ASS1 (argininosuccinate synthase 1)

Gene

• Entrez ID: 445
• Gene name: Argininosuccinate synthase 1
• Gene symbol: ASS1
• Synonyms: ASS, CTLN1
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromoso

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35269064	G>A,T	Pathogenic, likely-benign, benign	Missense variant, coding sequence variant
rs121908636	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908637	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121908638	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908639	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908642	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908643	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121908644	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908645	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs121908646	T>C	Pathogenic	Coding sequence variant, missense variant
rs138350285	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, 5 prime UTR variant, missense variant
rs148918985	C>T	Pathogenic	Missense variant, coding sequence variant
rs183276875	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs192838388	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199751308	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs200527708	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370595480	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371265106	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs372128852	G>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant
rs374586230	A>C,T	Pathogenic	Splice acceptor variant
rs375579096	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376371866	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123130	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs398123131	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs575001023	G>A	Pathogenic	Missense variant, coding sequence variant
rs745404241	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs748264993	G>A,T	Pathogenic-likely-pathogenic	Splice donor variant
rs750214431	G>T	Pathogenic-likely-pathogenic	Splice donor variant
rs750780742	A>G	Likely-pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs751930594	A>C,G,T	Pathogenic	Splice acceptor variant
rs762387914	C>T	Pathogenic	Coding sequence variant, missense variant
rs763389916	C>T	Likely-pathogenic	Intron variant
rs765338121	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs770362721	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs770585183	C>T	Pathogenic	Coding sequence variant, missense variant
rs770944877	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs771794639	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs775305020	G>A	Pathogenic	Coding sequence variant, missense variant
rs775791516	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs777828000	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs786204648	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs796051936	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886039853	C>T	Pathogenic	Coding sequence variant, missense variant
rs895822620	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs936192871	G>A	Pathogenic	Missense variant, coding sequence variant
rs982830431	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs1004492719	TTCAAGGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1043964127	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516339	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516544	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1057516648	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516960	G>A	Likely-pathogenic	Initiator codon variant, coding sequence variant, missense variant
rs1057517259	G>T	Likely-pathogenic	Splice acceptor variant
rs1057520659	G>T	Pathogenic	Splice donor variant
rs1085307056	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1301613270	C>G,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1313340299	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1396766124	G>A	Likely-pathogenic	Splice donor variant
rs1554722453	CACATCAGGTAAATCCCACCC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554723160	GTATG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554723625	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554982237	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554982243	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554982809	G>A	Likely-pathogenic	Splice acceptor variant
rs1554982847	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554983717	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554983719	G>A	Likely-pathogenic	Splice donor variant
rs1564903969	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588475891	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588495489	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs1588496214	A>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050346	hsa-miR-25-3p	CLASH	23622248
MIRT049535	hsa-miR-92a-3p	CLASH	23622248
MIRT043101	hsa-miR-324-5p	CLASH	23622248
MIRT542076	hsa-miR-8485	HITS-CLIP	21572407
MIRT542075	hsa-miR-603	HITS-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	21572407
MIRT542072	hsa-miR-8067	HITS-CLIP	21572407
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT610890	hsa-miR-5680	HITS-CLIP	23313552
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23313552
MIRT542072	hsa-miR-8067	HITS-CLIP	23313552
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT677845	hsa-miR-606	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT677844	hsa-miR-3941	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT677845	hsa-miR-606	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677844	hsa-miR-3941	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	24906430
MIRT542075	hsa-miR-603	HITS-CLIP	24906430
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	24906430
MIRT542076	hsa-miR-8485	HITS-CLIP	24906430
MIRT542075	hsa-miR-603	HITS-CLIP	24906430
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	24906430
MIRT542076	hsa-miR-8485	PAR-CLIP	21572407
MIRT542075	hsa-miR-603	PAR-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	PAR-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	PAR-CLIP	21572407
MIRT542072	hsa-miR-8067	PAR-CLIP	21572407
MIRT677847	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT677846	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT677844	hsa-miR-3941	HITS-CLIP	27418678
MIRT610890	hsa-miR-5680	HITS-CLIP	27418678
MIRT610890	hsa-miR-5680	HITS-CLIP	27418678
MIRT610890	hsa-miR-5680	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT677845	hsa-miR-606	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT737278	hsa-miR-1291	Western blotting, qRT-PCR	33051382
MIRT542076	hsa-miR-8485	HITS-CLIP	21572407
MIRT542075	hsa-miR-603	HITS-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	21572407
MIRT542072	hsa-miR-8067	HITS-CLIP	21572407
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT610890	hsa-miR-5680	HITS-CLIP	23313552
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23313552
MIRT542072	hsa-miR-8067	HITS-CLIP	23313552
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT677845	hsa-miR-606	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT677844	hsa-miR-3941	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT677845	hsa-miR-606	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677844	hsa-miR-3941	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	PAR-CLIP	21572407
MIRT542075	hsa-miR-603	PAR-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	PAR-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	PAR-CLIP	21572407
MIRT542072	hsa-miR-8067	PAR-CLIP	21572407
MIRT803217	hsa-miR-1202	CLIP-seq
MIRT803218	hsa-miR-1280	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803220	hsa-miR-1913	CLIP-seq
MIRT803221	hsa-miR-204	CLIP-seq
MIRT803222	hsa-miR-211	CLIP-seq
MIRT803223	hsa-miR-22	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803226	hsa-miR-3194-5p	CLIP-seq
MIRT803227	hsa-miR-324-3p	CLIP-seq
MIRT803228	hsa-miR-3972	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803231	hsa-miR-4301	CLIP-seq
MIRT803232	hsa-miR-4313	CLIP-seq
MIRT803233	hsa-miR-4323	CLIP-seq
MIRT803234	hsa-miR-4755-5p	CLIP-seq
MIRT803235	hsa-miR-4758-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803240	hsa-miR-623	CLIP-seq
MIRT803241	hsa-miR-885-3p	CLIP-seq
MIRT803242	hsa-miR-890	CLIP-seq
MIRT1937210	hsa-miR-1275	CLIP-seq
MIRT803218	hsa-miR-1280	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803220	hsa-miR-1913	CLIP-seq
MIRT803221	hsa-miR-204	CLIP-seq
MIRT803222	hsa-miR-211	CLIP-seq
MIRT803223	hsa-miR-22	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT1937211	hsa-miR-2276	CLIP-seq
MIRT1937212	hsa-miR-3127-5p	CLIP-seq
MIRT1937213	hsa-miR-3144-5p	CLIP-seq
MIRT1937214	hsa-miR-320a	CLIP-seq
MIRT1937215	hsa-miR-320b	CLIP-seq
MIRT1937216	hsa-miR-320c	CLIP-seq
MIRT1937217	hsa-miR-320d	CLIP-seq
MIRT1937218	hsa-miR-320e	CLIP-seq
MIRT803227	hsa-miR-324-3p	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803232	hsa-miR-4313	CLIP-seq
MIRT1937219	hsa-miR-4429	CLIP-seq
MIRT1937220	hsa-miR-4525	CLIP-seq
MIRT1937221	hsa-miR-4665-5p	CLIP-seq
MIRT1937222	hsa-miR-4716-3p	CLIP-seq
MIRT1937223	hsa-miR-4723-5p	CLIP-seq
MIRT803234	hsa-miR-4755-5p	CLIP-seq
MIRT1937224	hsa-miR-4772-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803240	hsa-miR-623	CLIP-seq
MIRT1937225	hsa-miR-625	CLIP-seq
MIRT803242	hsa-miR-890	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803217	hsa-miR-1202	CLIP-seq
MIRT1937210	hsa-miR-1275	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT2480290	hsa-miR-2861	CLIP-seq
MIRT1937212	hsa-miR-3127-5p	CLIP-seq
MIRT1937213	hsa-miR-3144-5p	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803226	hsa-miR-3194-5p	CLIP-seq
MIRT1937214	hsa-miR-320a	CLIP-seq
MIRT1937215	hsa-miR-320b	CLIP-seq
MIRT1937216	hsa-miR-320c	CLIP-seq
MIRT1937217	hsa-miR-320d	CLIP-seq
MIRT1937218	hsa-miR-320e	CLIP-seq
MIRT803228	hsa-miR-3972	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803231	hsa-miR-4301	CLIP-seq
MIRT803233	hsa-miR-4323	CLIP-seq
MIRT1937219	hsa-miR-4429	CLIP-seq
MIRT1937221	hsa-miR-4665-5p	CLIP-seq
MIRT1937222	hsa-miR-4716-3p	CLIP-seq
MIRT2480291	hsa-miR-4731-5p	CLIP-seq
MIRT803235	hsa-miR-4758-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803241	hsa-miR-885-3p	CLIP-seq
MIRT803242	hsa-miR-890	CLIP-seq
MIRT803217	hsa-miR-1202	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT2480290	hsa-miR-2861	CLIP-seq
MIRT1937212	hsa-miR-3127-5p	CLIP-seq
MIRT1937213	hsa-miR-3144-5p	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803226	hsa-miR-3194-5p	CLIP-seq
MIRT1937214	hsa-miR-320a	CLIP-seq
MIRT1937215	hsa-miR-320b	CLIP-seq
MIRT1937216	hsa-miR-320c	CLIP-seq
MIRT1937217	hsa-miR-320d	CLIP-seq
MIRT1937218	hsa-miR-320e	CLIP-seq
MIRT803228	hsa-miR-3972	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803231	hsa-miR-4301	CLIP-seq
MIRT803233	hsa-miR-4323	CLIP-seq
MIRT1937219	hsa-miR-4429	CLIP-seq
MIRT1937222	hsa-miR-4716-3p	CLIP-seq
MIRT2480291	hsa-miR-4731-5p	CLIP-seq
MIRT803235	hsa-miR-4758-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803241	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	19934275
MYC	Activation	19934275
SP4	Activation	19934275

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IBA	21873635
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	IMP	7977368, 8792870, 18473344, 27287393
GO:0000050	Process	Urea cycle	TAS
GO:0000052	Process	Citrulline metabolic process	IMP	7977368
GO:0000053	Process	Argininosuccinate metabolic process	IBA	21873635
GO:0000053	Process	Argininosuccinate metabolic process	IMP	7977368
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004055	Function	Argininosuccinate synthase activity	IBA	21873635
GO:0004055	Function	Argininosuccinate synthase activity	IMP	7977368, 8792870, 18473344, 27287393, 28985504
GO:0005515	Function	Protein binding	IPI	12620389, 17496144, 28587924, 28985504
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA	28985504
GO:0005829	Component	Cytosol	TAS
GO:0006526	Process	Arginine biosynthetic process	IBA	21873635
GO:0006526	Process	Arginine biosynthetic process	IEA
GO:0006526	Process	Arginine biosynthetic process	IMP	8792870, 18473344, 27287393
GO:0006531	Process	Aspartate metabolic process	IMP	7977368
GO:0006953	Process	Acute-phase response	IEA
GO:0007494	Process	Midgut development	IEA
GO:0007568	Process	Aging	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0007623	Process	Circadian rhythm	IDA	28985504
GO:0010043	Process	Response to zinc ion	IEA
GO:0010046	Process	Response to mycotoxin	IEA
GO:0015643	Function	Toxic substance binding	IEA
GO:0016597	Function	Amino acid binding	IMP	7977368
GO:0032355	Process	Response to estradiol	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21988832, 25416956
GO:0043204	Component	Perikaryon	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IMP	21106532
GO:0060416	Process	Response to growth hormone	IEA
GO:0060539	Process	Diaphragm development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070852	Component	Cell body fiber	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071242	Process	Cellular response to ammonium ion	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071377	Process	Cellular response to glucagon stimulus	IEA
GO:0071400	Process	Cellular response to oleic acid	IEA
GO:0071418	Process	Cellular response to amine stimulus	IEA
GO:0071499	Process	Cellular response to laminar fluid shear stress	IMP	21106532
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:1903038	Process	Negative regulation of leukocyte cell-cell adhesion	IMP	21106532

Other IDs

• MIM: 603470
• HGNC: 758
• e!Ensembl: ENSG00000130707

Protein

• UniProt ID: P00966
• Protein name: Argininosuccinate synthase (EC 6.3.4.5) (Citrulline--aspartate ligase)
• Protein function: One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline
• PDB: 2NZ2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00764	Arginosuc_synth	8 → 403	Arginosuccinate synthase	Family

• Sequence:

  MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVF
  IEDVSREFVEEFIWPAIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATG
  KGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWS
  MDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
  GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAF
  TMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYI
  LGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAK

• Sequence length: 412

Pathways

KEGG:

Arginine biosynthesis
Alanine, aspartate and glutamate metabolism
Metabolic pathways
Biosynthesis of amino acids
Fluid shear stress and atherosclerosis

Reactome:

Urea cycle

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Citrullinemia	Citrullinemia, Argininosuccinic Acid Synthetase Deficiency, Complete, Citrullinemia Type 1, Acute neonatal citrullinemia type I, Adult-onset citrullinemia type I	rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs121908636, rs121908638, rs121908639, rs121908640, rs121908641, rs121908642, rs121908643, rs121908644, rs121908645, rs121908646, rs121908647, rs80338721, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs398123130, rs192838388, rs148918985, rs398123131, rs371265106, rs727503814, rs786204648, rs770362721, rs786204537, rs786204460, rs751930594, rs771937610, rs777828000, rs80338720, rs1085307056, rs746155190, rs575001023, rs763389916, rs886039853, rs372128852, rs1057516960, rs1057516648, rs1057516544, rs1057516339, rs1057517259, rs982830431, rs762387914, rs1057516338, rs1057517402, rs763191789, rs1057520659, rs1060499612, rs765338121, rs758827458, rs1554725034, rs1439911743, rs936192871, rs1554725677, rs1554982237, rs756859126, rs1554982809, rs1554983719, rs1396766124, rs750780742, rs1554982824, rs1554722453, rs1554723160, rs1554723625, rs1554725033, rs1554982243, rs770944877, rs750214431, rs1213378896, rs1554982847, rs201623252, rs1554983717, rs1301613270, rs775791516, rs1564903969, rs1262020902, rs1562831765, rs962082210, rs748264993, rs1004492719, rs1261058897, rs771794639, rs761370420, rs768922690, rs1588475891, rs745404241, rs775305020, rs770585183, rs1313340299, rs374586230, rs1588495489, rs1588496214, rs1588508532, rs1312396424, rs1482630982, rs1846142146, rs549085827, rs1488840592	2246255, 10097149, 28111830, 6763345, 23246278, 19006241, 27604308, 16475226, 8197477, 11083500, 28111830, 16475226, 10097149, 6763345, 23246278, 11083500, 19006241, 8197477, 2246255, 22106832, 26206375, 23246278, 24889030, 18925679, 11941481, 22473243, 8792870, 19006241, 15266621, 8197477, 7977368, 23099195, 24765495, 16475226, 2246255, 28111830, 23611581, 11083500, 12815590, 14680976, 27287393, 15863597, 26117549, 22768672, 9090528, 6763345, 24508627, 21227727, 25433810, 23094117, 15334737, 11571557, 7557970, 16124451, 25537548, 1943692, 2358466, 10097149, 25047749, 25179242, 11708871, 10987146, 23780642, 22494545, 23430935, 20005624, 19358837, 21483992, 18473344, 11738042, 21244552, 24713661
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	19006241

Unknown
Disease name	Disease term	dbSNP ID	References
Argininosuccinic acid synthetase deficiency disease	Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Diabetic cardiomyopathy	Diabetic Angiopathies, Microangiopathy, Diabetic		25033204