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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Likely pathogenic; Pathogenic	rs62514909, rs199475647, rs199475679, rs74486803, rs62514931, rs62514957, rs62642937, rs776178623, rs767453024, rs77958223	RCV002222393 RCV003114254 RCV001530926 RCV005437967 RCV001192748 RCV004782238 RCV001280537 RCV001280536 RCV005236711 RCV004526825 RCV005406807	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs5030861	RCV005887146	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs376480977	RCV005901499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperphenylalaninemia	Pathogenic; Likely pathogenic	rs62507288, rs62514902, rs199475602, rs62517205, rs62516151, rs62514891, rs5030846, rs5030860, rs5030852, rs5030855, rs5030859, rs62644499, rs62642934, rs62516060, rs5030856, rs62642937, rs118203925, rs74486803, rs76212747, rs62508689, rs62507347, rs199475598, rs62642939, rs5030853	RCV004798775 RCV004798776 RCV000589313 RCV000588479 RCV000000613 RCV000000617 RCV004798707 RCV000000624 RCV004798708 RCV004798709 RCV004798710 RCV000000648 RCV000000649 RCV000000655 RCV000000656 RCV000000660 RCV000000662 RCV000000663 RCV000000664 RCV000000665 RCV000000671 RCV000588067 RCV000588535 RCV000590551	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs62507350	RCV001252101	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Likely pathogenic	rs62517194	RCV004542806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs5030861	RCV005887145	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Pathogenic	rs62642937	RCV000850463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild hyperphenylalaninemia	Pathogenic	rs5030856	RCV003993726	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild non-PKU hyperphenylalanemia	Likely pathogenic	rs62514958, rs62517167	RCV000000647 RCV000000659	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAH-related disorder	Pathogenic; Likely pathogenic	rs62516062, rs62516141, rs62508650, rs76542238, rs199475619, rs62508695, rs62642929, rs140175796, rs80297647, rs199475602, rs62507336, rs62514895, rs62517180, rs62514933, rs62516152, rs76687508, rs62642095, rs5030861, rs5030858, rs62508698, rs5030849, rs62516151, rs5030843, rs5030846, rs5030851, rs62508588, rs5030860, rs62514952, rs78655458, rs62642926, rs5030841, rs5030859, rs62642933, rs62644499, rs5030856, rs62517167, rs62642937, rs75193786, rs201245932, rs1565853495, rs192592111, rs180819807, rs1448720360, rs62516092, rs5030857, rs199475598, rs76394784, rs62507321, rs77958223, rs62642935	RCV004739361 RCV004739362 RCV004724807 RCV003407485 RCV004739363 RCV003407486 RCV003915115 RCV003925098 RCV003894944 RCV003905086 RCV003390790 RCV004739364 RCV003415875 RCV004739365 RCV003390791 RCV003398705 RCV004739366 RCV004739367 RCV003407249 RCV003415607 RCV004739272 RCV003904790 RCV003934787 RCV003415608 RCV003407250 RCV003914790 RCV004739273 RCV003398401 RCV003914791 RCV004739274 RCV003904791 RCV003421890 RCV003934788 RCV004739275 RCV003415609 RCV003914792 RCV003914793 RCV003390629 RCV003398402 RCV003420168 RCV004723137 RCV004740460 RCV004740552 RCV004740612 RCV003944994 RCV003915048 RCV004739340 RCV003398669 RCV004739341 RCV004739342 RCV004739343	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Phenylketonuria	Likely pathogenic; Pathogenic	rs1875378128, rs766107583, rs2136639687, rs62517168, rs1373264140, rs2136646301, rs2136646337, rs2136649225, rs2136649242, rs2136649263, rs199475689, rs62514907, rs2136635839, rs781096854, rs62642944, rs1874735553, rs2136649605, rs2136649777, rs62517174, rs62516061, rs62508735, rs62516150, rs62517200, rs62516153, rs62507282, rs63581460, rs62508651, rs62507265, rs62508679, rs62508582, rs62516062, rs62516063, rs62516154, rs199475600, rs62508646, rs62507279, rs62516157, rs62517183, rs62508628, rs62508686, rs62516094, rs62507350, rs199475633, rs62516147, rs62507334, rs62508684, rs62508595, rs62507329, rs5030654, rs62516098, rs62506951, rs62517163, rs62508717, rs62516099, rs199475674, rs62642921, rs62642942, rs199475691, rs62516141, rs62517194, rs62516101, rs199475629, rs62506949, rs199475695, rs62516142, rs62516102, rs62516103, rs62508736, rs199475638, rs199475603, rs199475590, rs62508613, rs62509015, rs62509018, rs62508674, rs199475658, rs63186960, rs62507261, rs62508725, rs62644469, rs62644465, rs62642928, rs62644475, rs62642916, rs62644477, rs62644467, rs62644501, rs62635346, rs199475696, rs199475607, rs199475659, rs1799970, rs62508649, rs62508650, rs199475628, rs76542238, rs199475641, rs199475591, rs199475630, rs199475619, rs199475677, rs199475631, rs62514898, rs62507288, rs199475567, rs62507341, rs199475665, rs199475651, rs199475634, rs672601294, rs199475643, rs75193786, rs5030842, rs62514891, rs199475639, rs199475678, rs63048261, rs62642094, rs62508695, rs62507347, rs62507332, rs62507326, rs62509017, rs63749677, rs62514902, rs62507270, rs62506950, rs62514903, rs62508677, rs62508682, rs62508575, rs62508591, rs62642929, rs199475627, rs199475648, rs199475684, rs62517195, rs199475586, rs199475622, rs199475606, rs199475623, rs199475605, rs199475680, rs199475572, rs140175796, rs199475624, rs199475694, rs62517166, rs62508642, rs62514909, rs80297647, rs199475649, rs199475597, rs199475625, rs199475587, rs199475663, rs199475686, rs199475611, rs75166491, rs62642906, rs79635844, rs199475647, rs199475595, rs199475626, rs199475645, rs199475661, rs199475679, rs63102461, rs199475652, rs199475613, rs199475596, rs199475588, rs199475632, rs138809906, rs199475575, rs74486803, rs199475602, rs77958223, rs199475671, rs199475617, rs199475664, rs62507328, rs62517207, rs62507272, rs62507336, rs62507260, rs62514919, rs62508587, rs5030844, rs62895363, rs199475585, rs199475697, rs63749676, rs62508643, rs62514895, rs62517205, rs62517180, rs62507271, rs1801147, rs62514928, rs63083560, rs62508728, rs62517201, rs62508721, rs62514931, rs62514929, rs62517198, rs62509013, rs62508718, rs62514933, rs62507319, rs62507323, rs199475589, rs62508696, rs62508615, rs62516152, rs5030845, rs62508577, rs62507348, rs62517208, rs199475656, rs62507269, rs62514938, rs199475577, rs62517178, rs62507283, rs62507337, rs62508594, rs76687508, rs62508730, rs199475657, rs199475578, rs62508588, rs62508694, rs76212747, rs199475610, rs199475666, rs62508731, rs199475579, rs74503222, rs62507338, rs5030847, rs62644503, rs5030848, rs62642908, rs62642932, rs5030849, rs62507335, rs199475676, rs199475675, rs62508692, rs199475644, rs62508687, rs199475690, rs62514950, rs62514951, rs62507286, rs199475692, rs199475581, rs62508691, rs62508715, rs62516149, rs62508722, rs62516155, rs62516156, rs62507262, rs62508698, rs62508734, rs199475653, rs5030852, rs62507324, rs62516146, rs62509019, rs199475582, rs199475660, rs62508693, rs199475682, rs62508739, rs199475693, rs62642910, rs62642945, rs199475609, rs62642920, rs199475608, rs199475592, rs199475583, rs62517165, rs62642095, rs62642935, rs62642913, rs62651568, rs62642915, rs62642914, rs199475650, rs62642907, rs62642940, rs62642917, rs199475615, rs62514957, rs199475618, rs62508584, rs62508637, rs62517199, rs62508573, rs199475616, rs62508580, rs199475614, rs2136634974, rs2136636327, rs2136648640, rs2136646052, rs2136631967, rs1555204295, rs1565853526, rs281865447, rs281865435, rs281865436, rs281865438, rs140945592, rs281865454, rs281865428, rs199475698, rs281865448, rs281865455, rs281865433, rs281865442, rs281865443, rs281865445, rs62508752, rs281865429, rs199475654, rs281865449, rs281865456, rs281865430, rs202183605, rs281865165, rs281865440, rs62644499, rs2136649533, rs1371700813, rs62644471, rs2136635740, rs1242756437, rs2136646392, rs2136649239, rs62514959, rs5030854, rs2136635779, rs772918939, rs1205657950, rs2136701994, rs5030851, rs542645236, rs765934604, rs62514936, rs1263259211, rs2136635586, rs1375045653, rs1878413079, rs1875371404, rs2136728245, rs1025860114, rs2136701578, rs199475573, rs2136635468, rs751977644, rs2136649216, rs570748767, rs62508593, rs5030861, rs5030858, rs62642936, rs76296470, rs62516151, rs5030843, rs5030846, rs62514927, rs79931499, rs5030860, rs62516095, rs62514952, rs62516096, rs62514953, rs62642930, rs199475584, rs118203921, rs78655458, rs62508727, rs62642926, rs5030855, rs5030841, rs62514934, rs5030850, rs199475566, rs5030859, rs62642933, rs62514955, rs62514958, rs62642934, rs62516097, rs118203923, rs62514893, rs62507344, rs62516060, rs5030856, rs62517167, rs62642937, rs74603784, rs118203925, rs62508689, rs62642941, rs62644473, rs2136646020, rs2136646297, rs1237792711, rs2136639639, rs2136639683, rs2136635903, rs2136636774, rs1344368175, rs2136663420, rs2136702049, rs2136632085, rs2136646367, rs776829633, rs2499614247, rs2499636974, rs2499614171, rs1331306772, rs2499626365, rs2499625821, rs2499626026, rs2499625897, rs2499621897, rs2499495824, rs2499542511, rs2499496098, rs2499625095, rs1001642956, rs2499546405, rs2499613973, rs2499613967, rs2499615095, rs550037937, rs1801152, rs1875377960, rs1592944816, rs786204457, rs199475565, rs2499625917, rs869312997, rs1876627337, rs866012140, rs2499626022, rs2499614156, rs794727086, rs2499623316, rs794727619, rs1162831467, rs62508617, rs765552494, rs796064501, rs796064503, rs796064502, rs2499626437, rs751203209, rs2499636893, rs2499546518, rs2499637040, rs1875158272, rs2136702072, rs2499626313, rs869312996, rs2499617367, rs2499521013, rs2499623474, rs1187270724, rs2499626176, rs2499521340, rs2499611116, rs2499614176, rs140243918, rs2136728385, rs1875353511, rs2499623283, rs62508753, rs2499521460, rs2499615219, rs2499609864, rs2499626087, rs2499626201, rs2499521354, rs2499521071, rs2499625924, rs2499542607, rs2499636931, rs1846383965, rs1876628624, rs2499625936, rs2499615233, rs2499623150, rs2499621854, rs2499542595, rs1874539947, rs1592947563, rs2499614160, rs2499617336, rs1169310686, rs2499615063, rs2499623566, rs62517164, rs1555204441, rs1237673210, rs2499623372, rs2499542475, rs1291212529, rs1057516377, rs567261857, rs1037293795, rs1057517009, rs1057516914, rs1057516604, rs1057516389, rs760830761, rs1555204434, rs763115697, rs1555203737, rs762949770, rs1555204492, rs1402168594, rs764974157, rs1445893088, rs773526027, rs1555203401, rs1429055740, rs1555203681, rs376480977, rs199475604, rs1555204750, rs1555207979, rs1226613045, rs1555203951, rs1555204711, rs1555205655, rs1555209578, rs1334974448, rs1555203363, rs62508737, rs778154939, rs199475673, rs539743701, rs752255985, rs1555203666, rs62514954, rs201245932, rs1555209575, rs1555209932, rs1565848110, rs1565842203, rs1565853495, rs749613899, rs1565846764, rs1565846805, rs1565846863, rs1565846899, rs1565848061, rs1565866547, rs1592945394, rs1592947508, rs1488232864, rs886042078, rs1346707834, rs1592945607, rs1200240274, rs1592978629, rs184148104, rs192592111, rs767453024, rs1592947582, rs1592947538, rs1592978816, rs1592952179, rs1592952183, rs1057520732, rs62642939, rs1486763160, rs1592953143, rs1592961381, rs1592978725, rs1592978760, rs1592978901, rs1592978950, rs1592978986, rs1592978992, rs1592979013, rs1592991145, rs1592991176, rs1592991184, rs1592991196, rs1592991220, rs1592991243, rs1192400891, rs180819807, rs1876628530, rs1874533541, rs62507322, rs1874691554, rs1877437661, rs149595475, rs1448720360, rs1874485021, rs1874535712, rs767075719, rs1874543567, rs1874547168, rs1874693635, rs1874694965, rs1874733519, rs1874741770, rs1231529155, rs62517204, rs1592954413, rs1877430029, rs1875230062, rs1477313214, rs776178623, rs1874691210, rs1876626818, rs1877437047, rs1878255139, rs1875163630, rs281865444, rs1399587250, rs199475670, rs1875371722, rs1876618843, rs62514956, rs1875372846, rs1877434368, rs1874550090, rs1471682834, rs1877439517, rs1875366372, rs1877424058, rs1875354018, rs1875984331, rs748337823, rs1191473722, rs1466564208, rs1874549626, rs62507321, rs1874541064, rs1875368328, rs62516092, rs5030857, rs199475598, rs76394784, rs398123292, rs77554925, rs199475655, rs62516109, rs5030853, rs62508578	RCV001318515 RCV001375888 RCV001375905 RCV001375899 RCV001375891 RCV001375906 RCV001375886 RCV001375898 RCV001375897 RCV001375885 RCV001375884 RCV001375890 RCV001378239 RCV001379708 RCV001377752 RCV001387432 RCV001388660 RCV001389170 RCV001543646 RCV002259580 RCV001543647 RCV000794431 RCV002259581 RCV001543650 RCV001386152 RCV003330433 RCV000412182 RCV001200017 RCV001194126 RCV001379649 RCV001543654 RCV000490440 RCV000586982 RCV000780556 RCV001543642 RCV001269310 RCV001386151 RCV001200004 RCV001040702 RCV001789753 RCV001543633 RCV002498473 RCV001543661 RCV002514541 RCV000267428 RCV002259582 RCV001234044 RCV000411856 RCV001375895 RCV001199985 RCV001199978 RCV002514542 RCV000169397 RCV000672118 RCV002509212 RCV000781680 RCV000306209 RCV002259583 RCV001269038 RCV000993603 RCV001857428 RCV002259584 RCV001239036 RCV000169306 RCV001789754 RCV001269277 RCV001269039 RCV000669467 RCV001269040 RCV000714571 RCV001789755 RCV000781679 RCV002509213 RCV000410586 RCV001269042 RCV002509214 RCV000671992 RCV000316500 RCV000632882 RCV000169248 RCV002513932 RCV001269037 RCV000672156 RCV001543634 RCV002509215 RCV000525956 RCV001269043 RCV000758128 RCV000672236 RCV000697659 RCV000665363 RCV001269318 RCV001093507 RCV002509216 RCV001380994 RCV000672448 RCV000993605 RCV001388783 RCV001789756 RCV000169393 RCV000169029 RCV000672561 RCV000668481 RCV000666206 RCV000632880 RCV000169511 RCV000993607 RCV001389300 RCV000664566 RCV000669099 RCV002509217 RCV000169163 RCV000666582 RCV000350592 RCV001543635 RCV000778351 RCV000993610 RCV001389299 RCV001199974 RCV001269036 RCV000803656 RCV000758100 RCV005606647 RCV001260324 RCV000993611 RCV001543636 RCV003315609 RCV002259586 RCV000411181 RCV000672919 RCV001389298 RCV003479001 RCV001857429 RCV001192889 RCV001269056 RCV000761308 RCV001857430 RCV000667411 RCV001854512 RCV000673537 RCV000763292 RCV000993612 RCV001580454 RCV000349567 RCV002259587 RCV001175457 RCV002509218 RCV001269055 RCV001199994 RCV001384288 RCV000811501 RCV000672629 RCV000531628 RCV000169559 RCV001209954 RCV000546355 RCV000674963 RCV000595460 RCV000169579 RCV000665892 RCV000801016 RCV001053534 RCV001375901 RCV004821975 RCV004821976 RCV001093509 RCV000632881 RCV000675156 RCV003479002 RCV006277708 RCV002513933 RCV000409986 RCV000153638 RCV000674841 RCV000535090 RCV002514543 RCV000993614 RCV000993615 RCV000375882 RCV000311018 RCV001057888 RCV001048510 RCV000560269 RCV003474692 RCV001238801 RCV000675155 RCV000993616 RCV000179282 RCV000810165 RCV001854513 RCV000534379 RCV000669836 RCV004821978 RCV000721182 RCV001778707 RCV001248714 RCV006277709 RCV000586383 RCV000412455 RCV000671079 RCV000169529 RCV000668474 RCV000674846 RCV001389168 RCV000632878 RCV000169180 RCV000411842 RCV001269063 RCV000169450 RCV000587795 RCV001269062 RCV001789758 RCV000173096 RCV000509208 RCV000806196 RCV001543657 RCV001543658 RCV000686246 RCV001071178 RCV000666489 RCV000578371 RCV000668775 RCV000411219 RCV000411734 RCV000671113 RCV000179283 RCV000664975 RCV001789759 RCV000705590 RCV001381395 RCV001789760 RCV001261644 RCV000673267 RCV001543660 RCV001200001 RCV001854514 RCV000411829 RCV000190611 RCV001857431 RCV000169464 RCV002259588 RCV002259589 RCV000797518 RCV001375889 RCV000672442 RCV006277710 RCV001857432 RCV002514545 RCV001215843 RCV000667600 RCV002259590 RCV000153635 RCV000576386 RCV000688713 RCV000169560 RCV000411222 RCV001543659 RCV002259591 RCV000340479 RCV000632879 RCV000673258 RCV000543254 RCV000758094 RCV000668140 RCV000169396 RCV000153634 RCV002259595 RCV000674327 RCV000179742 RCV006277711 RCV000668413 RCV000411173 RCV000410877 RCV000810805 RCV000758126 RCV000758096 RCV000281383 RCV000763291 RCV000153633 RCV004786371 RCV000153632 RCV003323400 RCV003479003 RCV000758132 RCV001200000 RCV000672603 RCV000672381 RCV000670910 RCV000664652 RCV000758121 RCV001375900 RCV000411640 RCV001789762 RCV000665406 RCV000672785 RCV001857433 RCV000632877 RCV003479004 RCV000993619 RCV000409987 RCV000169348 RCV000993620 RCV000411380 RCV002514547 RCV000169005 RCV000758133 RCV001543638 RCV000758134 RCV000758136 RCV000993621 RCV000993622 RCV000669088 RCV000993624 RCV000993625 RCV001543639 RCV001543640 RCV000672215 RCV000589029 RCV004821979 RCV003474693 RCV000668228 RCV006277712 RCV000552302 RCV001240978 RCV001269049 RCV001857434 RCV000672630 RCV000758098 RCV002259597 RCV000409567 RCV005406822 RCV000666332 RCV000797233 RCV000587503 RCV000797251 RCV001093511 RCV001269320 RCV000410321 RCV001854516 RCV002513935 RCV002515785 RCV001449883 RCV001449884 RCV001449885 RCV001506975 RCV001543643 RCV001543641 RCV001543644 RCV000106339 RCV000106341 RCV000106343 RCV000106344 RCV000106347 RCV000106349 RCV000106350 RCV000106351 RCV000106355 RCV000106356 RCV000106357 RCV000106358 RCV000106359 RCV000106361 RCV000106362 RCV000106364 RCV000106366 RCV000106367 RCV000106369 RCV000106370 RCV000106373 RCV000106377 RCV000106378 RCV000106379 RCV000106392 RCV000111461 RCV001789809 RCV001789810 RCV001789812 RCV001789813 RCV001789814 RCV001789815 RCV001789816 RCV001789817 RCV001789819 RCV001789820 RCV001789821 RCV001789822 RCV001789823 RCV001789826 RCV001789827 RCV001789829 RCV001806349 RCV001814820 RCV001897836 RCV002038848 RCV001984332 RCV000169088 RCV002014335 RCV001992017 RCV002031543 RCV001964349 RCV002019669 RCV002045342 RCV001920097 RCV002047826 RCV001895010 RCV001994069 RCV001990771 RCV002022060 RCV001939690 RCV001941587 RCV002005780 RCV001986924 RCV001970548 RCV002014138 RCV001972839 RCV001972840 RCV001888179 RCV001951415 RCV001912407 RCV002008996 RCV001986456 RCV001979309 RCV000000606 RCV000000607 RCV000000608 RCV000000609 RCV000000610 RCV000000611 RCV000000612 RCV000763293 RCV000000614 RCV000000616 RCV000000618 RCV000000619 RCV000000620 RCV000000621 RCV000000622 RCV000000623 RCV000150074 RCV000000625 RCV000000626 RCV000000627 RCV000000628 RCV000000629 RCV000000630 RCV000000631 RCV000000632 RCV000000633 RCV000000634 RCV000000635 RCV000000636 RCV000000638 RCV000000639 RCV000000640 RCV000000641 RCV000000642 RCV000000643 RCV000000644 RCV000000645 RCV000000646 RCV000675108 RCV000401074 RCV000169485 RCV000000650 RCV000000651 RCV000000652 RCV000000653 RCV000000654 RCV002259565 RCV000000657 RCV000000658 RCV000675074 RCV000150077 RCV000000661 RCV001200011 RCV000346024 RCV000346938 RCV000758111 RCV000000666 RCV000000667 RCV000000668 RCV000672628 RCV002260486 RCV002260489 RCV002260490 RCV002260493 RCV002260494 RCV002260495 RCV002260496 RCV002260498 RCV002260501 RCV002260502 RCV002260503 RCV002260504 RCV002271852 RCV002306556 RCV002306590 RCV002306609 RCV002309972 RCV002307944 RCV002308173 RCV002309032 RCV002306918 RCV002307020 RCV002307176 RCV002310216 RCV002310268 RCV002310281 RCV002308410 RCV002462822 RCV002462823 RCV002466902 RCV002509868 RCV002509869 RCV002509870 RCV002509871 RCV002509872 RCV002509874 RCV002509875 RCV002509877 RCV002509878 RCV002509879 RCV002509880 RCV000169094 RCV000169302 RCV003052722 RCV003062533 RCV003041167 RCV003041168 RCV003062537 RCV003058394 RCV003079148 RCV003061591 RCV003077826 RCV003088174 RCV000174462 RCV003112260 RCV000178065 RCV003116040 RCV002601709 RCV002630531 RCV001269057 RCV002000227 RCV000984289 RCV000190375 RCV000190377 RCV000190376 RCV002795207 RCV002857028 RCV002894650 RCV002890100 RCV002971501 RCV003014025 RCV003002885 RCV003031124 RCV003031372 RCV003034020 RCV003038667 RCV003041524 RCV000210788 RCV000210807 RCV000210792 RCV003131110 RCV003131118 RCV003230902 RCV003316901 RCV003316902 RCV003316904 RCV003324336 RCV003328729 RCV003388798 RCV003476584 RCV003476585 RCV003471650 RCV003471651 RCV003471652 RCV003471653 RCV003471654 RCV003471655 RCV003476586 RCV003476587 RCV003476589 RCV003479532 RCV003479533 RCV003479534 RCV003479535 RCV003479536 RCV003479537 RCV003479538 RCV003479539 RCV003479540 RCV003479541 RCV003479542 RCV003479543 RCV003496251 RCV003495484 RCV003496258 RCV003494676 RCV003494677 RCV003494812 RCV003495980 RCV003496691 RCV003598234 RCV003598381 RCV003598981 RCV003599024 RCV003599095 RCV003599346 RCV003597939 RCV003598634 RCV003988462 RCV004574419 RCV004574421 RCV004574422 RCV000410802 RCV000410563 RCV000410471 RCV000409716 RCV000410352 RCV000409667 RCV000410522 RCV000410899 RCV000409653 RCV000410526 RCV003479144 RCV000721176 RCV000515773 RCV000553622 RCV000548849 RCV000551613 RCV000590560 RCV000632883 RCV000666307 RCV000666644 RCV000674315 RCV000668256 RCV000674210 RCV000669075 RCV000672945 RCV000672872 RCV000667720 RCV000671178 RCV000666780 RCV000672959 RCV000669377 RCV000670987 RCV000668382 RCV000674358 RCV000666269 RCV000667958 RCV000667507 RCV000671688 RCV000666334 RCV000673497 RCV000672289 RCV000673567 RCV000672692 RCV000669560 RCV000667759 RCV000666841 RCV000674910 RCV000666601 RCV000664486 RCV000666071 RCV000673220 RCV000669188 RCV000699420 RCV000704392 RCV000709704 RCV000709702 RCV000721919 RCV003316802 RCV000758135 RCV000758129 RCV000758104 RCV000758130 RCV000758097 RCV000758119 RCV000758131 RCV000758127 RCV000758123 RCV000758113 RCV000758118 RCV000758110 RCV001093514 RCV000796569 RCV000850225 RCV000850224 RCV000850223 RCV000850222 RCV000850221 RCV000768445 RCV000851537 RCV000851536 RCV000792932 RCV000817803 RCV000823427 RCV000822749 RCV000805522 RCV000816461 RCV000988897 RCV000988898 RCV000988899 RCV000993643 RCV000993642 RCV000993641 RCV000993640 RCV000993602 RCV000993636 RCV000993635 RCV000993634 RCV000993633 RCV000993632 RCV000993631 RCV000993630 RCV000993628 RCV000993629 RCV000993627 RCV000993645 RCV000993644 RCV000993601 RCV000993599 RCV000993597 RCV000993596 RCV000993595 RCV000993594 RCV001062679 RCV001058418 RCV001048823 RCV001069317 RCV001061595 RCV001044810 RCV001093512 RCV001093524 RCV001093510 RCV001093523 RCV001093522 RCV001093520 RCV001093513 RCV001093506 RCV001093504 RCV001093521 RCV001093519 RCV001194128 RCV001375893 RCV001200010 RCV001199996 RCV001200009 RCV001200002 RCV001200016 RCV001199995 RCV001200015 RCV001199986 RCV001199977 RCV001199981 RCV001200003 RCV001200007 RCV001200008 RCV001199979 RCV001199984 RCV001199976 RCV001199975 RCV001200014 RCV001200013 RCV001199992 RCV001199993 RCV001200018 RCV001215227 RCV001221995 RCV001223829 RCV001215065 RCV001207037 RCV001210291 RCV001204516 RCV001236942 RCV001246796 RCV001245954 RCV001247911 RCV001247948 RCV001264614 RCV001269044 RCV001269045 RCV001269046 RCV001269048 RCV001269051 RCV001269054 RCV001269058 RCV001269059 RCV001269060 RCV001269061 RCV001269066 RCV001269067 RCV001269068 RCV001269070 RCV001269073 RCV001269074 RCV001269075 RCV001269076 RCV001269078 RCV001269079 RCV001269080 RCV001269081 RCV001269276 RCV001269311 RCV001269313 RCV001269316 RCV001269322 RCV001269337 RCV000150080 RCV000150078 RCV001201306 RCV000150075 RCV000150092 RCV000150091 RCV000178066 RCV000150089 RCV000412232 RCV000150088 RCV000150087 RCV000150086 RCV000721177 RCV000150085 RCV000150084 RCV000150083 RCV000150082 RCV000150081	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary hormone deficiency, combined, 2	Pathogenic	rs5030861	RCV004799176	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	Pathogenic	rs62516141, rs62508698	RCV003162523 RCV003162201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Propionic acidemia	Likely pathogenic	rs767453024	RCV004545164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypertension, primary, 1	Likely pathogenic; Pathogenic	rs199475679, rs5030847, rs5030850	RCV003987362 RCV003984797 RCV003984798	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RASopathy	Likely pathogenic	rs192592111	RCV004545029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BH4-RESPONSIVE HYPERPHENYLALANINEMIA/PHENYLKETONURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC PHENYLKETONURIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL PHENYLKETONURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CENTRAL HYPOVENTILATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD PHENYLKETONURIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAHYDROBIOPTERIN-RESPONSIVE HYPERPHENYLALANINEMIA/PHENYLKETONURIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAHYDROBIOPTERIN-RESPONSIVE PHENYLKETONURIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VARIANT PKU	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
6-pyruvoyl-tetrahydropterin synthase deficiency	6-pyruvoyl-tetrahydropterin synthase deficiency	BEFREE	3297709		★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	BEFREE	11096279, 1361100, 28540274, 30006287, 30159852, 8268925		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30037610		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29261014		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29516280, 31309339		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	1301947		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29261014		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30909100		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23352163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	31209396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	26759449		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	12782966		★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder Exstrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	2403827	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11453732, 16752224		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19440493, 30981841	Associate	★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	9260159	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15489140, 15781210, 16557573, 24845263, 9855008		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29496022		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28293165, 31477116		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	17178662, 17376889	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28496318		★☆☆☆☆ Found in Text Mining only
Classic phenylketonuria	Phenylketonuria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical galactosemia	Galactosemia	BEFREE	8774282		★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	CLINVAR_DG	10196714, 10234516, 10356314, 10356315, 10394930, 10408782, 10429004, 10471838, 10479481, 10495930, 10527663, 10541324, 10598814, 10679941, 10685924, 10693064, 10767174, 10947211, 10980574, 11051201, 11139255, 11142755, 11161825, 11161839, 11180595, 11214902, 11243094, 11244681, 11326337, 11385716, 1146119, 11461190, 11461196, 11486900, 11524738, 11588399, 11678552, 11696894, 11708866, 11914042, 11935335, 11999982, 12126628, 12173030, 12409276, 12501224, 12542580, 12554741, 12640344, 12644360, 12649065, 12655544, 12655546, 12655550, 12655551, 12655552, 12655553, 12655554, 12765842, 12836060, 12905706, 12971421, 1301187, 1301193, 1301200, 1301201, 1301942, 1301947, 1307609, 1312992, 1349566, 1349576, 1355066, 1358789, 1363786, 14654665, 14681498, 14722928, 14726806, 14741196, 15159646, 15171997, 15319459, 15459954, 15464430, 15503242, 15557004, 15589814, 1563085, 15793771, 15943553, 1601425, 16051511, 1609797, 16143554, 16165389, 16167124, 16176881, 16198137, 16253218, 16256386, 16290003, 1639423, 16504182, 16601866, 1671768, 1671810, 1671881, 1672294, 16755493, 16765994, 1679030, 1682234, 1682235, 16879198, 1709636, 17096675, 17408607, 17502162, 17513426, 1769645, 17924342, 17935162, 18247293, 18294361, 18299955, 18346471, 18394115, 18493213, 18538294, 18590700, 18798839, 18937047, 18956252, 18985011, 19015950, 19036622, 19062537, 19099685, 19147918, 19292873, 19394257, 19444284, 19609714, 1971144, 1971147, 1975096, 1975559, 1978553, 19786003, 19915519, 19948162, 1997387, 20017307, 20063067, 20082265, 20123475, 2014036, 20140859, 20179079, 20187763, 20188615, 20217238, 2035532, 2044609, 20457534, 2063869, 2071149, 20920871, 20937381, 21147011, 21154324, 21228398, 21307867, 21445337, 21462123, 21527427, 21811977, 21820508, 21871829, 21890392, 21953985, 22112818, 22300847, 22330942, 22333022, 22388642, 22513348, 22526846, 22698810, 22763404, 22841515, 22921945, 23062575, 23074961, 2309142, 23220018, 23225039, 23271928, 23357515, 23430547, 23430918, 23500595, 23514811, 23559577, 23672685, 23690520, 23716935, 23764561, 23792259, 23842451, 23856132, 23932990, 23942198, 24048906, 24078561, 24130151, 24190797, 24296287, 24301756, 24350308, 24368688, 24401910, 24510568, 24661517, 24667082, 24705691, 24765287, 24789341, 24882081, 24939588, 24941924, 25085675, 25087612, 25155776, 25333069, 25456745, 25525159, 25550961, 25551302, 25563416, 25596310, 2564729, 2574002, 2574153, 25750018, 25757997, 25863075, 25882749, 25894915, 25920592, 25952249, 2606484, 26206375, 26210745, 26322415, 26351554, 26413448, 26481238, 26503515, 26542770, 26589311, 26600521, 26655635, 26666653, 26701937, 26803807, 26982749, 27121329, 27175728, 27243974, 27264808, 27308838, 27413125, 27469133, 27620137, 27682710, 2816939, 28174686, 2840952, 28653649, 28754886, 28771436, 2884570, 28982351, 29144512, 29176022, 29390883, 29499199, 29997390, 30050108, 30311390, 30367646, 30389586, 30747360, 3615198, 7545869, 7556322, 7581408, 7609462, 7668259, 7707686, 7726156, 7741023, 7766951, 7766957, 7833954, 7844887, 7860062, 7913581, 7914195, 7915167, 7981714, 8019568, 8051931, 8068076, 8088845, 8095248, 8097262, 8097423, 8098245, 8116675, 8222245, 8268925, 8304187, 8320703, 8364593, 8406445, 8533759, 8535444, 8535445, 8556304, 8592329, 8632937, 8659548, 8682503, 8739972, 8807319, 8807331, 8825928, 8829656, 8830172, 8831077, 8860005, 8889590, 8981952, 8990013, 8990021, 9012412, 9048935, 9284280, 9298832, 9359039, 9391881, 9399896, 9429153, 9450897, 9452061, 9452062, 9521426, 9540801, 9575658, 9634518, 9642259, 9781015, 9792411, 9799096, 9860305, 9949232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical phenylketonuria	Phenylketonuria	BEFREE	10200057, 10429004, 10445321, 10471838, 10472529, 10479481, 10875932, 10980574, 11139255, 11142755, 11180595, 11214902, 11350190, 11434725, 11461196, 11708866, 11999982, 12200907, 12409276, 12542580, 12640344, 12655544, 12655546, 12655548, 1301187, 1301202, 1301942, 1301947, 1349566, 1349576, 1358789, 1363786, 14601136, 14654665, 14728985, 15159646, 15319459, 15556637, 15936235, 15963939, 16456253, 16504182, 16601866, 1671810, 1672290, 1674714, 1679029, 1679030, 1682495, 16875683, 16879198, 16917891, 1709636, 17502162, 1769645, 1867197, 18773304, 18985011, 19036622, 1915502, 19444284, 1959535, 1975559, 1997387, 1998345, 2014036, 2014802, 20187763, 20188615, 20492352, 2063869, 20667834, 20937381, 21107727, 21147011, 21322099, 21890392, 2246858, 22763404, 22841515, 23532445, 23559577, 23792259, 24048906, 24130151, 24296287, 24939588, 25596310, 2563633, 2563988, 2569732, 2569949, 2576129, 2577230, 25920592, 25990862, 2622813, 26666653, 26822703, 27786189, 2816939, 28274234, 28318283, 28540274, 28540433, 2857902, 28624210, 28676969, 2868252, 2878985, 2883110, 2896156, 28982351, 2900886, 29176022, 29316886, 29390883, 29451781, 29473999, 29514280, 29654578, 29731766, 29749107, 2992840, 30037505, 3018584, 30284526, 30287685, 30389586, 30578407, 30674554, 30747360, 31102715, 31295388, 31482689, 31636599, 3615198, 3862128, 486619, 496890, 6142937, 6316140, 6547271, 6796764, 7557973, 7584088, 7657610, 7707686, 7711448, 7726156, 7766944, 7766948, 7766956, 7833927, 7860062, 7903270, 7913865, 7959699, 7967476, 8095248, 8098245, 8100164, 8105144, 8188310, 8318990, 8807319, 8808316, 8828600, 8828601, 8828602, 8829656, 8830172, 8860005, 8892014, 8929956, 8946176, 9012412, 9048935, 9101291, 9272154, 9323556, 9391881, 9399896, 9427141, 9556654, 9634518, 9799096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical phenylketonuria	Phenylketonuria	UNIPROT_DG	10200057, 10679941, 11180595, 11326337, 11385716, 11461196, 11935335, 12501224, 1355066, 1358789, 1363837, 1363838, 1671810, 1672290, 1672294, 1679030, 1709636, 18538294, 1975559, 2014802, 22513348, 22526846, 23792259, 2564729, 2615649, 2840952, 7833954, 8068076, 8088845, 8098245, 8406445, 8889583, 8889590, 9048935, 9101291, 9452061, 9452062, 9521426, 9600453, 9792407, 9792411, 9852673, 9950317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical phenylketonuria	Phenylketonuria	GENOMICS_ENGLAND_DG	1997387, 24357685, 24816252, 29579554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical phenylketonuria	Phenylketonuria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complement Component 3 Deficiency Autosomal Recessive	Complement component deficiency	Pubtator	2212005	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	31259535		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	11328945, 27448984, 29435739, 29444773		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	28039187, 29285766, 30926248		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	10191298	Associate	★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	26669670		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	7815439		★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	7477014		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	11355791		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	19268543, 22414661		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31250285		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	30586694		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	31980491	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	7690887		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	7690887		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	23298310, 28188237		★☆☆☆☆ Found in Text Mining only
Familial pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17318011		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	BEFREE	11678552, 8774282		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	24597656		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16968971		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	22414661		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30527996, 31278050		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	30190155		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	23093777		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	3167203	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	31482689		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	31482689	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	8649652		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	10356315, 10390625, 10495930, 10527663, 10693064, 10720436, 10980574, 11043162, 11065346, 11096279, 11142755, 11161839, 1127497, 11284432, 11385716, 11461196, 11694255, 11708866, 11914042, 12409276, 12618080, 12640344, 12655545, 1301187, 1301200, 1301201, 1301942, 14601136, 14654659, 14654665, 14681498, 14722928, 15124827, 15346830, 15464430, 15503242, 15556637, 16183315, 16198137, 16601866, 1674714, 16917891, 17096675, 17935162, 18321666, 18346471, 1867197, 18937047, 19016342, 19292873, 19513811, 1959225, 1975559, 19946181, 2044609, 21322099, 21871828, 21871829, 21890392, 22014474, 2220810, 22607939, 23357515, 23792259, 24051226, 24296287, 25456745, 2574002, 26481238, 26822703, 28389235, 28645531, 28653649, 28794131, 28915855, 29032371, 29454001, 29499199, 29520738, 29997390, 30037505, 30201326, 30287685, 30667134, 30887117, 31208052, 31332730, 31551819, 7628072, 7766944, 7766950, 7766959, 7959699, 7967476, 7981714, 8081944, 8097262, 8178819, 8268925, 8375656, 8444221, 8487271, 8632937, 8659548, 8807319, 8892014, 8929956, 9380432, 9399896, 9429153, 9450907, 9521426, 9562969, 9634518, 9744478, 9860305		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	CLINVAR_DG	10479481, 12501224, 16198137, 17096675, 17935162, 18294361, 18299955, 19292873, 21147011, 22698810, 23357515, 23430547, 23500595, 23764561, 23792259, 24350308, 24368688, 24401910, 25596310, 26503515, 26666653, 8533759, 8659548, 9298832, 9634518		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Phenylketonuric	Hyperphenylalaninemia	BEFREE	28915855, 3297709		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Phenylketonuric	Hyperphenylalaninemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Pku Mild	Hyperphenylalaninemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	34704413	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	10330357	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27816994, 29279530, 29521190, 30285736		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	24627569	Associate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	20117135, 22713173, 23298310, 23592887, 23804254, 24446489, 25785937, 27448984, 27613157, 28100891, 28188237, 28473326, 28680564, 29130366, 29254882, 29261014, 29279530, 29285766, 29444773, 30134121, 30807241, 30926248, 31368254, 31533472		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	17318011, 22194859, 24446489, 28282243, 29938590, 31847126		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	11405341, 15503242, 18596920, 28982351, 30266197, 30311390, 30864096, 7628072		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21555948, 23898865, 31118288, 7149708, 7628072		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23898865, 30678510, 36624928, 38105703	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis Follicularis	Keratosis Follicularis	BEFREE	7963653		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28680564		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	23241241	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10536003, 12893759, 3048438, 38192186	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18615627, 20606363, 20664061, 30452397, 3048438, 3167203, 32362632	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	38203665	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	31980491	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29285766, 29687288, 30762947, 31740961		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28818881		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	7902323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16752224		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	7690887		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15489140, 15781210, 16557573, 24845263, 9855008		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22052564, 28285859, 29421754, 29491628, 30195131, 31818582, 7666479		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	12640344, 21967857		★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple Syrup Urine Disease	BEFREE	10880718		★☆☆☆☆ Found in Text Mining only
Maternal phenylketonuria	Maternal Phenylketonuria	Orphanet			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29473999		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29473999	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31250285		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	11914042, 12644360, 28049254		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	31331350		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	31118288, 7149708, 7628072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	12777691, 16198137, 2014036, 24301756, 26883219, 28132689, 29154227, 29499199, 31102715, 31103398, 31636599		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	1127497, 31331350		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild hyperphenylalaninemia	Hyperphenylalaninemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild phenylketonuria	Phenylketonuria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30678510	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	475411		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20377918	Inhibit	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20664061, 32362632	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11948486, 31078851, 31758970, 31820854		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28598261, 30715799		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10493307		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30201326		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30334129		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30037610		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	31368254		★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Phenylketonuria, Maternal	Phenylketonuria	BEFREE	10429004, 1442884, 14654659, 22951387, 2622813, 29085781, 30416967, 3116335, 8659548		★☆☆☆☆ Found in Text Mining only
Phenylketonuria, Maternal	Phenylketonuria	ORPHANET_DG	1915502		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	10200057, 10203136, 10390625, 10407053, 10408782, 10429004, 10445321, 10471838, 10472529, 10479481, 10495930, 10527663, 10570906, 10679941, 10720436, 10875932, 10980574, 11139255, 11142755, 11180595, 11214902, 11273855, 11317360, 11385716, 11405341, 11588399, 11999982, 12208136, 12542580, 12640344, 12649065, 12655544, 12655546, 12655548, 12655549, 12655550, 12655551, 12655552, 12714182, 12765842, 12777691, 1301187, 1301200, 1301202, 1301942, 1301947, 1326329, 1349566, 1358789, 1361100, 1363786, 14601136, 14654659, 14654665, 14681498, 14726806, 14728985, 15181195, 15459954, 15503242, 15556637, 15604632, 15936235, 15946242, 15963939, 16143554, 16165390, 16256386, 1639423, 16456253, 16504182, 16601866, 1671768, 1671770, 1671810, 1672290, 1672294, 1674714, 16755493, 16765994, 1679030, 1682235, 1682495, 16875683, 16879198, 16917891, 1709636, 17221866, 17408607, 17443661, 17502162, 1769645, 17924342, 17935162, 18184144, 18299955, 18596920, 18773304, 18937293, 18955797, 18985011, 1915502, 19444284, 1959225, 1959535, 19629656, 1968617, 1971144, 1975096, 1975559, 1978553, 1979309, 1997387, 1998345, 2014036, 2014802, 20151201, 20187763, 20188615, 20492352, 20667834, 2071149, 20830319, 20920871, 20937381, 21107727, 21147011, 21307867, 21527427, 21871828, 21871829, 21890392, 21937252, 21953985, 22112818, 2220810, 22246293, 22300847, 22388642, 2246858, 22572109, 2268974, 22763404, 22808937, 22841515, 23339306, 23457044, 23532445, 23559577, 23726812, 23856132, 23898865, 24048906, 24130151, 24301756, 24705691, 24939588, 25151978, 25296915, 25596310, 2563633, 2563988, 2564839, 2569049, 2569271, 2569272, 2569949, 2577230, 25894915, 2591403, 25920592, 2598484, 25990862, 2606484, 2622813, 26322415, 26503515, 26600521, 26666653, 26803807, 26822703, 26919687, 27121329, 27447460, 27623981, 27761676, 27786189, 2816939, 28274234, 28318283, 2840952, 28520731, 28540274, 28540433, 28624210, 28645531, 28653649, 28676969, 2868252, 28697448, 28768147, 2878985, 2883110, 2884570, 28915855, 2893918, 2896157, 28982351, 2900886, 29025426, 29124015, 29176022, 29316886, 29353259, 29390883, 29413232, 29451781, 29473999, 29596327, 29654578, 29684050, 29731766, 29749107, 29777816, 29909188, 2992840, 29997390, 30037505, 30050108, 30055544, 30159852, 3018584, 30201326, 30266197, 30287685, 30297904, 30375370, 30389586, 30504004, 30578407, 30612563, 30648773, 30668579, 30674554, 30747360, 30887117, 30963030, 31038957, 31102715, 31103398, 31118288, 31208052, 31208951, 31295388, 31331350, 31382905, 31413878, 31471952, 31482689, 31541188, 31551819, 31615158, 31623983, 31636599, 31648944, 3455778, 3856322, 3862128, 486619, 496890, 6142937, 6693127, 7149708, 7557973, 7657610, 7711448, 7726156, 7766944, 7766949, 7814013, 7833927, 7834276, 7860062, 7899279, 7903270, 7913864, 7913865, 7959699, 7967476, 8068076, 8081944, 8095248, 8097262, 8098245, 8100164, 8104860, 8105144, 8116675, 8188310, 8318990, 8406445, 8444221, 8487271, 8528673, 8556304, 8632937, 8659548, 8807319, 8808316, 8825461, 8828601, 8829656, 8831077, 8860005, 8892014, 8946176, 8965095, 8981952, 9012412, 9048935, 9101291, 914277, 9156326, 9272154, 9323556, 9359039, 9391881, 9399896, 9450182, 9556654, 9598724, 9634518, 9700593, 9799096, 9860305		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	LHGDN	12655552, 15300621, 17627389, 17630668, 18299955, 18387838		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	GENOMICS_ENGLAND_DG	24816252		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	27667010	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	PSYGENET_DG	19268543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	19268543	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	22713173, 25785937, 28473326, 28680564, 29130366, 29261014, 29279530, 29444773, 30807241		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28286190, 31980491, 36600187	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension associated with congenital heart disease	Pulmonary Arterial Hypertension Associated With Congenital Heart Disease	BEFREE	30632656		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension associated with connective tissue disease	Pulmonary Arterial Hypertension Associated With Connective Tissue Disease	BEFREE	28671485		★☆☆☆☆ Found in Text Mining only
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT	Pulmonary venoocclusive disease	BEFREE	27587546, 30285736, 31202500		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12210276, 18937293, 19268543, 22414661, 24606907, 29454221, 8357034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18937293, 19268543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18937293	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	29687288		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	36600187	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21871828, 25296915, 8384712		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	7902323		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10493307		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20198579		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	27908301, 28039187, 28671485, 29687288, 30762947, 31183306, 31280357		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	2403827	Associate	★☆☆☆☆ Found in Text Mining only
Transient hyperphenylalaninemia	Transient hyperphenylalaninemia	BEFREE	31355225		★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid atresia	Pubtator	28286190	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37584526	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	1959929		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	31847126		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	8204666		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	8204666		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	16195237		★☆☆☆☆ Found in Text Mining only