ASS1 (argininosuccinate synthase 1)

Gene

• Entrez ID: 445
• Gene name: Argininosuccinate synthase 1
• Gene symbol: ASS1
• Synonyms (NCBI Gene): 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
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	IMP	7977368, 8792870, 18473344, 27287393
GO:0000052	Process	Citrulline metabolic process	IMP	7977368
GO:0000053	Process	Argininosuccinate metabolic process	IBA
GO:0000053	Process	Argininosuccinate metabolic process	IEA
GO:0000053	Process	Argininosuccinate metabolic process	IMP	7977368
GO:0000166	Function	Nucleotide binding	IEA
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
GO:0004055	Function	Argininosuccinate synthase activity	IEA
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:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	6194510
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IDA	28985504
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006526	Process	L-arginine biosynthetic process	IBA
GO:0006526	Process	L-arginine biosynthetic process	IEA
GO:0006526	Process	L-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:0007584	Process	Response to nutrient	IEA
GO:0007623	Process	Circadian rhythm	IDA	28985504
GO:0007623	Process	Circadian rhythm	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0010046	Process	Response to mycotoxin	IEA
GO:0014075	Process	Response to amine	IEA
GO:0015643	Function	Toxic substance binding	IEA
GO:0016597	Function	Amino acid binding	IMP	7977368
GO:0016874	Function	Ligase activity	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21988832, 25416956
GO:0043025	Component	Neuronal cell body	IEA
GO:0043200	Process	Response to amino acid	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IMP	21106532
GO:0048545	Process	Response to steroid hormone	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060416	Process	Response to growth hormone	IEA
GO:0060539	Process	Diaphragm development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070542	Process	Response to fatty acid	IEA
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 type II interferon	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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in adult liver. {ECO:0000269|PubMed:1708740}.
• Sequence:

  MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVF
  IEDVSREFVEEFIWPAIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATG
  KGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWS
  MDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
  GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAF
  TMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYI
  LGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAK

• Sequence length: 412

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
ASS1-related disorder	Pathogenic; Likely pathogenic	rs768215008, rs771937610, rs121908639, rs121908643, rs121908646, rs763191684, rs2490621864, rs770944877, rs1588496214	RCV004756500 RCV004755793 RCV003934804 RCV004755716 RCV003914816 RCV004756456 RCV003982273 RCV004756006 RCV003425879	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia	Likely pathogenic; Pathogenic	rs759483921, rs2131882609, rs2118832409, rs2118864015, rs377319610, rs201445618, rs2118839419, rs2118880266, rs2118880626, rs768215008, rs2131874080, rs1453708640, rs2118832404, rs748264993, rs2131886482, rs2118832071, rs1262020902, rs183276875, rs2118880115, rs2131879687, rs2118832096, rs2118864334, rs727503814, rs786204648, rs770362721, rs786204537, rs786204460, rs2490520629, rs769018733, rs2490531703, rs751930594, rs771937610, rs777828000, rs1305436274, rs2490621719, rs2490592318, rs2490582195, rs2490515378, rs746855701, rs2490621965, rs121908636, rs121908638, rs121908639, rs121908640, rs121908641, rs121908642, rs121908643, rs121908644, rs121908645, rs121908646, rs121908647, rs121908648, rs763191684, rs1409764603, rs754930928, rs575001023, rs763389916, rs886039853, rs372128852, rs2490610455, rs2490531268, rs2490582225, rs2490531312, rs2490515237, rs2490622155, rs563922134, rs982830431, rs1257036291, rs2490581988, rs2490532067, rs2490631235, rs199751308, rs1845500156, rs1057516544, rs1057516339, rs762387914, rs1057516338, rs765338121, rs1554725724, rs1554725034, rs1439911743, rs936192871, rs1554725677, rs1554982237, rs756859126, rs770944877, rs750214431, rs555388438, rs201623252, rs1554983717, rs753078725, rs775163147, rs1301613270, rs775791516, rs1564903969, rs1004492719, rs559043503, rs771794639, rs745404241, rs775305020, rs770585183, rs1313340299, rs374586230, rs1588496214, rs1846142146, rs549085827, rs1488840592, rs1845506282, rs1845507027, rs774231051, rs1845754405, rs771640767, rs1846687897, rs969835605, rs398123130, rs192838388, rs148918985, rs398123131, rs371265106	RCV001387396 RCV001379245 RCV001377539 RCV001379731 RCV001383412 RCV001383413 RCV001383941 RCV001383471 RCV001385370 RCV003226684 RCV002221688 RCV001924015 RCV002033726 RCV001953710 RCV001949257 RCV001957533 RCV001932785 RCV002016489 RCV001991462 RCV002047287 RCV001951564 RCV001946378 RCV001888022 RCV001376639 RCV002228612 RCV001376598 RCV002228610 RCV001850390 RCV003070879 RCV003058237 RCV003062236 RCV001388057 RCV000633525 RCV001376580 RCV002833117 RCV002811830 RCV002844013 RCV002877109 RCV002867825 RCV002953007 RCV003000070 RCV001376548 RCV001376618 RCV001376631 RCV001376637 RCV001376575 RCV001376582 RCV002512847 RCV001376621 RCV001376581 RCV001376556 RCV001851704 RCV002512848 RCV002994081 RCV003044712 RCV003155830 RCV001376558 RCV002521863 RCV002519007 RCV001376552 RCV005627484 RCV003594697 RCV003594754 RCV003594818 RCV003594860 RCV003593586 RCV003594378 RCV003594441 RCV003760715 RCV003761019 RCV003759282 RCV003759446 RCV003759519 RCV001376638 RCV003878027 RCV002523853 RCV003593953 RCV001865271 RCV001376574 RCV003758760 RCV001290024 RCV002230974 RCV002231278 RCV003153687 RCV000552381 RCV001376549 RCV001376617 RCV002233957 RCV002233956 RCV001376559 RCV001376572 RCV002531260 RCV003594016 RCV001855437 RCV002531238 RCV002221574 RCV002532066 RCV002544676 RCV002233293 RCV002233206 RCV001376557 RCV001386473 RCV001869157 RCV000812699 RCV002235282 RCV002549237 RCV001376619 RCV001376579 RCV001860552 RCV002509589 RCV001377855 RCV001048427 RCV001042848 RCV001051566 RCV001216595 RCV001209466 RCV001222048 RCV001217877 RCV002241559 RCV001239626 RCV001238121 RCV003230657 RCV005089535 RCV001376591 RCV001247325 RCV001383414 RCV001290025	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia type I	Likely pathogenic; Pathogenic	rs759483921, rs2118864015, rs2118880266, rs2118880170, rs2118841816, rs768215008, rs777828000, rs2131874080, rs774231051, rs748264993, rs1262020902, rs727503814, rs2490581929, rs2490553265, rs2490553577, rs2490610438, rs1428619789, rs2490520604, rs2490515301, rs786204648, rs770362721, rs786204537, rs786204460, rs769018733, rs751930594, rs771937610, rs121908636, rs121908638, rs121908639, rs121908640, rs121908641, rs121908642, rs121908643, rs121908644, rs121908645, rs121908646, rs121908647, rs121908648, rs763191684, rs1085307056, rs754930928, rs575001023, rs763389916, rs886039853, rs372128852, rs2490610627, rs2490531358, rs2490631524, rs1175810875, rs1333271656, rs2490546368, rs2490610455, rs2490610421, rs2490592102, rs1422867920, rs2490621738, rs2490531804, rs2490621912, rs1277616719, rs2131869283, rs1554983717, rs2490581988, rs199751308, rs1321267678, rs2490631214, rs2490546449, rs925553792, rs2490634930, rs1057516960, rs1057516648, rs1057516544, rs1057516339, rs1057517259, rs982830431, rs762387914, rs1057516338, rs1057517402, rs1057520659, rs765338121, rs1554725724, rs1554725034, rs936192871, rs1554725677, rs756859126, rs1554982809, rs771794639, rs1554983719, rs1396766124, rs750780742, rs1554722453, rs1554723160, rs1554723625, rs1554725033, rs1554982243, rs770944877, rs750214431, rs555388438, rs1213378896, rs1554982847, rs201623252, rs753078725, rs775163147, rs1301613270, rs775791516, rs1564903969, rs1004492719, rs559043503, rs1588475891, rs745404241, rs775305020, rs770585183, rs1313340299, rs374586230, rs1588495489, rs1588496214, rs1588508532, rs549085827, rs1488840592, rs1845507027, rs771640767, rs1846142065, rs969835605, rs398123130, rs192838388, rs148918985, rs398123131, rs371265106	RCV003462905 RCV001831372 RCV003462992 RCV001580630 RCV001580631 RCV003459808 RCV001780653 RCV003485733 RCV001824208 RCV003471179 RCV005361918 RCV000152808 RCV002306551 RCV002306751 RCV002309651 RCV002309921 RCV002309172 RCV002309502 RCV002307321 RCV002465026 RCV000169436 RCV000169181 RCV000169239 RCV000169103 RCV003459721 RCV000179704 RCV002500568 RCV000190357 RCV000006696 RCV000006698 RCV000006699 RCV000006700 RCV000006701 RCV000006702 RCV000006703 RCV000006704 RCV000006705 RCV000256312 RCV000256322 RCV000006711 RCV003464648 RCV000490502 RCV004572864 RCV000256238 RCV000256264 RCV000256276 RCV000256325 RCV003472933 RCV003474038 RCV003466399 RCV003463553 RCV003463555 RCV003466407 RCV003463563 RCV003474043 RCV003474045 RCV003474048 RCV003466414 RCV003466416 RCV003466417 RCV003463580 RCV003463588 RCV003466427 RCV003464658 RCV003464667 RCV003472922 RCV003494426 RCV004573204 RCV000286574 RCV003985971 RCV004018192 RCV004573741 RCV004573784 RCV004573787 RCV000411464 RCV000411227 RCV000411991 RCV000409826 RCV000410192 RCV000410118 RCV000409266 RCV000411785 RCV000411642 RCV003470378 RCV000672066 RCV000984146 RCV003459204 RCV001783037 RCV000529881 RCV000590599 RCV000633522 RCV000670490 RCV000668864 RCV000671912 RCV000674371 RCV000665063 RCV000668613 RCV000668137 RCV000673813 RCV000666397 RCV000668829 RCV000671967 RCV000670816 RCV000670744 RCV000672915 RCV000670815 RCV000665366 RCV000665132 RCV000669784 RCV000673280 RCV000668096 RCV000674984 RCV000695591 RCV000761224 RCV000761475 RCV000780873 RCV005049704 RCV001004327 RCV001004328 RCV001004329 RCV001004330 RCV001004331 RCV001004332 RCV001004534 RCV001004535 RCV001004536 RCV001004537 RCV001784584 RCV001827325 RCV001192847 RCV003462700 RCV003469382 RCV001246468 RCV001250094 RCV001283858 RCV000078020 RCV000078024 RCV001831814 RCV000078026 RCV000078027	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia, mild	Pathogenic	rs121908646, rs121908647	RCV000006707 RCV000006708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Citrullinemia, type II, adult-onset	Pathogenic	rs774231051	RCV003987911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Likely pathogenic; Pathogenic	rs775163147	RCV004544933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1588495489	RCV005912367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic adenocarcinoma	Pathogenic	rs982830431	RCV005900638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1845754405	RCV005909034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs727503814, rs121908639	RCV005888383 RCV005887329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs372128852	RCV005895455	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACUTE NEONATAL CITRULLINEMIA TYPE I	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADULT-ONSET CITRULLINEMIA TYPE I	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CITRULLINEMIA TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CITRULLINEMIA, CLASSIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE IA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29168171		★☆☆☆☆ Found in Text Mining only
Acute neonatal citrullinemia type I	Citrullinemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18825457		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29168171		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	8208343		★☆☆☆☆ Found in Text Mining only
Adult-onset citrullinemia type 2	Citrullinemia	BEFREE	10369257, 10610724, 11153906, 11999983, 12111366, 12512993, 12602510, 14701727, 25533124, 29651749, 7556646		★☆☆☆☆ Found in Text Mining only
Adult-onset citrullinemia type I	Citrullinemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	27683125		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11106581, 32119650	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	26895070		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28187218		★☆☆☆☆ Found in Text Mining only
Argininosuccinic Acid Synthetase Deficiency Disease, Partial	Argininosuccinic Acid Synthetase Deficiency Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Argininosuccinic Acid Synthetase Deficiency, Complete	Citrullinemia	CLINGEN_DG	10097149, 11083500, 16475226, 19006241, 2246255, 23246278, 28111830, 6763345, 8197477		★☆☆☆☆ Found in Text Mining only
Argininosuccinic Acid Synthetase Deficiency, Complete	Citrullinemia	BEFREE	12815590, 18473344, 25179242, 7557970, 9090528		★☆☆☆☆ Found in Text Mining only
Argininosuccinic Acid Synthetase Deficiency, Complete	Citrullinemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30833802		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12672181		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30833802		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	39173065	Stimulate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28587170		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24285724, 27979310, 28187218, 30214636		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14770441, 35674458	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25333458	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	28358054	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14770441, 28587170, 35864952	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25164070, 33856599	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	40645971	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24285724, 27979310, 28187218, 30214636		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25240403		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28187218, 33395072	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	14770441, 32308805	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	28358054		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	29453600		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17354225, 19533750		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29168171		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	8208343		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30008833		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29846676		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1625473, 31824848		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Citrullinemia	Citrullinemia	CLINGEN_DG	10097149, 11083500, 16475226, 19006241, 2246255, 23246278, 28111830, 6763345, 8197477		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia	Citrullinemia	BEFREE	10369257, 10610724, 10987146, 11083500, 11571557, 11941481, 11999983, 12542919, 14680976, 14701727, 2246255, 24508627, 24713661, 25443352, 2813370, 28587924, 28741715, 29247816, 31729055, 3459354, 3570300, 6823333, 7556646		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia	Citrullinemia	Pubtator	10987146, 11211875, 14770441, 20690080, 24713661, 25443352, 28750687, 3459354, 35726796, 36680390	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia	Citrullinemia	LHGDN	12815590		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia	Citrullinemia	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia	Citrullinemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Citrullinemia Type 1	Citrullinemia	CLINGEN_DG	10097149, 11083500, 16475226, 19006241, 2246255, 23246278, 28111830, 6763345, 8197477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Citrullinemia Type 1	Citrullinemia	CLINVAR_DG	10987146, 11571557, 11708871, 11738042, 11941481, 12815590, 14680976, 15266621, 15334737, 15863597, 16124451, 16475226, 18473344, 18925679, 19006241, 19358837, 1943692, 20005624, 21227727, 21244552, 21483992, 22106832, 2246255, 22473243, 22494545, 22768672, 23094117, 23099195, 23246278, 23430935, 2358466, 23611581, 23780642, 24508627, 24713661, 24765495, 24889030, 25047749, 25179242, 25433810, 25537548, 26117549, 26206375, 27287393, 28111830, 7557970, 7977368, 8792870, 9090528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Citrullinemia Type 1	Citrullinemia	UNIPROT_DG	11708871, 11941481, 12815590, 14680976, 15863597, 16475226, 18473344, 19006241, 1943692, 2358466, 23611581, 24889030, 25179242, 27287393, 28111830, 7977368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Citrullinemia Type 1	Citrullinemia	BEFREE	14680976, 18473344, 19358837, 20724589, 21227727, 21244552, 23099195, 23611581, 24131980, 24889030, 25179242, 25492936, 28111830, 28132756, 28302489, 28587924, 28750687, 30848473, 31208364, 31469252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Citrullinemia Type 1	Citrullinemia	GENOMICS_ENGLAND_DG	19006241, 2358466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Citrullinemia Type 1	Citrullinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical phenylketonuria	Phenylketonuria	BEFREE	24192130		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33323040	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	14770441	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27689335, 30108309		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27689335, 34227245	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28229591		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30008833		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29754953, 30280600, 31000693		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	9135384	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29695388	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	CTD_human_DG	25033204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Foot	Diabetic foot	Pubtator	38287255	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	1985454	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia musculorum deformans	Pubtator	1347197	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	BEFREE	8341306		★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	14989804, 8004804		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	20724589, 21979481		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28358054		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28358054, 31692912, 34195683	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	29695388	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	17354225		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36978187	Associate	★☆☆☆☆ Found in Text Mining only
Familial Tremor	Tremor	BEFREE	8341306		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29651749		★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	BEFREE	23549872		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23328665, 28245795, 29422017		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23328665, 28245795, 29422017	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23328665, 28245795, 30546006		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28245795, 29422017	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	28646562, 29572896, 31047837, 31135443		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	7802041		★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	28750687, 34606567	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	30833802		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	11571557, 6823333		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	19006241		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	25121552		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	30463977		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29846676		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1625473		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21972289	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25896651		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12359751, 17210712, 18661517, 21152246, 23339388, 25164070, 25616743, 28587170, 29659672, 30883650		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	18661517, 23979921, 28587170		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1467433		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25333458	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22764101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	22764101	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	22764101		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26902604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28358054		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22134507, 25240403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19533750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18661517, 25240403, 28832976, 31395686		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22546217		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29401583		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24285724, 27979310, 28187218, 30214636		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21453546, 22546217, 22764101, 23339388, 25164070, 25928182, 27584578, 27689335, 28187218, 28229591, 29401583, 30214636, 30573518, 30883650		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	35782058	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	8208343		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12359751, 18473854, 18661517, 19934275, 21152246, 22546217, 23979920		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	14770441, 23979920	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22472884	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	34982085	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	30244387	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	26982031, 27452468, 27584578		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	26982031, 27452468, 36669126	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27452468	Inhibit	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	36669126	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	23099195, 30280600		★☆☆☆☆ Found in Text Mining only
Microangiopathy, Diabetic	Diabetic cardiomyopathy	CTD_human_DG	25033204		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	37366304	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	1625473		★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	7825584		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23897555, 28187218		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23897555, 28187218	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12359751, 17210712, 18473854, 22074703, 23549872, 23897555, 24285724, 25121552, 26771234, 27109103, 27452468, 28187218, 28358054, 28388291, 28587170, 29401583, 29453600, 29597093, 29776373, 30546006, 30605863, 31047837, 31795337, 31824848, 7902161, 8208343		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36319669	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28388291		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	22733545		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	20159990, 27683125		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19533750		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18661517, 25240403, 28832976		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28187218		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28187218, 33051382	Associate	★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	24192130		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	7802041		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30280600		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22546217		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22546217, 25122679	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17096330		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31000693		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17982619		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	14770441, 27683125, 27735949, 29721066, 32814773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma, Epithelioid	Sarcoma	BEFREE	27683125		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34606567	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21481813		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	22134507, 30155941		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22134507	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29651749		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29401583		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25333458	Associate	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	7902161		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28187218, 30214636	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	35466524	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	7802041		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	7802041		★☆☆☆☆ Found in Text Mining only