs62507337, rs62644477, rs786204457, rs62514919, rs1592991184, rs62642915, rs62516096, rs1565846805, rs62642921, rs199475611, rs62517174, rs140945592, rs1592947538, rs62509019, rs5030858, rs1334974448, rs62516157, rs199475622, rs62644473, rs62508731, rs76542238, rs869312996, rs62507271, rs1876627337, rs62508637, rs62514934, rs62516102, rs62642934, rs5030845, rs199475658, rs281865445, rs77958223, rs1592978760, rs62642920, rs5030843, rs1555209575, rs62508684, rs62514909, rs199475655, rs199475644, rs62507341, rs763115697, rs62509013, rs62516149, rs62642094, rs376480977, rs62508679, rs62514903, rs62517167, rs62508594, rs62644467, rs199475565, rs62508587, rs1592991196, rs62642914, rs62514953, rs1565846863, rs62642942, rs75166491, rs62516061, rs886042078, rs62516103, rs199475634, rs1592947563, rs199475582, rs62642936, rs1555203363, rs62517183, rs199475606, rs75193786, rs199475579, rs199475641, rs1801147, rs1876628624, rs62517199, rs5030850, rs62516101, rs62508577, rs62508752, rs199475671, rs1592978901, rs199475608, rs5030846, rs1555209932, rs62508595, rs62508687, rs199475665, rs1555203737, rs62508718, rs62508722, rs62508695, rs199475604, rs62508582, rs62508682, rs62642937, rs76687508, rs62644501, rs794727086, rs5030844, rs1592991220, rs199475650, rs5030852, rs1565846899, rs199475691, rs62642906, rs62508735, rs1346707834, rs62508736, rs281865454, rs63102461, rs1592978816, rs199475660, rs62514959, rs62508737, rs62508628, rs199475623, rs62507347, rs74503222, rs199475591, rs1057516377, rs62514928, rs1877437661, rs62508573, rs62516097, rs62507348, rs63186960, rs281865429, rs199475617, rs1592978950, rs199475592, rs5030851, rs1565848110, rs62507329, rs80297647, rs199475690, rs199475651, rs1555204441, rs62514933, rs62516155, rs1555204750, rs62516062, rs62508575, rs62508730, rs62635346, rs794727619, rs62895363, rs1592991243, rs62642907, rs62642930, rs1565848061, rs62516141, rs79635844, rs62516150, rs1592945607, rs281865428, rs199475652, rs1592952179, rs62517168, rs62508698, rs778154939, rs62508686, rs199475605, rs62516092, rs62507338, rs199475630, rs567261857, rs63083560, rs199475616, rs199475566, rs62507319, rs118203923, rs62517208, rs62507261, rs281865449, rs62507328, rs1592978986, rs199475583, rs62514927, rs1565842203, rs5030654, rs199475649, rs62516109, rs62514950, rs762949770, rs1200240274, rs62516156, rs1555207979, rs62508591, rs74603784, rs199475696, rs765552494, rs199475585, rs1192400891, rs62642940, rs199475584, rs199475647, rs62517200, rs199475638, rs199475698, rs199475613, rs1592952183, rs62508693, rs199475673, rs199475680, rs62507322, rs62644503, rs199475619, rs1037293795, rs62508728, rs62508580, rs5030859, rs62507323, rs62507332, rs62514893, rs199475656, rs62508725, rs281865456, rs62517207, rs1592978992, rs62517165, rs5030849, rs62516098, rs199475597, rs199475654, rs62514951, rs672601294, rs1555204492, rs62516153, rs1592978629, rs62507262, rs1226613045, rs62516063, rs62642929, rs118203925, rs199475657, rs199475607, rs199475697, rs180819807, rs62642917, rs118203921, rs1565866547, rs62517194, rs199475603, rs281865448, rs199475596, rs1057520732, rs199475682, rs76296470, rs539743701, rs62516094, rs199475572, rs5030857, rs62642908, rs199475677, rs1057517009, rs62517201, rs199475614, rs62642933, rs62507326, rs62507344, rs62507269, rs62644469, rs281865430, rs62507272, rs1592979013, rs62642095, rs79931499, rs62506951, rs199475625, rs62642939, rs62507286, rs199475643, rs764974157, rs1592944816, rs62516154, rs199475627, rs74486803, rs199475578, rs199475659, rs796064501, rs63749676, rs1876628530, rs199475615, rs78655458, rs199475595, rs199475590, rs281865455, rs199475588, rs62508739, rs752255985, rs140175796, rs199475598, rs62642932, rs199475631, rs1057516914, rs62508721, rs281865447, rs62514955, rs1445893088, rs62509017, rs62516060, rs62514938, rs62644465, rs202183605, rs1025860114, rs5030860, rs1565853495, rs62517163, rs199475587, rs5030853, rs199475692	N/A
6-pyruvoyl-tetrahydropterin synthase deficiency	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	rs74486803, rs62514957, rs62514931, rs199475679, rs62514909, rs77958223, rs62642937, rs199475647	N/A
Breast Cancer	Malignant tumor of breast	rs62517194	N/A
Mental retardation	intellectual disability	rs62507350	N/A
Pituitary adenoma	Pituitary hormone deficiency, combined, 2	rs5030861	N/A
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	rs62516141, rs62508698	N/A
Pulmonary Hypertension	pulmonary hypertension, primary, 1	rs5030847, rs199475679, rs5030850	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Biliary Atresia	Biliary atresia	N/A	N/A	GWAS
Maternal Phenylketonuria	maternal phenylketonuria	N/A	N/A	GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adult onset citrullinemia type 2	Associate	33514801
Agnosia	Associate	18615627, 25878120, 3495303
Agnosia	Stimulate	34492682
Bone Marrow Failure Disorders	Associate	2403827
Breast Neoplasms	Associate	19440493, 30981841
Bruton type agammaglobulinemia	Associate	9260159
Chromosome Aberrations	Associate	14584073, 17503437, 17625066, 17702093
Chronic Disease	Associate	17178662, 17376889
Complement Component 3 Deficiency Autosomal Recessive	Associate	2212005
Coronary Artery Disease	Associate	10191298
Delusional Parasitosis	Associate	19268543
Disease	Associate	10471838, 21953985, 35749392
Ehlers Danlos Syndrome	Associate	31482689
Eisenmenger Complex	Inhibit	28286190
Emphysema	Associate	31980491
Genetic Diseases Inborn	Associate	35132195, 8352282
HELLP Syndrome	Associate	23093777
Hematologic Neoplasms	Associate	3167203
Hepatolenticular Degeneration	Associate	31482689
Hermanski Pudlak Syndrome	Associate	9740249
Holoprosencephaly recurrent infections and monocytosis	Associate	10583263
Hypersensitivity Immediate	Associate	34704413
Hypertension	Associate	10330357
Hypoglycemia	Associate	24627569
Intellectual Disability	Associate	23898865, 30678510, 36624928, 38105703
Job Syndrome	Associate	35132195
Kyphoscoliosis 1	Associate	31482689
Leiomyoma	Associate	23241241
Leukemia	Associate	10536003, 12893759, 3048438, 38192186
Leukemia Biphenotypic Acute	Associate	10936868, 33357137, 38192186
Leukemia Lymphocytic Chronic B Cell	Associate	10651734, 11380413, 12028030, 17625066, 18477035, 9858228
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10536003, 10583263, 10706077, 11535501, 12569603, 12893759, 1421402, 14584073, 15059141, 15167915, 15389825, 15507673, 1562719, 15786422, 15949566, 17503437, 17550857, 20377918, 22989955, 2310831, 23180012, 2403827, 2431286, 24629639, 25888368, 26881646, 2848601, 3164635, 3165298, 32362632, 34139044, 3495303, 3920244, 7718887, 7756658, 7929813, 8781437, 8822936, 9207439, 9269756, 9590155, 9864172
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	3304466
Leukemia Myeloid Acute	Associate	18615627, 20606363, 20664061, 30452397, 3048438, 3167203, 32362632
Leukemia Myeloid Chronic Phase	Associate	20377918, 20606363
Leukemia T Cell	Associate	9858228
Leukocytosis	Associate	2403827
Leukodystrophy Metachromatic	Associate	38203665
Lung Diseases Interstitial	Associate	31980491
Melanoma	Associate	29473999
Mental Disorders	Associate	23898865
Metabolism Inborn Errors	Associate	27453504, 30311390, 33514801
Mitochondrial Diseases	Associate	30678510
Muscular dystrophy congenital with central nervous system involvement	Associate	29465562
Myelodysplastic Syndromes	Inhibit	20377918
Myelodysplastic Syndromes	Associate	20664061, 32362632
Neoplasms	Associate	19615425, 20664061, 21212285, 21698292, 24173087, 27667010, 27875935, 27976991, 30452397, 30981841, 31289316, 32945548, 33921387, 37584526, 38143269
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	15327515, 18318760
Phenylketonuria Maternal	Associate	8487271
Phenylketonurias	Associate	10471838, 10875932, 11179966, 11476784, 11723206, 12501224, 1353941, 1361100, 14741785, 15330560, 1671810, 16755493, 1682495, 1709636, 18346471, 1851292, 18538294, 1867197, 18937293, 19292873, 1967207, 1971144, 1978553, 19946181, 1998345, 2006152, 2014802, 2035532, 2063869, 20667834, 20937381, 21527427, 21820508, 21953985, 2220810, 22841515, 23898865, 23942198, 24244510, 24705691, 24741310, 24927077, 24939588, 25338975, 2563633, 2564729, 2565077, 2569271, 2569272, 2570158, 2574002, 26322415, 26600521, 26666653, 27121329, 27308838, 28132689, 2816939, 28915855, 2904221, 29154227, 29317692, 29465562, 29473999, 29684050, 29997390, 30050108, 30067850, 30221392, 30287685, 30375370, 30668579, 30678510, 31118288, 31208052, 31482689, 31923802, 32074228, 32106880, 32668217, 33260674, 33375644, 33465300, 33514801, 33564846, 33980295, 34412683, 34704413, 34711827, 34828281, 34920737, 35213016, 35562892, 35749392, 35869558, 36104584, 36333673, 36537053, 36624928, 36787440, 37004080, 37098607, 37237386, 37446577, 37553307, 37818795, 38143269, 38203665, 3862128, 39256839, 39940237, 40447697, 40466680, 40473815, 40565238, 4405625, 496890, 7657610, 7668259, 7726156, 8097261, 8097262, 8320703, 8487271, 8592329, 8594560, 8659548, 8929956, 8981952, 9012412, 9391881, 9429153, 9556654, 9598724, 9634518, 9642259, 9799096
Phenylketonurias	Inhibit	2014036, 38105703
Phenylketonurias	Stimulate	38105685
Philadelphia Chromosome	Stimulate	28419558
Pigmentation Disorders	Associate	29473999
POEMS Syndrome	Associate	2403827
Polycythemia Vera	Associate	27667010
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	34906116, 36124444, 38139431
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Inhibit	35306218
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	17638851, 17852464, 18615627, 20533075, 20660823, 23169518, 25878120, 27587380, 29338593, 30521062, 33793964, 34461632, 34492682, 34875401, 35132195, 36124444, 38385617
Primary orthostatic tremor	Associate	36333673
Psychotic Disorders	Associate	19268543
Pulmonary Arterial Hypertension	Associate	28286190, 31980491, 36600187
Pulmonary Arterial Hypertension Hereditary Hemorrhagic Telangiectasia Related	Associate	22312021
Schizophrenia	Associate	18937293
Scleroderma Systemic	Associate	36600187
Segawa syndrome autosomal recessive	Associate	24753243
Thrombocytopenia	Associate	2403827
Trauma Nervous System	Associate	30221392
Tricuspid Atresia	Inhibit	28286190
Triple Negative Breast Neoplasms	Associate	37584526