ABCA4 (ATP binding cassette subfamily A member 4)

Gene

• Entrez ID: 24
• Gene name: ATP binding cassette subfamily A member 4
• Gene symbol: ABCA4
• Synonyms (NCBI Gene): ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
• Chromosome: 1
• Chromosome location: 1p22.1
• Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct s

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1047376	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1762111	A>G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1800548	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1800552	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1800553	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, missense variant
rs1800555	C>T	Likely-benign, risk-factor, benign-likely-benign	Coding sequence variant, missense variant
rs1800728	A>G	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Intron variant
rs1801269	C>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1801466	T>A	Likely-benign, benign, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1801581	C>A,T	Likely-benign, benign, likely-pathogenic, pathogenic, not-provided, risk-factor	Coding sequence variant, missense variant
rs28938473	G>A	Likely-pathogenic, likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs41292677	C>G	Likely-pathogenic, likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs55732384	G>A	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, missense variant
rs56357060	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs58331765	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs61748520	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs61748526	A>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748529	T>C,G	Uncertain-significance, not-provided, pathogenic	Missense variant, coding sequence variant
rs61748534	T>A,C	Pathogenic, not-provided	Splice acceptor variant
rs61748535	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61748536	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs61748537	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61748538	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748539	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs61748545	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61748548	A>C,G	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs61748550	G>A	Pathogenic	Stop gained, coding sequence variant
rs61748552	G>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748556	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748558	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61748559	C>G,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749409	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61749410	C>T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749412	C>A,G,T	Not-provided, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61749414	G>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs61749417	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61749420	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61749422	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs61749423	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs61749427	C>A,G	Pathogenic, not-provided	Splice donor variant
rs61749428	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749429	C>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749433	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61749437	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs61749438	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61749440	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61749441	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61749448	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61749450	G>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749451	G>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749454	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61749455	C>A,G,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61749456	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61749457	T>C	Pathogenic	Missense variant, coding sequence variant
rs61749459	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61750061	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61750064	->AC	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61750065	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61750120	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750121	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750126	A>C	Conflicting-interpretations-of-pathogenicity, pathogenic, not-provided, likely-benign, benign	Missense variant, coding sequence variant
rs61750130	G>A	Pathogenic-likely-pathogenic, pathogenic, risk-factor	Missense variant, coding sequence variant
rs61750135	A>G	Pathogenic, other	Missense variant, coding sequence variant
rs61750137	G>A	Pathogenic	Stop gained, coding sequence variant
rs61750138	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs61750141	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750142	C>T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750145	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750146	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750147	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750152	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750155	G>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750159	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750200	G>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750202	C>G,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750560	A>C	Pathogenic	Missense variant, coding sequence variant
rs61750562	A>G,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs61750563	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61750564	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750566	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750569	CCACCAGCCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750571	C>T	Pathogenic	Stop gained, coding sequence variant
rs61750633	A>G	Uncertain-significance, not-provided, likely-pathogenic	Intron variant
rs61750638	C>A,T	Not-provided, pathogenic	Splice donor variant
rs61750639	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750641	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750643	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750644	T>A	Pathogenic	Stop gained, coding sequence variant
rs61750645	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant, synonymous variant
rs61750646	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61750648	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750654	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs61750658	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61751262	C>T	Pathogenic	Intron variant
rs61751263	C>T	Pathogenic, not-provided	Splice acceptor variant
rs61751374	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751377	C>T	Pathogenic	Splice donor variant
rs61751383	G>A	Pathogenic	Stop gained, coding sequence variant
rs61751384	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751385	A>C	Not-provided, pathogenic	Splice donor variant
rs61751386	T>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61751388	C>A	Pathogenic, not-provided	Splice donor variant
rs61751389	C>-	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61751392	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751393	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751394	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61751395	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751397	G>A	Pathogenic	Stop gained, coding sequence variant
rs61751398	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61751399	C>T	Pathogenic-likely-pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751400	C>T	Not-provided, pathogenic	Splice donor variant
rs61751401	GT>-,GTGT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61751402	C>T	Pathogenic	Missense variant, coding sequence variant
rs61751403	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs61751404	G>A,C	Pathogenic, likely-pathogenic, other	Missense variant, coding sequence variant
rs61751405	A>C,G	Not-provided, pathogenic	Splice donor variant
rs61751406	G>T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61751407	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic, not-provided	Intron variant
rs61751408	G>A	Pathogenic	Missense variant, coding sequence variant
rs61751409	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs61751410	C>T	Pathogenic	Stop gained, coding sequence variant
rs61751412	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751413	C>T	Pathogenic	Splice donor variant
rs61751418	C>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs61751420	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61752390	A>C,G,T	Not-provided, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs61752391	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61752398	A>C,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61752401	C>T	Pathogenic	Splice donor variant
rs61752406	C>T	Pathogenic	Stop gained, coding sequence variant
rs61752410	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61752411	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs61752416	T>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61752417	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61752419	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61752423	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61752424	G>A	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs61752425	C>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61752427	G>A	Pathogenic	Stop gained, coding sequence variant
rs61752435	T>C	Pathogenic	Splice acceptor variant
rs61752438	T>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs61752439	C>G,T	Not-provided, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61753017	G>A,C	Likely-benign, not-provided, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs61753019	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs61753020	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753021	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753028	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753030	C>A,G,T	Not-provided, pathogenic	Splice donor variant
rs61753033	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61753034	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61753037	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753038	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs61753043	G>C	Not-provided, pathogenic	Splice donor variant
rs61753045	G>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61753046	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61754024	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61754030	T>C	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs61754044	G>A	Pathogenic, likely-pathogenic	Intron variant
rs62642560	AG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs62642562	G>A,C,T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs62642564	C>G,T	Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic-likely-pathogenic, likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs62642565	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62642573	C>A,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs62642574	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs62642575	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs62642576	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs62645944	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs62645946	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62645948	->T	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs62645952	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62645957	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62645958	C>T	Likely-benign, not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62646860	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs62646861	G>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62646862	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs62646863	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs62646872	GCAGATGGCAACCAC>-	Not-provided, pathogenic	Inframe deletion, coding sequence variant
rs62654395	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs62654397	G>A,C	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs63749055	GCACCGTCTTTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749083	ATAGTTATTGTCTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs76157638	C>G,T	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs112005636	A>G,T	Likely-pathogenic	Splice donor variant
rs113106943	C>T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113698006	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs114518437	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs117400594	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121909204	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909205	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121909206	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909207	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138475920	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs138682163	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs140482171	C>T	Not-provided, likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs141823837	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs142253670	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142506651	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144310835	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145483148	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145525174	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145961131	G>A	Pathogenic	Coding sequence variant, stop gained
rs146786552	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147884766	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs148460146	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs149071415	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs150774447	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs187953772	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs187965758	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs188775667	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs190540405	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs200692438	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs200967229	C>T	Pathogenic	Splice donor variant
rs201117452	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201223321	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs201471607	T>C	Pathogenic	Missense variant, coding sequence variant
rs201738997	T>C	Pathogenic	Initiator codon variant, missense variant
rs201855602	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs281865377	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs281865382	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs281865402	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs367839100	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs367857935	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs368846708	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs371489809	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs374343397	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs376925793	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs377311148	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs387906385	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs387906387	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs387906388	GAGAAACCCTTAGACG>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123339	T>C	Pathogenic	Splice acceptor variant
rs527236129	T>A	Pathogenic	Coding sequence variant, missense variant
rs552517556	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs568792949	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs575453437	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs745654673	C>T	Likely-pathogenic	Splice donor variant
rs746250336	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs746252741	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs746541266	G>A	Pathogenic	Stop gained, coding sequence variant
rs746566873	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs747950242	CAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs748357067	C>T	Pathogenic	Stop gained, coding sequence variant
rs748706582	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs749526785	GCCCCAGGGCCAACT>-	Uncertain-significance, likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Intron variant
rs752147871	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs752160946	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752786160	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs755733328	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs756840095	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs757557272	T>A,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs758835368	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs759672616	T>C	Pathogenic, uncertain-significance	Intron variant
rs760549861	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs760790294	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs761188244	G>A	Likely-pathogenic	Intron variant
rs761209432	C>T	Pathogenic	Coding sequence variant, stop gained
rs762150575	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs764759172	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs765429911	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs765707028	C>G	Pathogenic	Splice donor variant
rs766570903	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs767729255	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs768278935	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs773599043	C>A,T	Pathogenic	Splice donor variant
rs774475956	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs776757706	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs777415466	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs778234759	C>T	Likely-pathogenic	Intron variant
rs778747291	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs778908435	C>G,T	Pathogenic	Splice acceptor variant
rs779426136	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs779466403	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs779743222	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs781254854	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs786205445	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786205446	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205447	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs793888523	->TTTC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794726979	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs794727531	G>A	Pathogenic	Coding sequence variant, stop gained
rs794727903	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223338	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs865990202	C>T	Pathogenic	Coding sequence variant, stop gained
rs869312184	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs869320785	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs878853396	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs878853397	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039299	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039882	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886041554	C>A	Pathogenic	Initiator codon variant, missense variant
rs886041951	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886042034	T>A	Pathogenic	Splice acceptor variant
rs886042319	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042320	AATTCTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042904	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044148	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044719	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044720	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044721	A>G	Pathogenic	Splice donor variant
rs886044722	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044725	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044726	T>C	Pathogenic	Splice acceptor variant
rs886044727	G>T	Pathogenic	Coding sequence variant, stop gained
rs886044728	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044730	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044731	T>A	Pathogenic	Coding sequence variant, stop gained
rs886044732	A>C	Pathogenic	Coding sequence variant, missense variant
rs886044735	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044736	->TGCA	Pathogenic	Frameshift variant, coding sequence variant
rs886044737	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs886044738	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044740	C>G,T	Pathogenic	Splice acceptor variant
rs886044741	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886044742	C>A	Pathogenic	Coding sequence variant, stop gained
rs886044745	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044746	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886044747	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044750	C>T	Pathogenic	Splice donor variant
rs886044751	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886044752	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044753	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044755	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044756	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044758	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044759	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044760	TG>CT	Pathogenic	Splice acceptor variant, intron variant
rs886044761	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044762	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044763	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs886044764	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886046564	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs911580078	C>T	Pathogenic	Coding sequence variant, stop gained
rs951379922	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1012017728	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517700	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517701	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517869	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057518767	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518955	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057520212	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520213	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793004	C>G	Likely-pathogenic	Intron variant
rs1064793005	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064793006	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793007	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793008	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793009	A>T	Likely-pathogenic	Intron variant
rs1064793010	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793011	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793012	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793013	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs1064793014	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793015	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797091	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797113	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs1085307968	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691262	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691351	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691612	A>C,T	Pathogenic	Stop gained, coding sequence variant
rs1161119501	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1232476760	C>A,T	Likely-pathogenic	Splice donor variant
rs1267585230	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1297857869	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1356104318	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1373168392	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1401924846	C>T	Pathogenic	Splice acceptor variant
rs1435203678	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1437993640	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1457937638	C>A,T	Likely-pathogenic	Intron variant
rs1553186509	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553186896	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553187160	C>A	Pathogenic	Splice acceptor variant
rs1553187162	T>-	Pathogenic	Splice acceptor variant
rs1553187228	TGTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553187939	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553188071	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553188588	C>T	Likely-pathogenic	Intron variant
rs1553188682	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553188916	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553189507	C>T	Likely-pathogenic	Splice acceptor variant
rs1553190559	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553190664	A>C	Pathogenic	Coding sequence variant, stop gained
rs1553192432	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553192682	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553192715	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553192726	G>T	Pathogenic	Coding sequence variant, stop gained
rs1553193813	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1553195472	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553196583	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557767754	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557783989	A>G	Pathogenic	Splice donor variant
rs1557787473	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1557787559	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557787756	G>A	Pathogenic	Stop gained, coding sequence variant
rs1570367144	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570367230	A>T	Pathogenic	Stop gained, coding sequence variant
rs1570370826	CAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1570370929	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570373408	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570377861	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570380080	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570382663	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570386206	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570387558	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570393727	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570393848	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570394071	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570407032	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570433137	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571239957	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571241930	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571241947	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571242070	C>T	Pathogenic	Coding sequence variant, missense variant
rs1571243037	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571245809	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571250020	CGGCCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1571252997	C>G	Pathogenic	Coding sequence variant, missense variant
rs1571253050	ACAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571256775	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571257754	GTAAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571257937	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1571258440	AAAAAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1571264551	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571264574	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571265125	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571265241	GG>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017969	hsa-miR-335-5p	Microarray	18185580
MIRT757923	hsa-miR-125a-3p	CLIP-seq
MIRT757924	hsa-miR-1273e	CLIP-seq
MIRT757925	hsa-miR-203	CLIP-seq
MIRT757926	hsa-miR-3934	CLIP-seq
MIRT757927	hsa-miR-4686	CLIP-seq
MIRT757928	hsa-miR-4712-3p	CLIP-seq
MIRT757929	hsa-miR-4792	CLIP-seq
MIRT757930	hsa-miR-764	CLIP-seq
MIRT757923	hsa-miR-125a-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001523	Process	Retinoid metabolic process	ISS
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0003924	Function	GTPase activity	ISS
GO:0005501	Function	Retinoid binding	ISS
GO:0005502	Function	11-cis retinal binding	IDA	23144455
GO:0005503	Function	All-trans retinal binding	IDA	20404325, 29847635, 33375396
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	9054934
GO:0005548	Function	Phospholipid transporter activity	IBA
GO:0005548	Function	Phospholipid transporter activity	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	24097981
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006649	Process	Phospholipid transfer to membrane	IEA
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9425888
GO:0007603	Process	Phototransduction, visible light	TAS	9202155
GO:0015850	Process	Organic hydroxy compound transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9054934
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	29847635, 33375396
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	ISS
GO:0031410	Component	Cytoplasmic vesicle	IDA	29847635, 33375396
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034632	Function	Retinol transmembrane transporter activity	TAS
GO:0034633	Process	Retinol transport	IEA
GO:0042574	Process	Retinal metabolic process	IDA	29847635, 33375396
GO:0042574	Process	Retinal metabolic process	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS	9054934
GO:0042995	Component	Cell projection	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0045332	Process	Phospholipid translocation	IDA	24097981
GO:0045332	Process	Phospholipid translocation	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IDA	24097981
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0120202	Component	Rod photoreceptor disc membrane	ISS
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IBA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140327	Function	Flippase activity	IDA	24097981
GO:0140347	Function	N-retinylidene-phosphatidylethanolamine flippase activity	IEA
GO:0140347	Function	N-retinylidene-phosphatidylethanolamine flippase activity	ISS
GO:0140359	Function	ABC-type transporter activity	IEA

Other IDs

• MIM: 601691
• HGNC: 34
• e!Ensembl: ENSG00000198691

Protein

• UniProt ID: P78363
• Protein name: Retinal-specific phospholipid-transporting ATPase ABCA4 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM proteinv) (RmP) (Retinal-specific ATP-binding cassette transporter) (Stargardt disease protein)
• Protein function: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of
• PDB: 7E7I, 7E7O, 7E7Q, 7LKP, 7LKZ, 7M1P, 7M1Q, 8F5B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12698	ABC2_membrane_3	607 → 856		Family
  PF00005	ABC_tran	946 → 1090	ABC transporter	Domain
  PF12698	ABC2_membrane_3	1595 → 1895		Family
  PF00005	ABC_tran	1955 → 2099	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
• Sequence:

  MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKA
  MPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQ
  HLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYL
  LINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVRYALCSLSQGTLQWI
  EDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT
  RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIY
  SYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE
  LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILN
  FLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALS
  LLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED
  FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMV
  LAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIM
  HGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYFTLYLPHILCF
  AWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM
  QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL
  TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITA
  FLGHNGAGKTTTLSILTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTV
  AEHMLFYAQLKGKSQEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDA
  KVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYC
  SGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV
  LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS
  SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVC
  SPGAPAAHPEGQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLP
  ATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGF
  GNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP
  ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGI
  SIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFN
  NKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA
  VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAG
  LVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL
  FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAR
  FGEEHSANPFHWDLIGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDD
  VAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTT
  TFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLR
  GVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG
  MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSK
  FGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQ
  LLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD

• Sequence length: 2273

Pathways

KEGG:

ABC transporters

Reactome:

Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
ABC-family proteins mediated transport

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
ABCA4-related disorder	Likely pathogenic; Pathogenic	rs150774447, rs61748558, rs61749409, rs61749410, rs61749420, rs62654397, rs61749423, rs61749429, rs61751395, rs61749433, rs61749446, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs1801269, rs61750138, rs61750142, rs61750145, rs61750146, rs61751402, rs62642574, rs61750153, rs61750155, rs61751404, rs61753023, rs61750571, rs62642562, rs61751407, rs61751389, rs61750641, rs61753038, rs61748520, rs61750653, rs61750654, rs61753046, rs62645958, rs62645944, rs2101048569, rs953605928, rs1571257937, rs148460146, rs1166357291, rs869312184, rs869320785, rs76157638, rs1800553, rs61751374, rs61750130, rs61751383, rs61753033, rs142253670, rs760549861, rs568792949, rs62642573, rs746566873, rs61752398, rs201855602, rs761867791, rs387906385, rs752786160, rs141823837, rs1557767754, rs367839100, rs529598960, rs763911476, rs1385119665, rs61750156, rs1659465707, rs61750120, rs1800728	RCV004529882 RCV000778263 RCV001849310 RCV000778262 RCV004732662 RCV000779008 RCV004529883 RCV004732663 RCV004724803 RCV004732664 RCV004732665 RCV004529885 RCV004732666 RCV004529887 RCV002255094 RCV004732669 RCV000779010 RCV004732670 RCV004529889 RCV000779005 RCV004732671 RCV004732672 RCV000779003 RCV004529890 RCV005867895 RCV004732673 RCV004732674 RCV005867896 RCV004529892 RCV005867897 RCV000778997 RCV003985075 RCV004529893 RCV004732675 RCV004529894 RCV004732676 RCV004724804 RCV004529895 RCV000779009 RCV004529896 RCV005867003 RCV004538685 RCV005868487 RCV004732701 RCV005870044 RCV000785052 RCV004529387 RCV004532312 RCV000273328 RCV000778259 RCV000778258 RCV004528093 RCV005867731 RCV000778996 RCV004732802 RCV004732801 RCV000778257 RCV004532828 RCV004732800 RCV005869224 RCV001099678 RCV004732866 RCV000779006 RCV004529602 RCV000785053 RCV004733063 RCV004536128 RCV004733149 RCV004733152 RCV004733150 RCV004733186 RCV004537308 RCV004732655	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ABCA4-related retinopathy	Pathogenic; Likely pathogenic	rs61748550, rs61748559, rs61749409, rs61749412, rs61752401, rs61749420, rs201738997, rs62654397, rs61750202, rs62645946, rs1801269, rs61752428, rs61750145, rs62646861, rs61750152, rs62645957, rs61750562, rs61750569, rs61753030, rs62642579, rs61751407, rs61750643, rs61750648, rs62642565, rs61750651, rs61750653, rs61750654, rs2101135952, rs1659538637, rs1660527423, rs2101057149, rs531109296, rs2100988221, rs1282472315, rs76157638, rs1800553, rs61750200, rs61750130, rs61752410, rs61751383, rs759672616, rs200967229, rs62642573, rs878853397, rs886041554, rs201855602, rs2523668736, rs761867791, rs2523707270, rs373086027, rs148234178, rs387906385, rs778234759, rs911580078, rs1571257937, rs779743222, rs1659051255, rs1417184535, rs1246844424, rs1659470705	RCV006272252 RCV006272253 RCV006272254 RCV006272255 RCV006272256 RCV006272257 RCV006272258 RCV006272259 RCV006272260 RCV006272261 RCV006272262 RCV006272263 RCV006272264 RCV006272265 RCV006272266 RCV006272267 RCV006272268 RCV006272269 RCV006272270 RCV006272271 RCV006272272 RCV006272273 RCV006272275 RCV005357541 RCV006272276 RCV006272277 RCV006272278 RCV006272279 RCV002551560 RCV006272309 RCV006272310 RCV006272311 RCV006272313 RCV006272312 RCV006272314 RCV006272243 RCV003324710 RCV006272245 RCV006272246 RCV006272248 RCV006272249 RCV002512903 RCV006272283 RCV006272282 RCV006272281 RCV006272284 RCV006272287 RCV006272288 RCV006272319 RCV006272289 RCV006272321 RCV006272322 RCV006272323 RCV006272294 RCV006272296 RCV006272297 RCV006272302 RCV006272303 RCV006272305 RCV006272306 RCV006272307 RCV006272308	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormal macular morphology	Pathogenic	rs62654397, rs76157638	RCV000414796 RCV000415097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal retinal morphology	Pathogenic	rs62654397	RCV000626666	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the eye	Pathogenic; Likely pathogenic	rs201738997, rs61751398, rs2101078317	RCV001814056 RCV001814057 RCV001814477	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Age related macular degeneration 2	Likely pathogenic; Pathogenic	rs2101069736, rs150774447, rs61748558, rs61751385, rs55732384, rs61749409, rs61749418, rs62654395, rs61749420, rs62654397, rs61749423, rs61751412, rs61749433, rs61749439, rs61748529, rs61749450, rs61749451, rs61751262, rs61749457, rs61750062, rs61750065, rs61751398, rs61752417, rs62645946, rs61750121, rs1801269, rs61750138, rs62646860, rs61750142, rs61750145, rs61750146, rs61750147, rs61751402, rs61750152, rs62642574, rs61750155, rs61751404, rs61751403, rs62646872, rs61750564, rs61750567, rs61751377, rs61753029, rs61750575, rs61751407, rs61751389, rs61750641, rs61753038, rs61753039, rs61750645, rs61750648, rs61748520, rs61750652, rs61750658, rs61748538, rs63749055, rs62645942, rs62645958, rs62645944, rs61748545, rs61751419, rs1265840106, rs754765164, rs200849015, rs1297410481, rs138641544, rs533422156, rs1232476760, rs148460146, rs2101027758, rs1660626613, rs794727903, rs200692438, rs76157638, rs61751408, rs61750061, rs1800553, rs61751374, rs61750200, rs61748559, rs61750130, rs61751383, rs886044763, rs886044758, rs752147871, rs760549861, rs886044750, rs886044749, rs759672616, rs568792949, rs746541266, rs768278935, rs756840095, rs201471607, rs368846708, rs886044725, rs61752390, rs886044720, rs145961131, rs757557272, rs749526785, rs575453437, rs201855602, rs1660944269, rs772735093, rs2523614402, rs746252741, rs2523832753, rs865990202, rs1057518955, rs1057518767, rs1057520213, rs371489809, rs752786160, rs1064793014, rs1085307968, rs149071415, rs765429911, rs911580078, rs1557783989, rs1557787756, rs141823837, rs1571264574, rs1571257754, rs1659524475, rs369973540, rs1661575232, rs1169850759, rs529598960, rs779585931, rs1362964563, rs757302286, rs374224955, rs61750156, rs1662599697, rs1659426620, rs1659427600, rs61750120, rs1800728, rs398123339, rs1191143782	RCV005023112 RCV005031583 RCV000763048 RCV005031584 RCV000763051 RCV002498452 RCV005025146 RCV002490741 RCV000763047 RCV001198384 RCV001195987 RCV002466250 RCV005025148 RCV002247487 RCV005025150 RCV005031585 RCV002498454 RCV005025153 RCV004796009 RCV005025154 RCV005025155 RCV001199228 RCV001198727 RCV002247489 RCV005862974 RCV000763045 RCV005031586 RCV001195926 RCV002247490 RCV001198562 RCV000763043 RCV005025158 RCV005025159 RCV001542561 RCV005025161 RCV005025163 RCV002505017 RCV005031587 RCV002498457 RCV002490743 RCV005031589 RCV001197154 RCV001199290 RCV005025166 RCV001196124 RCV000678514 RCV000763436 RCV000763435 RCV002490744 RCV001770079 RCV004783742 RCV002490746 RCV005031590 RCV005025168 RCV002498460 RCV005025169 RCV005031591 RCV004796010 RCV000763049 RCV005025170 RCV004796011 RCV005023127 RCV005038198 RCV005023215 RCV005025516 RCV005025523 RCV005025567 RCV005032010 RCV004796034 RCV002249213 RCV002249214 RCV005025288 RCV002485297 RCV001198385 RCV000763438 RCV004795382 RCV000678513 RCV000763046 RCV000763050 RCV005031425 RCV000763044 RCV000763437 RCV004783767 RCV000763439 RCV001197194 RCV002485455 RCV001196916 RCV002247669 RCV005025377 RCV005031808 RCV005025376 RCV001198725 RCV005025375 RCV001196593 RCV004796120 RCV005025374 RCV001198958 RCV005025373 RCV002485454 RCV005025404 RCV005025403 RCV001542553 RCV005025432 RCV005025438 RCV005036807 RCV005036878 RCV005030190 RCV005023562 RCV005023563 RCV005027469 RCV001196665 RCV001199212 RCV005027484 RCV003224874 RCV004819223 RCV002248696 RCV005027567 RCV005034047 RCV005027679 RCV005027700 RCV005027888 RCV005029408 RCV005029445 RCV001195988 RCV005029545 RCV002249662 RCV005029638 RCV005036344 RCV005036365 RCV005036373 RCV005029676 RCV005029675 RCV005036386 RCV005029680 RCV005029674 RCV005029679 RCV005029682 RCV001196636 RCV002504344 RCV001195927 RCV000678511 RCV005025131 RCV005029864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Age-related macular degeneration	Likely pathogenic; Pathogenic	rs62642574, rs76157638	RCV001535669 RCV001535670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs61750140, rs61750155, rs61753030, rs61751389, rs786205445, rs786205447, rs793888523, rs768278935, rs369973540, rs1661179785	RCV001257845 RCV001257846 RCV001257848 RCV001257850 RCV001257847 RCV001257843 RCV001257842 RCV001257844 RCV001257849 RCV001257824	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign concentric annular macular dystrophy	Likely pathogenic; Pathogenic	rs61749423, rs1800728	RCV000210310 RCV000210325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bietti crystalline corneoretinal dystrophy	Pathogenic	rs387906385	RCV000787775	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blindness	Pathogenic	rs61750654	RCV000414922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central scotoma	Pathogenic; Likely pathogenic	rs1057518767, rs398123339	RCV000415009 RCV000415227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs76157638	RCV005887380	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Likely pathogenic; Pathogenic	rs61753046, rs1800553, rs1557767754, rs1659954489, rs1660447204, rs1660845802, rs61748517	RCV000504742 RCV005417422 RCV005418344 RCV001199617 RCV001199611 RCV001199633 RCV005418985	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone dystrophy and rod monochromatism	Pathogenic	rs61752401	RCV005417459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs61750065, rs62645946, rs61750146, rs281865377, rs61750155, rs62646872, rs61751407, rs61751418, rs1282472315, rs76157638, rs886044750, rs768278935, rs201471607, rs778234759, rs1571250020, rs1571257937, rs778456901, rs1662213462, rs1662507319, rs61752435	RCV003324508 RCV003324509 RCV005417462 RCV002267726 RCV005417464 RCV003324512 RCV000845081 RCV005419274 RCV003324576 RCV000787768 RCV002267732 RCV002267731 RCV000787491 RCV003324531 RCV000787511 RCV002267745 RCV001199615 RCV001199627 RCV001199610 RCV003324503	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy 3	Likely pathogenic; Pathogenic	rs1662208443, rs61748534, rs2101069736, rs150774447, rs61748558, rs61751385, rs55732384, rs61749409, rs61749418, rs62654395, rs61749420, rs62654397, rs61749423, rs61749433, rs61748529, rs61749450, rs61749451, rs61751262, rs61749457, rs61750062, rs61750065, rs61751398, rs62645946, rs61750121, rs1801269, rs61750138, rs61750142, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs61751388, rs62646861, rs61750152, rs62642574, rs61750155, rs61750158, rs61751404, rs61751403, rs62646872, rs61750564, rs61750567, rs61750575, rs61751407, rs61750641, rs61753038, rs61753039, rs61750645, rs61750648, rs61748520, rs61750652, rs61750658, rs61748538, rs63749055, rs62645942, rs62645958, rs62645944, rs61748545, rs61751419, rs1265840106, rs754765164, rs376947008, rs200849015, rs1297410481, rs138641544, rs533422156, rs1659200106, rs1232476760, rs2101022823, rs148460146, rs145961131, rs794727903, rs200692438, rs76157638, rs61751408, rs61750061, rs1800553, rs61751374, rs61750200, rs61748559, rs62642560, rs61750130, rs61752410, rs61751383, rs121909206, rs387906388, rs61753033, rs886044763, rs886044758, rs760549861, rs759672616, rs568792949, rs768278935, rs756840095, rs886044735, rs201471607, rs368846708, rs61752398, rs61752390, rs886044720, rs1800728, rs61750132, rs757557272, rs748706582, rs886039882, rs749526785, rs575453437, rs201855602, rs1660944269, rs760735952, rs772735093, rs2523614402, rs746252741, rs2523832753, rs2101059901, rs865990202, rs1057520213, rs371489809, rs752786160, rs1085307968, rs149071415, rs1553193813, rs765429911, rs911580078, rs1553187160, rs1553188916, rs61749412, rs951379922, rs1557787559, rs1557783989, rs755733328, rs1557787756, rs141823837, rs1570393848, rs1570382663, rs367839100, rs1571257754, rs1570373408, rs369973540, rs1661575232, rs1169850759, rs1005271380, rs529598960, rs779585931, rs1362964563, rs1659840790, rs757302286, rs374224955, rs61750156, rs1662599697, rs1660938577, rs1659427600, rs1662208035, rs61750120, rs398123339, rs1191143782	RCV001352954 RCV001352971 RCV005023112 RCV005031583 RCV000782281 RCV005031584 RCV000763051 RCV000850520 RCV005025146 RCV002490741 RCV000763047 RCV004796008 RCV005025147 RCV005025148 RCV005025150 RCV005031585 RCV002498454 RCV005025153 RCV004796009 RCV005025154 RCV005025155 RCV002466427 RCV005025156 RCV005862974 RCV000763045 RCV005031586 RCV005025157 RCV002498456 RCV000763043 RCV005025158 RCV005025159 RCV001004999 RCV000008344 RCV002272126 RCV005025160 RCV001535669 RCV005025163 RCV005234982 RCV002505017 RCV003223338 RCV002498457 RCV002490743 RCV005031589 RCV003152681 RCV000332324 RCV000763436 RCV000763435 RCV002490744 RCV001004998 RCV006249362 RCV002490746 RCV005031590 RCV005025168 RCV002498460 RCV005025169 RCV005031591 RCV004796010 RCV000763049 RCV005025170 RCV004796011 RCV005023127 RCV005038198 RCV001591906 RCV005023215 RCV005025516 RCV005025523 RCV005025567 RCV004596498 RCV005032010 RCV002471198 RCV004796034 RCV005254716 RCV005025288 RCV000194199 RCV000008329 RCV000008333 RCV004795382 RCV000008341 RCV000008350 RCV000179293 RCV005031425 RCV000008360 RCV000763044 RCV000008363 RCV000763437 RCV000008367 RCV000008369 RCV000008372 RCV004783767 RCV000763439 RCV002485455 RCV005025377 RCV005031808 RCV005025376 RCV005025375 RCV004796121 RCV000449544 RCV004796120 RCV005025374 RCV001723810 RCV005025373 RCV002485454 RCV003123242 RCV003223381 RCV005025404 RCV005025403 RCV000256375 RCV000256405 RCV000416441 RCV005025432 RCV005025438 RCV005036807 RCV006270252 RCV005036878 RCV005030190 RCV005023562 RCV005023563 RCV004586407 RCV005027469 RCV005027484 RCV002480281 RCV002272229 RCV005027567 RCV005034047 RCV000505559 RCV005027679 RCV005027700 RCV000625600 RCV000625606 RCV000625951 RCV000787011 RCV000754585 RCV005027888 RCV000735700 RCV005029408 RCV000786893 RCV000787010 RCV002466581 RCV000850519 RCV005029545 RCV001029969 RCV002471022 RCV005036344 RCV005036365 RCV002471023 RCV005036373 RCV005029676 RCV005029675 RCV001269029 RCV005036386 RCV005029680 RCV005029674 RCV005029679 RCV005029682 RCV004789470 RCV002504344 RCV001352995 RCV002490678 RCV000008366 RCV005025131 RCV005029864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy, Recessive	Pathogenic	rs761867791	RCV000374572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital stationary night blindness	Likely pathogenic; Pathogenic	rs1553186509, rs61751398	RCV000504998 RCV000505122	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs76157638	RCV005887378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized choriocapillaris dystrophy	Pathogenic; Likely pathogenic	rs1662935816, rs1660946056, rs1660762877	RCV001280943 RCV001280944 RCV001280945	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs76157638	RCV005887379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated macular dystrophy	Pathogenic	rs1660844326, rs1660936779, rs61749429, rs754088610	RCV001199632 RCV001199606 RCV001199604 RCV001199602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs61749423, rs61751404	RCV000504983 RCV000505114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 14	Likely pathogenic; Pathogenic	rs61751383	RCV003447472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration	Pathogenic; Likely pathogenic	rs61750654, rs761867791, rs1057518767, rs398123339	RCV000414922 RCV000319805 RCV000415009 RCV000415227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	Pathogenic	rs1800553, rs61750130	RCV000008339 RCV000023139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic; Pathogenic	rs61748556, rs61751263, rs61751402, rs281865377, rs61750641, rs62645944, rs61748545, rs1800553, rs61751374, rs201471607, rs778234759, rs1553192682, rs1553195472, rs1800728	RCV000505043 RCV000504968 RCV000787763 RCV000504962 RCV000787517 RCV000787525 RCV000504769 RCV000504952 RCV000787495 RCV000787492 RCV000787507 RCV000505070 RCV000504763 RCV000504757 RCV000504857	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
maculopathy	Likely pathogenic; Pathogenic	rs62642574, rs61751377, rs61751389, rs1557787756	RCV001002826 RCV001002818 RCV001002810 RCV001002843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibulofacial dysostosis with mental deficiency	Pathogenic	rs61750130	RCV000454310	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Likely pathogenic; Pathogenic	rs1333985048, rs61751407, rs61751374, rs368846708	RCV004815334 RCV004815127 RCV004814860 RCV004816397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Pathogenic	rs62654397, rs76157638	RCV000414796 RCV000415097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone dystrophy (without rod involvement)	Likely pathogenic; Pathogenic	rs61750641, rs764759172	RCV000787766 RCV000787781	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal atrophy	Pathogenic; Likely pathogenic	rs1057518767, rs398123339	RCV000415009 RCV000415227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic; Likely pathogenic	rs61752391, rs150774447, rs61749420, rs61749450, rs61750135, rs61751376, rs61750641, rs200849015, rs794726979, rs200692438, rs76157638, rs61751408, rs1800553, rs61751374, rs61750130, rs61751383, rs749526785, rs1057518955, rs745654673, rs529598960, rs1662208035, rs61750120, rs1800728, rs1191143782	RCV006253790 RCV006273008 RCV006255150 RCV006253791 RCV006253792 RCV006270220 RCV006272085 RCV006254282 RCV006270226 RCV006439758 RCV006253456 RCV006253457 RCV006253458 RCV006272079 RCV006253459 RCV006253460 RCV006253938 RCV000414893 RCV006254156 RCV006254195 RCV006254250 RCV006253785 RCV006439631 RCV006446103	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs770453727, rs374015407, rs61748547, rs63749083, rs62642569, rs61748550, rs61751410, rs61752391, rs61748552, rs61748523, rs61748556, rs150774447, rs61748558, rs61748559, rs61751385, rs61751393, rs55732384, rs61749409, rs61749410, rs61749412, rs61751394, rs61749414, rs61749415, rs61749418, rs61752401, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61749425, rs61751412, rs61749428, rs61751395, rs61750202, rs61749433, rs61749436, rs61752406, rs61749444, rs61749446, rs61748529, rs61749448, rs61749449, rs61749451, rs61749453, rs61752411, rs62645948, rs61748530, rs61751413, rs61751262, rs61749459, rs61751397, rs61750062, rs61752415, rs61750065, rs61748531, rs61751398, rs61752416, rs61752417, rs62645946, rs61752419, rs61750121, rs1801269, rs61752421, rs61752423, rs61752425, rs281865514, rs61752427, rs61752428, rs62642573, rs61750135, rs61750139, rs61754044, rs61750138, rs61750140, rs61750142, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750155, rs61752438, rs61752439, rs61751404, rs61751403, rs61750562, rs62646872, rs61753020, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750569, rs61753028, rs61750571, rs61750573, rs61751406, rs61750574, rs61753029, rs61753030, rs62642562, rs62642576, rs61750633, rs62642579, rs61751407, rs61751389, rs61753036, rs61750639, rs61753037, rs61748517, rs61750641, rs61750643, rs61753038, rs61750644, rs61750645, rs281865382, rs61750648, rs62642565, rs61748520, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs63749058, rs61748538, rs61751409, rs61753045, rs61753046, rs63749055, rs61750659, rs62645958, rs62646864, rs62645944, rs61748545, rs61751418, rs1401716074, rs2101035728, rs2101075191, rs763267492, rs1660701838, rs143797418, rs138641544, rs2101023129, rs1183074086, rs533422156, rs139035971, rs2101022823, rs148460146, rs2523625058, rs2523701032, rs794726979, rs2101050605, rs1231942062, rs377311148, rs200692438, rs2523609688, rs779868828, rs869312184, rs869320785, rs76157638, rs61751408, rs1800553, rs61751374, rs61750200, rs121909205, rs61750130, rs61751383, rs886044764, rs886044763, rs886044761, rs886044759, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044732, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044737, rs886044736, rs768278935, rs1047376, rs756840095, rs886044731, rs886044735, rs201471607, rs368846708, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs878853397, rs878853396, rs1436211151, rs61750132, rs145961131, rs757557272, rs886041951, rs1162214541, rs749526785, rs575453437, rs201855602, rs886044148, rs779426136, rs760735952, rs2523821588, rs2523657424, rs2101023087, rs2523895384, rs2523979837, rs865990202, rs387906385, rs1057517869, rs1057517700, rs1057518955, rs61750638, rs779466403, rs760790294, rs1057520213, rs371489809, rs752786160, rs61751399, rs1064793014, rs762150575, rs141823837, rs1064793006, rs112005636, rs1553186896, rs776757706, rs778234759, rs1553188588, rs1553190559, rs1553190664, rs149071415, rs1553192432, rs1553192682, rs1553192726, rs1553193813, rs61748548, rs764759172, rs1356104318, rs765429911, rs748357067, rs1553187162, rs1553188071, rs1553189179, rs1553188916, rs951379922, rs1457937638, rs755733328, rs1557787756, rs374410829, rs1571241930, rs1571241947, rs2297669, rs886039299, rs745654673, rs1571264574, rs1570377861, rs185225547, rs367839100, rs774475956, rs1208195953, rs1437993640, rs779743222, rs1659430629, rs1659900155, rs1661577361, rs1662216783, rs1570373408, rs369973540, rs1306732480, rs1368508052, rs1660843703, rs542919944, rs1661575232, rs1005271380, rs1191816747, rs1659900228, rs529598960, rs779585931, rs1659061509, rs62642580, rs1362964563, rs1242866408, rs1659430143, rs1659452428, rs1659538743, rs1659721337, rs1659840790, rs763911476, rs751844313, rs1340989734, rs1385119665, rs1659953619, rs1660137001, rs61750148, rs1660166963, rs1046550021, rs1283350532, rs1660480045, rs1660481072, rs373868915, rs1237125868, rs1660532299, rs757302286, rs1661162346, rs1661163134, rs374224955, rs1448468321, rs1661625047, rs1417184535, rs1661663692, rs1661669685, rs1246844424, rs868543294, rs1658918693, rs759513613, rs61750156, rs1659914923, rs751319688, rs1659997092, rs1168144507, rs544428779, rs1662599697, rs1467000353, rs1660139846, rs1660938577, rs770272033, rs552517556, rs1659893796, rs1287053724, rs1660702616, rs61750120, rs61752435, rs1800728, rs398123339	RCV004815443 RCV004815444 RCV001074142 RCV001075021 RCV001074684 RCV001074409 RCV004815077 RCV001074256 RCV000210294 RCV004815078 RCV001074843 RCV004815079 RCV001074836 RCV001074238 RCV003888471 RCV004815080 RCV001073359 RCV000504951 RCV004815081 RCV001075859 RCV004815082 RCV001074535 RCV004815083 RCV001074066 RCV001074983 RCV004815084 RCV001074366 RCV001074668 RCV004815085 RCV001074028 RCV001074756 RCV001074514 RCV001073628 RCV001074306 RCV004794358 RCV001074411 RCV001074642 RCV001075477 RCV001075705 RCV004815088 RCV001073601 RCV004815091 RCV001074959 RCV004815092 RCV001075731 RCV001073897 RCV000504717 RCV004815094 RCV001075282 RCV004815095 RCV001074423 RCV001074611 RCV001073618 RCV004815097 RCV004815098 RCV004815099 RCV004815101 RCV004815102 RCV004815103 RCV001075833 RCV001075184 RCV004815104 RCV001074134 RCV000505014 RCV001073697 RCV004815105 RCV001075726 RCV001073646 RCV001074194 RCV004815107 RCV004815108 RCV001073602 RCV001074147 RCV003888473 RCV000210333 RCV004815110 RCV001075880 RCV001073983 RCV004815112 RCV001073587 RCV001074852 RCV001073630 RCV004815113 RCV000210300 RCV001074410 RCV001075709 RCV001075849 RCV001074286 RCV001075348 RCV001074177 RCV001074975 RCV001074325 RCV000210311 RCV000504816 RCV004815118 RCV001074630 RCV001073680 RCV004815119 RCV004815120 RCV004815121 RCV001073781 RCV001074107 RCV001074902 RCV001073647 RCV001074353 RCV004815122 RCV001074187 RCV001074056 RCV000504739 RCV001075012 RCV001074166 RCV004815123 RCV004798774 RCV001075475 RCV004815124 RCV004815125 RCV001075174 RCV001074898 RCV000504777 RCV004815128 RCV001075771 RCV004815129 RCV001075569 RCV001074874 RCV001073850 RCV001073783 RCV001075765 RCV001074057 RCV000504630 RCV001073616 RCV001075529 RCV004815131 RCV001073884 RCV004815132 RCV001074273 RCV004815133 RCV000505094 RCV001074378 RCV004815134 RCV000504919 RCV004815135 RCV003888484 RCV004794359 RCV001075620 RCV001075761 RCV001074842 RCV001075613 RCV001074394 RCV001075838 RCV001074202 RCV004815507 RCV004815504 RCV004815510 RCV003888303 RCV004815606 RCV004815672 RCV004816824 RCV004816827 RCV004816828 RCV004816862 RCV004816810 RCV004816808 RCV001073482 RCV004817219 RCV004817220 RCV001073557 RCV004818245 RCV004818246 RCV004816288 RCV001075570 RCV004817170 RCV004817171 RCV000210324 RCV001074348 RCV000505063 RCV001074885 RCV000505149 RCV000505109 RCV001074780 RCV001075717 RCV001074326 RCV001075868 RCV000504794 RCV004816436 RCV004816435 RCV004816433 RCV004816432 RCV004816431 RCV004816429 RCV004816428 RCV004816427 RCV004816424 RCV004816422 RCV004816421 RCV004816420 RCV001074401 RCV001073541 RCV001074079 RCV001075418 RCV004816448 RCV004816416 RCV000787761 RCV004816414 RCV001074181 RCV004816412 RCV003888652 RCV004816411 RCV004816410 RCV000504972 RCV004816409 RCV004816406 RCV004816405 RCV004816404 RCV004816403 RCV004816402 RCV004816401 RCV001074682 RCV004816447 RCV004816400 RCV001074886 RCV004816396 RCV004816395 RCV001074708 RCV001075206 RCV004816394 RCV004816393 RCV001074552 RCV004816391 RCV004816389 RCV004816388 RCV004816387 RCV004816386 RCV001074163 RCV004816383 RCV004816381 RCV004816380 RCV004816379 RCV004816378 RCV000225375 RCV000225610 RCV004794625 RCV004818302 RCV001075471 RCV001075801 RCV001074336 RCV004818311 RCV001074704 RCV001074658 RCV001074386 RCV001073879 RCV004816524 RCV004818373 RCV004818387 RCV003890945 RCV003890983 RCV003889444 RCV003889508 RCV004816637 RCV001073604 RCV001075421 RCV004816636 RCV001074613 RCV001075185 RCV001074641 RCV001073702 RCV001074499 RCV004816654 RCV001074731 RCV001073572 RCV000504970 RCV001073593 RCV001075584 RCV001074372 RCV004816698 RCV000504619 RCV004817733 RCV000505104 RCV000504651 RCV001075246 RCV001074966 RCV000504826 RCV004794397 RCV000504891 RCV000504673 RCV004817732 RCV000504926 RCV000504841 RCV000505087 RCV000505141 RCV000505124 RCV001075053 RCV004794420 RCV001075785 RCV001074718 RCV004817819 RCV004798849 RCV004817852 RCV001074340 RCV004817966 RCV004798864 RCV001073511 RCV004817995 RCV004817999 RCV004817998 RCV001074913 RCV000787480 RCV000787522 RCV004818015 RCV001074143 RCV000787902 RCV001074418 RCV004818091 RCV004818105 RCV004818106 RCV004818134 RCV001074894 RCV001074665 RCV001074402 RCV004818163 RCV004818164 RCV004818160 RCV004818162 RCV004818184 RCV004813655 RCV001074610 RCV004813571 RCV001073797 RCV004813678 RCV001075839 RCV001074519 RCV001074538 RCV001073331 RCV001074005 RCV001073878 RCV001074316 RCV001074168 RCV001073480 RCV001075791 RCV001075660 RCV001073313 RCV001073375 RCV001074087 RCV001075413 RCV001073820 RCV001073887 RCV001075350 RCV001074009 RCV001075014 RCV001073458 RCV001074951 RCV001073829 RCV001074820 RCV001075220 RCV001073788 RCV001075236 RCV001073590 RCV001074500 RCV001074446 RCV001074251 RCV001074403 RCV001074567 RCV001075222 RCV001075608 RCV001073439 RCV001074696 RCV001073698 RCV001074077 RCV001075148 RCV001074777 RCV001074408 RCV001074656 RCV001074566 RCV001073251 RCV001075738 RCV001074329 RCV001074206 RCV001073585 RCV001075706 RCV001074626 RCV001075055 RCV001073258 RCV001075244 RCV001075563 RCV004813744 RCV004813745 RCV004813857 RCV004813854 RCV004813942 RCV004814000 RCV004814049 RCV004814048 RCV004814058 RCV001074904 RCV001075555 RCV000210327 RCV001074239	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy, early-onset severe	Pathogenic; Likely pathogenic	rs387906387, rs61751383	RCV000008364 RCV000008365	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs758584771, rs1355238974, rs61748550, rs61748559, rs61749409, rs61749414, rs61749418, rs62654397, rs61748526, rs61751395, rs61749433, rs62642570, rs61749451, rs61749459, rs61750065, rs62645946, rs61750128, rs61750133, rs281865377, rs61751388, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61750639, rs61750645, rs61750648, rs61750653, rs61750659, rs62645944, rs2101035728, rs2101036750, rs147826775, rs745925619, rs863223338, rs794726979, rs794727903, rs76157638, rs1800553, rs61751374, rs61750138, rs201471607, rs61752398, rs765707028, rs2523655537, rs749526785, rs2523822075, rs148234178, rs2523832753, rs61750638, rs779466403, rs1057520213, rs61751399, rs762150575, rs1064797113, rs1553188588, rs1553192726, rs553776104, rs552517556, rs1570382663, rs754899711, rs1571253050, rs1659900155, rs1659902823, rs1660937747, rs1661098509, rs1368508052, rs1191816747, rs1662191792, rs1362964563, rs1242866408, rs1662599697, rs1347261858, rs1659893796, rs1800728	RCV006262353 RCV005438072 RCV003398695 RCV004800281 RCV001723664 RCV005055575 RCV004689454 RCV004586547 RCV004782054 RCV005406818 RCV004586548 RCV003235038 RCV000505078 RCV004800282 RCV004689455 RCV001723665 RCV005417460 RCV005887720 RCV000504708 RCV001723666 RCV003235039 RCV003387758 RCV004689457 RCV001723667 RCV001723668 RCV004767070 RCV004767071 RCV000791319 RCV001002809 RCV006268613 RCV005417958 RCV005237531 RCV005417959 RCV000787526 RCV005408879 RCV005419221 RCV006262354 RCV004782837 RCV000201475 RCV005237645 RCV006268655 RCV005433265 RCV000787487 RCV002247269 RCV000787494 RCV004526649 RCV000787770 RCV004782319 RCV005237763 RCV005419588 RCV000504933 RCV006262813 RCV005240819 RCV004526458 RCV001723980 RCV000787485 RCV004586705 RCV000504768 RCV005239062 RCV001199614 RCV000504637 RCV000504738 RCV005407681 RCV004800573 RCV000787488 RCV005240568 RCV001002816 RCV001199630 RCV001199619 RCV001199605 RCV001199603 RCV006265538 RCV005236580 RCV003324553 RCV004587039 RCV005408685 RCV004689988 RCV005236595 RCV004782683 RCV003324561 RCV000787510	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 19	Pathogenic; Likely pathogenic	rs61750155, rs2101069736, rs61748550, rs150774447, rs61748558, rs61751385, rs55732384, rs61749409, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs62654397, rs61749423, rs61749433, rs61752407, rs61748529, rs61749450, rs61749451, rs61751262, rs61749457, rs61750062, rs61750065, rs61751398, rs62645946, rs61750121, rs1801269, rs61754044, rs61750138, rs61750142, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61751404, rs61751403, rs62646872, rs61750564, rs61750567, rs61750575, rs61751407, rs61751389, rs61750641, rs61753038, rs61753039, rs61750645, rs61750648, rs61748520, rs61753043, rs61750652, rs61750654, rs61750658, rs61748538, rs61753046, rs63749055, rs62645942, rs62645958, rs62645944, rs61748545, rs61751419, rs1265840106, rs754765164, rs752160946, rs2101067575, rs200849015, rs1660350150, rs1297410481, rs138641544, rs533422156, rs1232476760, rs148460146, rs2101048479, rs768129542, rs794726979, rs794727903, rs200692438, rs76157638, rs61751408, rs61750061, rs1800553, rs61751386, rs61751374, rs61750200, rs61748559, rs61750130, rs61751383, rs886044763, rs886044758, rs760549861, rs759672616, rs568792949, rs768278935, rs756840095, rs201471607, rs368846708, rs61749427, rs61752390, rs886044720, rs2523655537, rs145961131, rs757557272, rs749526785, rs575453437, rs201855602, rs2523624439, rs2523822075, rs2523771540, rs1660944269, rs772735093, rs2523841284, rs2523614402, rs746252741, rs2523832753, rs1662601425, rs2101059901, rs865990202, rs1057517700, rs1057520213, rs371489809, rs752786160, rs1085307968, rs1553186896, rs778234759, rs149071415, rs764759172, rs765429911, rs911580078, rs1557783989, rs1557787756, rs141823837, rs367839100, rs1571257754, rs1557787473, rs779743222, rs369973540, rs1661575232, rs1169850759, rs529598960, rs779585931, rs1362964563, rs757302286, rs374224955, rs61750156, rs1662599697, rs1347261858, rs1659351261, rs1659427600, rs61750120, rs1800728, rs398123339, rs1191143782	RCV004577354 RCV005023112 RCV002513925 RCV005031583 RCV000763048 RCV005031584 RCV000763051 RCV000850520 RCV005025146 RCV001542645 RCV000008352 RCV002490741 RCV000763047 RCV004796008 RCV005025147 RCV005025148 RCV001542644 RCV005025150 RCV005031585 RCV002498454 RCV005025153 RCV004796009 RCV005025154 RCV005025155 RCV001808323 RCV005025156 RCV005862974 RCV000763045 RCV005252753 RCV005031586 RCV005025157 RCV002498456 RCV000763043 RCV005025158 RCV001542643 RCV000678509 RCV000008343 RCV000210286 RCV001535669 RCV001808326 RCV002505017 RCV005031587 RCV002498457 RCV002490743 RCV005031589 RCV005025166 RCV000210303 RCV001542556 RCV000763436 RCV000763435 RCV002490744 RCV005357540 RCV006249362 RCV002490746 RCV003225930 RCV005031590 RCV004720238 RCV005025168 RCV002498460 RCV001352970 RCV002513926 RCV005031591 RCV004796010 RCV000678516 RCV005025170 RCV004796011 RCV005023127 RCV005038198 RCV001542558 RCV001591780 RCV005023215 RCV001808133 RCV005025516 RCV005623102 RCV005025567 RCV005032010 RCV001542554 RCV005252142 RCV002281670 RCV005867995 RCV005025288 RCV002485297 RCV001535670 RCV000763438 RCV004795382 RCV001254602 RCV000008342 RCV000763046 RCV000763050 RCV005031425 RCV000763044 RCV000763437 RCV004783767 RCV000763439 RCV002485455 RCV005025377 RCV005031808 RCV005025376 RCV005025375 RCV004796121 RCV004796120 RCV005025374 RCV001352989 RCV005025373 RCV002485454 RCV002789986 RCV005025404 RCV005025403 RCV000678515 RCV005025432 RCV005025438 RCV003447454 RCV003445395 RCV003445396 RCV005036807 RCV005036878 RCV005254856 RCV005030190 RCV005023562 RCV005023563 RCV005254906 RCV004586407 RCV005027469 RCV002272222 RCV005027484 RCV002480281 RCV002250625 RCV001353028 RCV005869532 RCV001542560 RCV005034047 RCV004546511 RCV005027679 RCV005027700 RCV005027888 RCV005029408 RCV005029445 RCV000850519 RCV005029545 RCV005871052 RCV001542646 RCV005029638 RCV005036344 RCV005036365 RCV005036373 RCV005029676 RCV005029675 RCV005036386 RCV005029680 RCV005029674 RCV005029679 RCV005029682 RCV005253720 RCV005253730 RCV002504344 RCV002490678 RCV000763440 RCV005025131 RCV005029864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa, Recessive	Pathogenic	rs761867791	RCV000264727	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs76157638	RCV005887381	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe early-childhood-onset retinal dystrophy	Likely pathogenic; Pathogenic	rs1660186858, rs771742619, rs1658995249, rs1659153516, rs1659159979, rs770453727, rs1659429594, rs1659469884, rs1659522195, rs1659543067, rs1659672463, rs374015407, rs1659888526, rs1659998657, rs1347261858, rs766239144, rs1660527879, rs61749452, rs1661175744, rs1662504407, rs1355238974, rs2101069736, rs63749083, rs61748550, rs61751410, rs61748552, rs61748554, rs61748556, rs150774447, rs61748558, rs61751385, rs61751393, rs55732384, rs61749409, rs61749412, rs61749414, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61751412, rs61748526, rs61749428, rs61751395, rs61750202, rs61749433, rs61752406, rs61748529, rs61749450, rs61749451, rs62645948, rs61749456, rs61751262, rs61749457, rs61749459, rs61751397, rs61750062, rs61750065, rs61751398, rs61752416, rs61752417, rs62645946, rs61750121, rs1801269, rs61752425, rs61751400, rs61752427, rs62642573, rs61750135, rs61754044, rs61750138, rs61750141, rs61750142, rs61752434, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750153, rs61750155, rs61752438, rs61751404, rs61751403, rs61750562, rs62646872, rs61753020, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750571, rs61751406, rs61753029, rs62642562, rs62642576, rs61750575, rs61750633, rs61748534, rs61751407, rs61753032, rs61751389, rs61750639, rs61753037, rs61750641, rs61750643, rs61753038, rs61753039, rs61750645, rs281865382, rs61750648, rs62642565, rs61750649, rs61748520, rs61750651, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs61750658, rs61748538, rs61753045, rs61753046, rs63749055, rs61750659, rs62645942, rs62645958, rs62645944, rs61748545, rs2101008577, rs2101069758, rs1662504014, rs61751418, rs61751419, rs1265840106, rs1660527478, rs888059763, rs2101075191, rs754765164, rs2101079015, rs1279522242, rs2101101348, rs763267492, rs2101135424, rs2101024039, rs2101048742, rs2101053587, rs776773510, rs1660531525, rs754082669, rs200849015, rs2101036750, rs143797418, rs1297410481, rs786205446, rs138641544, rs61753040, rs2101023129, rs533422156, rs1478038032, rs1232476760, rs2101013633, rs527236129, rs148460146, rs2101069632, rs2101047075, rs2100987881, rs2523668348, rs771038310, rs2523890741, rs1420128252, rs786205445, rs377311148, rs794727903, rs2523771313, rs2523624176, rs200692438, rs2523707250, rs869312184, rs869320785, rs76157638, rs61751408, rs61749438, rs61750061, rs61750064, rs1800553, rs61751374, rs61748548, rs61750200, rs121909205, rs61748559, rs61750130, rs61752410, rs61751383, rs121909206, rs61753033, rs886044764, rs886044763, rs886044761, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044736, rs768278935, rs756840095, rs886044735, rs201471607, rs368846708, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs2523655537, rs145961131, rs757557272, rs748706582, rs749526785, rs575453437, rs201855602, rs2523668736, rs2523751766, rs2523841647, rs2523729282, rs779426136, rs1660944269, rs1571241947, rs1436211151, rs772735093, rs2523614402, rs1012284944, rs746252741, rs2523832753, rs2523897592, rs2523694854, rs2523668882, rs2523624191, rs1659196542, rs2101059901, rs865990202, rs387906385, rs1057520213, rs371489809, rs752786160, rs61751399, rs1064793014, rs1085307968, rs1553192715, rs1553186896, rs1297857869, rs778234759, rs1435203678, rs1553188682, rs1553189507, rs1553190664, rs149071415, rs764759172, rs765429911, rs911580078, rs1553189179, rs1553188916, rs1553196583, rs951379922, rs1457937638, rs1557783989, rs1557787756, rs552517556, rs374410829, rs1557767754, rs141823837, rs367839100, rs1373168392, rs1571243037, rs1571257754, rs1571258440, rs1571265125, rs61751401, rs1571265241, rs1570367230, rs779466403, rs1401924846, rs1557787473, rs1366296798, rs761209432, rs61752439, rs1661098509, rs767729255, rs747950242, rs369973540, rs1368508052, rs1660843703, rs1661575232, rs1169850759, rs1005271380, rs1191816747, rs529598960, rs779585931, rs1362964563, rs763911476, rs751844313, rs1385119665, rs757302286, rs374224955, rs1658918693, rs61750156, rs1168144507, rs1662599697, rs1467000353, rs1659351261, rs1660360744, rs369440533, rs770272033, rs568627877, rs1659427600, rs1661179785, rs61750120, rs1800728, rs771092150, rs398123339, rs1191143782	RCV005235564 RCV004563030 RCV001353004 RCV001353009 RCV001352983 RCV001352994 RCV001353016 RCV001353012 RCV001353046 RCV001352975 RCV001352984 RCV001353043 RCV001352944 RCV001352951 RCV001352952 RCV001352986 RCV001353018 RCV001353029 RCV001352949 RCV001353005 RCV001352982 RCV005023112 RCV000986373 RCV000152707 RCV000408553 RCV000504649 RCV002509208 RCV000408566 RCV000210980 RCV000132585 RCV000763048 RCV000132587 RCV000408487 RCV000408452 RCV000408597 RCV000408475 RCV000408491 RCV005025146 RCV000408499 RCV000008351 RCV000132588 RCV000408546 RCV000408483 RCV001353038 RCV004796008 RCV000408512 RCV001353042 RCV000504688 RCV000408455 RCV000408526 RCV005867894 RCV005025148 RCV000408572 RCV005400423 RCV000986376 RCV002225080 RCV002498454 RCV000408568 RCV004558308 RCV005025153 RCV004796009 RCV000408496 RCV000408564 RCV005025154 RCV005025155 RCV002498455 RCV000408551 RCV000408464 RCV002051808 RCV003992183 RCV000408460 RCV000408578 RCV000408535 RCV000986360 RCV001727570 RCV000132591 RCV000408501 RCV004562247 RCV000504676 RCV000504867 RCV000408447 RCV001808324 RCV000408536 RCV000408472 RCV000408580 RCV002225081 RCV000177442 RCV000210298 RCV000408527 RCV000177509 RCV000177510 RCV000408591 RCV001376269 RCV000408465 RCV000999644 RCV000408519 RCV000321118 RCV000408523 RCV000986352 RCV000408570 RCV000408469 RCV000408542 RCV000301420 RCV005031589 RCV000408528 RCV000408592 RCV001352958 RCV000677343 RCV001352967 RCV000408577 RCV004562248 RCV005025166 RCV000678512 RCV000008354 RCV000210321 RCV005234983 RCV000408561 RCV005234984 RCV000408461 RCV000178545 RCV000408458 RCV000763435 RCV002490744 RCV005357540 RCV000986345 RCV000408484 RCV000504640 RCV004562250 RCV000318700 RCV004562251 RCV000408502 RCV005031590 RCV005222752 RCV000132593 RCV000408531 RCV005025168 RCV002498460 RCV000408488 RCV000408450 RCV001723670 RCV004562252 RCV005031591 RCV004796010 RCV000408540 RCV005025170 RCV001376209 RCV001376281 RCV001376405 RCV000986374 RCV004796011 RCV005023127 RCV005235576 RCV004699132 RCV002290699 RCV002225134 RCV001391313 RCV005235578 RCV001587394 RCV003989695 RCV001591788 RCV001591801 RCV001591820 RCV001591900 RCV001591912 RCV001591918 RCV001591926 RCV005023215 RCV001840952 RCV004797959 RCV005025516 RCV004565159 RCV005025523 RCV005235620 RCV006449391 RCV005025567 RCV004565162 RCV005032010 RCV002290820 RCV000132589 RCV000986347 RCV002225171 RCV002250940 RCV002259425 RCV003164452 RCV002302857 RCV002471461 RCV005870009 RCV003989477 RCV000296428 RCV005025288 RCV004559966 RCV004565630 RCV000194199 RCV004565656 RCV004556765 RCV000408506 RCV000008328 RCV000008332 RCV000008334 RCV000008337 RCV000008338 RCV000008340 RCV000008348 RCV000008353 RCV000008355 RCV000008356 RCV000008357 RCV000008362 RCV000986365 RCV000505162 RCV000008368 RCV000008371 RCV000408503 RCV000408559 RCV000408599 RCV000408446 RCV000408493 RCV000408495 RCV000408510 RCV000408529 RCV000408565 RCV000408470 RCV000408514 RCV000408555 RCV000408509 RCV000408562 RCV000408479 RCV000408473 RCV000408554 RCV000408489 RCV000408586 RCV000408486 RCV000408571 RCV000408520 RCV000408511 RCV000408462 RCV000408552 RCV000408545 RCV000408497 RCV000408539 RCV000408467 RCV000408518 RCV000408456 RCV000408500 RCV000408538 RCV000408471 RCV000408530 RCV000408563 RCV000408560 RCV000408594 RCV000408543 RCV000408573 RCV000408522 RCV000408557 RCV000408492 RCV000408454 RCV000408494 RCV000408521 RCV000408498 RCV000408466 RCV000408508 RCV000408582 RCV003229942 RCV000504776 RCV005025403 RCV004563295 RCV002480011 RCV000329208 RCV005025438 RCV003337941 RCV003389568 RCV003389584 RCV003389596 RCV005235252 RCV003445397 RCV003494496 RCV005235721 RCV005036878 RCV005030190 RCV003990938 RCV005023562 RCV005023563 RCV004566417 RCV004566504 RCV004566505 RCV004566506 RCV004574944 RCV004586407 RCV005027469 RCV000504931 RCV005027484 RCV002289547 RCV005235274 RCV000023140 RCV000023141 RCV002250633 RCV005027567 RCV000498003 RCV000504985 RCV000505135 RCV000504847 RCV000504832 RCV000504799 RCV000504663 RCV005407661 RCV000504918 RCV005034047 RCV005235366 RCV001376340 RCV005027700 RCV001352957 RCV002289913 RCV000656498 RCV005632583 RCV000678510 RCV000722087 RCV005029408 RCV004564474 RCV001353035 RCV001353013 RCV005029445 RCV000850519 RCV000986344 RCV000986346 RCV000986349 RCV000986354 RCV000986356 RCV000986357 RCV000986358 RCV000986359 RCV000986361 RCV000986364 RCV000986367 RCV000986368 RCV000986370 RCV000986371 RCV000986377 RCV004563619 RCV004761860 RCV001029767 RCV001029826 RCV005866777 RCV001352962 RCV004594246 RCV005036344 RCV005036365 RCV001352948 RCV005232105 RCV005036373 RCV004564573 RCV005029675 RCV004564574 RCV004564577 RCV004564576 RCV005036386 RCV001376519 RCV005029674 RCV003989637 RCV004564575 RCV005235521 RCV005029682 RCV004564579 RCV001250529 RCV003313997 RCV004557470 RCV001353021 RCV004562083 RCV002504344 RCV005866891 RCV005860204 RCV000150052 RCV000177965 RCV001352990 RCV000078672 RCV005029864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs767312869	RCV005925617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease	Likely pathogenic; Pathogenic	rs61748552, rs61748554, rs150774447, rs61749409, rs61749412, rs61751412, rs61749429, rs61750202, rs61749446, rs61751262, rs61749459, rs62645946, rs61750121, rs61754044, rs62646860, rs61750142, rs61752434, rs61750145, rs61750146, rs61750152, rs61750155, rs61751404, rs61751403, rs62646872, rs61750571, rs61753030, rs62642576, rs61750575, rs61750633, rs61751407, rs61750639, rs61750642, rs61753038, rs61750645, rs61750648, rs61750652, rs61750658, rs62645944, rs1428504985, rs200849015, rs1660350150, rs2101079462, rs143797418, rs1297410481, rs138641544, rs1183074086, rs1659200106, rs61750655, rs2101059717, rs2101057370, rs1282472315, rs2101057076, rs2101067700, rs868543294, rs2523965353, rs2523816358, rs1255149314, rs2523752501, rs2523965931, rs2523728931, rs2523980607, rs1166357291, rs1662938116, rs76157638, rs61751408, rs61750061, rs1800553, rs61753034, rs61751374, rs61750200, rs61750130, rs61751383, rs61753033, rs760549861, rs886044750, rs886044747, rs886044746, rs568792949, rs200967229, rs61750138, rs768278935, rs201471607, rs368846708, rs746566873, rs886044728, rs201855602, rs1388219872, rs746252741, rs61750638, rs886046564, rs762150575, rs112005636, rs1553187939, rs1553186896, rs778234759, rs764759172, rs374410829, rs141823837, rs1571241930, rs1571241947, rs2297669, rs1571264551, rs1570367144, rs1570370929, rs1570380080, rs1570386206, rs1571264574, rs754899711, rs1570377861, rs1557787473, rs1208195953, rs1571245809, rs1571252997, rs1437993640, rs1571256775, rs61752439, rs1570370826, rs1570393727, rs1570407032, rs779743222, rs1570433137, rs886044740, rs1659430629, rs1660761326, rs1661577361, rs1662327418, rs1662216783, rs542919944, rs145718830, rs1169850759, rs751844313, rs1661666701, rs1659351261, rs568627877, rs1660983058, rs61750120, rs1800728, rs771092150, rs1191143782	RCV005406817 RCV002509208 RCV000826094 RCV003324506 RCV000787762 RCV000787776 RCV001002839 RCV000787774 RCV003330430 RCV001002836 RCV003324507 RCV003324510 RCV004700403 RCV005417461 RCV003330431 RCV003324511 RCV005055576 RCV001002829 RCV005417463 RCV001002827 RCV001002825 RCV000787504 RCV000787505 RCV003324513 RCV000787509 RCV001002813 RCV005406820 RCV004689603 RCV000787512 RCV000515694 RCV005055577 RCV003324514 RCV000787772 RCV000787519 RCV004017397 RCV004526616 RCV001002806 RCV003993802 RCV005432697 RCV004587194 RCV002468642 RCV001839464 RCV005409042 RCV006262343 RCV004587272 RCV003331250 RCV003331240 RCV002468652 RCV002469422 RCV002469432 RCV003324577 RCV002469415 RCV004801062 RCV004699498 RCV002468686 RCV002468688 RCV002468689 RCV002468911 RCV002468914 RCV002469936 RCV002469939 RCV002471760 RCV005419575 RCV003324587 RCV000787486 RCV000826132 RCV003398468 RCV000787514 RCV000008347 RCV000787493 RCV000787521 RCV000787498 RCV000787773 RCV000008370 RCV000826133 RCV005418025 RCV001002819 RCV001002822 RCV003401161 RCV005418023 RCV000515660 RCV003330593 RCV000787490 RCV005418022 RCV005406968 RCV000787483 RCV001002835 RCV006262356 RCV004526446 RCV005055959 RCV005899620 RCV000787780 RCV001199629 RCV003324528 RCV000787518 RCV000787508 RCV000787527 RCV005897383 RCV001002840 RCV000787524 RCV000787523 RCV000787520 RCV000787499 RCV000787497 RCV000787496 RCV000787489 RCV000787484 RCV000787779 RCV000787903 RCV000787765 RCV001002841 RCV001199625 RCV001002808 RCV001002814 RCV001002815 RCV001002820 RCV001002821 RCV001002824 RCV001002833 RCV001002842 RCV001002845 RCV001002846 RCV001002848 RCV001002830 RCV001199626 RCV001199607 RCV001199601 RCV001199621 RCV001199624 RCV002469338 RCV005429299 RCV005913561 RCV004017784 RCV005418992 RCV001174687 RCV005057139 RCV005419046 RCV001002834 RCV000787771 RCV005236773 RCV005910946	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 3	Pathogenic; Likely pathogenic	rs61748550, rs61748558, rs61752397, rs55732384, rs61749409, rs61752401, rs61749423, rs2101078482, rs2523833102, rs76157638, rs61750200, rs121909205, rs61752410, rs201471607, rs575453437, rs2524014792, rs1662601425, rs2523999188, rs61749412, rs747950242, rs1661578005, rs1660700260, rs1662208035	RCV004558301 RCV004558302 RCV004558303 RCV004558304 RCV004558305 RCV004558306 RCV004558307 RCV004558701 RCV004559980 RCV004558239 RCV004558240 RCV004558241 RCV004558242 RCV004558582 RCV004558613 RCV004560355 RCV004560356 RCV004560357 RCV004559256 RCV004559836 RCV004557469 RCV004557489 RCV004557479	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt Disease, Recessive	Pathogenic	rs761867791	RCV000280073	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic retinitis pigmentosa	Pathogenic	rs1800553	RCV005417423	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs148460146	RCV005886936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs76157638	RCV005887382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visual impairment	Likely pathogenic; Pathogenic	rs1057518955, rs1057518767, rs398123339	RCV000414893 RCV000415009 RCV000415227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visual loss	Pathogenic	rs61750654	RCV000414922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitreoretinopathy	Likely pathogenic; Pathogenic	rs61750641	RCV000787516	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATROPHIC RETINA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIASTOLIC HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Late-onset cone-rod dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 91	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY BACKGROUND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDT DISEASE 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINAL DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	10088993, 25592337, 29860501		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	10216065, 10396622, 10442900, 10458172, 10486215, 10509673, 10634626, 10662806, 10711710, 10852960, 10880298, 10913642, 10958763, 11097334, 11346402, 11385708, 11726554, 11818392, 11857735, 12437993, 12592048, 12700041, 12754711, 12789571, 12824224, 12960208, 14517951, 15017103, 15192030, 15375613, 16103129, 16681420, 17491602, 17994272, 18024811, 19056738, 20335603, 20419437, 22427542, 22706241, 22863181, 22948568, 23144455, 24550392, 24713488, 24791901, 25884411, 25921964, 26261413, 26261643, 26420842, 26468292, 27315541, 29188512, 29310964, 29461686, 30563929, 30634128, 31318848, 31618812, 9054934, 9295268, 9466990, 9781034, 9810566, 9973280		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	11919200, 12592048, 15947798, 16604398		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	16968212		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Albinism Ocular	Ocular albinism	Pubtator	27367509	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	29847651		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36521383	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	23571587, 27030769		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28435263		★☆☆☆☆ Found in Text Mining only
Anemia sideroblastic spinocerebellar ataxia	Sideroblastic anemia	Pubtator	18398482	Stimulate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	35301265	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26323267, 27482882		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26323267, 27482882		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30896765		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	BEFREE	29310964		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	10874631, 18854780, 25356532, 28365912, 37728905, 40269797	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28844557		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11199919		★☆☆☆☆ Found in Text Mining only
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	Bietti Crystalline Dystrophy	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blindness	Blindness	Pubtator	10958763, 28327576, 30204727, 31403270, 34874912	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blindness, Legal	Blindness	BEFREE	22264887		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	24444108	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18523590, 19430638	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28731692		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10078959		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11591886, 18310281, 23556449, 31432185		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	29897452		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25122423, 30936993		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25120763	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15269137, 30333865, 30662936		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28731692		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23573313		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23573313		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	BEFREE	28194423		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	37344314	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	29602456		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	28268212		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	BEFREE	15019334, 24713488		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	34073554	Associate	★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	23940504	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28721033, 28722028		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	23167473, 34769998	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	23167473, 24738728, 25081408, 31122291, 34769998	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	37728905	Associate	★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	23940504	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26109419, 30098223		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30098223	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG	10958761, 24265693, 9054934		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone Dystrophy	Cone dystrophy	Pubtator	18285826, 26957898, 31144483, 35170407	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	10958761, 11527935, 11726554, 12796258, 15017103, 15494742, 16303974, 16681420, 16896346, 17325179, 17893657, 18285826, 19352439, 23755871, 25363634, 26593885, 26780318, 28044389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG	30718709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	10413692, 10958761, 11527935, 11726554, 11846518, 12442277, 12796258, 14517951, 15017103, 15019334, 15494742, 16303974, 16681420, 16896346, 17270046, 17325179, 17893657, 18285826, 19352439, 23755871, 24453473, 25082885, 25356532, 25363634, 26593885, 26780318, 28044389, 9466990		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	10958761, 23776498, 26992781		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 3 (disorder)	Cone-rod dystrophy	CLINVAR_DG	10413692, 10711710, 10958763, 11017087, 11385708, 16103129, 18285826, 19074458, 19217903, 20696155, 22264887, 22328824, 22427542, 23591405, 23695285, 23755871, 24265693, 24444108, 24713488, 25082885, 25097241, 26593885, 28181551, 30576320, 9466990, 9503029, 9781034, 9973280		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 3 (disorder)	Cone-rod dystrophy	UNIPROT_DG	10958761, 11385708, 11527935		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 3 (disorder)	Cone-rod dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 3 (disorder)	Cone-rod dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22116099, 30590389		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11349008		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	11349008	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	11349008	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35260635	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26092729, 31295857		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	26092729	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35301265	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18490524		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37318461	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	10711710, 11857735, 12754711, 26092729		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	18024811, 19217903, 24550392, 25283059, 25884411		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dystonia 12	Dystonia	Pubtator	28947085	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	10958761	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23573313		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31333787		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31333787		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	10634626		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	35353811	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	30374144	Stimulate	★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	36729443	Associate	★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	29207047		★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	CTD_human_DG	29207047		★☆☆☆☆ Found in Text Mining only
Full thickness hole of macula lutea	Full Thickness Hole Of Macula Lutea	BEFREE	16703556		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	22060670, 22427542		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31882480	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24781949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
gliosarcoma	Gliosarcoma	BEFREE	10078959		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	LHGDN	17997789		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	26475431		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25301883	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22116099, 30590389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	10909980		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28952454		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	26835700		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	15017103		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	40269797	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	16257066		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	27188739		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25890853		★☆☆☆☆ Found in Text Mining only
Juvenile macular degeneration	Macular degeneration	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile macular degeneration and hypotrichosis	Macular degeneration	Pubtator	28061825	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG	10090887, 9781034		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	18334942, 23443024, 23940504, 24811962, 30416334, 33879469, 35170407, 37108442, 38222458	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	23443024, 24791140		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh Disease	Leigh Syndrome	BEFREE	28435263		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22058196, 30962310	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20085590, 21310960, 21849266, 24704835, 25516716, 28423737, 31754340		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	17127271		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	24871971, 27374344		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19132374, 25122423	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	10216065, 10486215, 10880298, 10958763, 18024811, 19056738, 20335603, 21106043, 22661473, 24713488, 24811962, 25884411, 26024099, 26261413, 26261643, 26527198, 28446513, 29310964, 32298433, 32627976, 33836713, 34431609, 34625547, 34874912, 35353811, 36178783, 36672932, 37498587, 37979432, 38309476, 39596324, 40225145, 40269797, 9666097, 9973280	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration	Macular Degeneration	BEFREE	10486215, 10852960, 15192030, 15375613, 16681420, 17994272, 22863181, 22948568, 23144455, 26420842, 29188512, 29310964, 29461686, 30563929		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration	Macular Degeneration	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular Degeneration, Age-Related, 2	Age-related macular degeneration	UNIPROT_DG	19028736, 9295268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 2	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 2	Age-related macular degeneration	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 2	Age-related macular degeneration	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, EARLY-ONSET	Macular Degeneration	BEFREE	11804194		★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	10662806, 11385708, 18024811, 20335603, 24713488, 30634128, 31318848, 31618812, 9054934		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Macular dystrophy	CLINVAR_DG	10874631, 11527935, 14517951, 15614537, 20960624, 25312043, 30718709, 9295268, 9781034		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy concentric annular	Macular dystrophy	Pubtator	18024811, 19217903, 25283059, 25356532, 27367509, 33836713	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy retinal 1 North Carolina type	Macular dystrophy	Pubtator	26247787, 36402981	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11591886, 18310281, 31432185		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31333787		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25122423, 30936993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15269137, 30333865, 30662936		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28416605		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21151870, 23748283, 30662936, 31333787		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23573313		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	27769782		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23288347		★☆☆☆☆ Found in Text Mining only
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION	MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25115303	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	29643945	Associate	★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	BEFREE	22496123		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35413457	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	18024811		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21693596		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	23727086		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	23727086	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	32619608	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10078959, 18310281, 23573313, 25516716, 26600514, 30364132, 31333787		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12885402	Associate	★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	17997789		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24097981	Associate	★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	29310964	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	CLINVAR_DG	12515255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Age-related macular degeneration	Age-related macular degeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21332310		★☆☆☆☆ Found in Text Mining only
North Carolina macular dystrophy	North Carolina Macular Dystrophy	BEFREE	9719369		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29532316, 29914668, 31744622		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular Albinism type 1	Ocular albinism	Pubtator	27367509	Associate	★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	27367509		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular hypertension	Pubtator	35248547	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	11857735		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	GWASCAT_DG	28054174		★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	27527345		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	27527345	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36807122	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	30739141		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15269137, 30333865, 30662936		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37838788	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28416605		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	22871184, 32298433, 32832238, 36306781, 38309476	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	33258285	Associate	★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	28194423		★☆☆☆☆ Found in Text Mining only
Progressive cone dystrophy (without rod involvement)	Progressive Cone Dystrophy	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	33452396	Associate	★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	30738069		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	15086542		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	36012482	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	25031143, 27374344		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	25031143, 27374344		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	25031143, 27374344		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	16303974, 17325179, 17429493, 22247458, 24453473, 24550365, 26261413, 26377081, 28130426, 28885670, 28945494, 29386879, 29422768, 31766579, 33258285, 33261146, 33507217, 35353811, 35656873, 36455383, 37108442, 37175983, 38499139	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	10396622, 10612508, 11017087, 11379881, 11384574, 11687513, 11726554, 12824224, 12962493, 14517951, 15019334, 15614537, 1610568, 17325136, 17982420, 18285826, 19365039, 20661590, 20711710, 21510770, 22229821, 22247458, 23695285, 23769331, 23918662, 23953153, 24713488, 24791901, 25474345, 25884411, 26593885, 26720470, 27414126, 27939946, 28192797, 28341476, 29049734, 29310964, 29699983, 30657522, 30670881, 31318848, 31721179, 31814693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal detachment	Pubtator	10612508, 18285826, 19056738, 19074458, 19217903, 23695285, 23755871, 25884411, 28446513, 28559085, 31144483, 31397521, 31618812, 31766579, 31814693, 31877759, 32423767, 32467599, 32660024, 33258285, 33691693, 33909047, 33988224, 35475888, 35621151, 36178783, 36460718, 37287645, 37498587, 37778667, 37930186, 38222458, 38309476, 38615588, 40225145, 40269797	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	10090887, 10958763, 11328725, 11379881, 11594993, 15614537, 21911583, 22229821, 23918662, 23982839, 25066811, 25312043, 26872967, 30718709, 9054934, 9295268, 9781034, 9973280		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	10413692, 10634594, 10958761, 11379881, 15019334, 15614537, 16546111, 18285826, 19243736, 24444108, 24713488, 25363634, 26593885, 30670881		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	BEFREE	23883535		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10396622, 10874631, 10958761, 11687513, 11726554, 12202497, 12442277, 15017103, 15019334, 15108289, 15494742, 15614537, 16681420, 17270046, 17325136, 17932850, 18285826, 18506364, 19230850, 20647261, 21554544, 22247458, 23755871, 24585425, 26780318, 28290600, 29437900, 29699983, 9466990		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	10413692, 10634594, 10874631, 10958761, 18285826, 18334942, 19028736, 19056738, 19339744, 20647261, 22128245, 22395892, 23755871, 23940504, 24453473, 25544989, 26806561, 28885670, 29386879, 31144483, 31766579, 31814693, 31968401, 32893963, 33261146, 33452396, 33633436, 34321860, 35656873, 37108442, 40121528, 40269797, 9070931, 9666097	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	11527935, 11594993, 20554613, 25312043, 26497376, 30718709, 9781034, 9973280		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	12442277, 18506364		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	16968212		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 19	Retinitis Pigmentosa	CLINVAR_DG	11726554, 16103129, 23695285, 23755871, 24444108, 26872967, 28181551, 9973280		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 19	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 19	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa inversa	Retinitis pigmentosa inversa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	19266166		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	33525094	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24200909		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	10958761, 11726554, 12796258, 15017103, 15494742, 16303974, 16681420, 16896346, 17325179, 17893657, 18285826, 19352439, 23755871, 25363634, 26593885, 26780318, 28044389		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sectoral retinitis pigmentosa	Sectoral retinitis pigmentosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	17037598		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	22389470		★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	31551682		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23573313		★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	10090887, 10486215, 10612508, 10634594, 10874631, 10958761, 10958763, 11594993, 16303974, 16917483, 17277736, 17325179, 17504850, 17562343, 18024811, 18285826, 18334942, 18854780, 19028736, 19056738, 19217903, 19352439, 19365591, 19430638, 20029649, 20149343, 20647261, 21310908, 21911583, 22312191, 22328824, 22661472, 22661473, 22863181, 22871184, 23096905, 23443024, 23695285, 23755871, 23918662, 23949494, 24097981, 24453473, 24509150, 24677105, 24763286, 24791140, 25066811, 25082829, 25139735, 25301883, 25312043, 25342616, 25474345, 25544989, 25922843, 26092729, 26161775, 26311262, 26527198, 27367509, 27739528, 27775217, 28050124, 28118664, 28365912, 28542697, 28726568, 28885670, 29028687, 29162642, 29386879, 29422768, 29461686, 29526278, 29847635, 29848554, 29902293, 29925512, 30060493, 30093795, 30204727, 30634128, 30643219, 30798147, 30926958, 31144483, 31197102, 31397521, 31403270, 31576780, 31614660, 31618812, 31766579, 31814693, 32000842, 32222369, 32298433, 32307445, 32413971, 32467599, 32619608, 32627976, 32660024, 32810830, 32815999, 32821503, 32845050, 32913387, 33261146, 33724725, 33792637, 33846575, 33879469, 33909047, 33924840, 33951446, 33988224, 34073554, 34198153, 34214897, 34298008, 34321860, 34440443, 34625547, 34695402, 34946930, 35119454, 35120629, 35170407, 35248547, 35348597, 35353811, 35475888, 36209838, 36259723, 36306781, 36359858, 36455383, 36566289, 36672932, 36833411, 36930890, 37108442, 37296172, 37331482, 37441824, 37480818, 37555651, 37587475, 37598860, 37705246, 37979432, 38003421, 38182646, 38222458, 38243599, 38615588, 39766771, 40225145, 40244202, 9666097, 9881544, 9973280	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Stargardt Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	10090887, 10634594, 10711710, 10874631, 10958761, 11379881, 11385708, 11687513, 11726554, 11846518, 12202497, 12592048, 12754711, 15019334, 15108289, 15161829, 15494742, 15579991, 17893657, 18024811, 18334942, 18463687, 18506364, 18854780, 19028736, 19365591, 20029649, 22312191, 22863181, 22871184, 22948568, 23882696, 23883535, 23949494, 24453473, 24572793, 24664763, 24677105, 25082829, 25265374, 25342616, 25346251, 25474345, 25573774, 25922843, 26161775, 26420842, 26574798, 26780318, 26976702, 27739528, 28002570, 28044389, 28726568, 29038010, 29145636, 29188512, 29461686, 29526278, 29847635, 29890160, 29902293, 29940588, 29971439, 30129371, 30643219, 30889179, 30926958, 31212395, 31522899, 31611143, 31618761, 31674661, 9466990, 9781034, 9810566, 9973280		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	CLINVAR_DG	10090887, 10206579, 10413692, 10509673, 10612508, 10634594, 10711710, 10958761, 10958763, 11017087, 11123914, 11385708, 11527935, 11687513, 11702214, 11846518, 11919200, 12037008, 12192456, 12962493, 14517951, 15108289, 15192030, 15494742, 15579991, 15614537, 16103129, 16123440, 17277736, 17296903, 17982420, 18652558, 19074458, 19217903, 19265867, 20029649, 20108432, 20335603, 20696155, 20981092, 21786275, 21911583, 22025579, 22229821, 22264887, 22312191, 22328824, 22449572, 22661472, 22661473, 22968130, 22995991, 23096905, 23105016, 23134348, 23143460, 23144455, 23419329, 23424971, 23443024, 23499370, 23591405, 23695285, 23755871, 23776498, 23918662, 23940504, 23953153, 23982839, 24082139, 24154662, 24265693, 24342785, 24444108, 24453473, 24509150, 24585425, 24713488, 24743636, 25066811, 25082885, 25087612, 25097241, 25283059, 25312043, 25333069, 25346251, 25356976, 25412400, 25472526, 25525159, 25544989, 25640233, 25698705, 25712131, 25921964, 26047050, 26092729, 26161775, 26261413, 26377081, 26872967, 28118664, 28181551, 29461686, 29925512, 30718709, 9054934, 9295268, 9466990, 9503029, 9781034, 9973280		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	UNIPROT_DG	10090887, 10206579, 10612508, 10634594, 10711710, 10746567, 10958763, 11328725, 11379881, 11385708, 11527935, 11594993, 18977788, 24097981, 24444108, 9054934, 9490294, 9503029, 9781034, 9973280		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	ORPHANET_DG	20633576		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Stargardt disease 3	Stargardt Disease	BEFREE	16364203, 9719369		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	24713488, 32660024	Associate	★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	10431236, 11350058		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	17997789		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	33899203	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	20436469		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	23940504, 35656873, 40269797	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20854103		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	17429493, 23695285, 24097981, 24713488, 29902293, 33258285, 33988224, 34625547, 35621151, 37510321, 37930186, 37979432, 38309476, 40244202	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	17491602, 28225724		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	CLINVAR_DG	30718709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations